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5. X Chromosome Contribution to the Genetic Architecture of Primary Biliary Cholangitis

Author

Walker, Erin, Xie, Gang, Mason, Andy, Myers, Robert, Peltekian, Kevork, Ghent, Cameron, Atkinson, Elizabeth, Juran, Bruce, Lazaridis, Kostas, Lu, Yue, Gu, Xiangjun, Jing, Kaiyan, Amos, Chris, Affronti, Andrea, Brunetto, Maurizia, Coco, Barbara, Spinzi, Giancarlo, Elia, Gianfranco, Ferrari, Carlo, Lleo, Ana, Muratori, Luigi, Muratori, Paolo, Portincasa, Piero, Colli, Agostino, Bruno, Savino, Colloredo, Guido, Azzaroli, Francesco, Andreone, Pietro, Bragazzi, MariaConsiglia, Alvaro, Domenico, Cardinale, Vincenzo, Cazzagon, Nora, Rigamonti, Cristina, Floreani, Annarosa, Rosina, Floriano, Ciaccio, Antonio, Cristoferi, Laura, D’Amato, Daphne, Malinverno, Federica, Mancuso, Clara, Massironi, Sara, Milani, Chiara, O’Donnell, Sarah E., Ronca, Vincenzo, Barisani, Donatella, Lampertico, Pietro, Donato, Francesca, Fagiuoli, Stefano, Almasio, Piero L., Giannini, Edoardo, Cursaro, Carmela, Colombo, Massimo, Valenti, Luca, Miele, Luca, Andriulli, Angelo, Niro, Grazia A., Grattagliano, Ignazio, Morini, Lorenzo, Casella, Giovanni, Vinci, Maria, Battezzati, Pier Maria, Crosignani, Andrea, Zuin, Massimo, Mattalia, Alberto, Calvaruso, Vincenza, Colombo, Silvia, Benedetti, Antonio, Marzioni, Marco, Galli, Andrea, Marra, Fabio, Tarocchi, Mirko, Picciotto, Antonio, Morisco, Filomena, Fabris, Luca, Crocè, Lory Saveria, Tiribelli, Claudio, Toniutto, Pierluigi, Strazzabosco, Mario, Ch’ng, Chin Lye, Rahman, Mesbah, Yapp, Tom, Sturgess, Richard, Healey, Christopher, Czajkowski, Marek, Gunasekera, Anton, Gyawali, Pranab, Premchand, Purushothaman, Kapur, Kapil, Marley, Richard, Foster, Graham, Watson, Alan, Dias, Aruna, Subhani, Javaid, Harvey, Rory, McCorry, Roger, Ramanaden, David, Gasem, Jaber, Evans, Richard, Mathialahan, Thiriloganathan, Shorrock, Christopher, Lipscomb, George, Southern, Paul, Tibble, Jeremy, Gorard, David, Palegwala, Altaf, Jones, Susan, Dawwas, Mohamed, Alexander, Graeme, Dolwani, Sunil, Prince, Martin, Foxton, Matthew, Elphick, David, Mitchison, Harriet, Gooding, Ian, Karmo, Mazn, Saksena, Sushma, Mendall, Mike, Patel, Minesh, Ede, Roland, Austin, Andrew, Sayer, Joanna, Hankey, Lorraine, Hovell, Christopher, Fisher, Neil, Carter, Martyn, Koss, Konrad, Piotrowicz, Andrzej, Grimley, Charles, Neal, David, Lim, Guan, Levi, Sass, Ala, Aftab, Broad, Andrea, Saeed, Athar, Wood, Gordon, Brown, Jonathan, Wilkinson, Mark, Gordon, Harriet, Ramage, John, Ridpath, Jo, Ngatchu, Theodore, Grover, Bob, Shaukat, Syed, Shidrawi, Ray, Abouda, George, Ali, Faiz, Rees, Ian, Salam, Imroz, Narain, Mark, Brown, Ashley, Taylor-Robinson, Simon, Williams, Simon, Grellier, Leonie, Banim, Paul, Das, Debasish, Chilton, Andrew, Heneghan, Michael, Curtis, Howard, Gess, Markus, Drake, Ian, Aldersley, Mark, Davies, Mervyn, Jones, Rebecca, McNair, Alastair, Srirajaskanthan, Raj, Pitcher, Maxton, Sen, Sambit, Bird, George, Barnardo, Adrian, Kitchen, Paul, Yoong, Kevin, Chirag, Oza, Sivaramakrishnan, Nurani, MacFaul, George, Jones, David, Shah, Amir, Evans, Chris, Saha, Subrata, Pollock, Katharine, Bramley, Peter, Mukhopadhya, Ashis, Fraser, Andrew, Mills, Peter, Shallcross, Christopher, Campbell, Stewart, Bathgate, Andrew, Shepherd, Alan, Dillon, John, Rushbrook, Simon, Przemioslo, Robert, Macdonald, Christopher, Metcalf, Jane, Shmueli, Udi, Davis, Andrew, Naqvi, Asifabbas, Lee, Tom, Ryder, Stephen D., Collier, Jane, Klass, Howard, Ninkovic, Mary, Cramp, Matthew, Sharer, Nicholas, Aspinall, Richard, Goggin, Patrick, Ghosh, Deb, Douds, Andrew, Hoeroldt, Barbara, Booth, Jonathan, Williams, Earl, Hussaini, Hyder, Stableforth, William, Ayres, Reuben, Thorburn, Douglas, Marshall, Eileen, Burroughs, Andrew, Mann, Steven, Lombard, Martin, Richardson, Paul, Patanwala, Imran, Maltby, Julia, Brookes, Matthew, Mathew, Ray, Vyas, Samir, Singhal, Saket, Gleeson, Dermot, Misra, Sharat, Butterworth, Jeff, George, Keith, Harding, Tim, Douglass, Andrew, Panter, Simon, Shearman, Jeremy, Bray, Gary, Butcher, Graham, Forton, Daniel, Mclindon, John, Cowan, Matthew, Whatley, Gregory, Mandal, Aditya, Gupta, Hemant, Sanghi, Pradeep, Jain, Sanjiv, Pereira, Steve, Prasad, Geeta, Watts, Gill, Wright, Mark, Neuberger, James, Gordon, Fiona, Unitt, Esther, Grant, Allister, Delahooke, Toby, Higham, Andrew, Brind, Alison, Cox, Mark, Ramakrishnan, Subramaniam, King, Alistair, Collins, Carole, Whalley, Simon, Li, Andy, Fraser, Jocelyn, Bell, Andrew, Wong, Voi Shim, Singhal, Amit, Gee, Ian, Ang, Yeng, Ransford, Rupert, Gotto, James, Millson, Charles, Bowles, Jane, Thomas, Caradog, Harrison, Melanie, Galaska, Roman, Kendall, Jennie, Whiteman, Jessica, Lawlor, Caroline, Gray, Catherine, Elliott, Keith, Mulvaney-Jones, Caroline, Hobson, Lucie, Van Duyvenvoorde, Greta, Loftus, Alison, Seward, Katie, Penn, Ruth, Maiden, Jane, Damant, Rose, Hails, Janeane, Cloudsdale, Rebecca, Silvestre, Valeria, Glenn, Sue, Dungca, Eleanor, Wheatley, Natalie, Doyle, Helen, Kent, Melanie, Hamilton, Caroline, Braim, Delyth, Wooldridge, Helen, Abrahams, Rachel, Paton, Alison, Lancaster, Nicola, Gibbins, Andrew, Hogben, Karen, Desousa, Phillipa, Muscariu, Florin, Musselwhite, Janine, McKay, Alexandra, Tan, LaiTing, Foale, Carole, Brighton, Jacqueline, Flahive, Kerry, Nambela, Estelle, Townshend, Paula, Ford, Chris, Holder, Sophie, Palmer, Caroline, Featherstone, James, Nasseri, Mariam, Sadeghian, Joy, Williams, Bronwen, Thomas, Carol, Rolls, Sally-Ann, Hynes, Abigail, Duggan, Claire, Jones, Sarah, Crossey, Mary, Stansfield, Glynis, MacNicol, Carolyn, Wilkins, Joy, Wilhelmsen, Elva, Raymode, Parizade, Lee, Hye-Jeong, Durant, Emma, Bishop, Rebecca, Ncube, Noma, Tripoli, Sherill, Casey, Rebecca, Cowley, Caroline, Miller, Richard, Houghton, Kathryn, Ducker, Samantha, Wright, Fiona, Bird, Bridget, Baxter, Gwen, Keggans, Janie, Hughes, Maggie, Grieve, Emma, Young, Karin, Williams, D., Ocker, Kate, Hines, Frances, Martin, Kirsty, Innes, Caron, Valliani, Talal, Fairlamb, Helen, Thornthwaite, Sarah, Eastick, Anne, Tanqueray, Elizabeth, Morrison, Jennifer, Holbrook, Becky, Browning, Julie, Walker, Kirsten, Congreave, Susan, Verheyden, Juliette, Slininger, Susan, Stafford, Lizzie, O’Donnell, Denise, Ainsworth, Mark, Lord, Susan, Kent, Linda, March, Linda, Dickson, Christine, Simpson, Diane, Longhurst, Beverley, Hayes, Maria, Shpuza, Ervin, White, Nikki, Besley, Sarah, Pearson, Sallyanne, Wright, Alice, Jones, Linda, Gunter, Emma, Dewhurst, Hannah, Fouracres, Anna, Farrington, Liz, Graves, Lyn, Marriott, Suzie, Leoni, Marina, Tyrer, David, Martin, Kate, Dali-kemmery, Lola, Lambourne, Victoria, Green, Marie, Sirdefield, Dawn, Amor, Kelly, Colley, Julie, Shinder, Bal, Jones, Jayne, Mills, Marisa, Carnahan, Mandy, Taylor, Natalie, Boulton, Kerenza, Tregonning, Julie, Brown, Carly, Clifford, Gayle, Archer, Emily, Hamilton, Maria, Curtis, Janette, Shewan, Tracey, Walsh, Sue, Warner, Karen, Netherton, Kimberley, Mupudzi, Mcdonald, Gunson, Bridget, Gitahi, Jane, Gocher, Denise, Batham, Sally, Pateman, Hilary, Desmennu, Senayon, Conder, Jill, Clement, Darren, Gallagher, Susan, Orpe, Jacky, Chan, PuiChing, Currie, Lynn, O’Donohoe, Lynn, Oblak, Metod, Morgan, Lisa, Quinn, Marie, Amey, Isobel, Baird, Yolanda, Cotterill, Donna, Cumlat, Lourdes, Winter, Louise, Greer, Sandra, Spurdle, Katie, Allison, Joanna, Dyer, Simon, Sweeting, Helen, Kordula, Jean, Aiba, Yoshihiro, Nakamura, Hitomi, Abiru, Seigo, Nagaoka, Shinya, Komori, Atsumasa, Yatsuhashi, Hiroshi, Ishibashi, Hiromi, Ito, Masahiro, Kawai, Yosuke, Kohn, Seik-Soon, Gervais, Olivier, Migita, Kiyoshi, Katsushima, Shinji, Naganuma, Atsushi, Sugi, Kazuhiro, Komatsu, Tatsuji, Mannami, Tomohiko, Matsushita, Kouki, Yoshizawa, Kaname, Makita, Fujio, Nikami, Toshiki, Nishimura, Hideo, Kouno, Hiroshi, Kouno, Hirotaka, Ota, Hajime, Komura, Takuya, Nakamura, Yoko, Shimada, Masaaki, Hirashima, Noboru, Komeda, Toshiki, Ario, Keisuke, Nakamuta, Makoto, Yamashita, Tsutomu, Furuta, Kiyoshi, Kikuchi, Masahiro, Naeshiro, Noriaki, Takahashi, Hironao, Mano, Yutaka, Tsunematsu, Seiji, Yabuuchi, Iwao, Shimada, Yusuke, Yamauchi, Kazuhiko, Sugimoto, Rie, Sakai, Hironori, Mita, Eiji, Koda, Masaharu, Tsuruta, Satoru, Kamitsukasa, Hiroshi, Sato, Takeaki, Masaki, Naohiko, Kobata, Tatsuro, Fukushima, Nobuyoshi, Higuchi, Nobito, Ohara, Yukio, Muro, Toyokichi, Takesaki, Eiichi, Takaki, Hitoshi, Yamamoto, Tetsuo, Kato, Michio, Nagaoki, Yuko, Hayashi, Shigeki, Ishida, Jinya, Watanabe, Yukio, Kobayashi, Masakazu, Koga, Michiaki, Saoshiro, Takeo, Yagura, Michiyasu, Hirata, Keisuke, Takikawa, Hajime, Ohira, Hiromasa, Zeniya, Mikio, Abe, Masanori, Onji, Morikazu, Kaneko, Shuichi, Honda, Masao, Arai, Kuniaki, Arinaga-Hino, Teruko, Hashimoto, Etsuko, Taniai, Makiko, Umemura, Takeji, Joshita, Satoru, Nakao, Kazuhiko, Ichikawa, Tatsuki, Shibata, Hidetaka, Yamagiwa, Satoshi, Seike, Masataka, Honda, Koichi, Sakisaka, Shotaro, Takeyama, Yasuaki, Harada, Masaru, Senju, Michio, Yokosuka, Osamu, Kanda, Tatsuo, Ueno, Yoshiyuki, Kikuchi, Kentaro, Ebinuma, Hirotoshi, Himoto, Takashi, Yasunami, Michio, Murata, Kazumoto, Mizokami, Masashi, Shimoda, Shinji, Miyake, Yasuhiro, Takaki, Akinobu, Yamamoto, Kazuhide, Hirano, Katsuji, Ichida, Takafumi, Ido, Akio, Tsubouchi, Hirohito, Chayama, Kazuaki, Harada, Kenichi, Nakanuma, Yasuni, Maehara, Yoshihiko, Taketomi, Akinobu, Shirabe, Ken, Soejima, Yuji, Mori, Akira, Yagi, Shintaro, Uemoto, Shinji, Tanaka, Tomohiro, Yamashiki, Noriyo, Tamura, Sumito, Sugawara, Yasuhiro, Kokudo, Norihiro, Asselta, Rosanna, Paraboschi, Elvezia M., Gerussi, Alessio, Cordell, Heather J., Mells, George F., Sandford, Richard N., Jones, David E., Nakamura, Minoru, Ueno, Kazuko, Hitomi, Yuki, Kawashima, Minae, Nishida, Nao, Tokunaga, Katsushi, Nagasaki, Masao, Tanaka, Atsushi, Tang, Ruqi, Li, Zhiqiang, Shi, Yongyong, Liu, Xiangdong, Xiong, Ma, Hirschfield, Gideon, Siminovitch, Katherine A., Carbone, Marco, Cardamone, Giulia, Duga, Stefano, Gershwin, M. Eric, Seldin, Michael F., and Invernizzi, Pietro

Published
2021
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7. Pretreatment prediction of response to ursodeoxycholic acid in primary biliary cholangitis: development and validation of the UDCA Response Score

Author

Thomas, Caradog, Rahman, Meshbah, Yapp, Tom, Lye Ch'ng, Chin, Harrison, Melanie, Sturgess, Richard, Galaska, Roman, Healey, Chris, Whiteman, Jessica, Czaijkowski, Marek, Gray, Catherine, Gunasekera, Anton, Gyawli, Pranab, Premchand, Purushothaman, Mann, Steven, Elliott, Keith, Kapur, Kapil, Watson, Alan, Foster, Graham, Trembling, Paul, Subhani, Javaid, Harvey, Rory, McCorry, Roger, Adgey, Carolyn, Hobson, Lucie, Mulvaney-Jones, Caroline, Evans, Richard, Mathialahan, Thiriloganathan, Ramanaden, David, Gasem, Jaber, Van Duyvenvoorde, Greta, Shorrock, Christopher, Seward, Katie, Southern, Paul, Tibble, Jeremy, Penn, Ruth, Gorard, David, Maiden, Jane, Damant, Rose, Palegwala, Altaf, Jones, Susan, Alexander, Graeme, Mells, George, Sandford, Richard, Dolwani, Sunil, Prince, Martin, Silvestre, Valeria, Foxton, Matthew, Dungca, Eleanor, Mitchison, Harriet, Wheatley, Natalie, Gooding, Ian, Doyle, Helen, Karmo, Mazn, Kent, Melanie, Saksena, Sushma, Braim, Delyth, Patel, Minesh, Lord, Susan, Ede, Roland, Paton, Alison, Austin, Andrew, Lancaster, Nicola, Sayer, Joanna, Gibbins, Andrew, Hogben, Karen, Hovell, Chris, Fisher, Neil, Carter, Martyn, Koss, Konrad, Musselwhite, Janine, Muscariu, Florin, Piotreowicz, Andrzej, McKay, Alexandra, Grimley, Charles, Neal, David, Ting Tan, Lai, Lim, Guan, Brighton, Jacqueline, Foale, Carole, Ala, Aftab, Saeed, Athar, Flahive, Kerry, Wood, Gordon, Townshend, Paula, Ford, Chris, Brown, Jonathan, Kordula, Jean, Bowles, Jane, Wilkinson, Mark, Palmer, Caroline, Ramage, John, Gordon, Harriet, Featherstone, James, Ridpath, Jo, Ngatchu, Theodore, Levi, Sass, Shaukat, Syed, Sadeghian, Joy, Shidrawi, Ray, Williams, Bronwen, Abouda, George, Jones, Sarah, Duggan, Claire, Hynes, Abigail, Narain, Mark, Rees, Ian, Salam, Imroz, Crossey, Mary, Taylor-Robinson, Simon, Brown, Ashley, MacNicol, Carolyn, Williams, Simon, Wilhelmsen, Elva, Banim, Paul, Raymode, Parizade, Chilton, Andrew, Das, Debasish, Lee, Hye-Jeong, Curtis, Howard, Heneghan, Michael, Gess, Markus, Durant, Emma, Drake, IM, Bishop, Rebecca, Davies, Mervyn, Jones, Rebecca, Aldersley, Mark, Ncube, Noma, McNair, Alistair, Srirajaskanthan, Raj, Sen, Sambit, Casey, Rebecca, Bird, George, Mendall, Mike, Cowley, Caroline, Barnardo, Adrian, Kitchen, Paul, Yoong, Kevin, Amore, Kelly, Sirdefield, Dawn, Orpe, Jacky, Mathew, Ray, MacFaul, George, Wrigth, Aruna, Shah, Amir, Evans, Chris, Keggans, Janie, Bird, Bridget, Baxter, Gwen, Saha, Subrata, Pollock, Katharine, Hughes, Maggie, Bramley, Peter, Grieve, Emma, Young, Karin, Fraser, Andrew, Mukhopadhya, Ashis, Ocker, Kate, Mills, Peter, Hines, Francis, Shallcross, Chris, Wilkins, Joy, Grellier, Leonie, Campbell, Stewart, Martin, Kirsty, Bathgate, Andrew, Innes, Caron, Shepherd, Alan, Rushbrook, Simon, Valliani, Talal, Przemioslo, Robert, Fairlamb, Helen, Macdonald, Chris, Eastick, Anne, Metcalf, Jane, Tanqueray, Elizabeth, Shmueli, Udi, Holbrook, Becky, Davis, Andrew, Browning, Julie, Naqvi, Asifabbas, Walker, Kirsten, Lee, Tom, Verheyden, Juliette, Slininger, Susan, Ryder, Stephen D, Chapman, Roger, Collier, Jane, O'Donnell, Denise, Stafford, Lizzie, Williamson, Kate, Kent, Linda, Klass, Howard, Ninkovic, Mary, March, Linda, Cramp, Matthew, Simpson, Diane, Dickson, Christine, Sharer, Nicholas, Hayes, Maria, Goggin, Patrick, Quinne, Mary, Pearson, Sallyanne, Hoeroldt, Barbara, Jones, Linda, Wright, Alice, Booth, Jonathan, Loftus, Alison, Lipscomb, George, Dewhurst, Hannah, Gunter, Emma, Williams, Earl, Fouracres, Anna, Farrington, Liz, Graves, Lyn, Hussaini, Hyder, Stableforth, Bill, Marriott, Suzie, Ayres, Reuben, Leoni, Marina, Burroughs, Andrew, Marshall, Eileen, Thorburn, Douglas, Tyrer, David, Martin, Kate, Lombard, Martin, Patanwala, Imran, Dali-Kemmery, Lola, Lambourne, Victoria, Maltby, Julia, Vyas, Samir, Colley, Julie, Shinder, Bal, Singhal, Saket, Jones, Jayne, Mills, Marisa, Gleeson, Dermot, Carnahan, Mandy, Butterworth, Jeff, Boulton, Kerenza, Taylor, Natalie, George, Keith, Harding, Tim, Tregonning, Julie, Douglass, Andrew, Brown, Carly, Clifford, Gayle, Panter, Simon, Gocher, Denise, Shearman, Jeremy, Bray, Gary, Hamilton, Maria, Butcher, Graham, Forton, Daniel, Mclindon, John, Curtis, Janette, Das, Debashis, Shewan, Tracey, Cowan, Matthew, Whatley, Gregory, Nasseri, Mariam, Grover, Bob, Sivaramakrishnan, Nurani, Ducker, Samantha, Houghton, Kathryn, Jones, David, Griffiths, Laura, Tripoli, Sherill, Pitcher, Maxton, Shpuza, Ervin, White, Nikki, Ghosh, Deb, Douds, Andrew, Green, Marie, Brookes, Matthew, Cumlat, Lourdes, Wong, Voi Shim, Warner, Karen, Netherton, Kimberley, Mandal, Adtya, Jain, Snjiv, Gupta, Hemant, Sanghi, Pradeep, Pereira, Steve, Neuberger, James, Gunson, Bridget, Hirschfield, Gideon, Lim, Reina Teegan, Gallagher, Susan, Clement, Darren, Brind, Alison, Watts, Gill, Mupudzi, Mcdonald, Wright, Mark, Gitahi, Jane, Gordon, Fiona, Gocher, Denis, Unitt, Esther, Pateman, Hilary, Batham, Sally, Delahooke, Toby, Grant, Allister, Conder, Jill, Higham, Andrew, Cox, Mark, O'Donohoe, Lynn, Currie, Lynn, King, Alistair, Oblak, Metod, Collins, Carole, Whalley, Simon, Quinn, Marie, Baird, Yolanda, Amey, Isobel, Fraser, Jocelyn, Li, Andy, Cotterill, Donna, Bell, Andrew, Singhal, Amit, Gee, Ian, Greer, Sandra, Ang, Yeng, Ransford, Rupert, Allison, Joanna, Gotto, James, Dyer, Simon, Sweeting, Helen, Millson, Charles, Invernizzi, Pietro, Carbone, Marco, Cristoferi, Laura, Bonato, Giulia, Malinverno, Federica, Bernuzzi, Francesca, Alvaro, Domenico, Labbadia, Giancarlo, Bragazzi, Maria Consiglia, Andreone, Pietro, Muratori, Luigi, Azzaroli, Francesco, Floreani, Annarosa, Galli, Andrea, Tarocchi, Mirko, Giannini, Edoardo, Miele, Luca, Gasbarrini, Antonio, Grieco, Antonio, Marrone, Giuseppe, Donato, Maria Francesca, Valenti, Luca, Marra, Fabio, Marzioni, Marco, Maroni, Luca, Rigamonti, Cristina, Zuin, Massimo, Battezzati, Pier Maria, Picciotto, Antonino, Nardi, Alessandra, Flack, Steve, Carpino, Guido, Varvaropoulou, Nikoletta, Gavrila, Caius, Spicer, Ann, Badrock, Jonathan, Cardinale, Vincenzo, Ainsworth, Holly F, Heneghan, Michael A, Neuberger, James M, Donato, Maria F, Kirby, John, Mitchell-Thain, Robert, Sampaziotis, Fotios, Gaudio, Eugenio, Ronca, Vincenzo, Gerussi, Alessio, Stocken, Deborah D, Cordell, Heather J, Hirschfield, Gideon M, Alexander, Graeme J, Sandford, Richard N, Jones, David E, and Mells, George F

Published
2018
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9. An Exploratory Analysis of TPACK Perceptions of Pre-Service Science Teachers: A Regional Australian Perspective

Author

Reyes, Vicente Chua, Rizk, Nadya, Gregory, Sue, and Doyle, Helen

Abstract

Four distinct constructs were identified from a survey of a sample of pre-service science teachers at a regional Australian University. The constructs emerged after employing Exploratory Factor Analysis (EFA) on respondents' perceptions of pedagogical practices incorporating the use of Information Communication and Technology (ICT). The key components of the survey were derived from a Technological Pedagogical and Content Knowledge (TPACK) survey developed for a national project. For future investigations of TPACK application in university contexts, a four-construct configuration of pre-service teacher TPACK perceptions is proposed requiring empirical confirmation. This inquiry depicts a portrait of emerging domains of TPACK. The relevance of the findings and their implications for universities that rely heavily on ICT in the delivery of are discussed, especially in relation to improving teaching practices.

Published
2016
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12. Resistance to Advocacy: Pre-Service Teachers Recognising the Potential of Curriculum-Based Virtual Worlds for TPACK-Framed Science Teaching

Author

Doyle, Helen and Reading, Chris

Abstract

It's time to prepare teachers to take the plunge to teach in virtual worlds. Students are already there and their teachers need to follow. Unfortunately, teachers are often resistant to change their teaching practice, especially regarding the use of Information and Communication Technology (ICT) such as virtual worlds. The authors report on the experience of a cohort of pre-service teachers who transitioned from resistance to advocacy as a consequence of immersion in a curriculum-based virtual world. Curriculum-based interactive multi-user virtual worlds contribute to learning through transformational play combining learning, playing and helping. Learners make informed decisions whilst immersed in play. A recommended virtual world is Quest Atlantis; research-based and designed for learners aged nine to sixteen. Importantly, teachers need to be convinced that teaching objectives can be met in virtual worlds. Use of the Technological Pedagogical Content Knowledges (TPACK) framework can provide such evidence. Most Significant Change Stories gathered from pre-service teachers show the pre-service teachers transforming from resistance to advocacy. Findings indicated that once the pre-service teachers experienced transformational play they realised the value of the use of virtual worlds in teaching and that play can support learning and meet teaching objectives. (Contains 1 figure.)

Published
2013

13. Teacher Educators as Learners: Enabling Learning while Developing Innovative Practice in ICT-Rich Education

Author

Reading, Chris and Doyle, Helen

Abstract

It's time for teachers to consider themselves as learners in ICT-rich learning environments and to become more aware of factors that enable their learning in such environments. The notion of teachers as learners in ICT-rich environments is not new but the focus is usually on school teachers and formal professional development, rather than teachers in universities learning as part of the change-of-practice process. This research investigated the enablers that were identified by teacher educators as most significant in the development of their Technological Pedagogical Content Knowledge (TPACK) while transforming their teaching practice. As part of the evaluation of the effectiveness of strategies implemented to improve graduating pre-service teacher ability to demonstrate innovative use of ICT in education, Most Significant Change Stories were compiled from focus group discussions with teacher educators in four curriculum areas, English, Mathematics, Science and History. The teacher educators were provided with support, an ICT Pedagogy Officer, as they planned, implemented and evaluated innovative ICT-rich learning experiences. The enablers identified by the teacher educators as contributing most significantly to their learning are explained. Findings show that there are common themes across these enablers and that not all enablers are factors over which the teacher educator has control. (Contains 2 tables.)

Published
2013

14. Conversion of the Liver into a Biofactory for DNaseI Using Adeno-Associated Virus Vector Gene Transfer Reduces Neutrophil Extracellular Traps in a Model of Systemic Lupus Erythematosus

Author

Ahmad, Amina, primary, Mandwie, Mawj, additional, O'Sullivan, Kim M., additional, Smyth, Christine, additional, York, Jarrod, additional, Doyle, Helen, additional, Holdsworth, Stephen R., additional, Pickering, Matthew C., additional, Lachmann, Peter J., additional, Alexander, Ian E., additional, and Logan, Grant J., additional

Published
2022
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15. Koroit : a heritage study

Author

Doyle, Helen.

Subjects
ComputingMilieux_COMPUTERSANDEDUCATION, ComputerApplications_COMPUTERSINOTHERSYSTEMS, Uncategorized
Abstract

This thesis was scanned from the print manuscript for digital preservation and is copyright the author. Researchers can access this thesis by asking their local university, institution or public library to make a request on their behalf. Monash staff and postgraduate students can use the link in the References field.

Published
2022
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16. Driving Change.

Author

Petrini, Gillian, Doyle, Helen, and McCauley, Steve

Subjects
SCHOOL buses, AUTISTIC children, GREENHOUSE gas mitigation, DIESEL motor exhaust gas
Abstract

FEATURES CLIMATE CHANGE IS A THREAT to human well-being and planetary health and one of the greatest challenges of our time. School bus electrification offers many physical and mental health benefits while also helping to mitigate climate change by reducing greenhouse gas emissions. Electric school buses and climate action Diesel-powered school buses emit harmful pollutants, including greenhouse gases, which are the root cause of climate change.13 Children are disproportionately at risk of climate-related health impacts. Climate change directly and indirectly affects children's physical and mental health from increasing air pollution, extreme heat and weather events, climate-related disasters, as well as climate anxiety.14 Climate anxiety is increasingly prevalent among children and youth. [Extracted from the article]

Published
2023

23. Additional file 2 of Diffuse leptomeningeal glioneuronal tumour (DLGNT) in children: the emerging role of genomic analysis

Author

Manoharan, Neevika, Ajuyah, Pamela, Senapati, Akanksha, Wong, Marie, Mullins, Anna, Rodriguez, Michael, Doyle, Helen, McCowage, Geoff, Lau, Loretta M. S., Ekert, Paul G., and Ziegler, David S.

Abstract

Additional file 2: Supplementary Figure 1: Histopathology images from case 1 demonstrating: a. high power (×400) H&E staining demonstrating tumour cells embedded in fibromyxoid stroma, b. OLIG2 stain (×200), c. synaptophysin stain (×400), CD56 stain (×400)

Published
2021
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25. X Chromosome Contribution to the Genetic Architecture of Primary Biliary Cholangitis

Author

Asselta, Rosanna, primary, Paraboschi, Elvezia M., additional, Gerussi, Alessio, additional, Cordell, Heather J., additional, Mells, George F., additional, Sandford, Richard N., additional, Jones, David E., additional, Nakamura, Minoru, additional, Ueno, Kazuko, additional, Hitomi, Yuki, additional, Kawashima, Minae, additional, Nishida, Nao, additional, Tokunaga, Katsushi, additional, Nagasaki, Masao, additional, Tanaka, Atsushi, additional, Tang, Ruqi, additional, Li, Zhiqiang, additional, Shi, Yongyong, additional, Liu, Xiangdong, additional, Xiong, Ma, additional, Hirschfield, Gideon, additional, Siminovitch, Katherine A., additional, Carbone, Marco, additional, Cardamone, Giulia, additional, Duga, Stefano, additional, Gershwin, M. Eric, additional, Seldin, Michael F., additional, Invernizzi, Pietro, additional, Walker, Erin, additional, Xie, Gang, additional, Mason, Andy, additional, Myers, Robert, additional, Peltekian, Kevork, additional, Ghent, Cameron, additional, Atkinson, Elizabeth, additional, Juran, Bruce, additional, Lazaridis, Kostas, additional, Lu, Yue, additional, Gu, Xiangjun, additional, Jing, Kaiyan, additional, Amos, Chris, additional, Affronti, Andrea, additional, Brunetto, Maurizia, additional, Coco, Barbara, additional, Spinzi, Giancarlo, additional, Elia, Gianfranco, additional, Ferrari, Carlo, additional, Lleo, Ana, additional, Muratori, Luigi, additional, Muratori, Paolo, additional, Portincasa, Piero, additional, Colli, Agostino, additional, Bruno, Savino, additional, Colloredo, Guido, additional, Azzaroli, Francesco, additional, Andreone, Pietro, additional, Bragazzi, MariaConsiglia, additional, Alvaro, Domenico, additional, Cardinale, Vincenzo, additional, Cazzagon, Nora, additional, Rigamonti, Cristina, additional, Floreani, Annarosa, additional, Rosina, Floriano, additional, Ciaccio, Antonio, additional, Cristoferi, Laura, additional, D’Amato, Daphne, additional, Malinverno, Federica, additional, Mancuso, Clara, additional, Massironi, Sara, additional, Milani, Chiara, additional, O’Donnell, Sarah E., additional, Ronca, Vincenzo, additional, Barisani, Donatella, additional, Lampertico, Pietro, additional, Donato, Francesca, additional, Fagiuoli, Stefano, additional, Almasio, Piero L., additional, Giannini, Edoardo, additional, Cursaro, Carmela, additional, Colombo, Massimo, additional, Valenti, Luca, additional, Miele, Luca, additional, Andriulli, Angelo, additional, Niro, Grazia A., additional, Grattagliano, Ignazio, additional, Morini, Lorenzo, additional, Casella, Giovanni, additional, Vinci, Maria, additional, Battezzati, Pier Maria, additional, Crosignani, Andrea, additional, Zuin, Massimo, additional, Mattalia, Alberto, additional, Calvaruso, Vincenza, additional, Colombo, Silvia, additional, Benedetti, Antonio, additional, Marzioni, Marco, additional, Galli, Andrea, additional, Marra, Fabio, additional, Tarocchi, Mirko, additional, Picciotto, Antonio, additional, Morisco, Filomena, additional, Fabris, Luca, additional, Crocè, Lory Saveria, additional, Tiribelli, Claudio, additional, Toniutto, Pierluigi, additional, Strazzabosco, Mario, additional, Ch’ng, Chin Lye, additional, Rahman, Mesbah, additional, Yapp, Tom, additional, Sturgess, Richard, additional, Healey, Christopher, additional, Czajkowski, Marek, additional, Gunasekera, Anton, additional, Gyawali, Pranab, additional, Premchand, Purushothaman, additional, Kapur, Kapil, additional, Marley, Richard, additional, Foster, Graham, additional, Watson, Alan, additional, Dias, Aruna, additional, Subhani, Javaid, additional, Harvey, Rory, additional, McCorry, Roger, additional, Ramanaden, David, additional, Gasem, Jaber, additional, Evans, Richard, additional, Mathialahan, Thiriloganathan, additional, Shorrock, Christopher, additional, Lipscomb, George, additional, Southern, Paul, additional, Tibble, Jeremy, additional, Gorard, David, additional, Palegwala, Altaf, additional, Jones, Susan, additional, Dawwas, Mohamed, additional, Alexander, Graeme, additional, Dolwani, Sunil, additional, Prince, Martin, additional, Foxton, Matthew, additional, Elphick, David, additional, Mitchison, Harriet, additional, Gooding, Ian, additional, Karmo, Mazn, additional, Saksena, Sushma, additional, Mendall, Mike, additional, Patel, Minesh, additional, Ede, Roland, additional, Austin, Andrew, additional, Sayer, Joanna, additional, Hankey, Lorraine, additional, Hovell, Christopher, additional, Fisher, Neil, additional, Carter, Martyn, additional, Koss, Konrad, additional, Piotrowicz, Andrzej, additional, Grimley, Charles, additional, Neal, David, additional, Lim, Guan, additional, Levi, Sass, additional, Ala, Aftab, additional, Broad, Andrea, additional, Saeed, Athar, additional, Wood, Gordon, additional, Brown, Jonathan, additional, Wilkinson, Mark, additional, Gordon, Harriet, additional, Ramage, John, additional, Ridpath, Jo, additional, Ngatchu, Theodore, additional, Grover, Bob, additional, Shaukat, Syed, additional, Shidrawi, Ray, additional, Abouda, George, additional, Ali, Faiz, additional, Rees, Ian, additional, Salam, Imroz, additional, Narain, Mark, additional, Brown, Ashley, additional, Taylor-Robinson, Simon, additional, Williams, Simon, additional, Grellier, Leonie, additional, Banim, Paul, additional, Das, Debasish, additional, Chilton, Andrew, additional, Heneghan, Michael, additional, Curtis, Howard, additional, Gess, Markus, additional, Drake, Ian, additional, Aldersley, Mark, additional, Davies, Mervyn, additional, Jones, Rebecca, additional, McNair, Alastair, additional, Srirajaskanthan, Raj, additional, Pitcher, Maxton, additional, Sen, Sambit, additional, Bird, George, additional, Barnardo, Adrian, additional, Kitchen, Paul, additional, Yoong, Kevin, additional, Chirag, Oza, additional, Sivaramakrishnan, Nurani, additional, MacFaul, George, additional, Jones, David, additional, Shah, Amir, additional, Evans, Chris, additional, Saha, Subrata, additional, Pollock, Katharine, additional, Bramley, Peter, additional, Mukhopadhya, Ashis, additional, Fraser, Andrew, additional, Mills, Peter, additional, Shallcross, Christopher, additional, Campbell, Stewart, additional, Bathgate, Andrew, additional, Shepherd, Alan, additional, Dillon, John, additional, Rushbrook, Simon, additional, Przemioslo, Robert, additional, Macdonald, Christopher, additional, Metcalf, Jane, additional, Shmueli, Udi, additional, Davis, Andrew, additional, Naqvi, Asifabbas, additional, Lee, Tom, additional, Ryder, Stephen D., additional, Collier, Jane, additional, Klass, Howard, additional, Ninkovic, Mary, additional, Cramp, Matthew, additional, Sharer, Nicholas, additional, Aspinall, Richard, additional, Goggin, Patrick, additional, Ghosh, Deb, additional, Douds, Andrew, additional, Hoeroldt, Barbara, additional, Booth, Jonathan, additional, Williams, Earl, additional, Hussaini, Hyder, additional, Stableforth, William, additional, Ayres, Reuben, additional, Thorburn, Douglas, additional, Marshall, Eileen, additional, Burroughs, Andrew, additional, Mann, Steven, additional, Lombard, Martin, additional, Richardson, Paul, additional, Patanwala, Imran, additional, Maltby, Julia, additional, Brookes, Matthew, additional, Mathew, Ray, additional, Vyas, Samir, additional, Singhal, Saket, additional, Gleeson, Dermot, additional, Misra, Sharat, additional, Butterworth, Jeff, additional, George, Keith, additional, Harding, Tim, additional, Douglass, Andrew, additional, Panter, Simon, additional, Shearman, Jeremy, additional, Bray, Gary, additional, Butcher, Graham, additional, Forton, Daniel, additional, Mclindon, John, additional, Cowan, Matthew, additional, Whatley, Gregory, additional, Mandal, Aditya, additional, Gupta, Hemant, additional, Sanghi, Pradeep, additional, Jain, Sanjiv, additional, Pereira, Steve, additional, Prasad, Geeta, additional, Watts, Gill, additional, Wright, Mark, additional, Neuberger, James, additional, Gordon, Fiona, additional, Unitt, Esther, additional, Grant, Allister, additional, Delahooke, Toby, additional, Higham, Andrew, additional, Brind, Alison, additional, Cox, Mark, additional, Ramakrishnan, Subramaniam, additional, King, Alistair, additional, Collins, Carole, additional, Whalley, Simon, additional, Li, Andy, additional, Fraser, Jocelyn, additional, Bell, Andrew, additional, Wong, Voi Shim, additional, Singhal, Amit, additional, Gee, Ian, additional, Ang, Yeng, additional, Ransford, Rupert, additional, Gotto, James, additional, Millson, Charles, additional, Bowles, Jane, additional, Thomas, Caradog, additional, Harrison, Melanie, additional, Galaska, Roman, additional, Kendall, Jennie, additional, Whiteman, Jessica, additional, Lawlor, Caroline, additional, Gray, Catherine, additional, Elliott, Keith, additional, Mulvaney-Jones, Caroline, additional, Hobson, Lucie, additional, Van Duyvenvoorde, Greta, additional, Loftus, Alison, additional, Seward, Katie, additional, Penn, Ruth, additional, Maiden, Jane, additional, Damant, Rose, additional, Hails, Janeane, additional, Cloudsdale, Rebecca, additional, Silvestre, Valeria, additional, Glenn, Sue, additional, Dungca, Eleanor, additional, Wheatley, Natalie, additional, Doyle, Helen, additional, Kent, Melanie, additional, Hamilton, Caroline, additional, Braim, Delyth, additional, Wooldridge, Helen, additional, Abrahams, Rachel, additional, Paton, Alison, additional, Lancaster, Nicola, additional, Gibbins, Andrew, additional, Hogben, Karen, additional, Desousa, Phillipa, additional, Muscariu, Florin, additional, Musselwhite, Janine, additional, McKay, Alexandra, additional, Tan, LaiTing, additional, Foale, Carole, additional, Brighton, Jacqueline, additional, Flahive, Kerry, additional, Nambela, Estelle, additional, Townshend, Paula, additional, Ford, Chris, additional, Holder, Sophie, additional, Palmer, Caroline, additional, Featherstone, James, additional, Nasseri, Mariam, additional, Sadeghian, Joy, additional, Williams, Bronwen, additional, Thomas, Carol, additional, Rolls, Sally-Ann, additional, Hynes, Abigail, additional, Duggan, Claire, additional, Jones, Sarah, additional, Crossey, Mary, additional, Stansfield, Glynis, additional, MacNicol, Carolyn, additional, Wilkins, Joy, additional, Wilhelmsen, Elva, additional, Raymode, Parizade, additional, Lee, Hye-Jeong, additional, Durant, Emma, additional, Bishop, Rebecca, additional, Ncube, Noma, additional, Tripoli, Sherill, additional, Casey, Rebecca, additional, Cowley, Caroline, additional, Miller, Richard, additional, Houghton, Kathryn, additional, Ducker, Samantha, additional, Wright, Fiona, additional, Bird, Bridget, additional, Baxter, Gwen, additional, Keggans, Janie, additional, Hughes, Maggie, additional, Grieve, Emma, additional, Young, Karin, additional, Williams, D., additional, Ocker, Kate, additional, Hines, Frances, additional, Martin, Kirsty, additional, Innes, Caron, additional, Valliani, Talal, additional, Fairlamb, Helen, additional, Thornthwaite, Sarah, additional, Eastick, Anne, additional, Tanqueray, Elizabeth, additional, Morrison, Jennifer, additional, Holbrook, Becky, additional, Browning, Julie, additional, Walker, Kirsten, additional, Congreave, Susan, additional, Verheyden, Juliette, additional, Slininger, Susan, additional, Stafford, Lizzie, additional, O’Donnell, Denise, additional, Ainsworth, Mark, additional, Lord, Susan, additional, Kent, Linda, additional, March, Linda, additional, Dickson, Christine, additional, Simpson, Diane, additional, Longhurst, Beverley, additional, Hayes, Maria, additional, Shpuza, Ervin, additional, White, Nikki, additional, Besley, Sarah, additional, Pearson, Sallyanne, additional, Wright, Alice, additional, Jones, Linda, additional, Gunter, Emma, additional, Dewhurst, Hannah, additional, Fouracres, Anna, additional, Farrington, Liz, additional, Graves, Lyn, additional, Marriott, Suzie, additional, Leoni, Marina, additional, Tyrer, David, additional, Martin, Kate, additional, Dali-kemmery, Lola, additional, Lambourne, Victoria, additional, Green, Marie, additional, Sirdefield, Dawn, additional, Amor, Kelly, additional, Colley, Julie, additional, Shinder, Bal, additional, Jones, Jayne, additional, Mills, Marisa, additional, Carnahan, Mandy, additional, Taylor, Natalie, additional, Boulton, Kerenza, additional, Tregonning, Julie, additional, Brown, Carly, additional, Clifford, Gayle, additional, Archer, Emily, additional, Hamilton, Maria, additional, Curtis, Janette, additional, Shewan, Tracey, additional, Walsh, Sue, additional, Warner, Karen, additional, Netherton, Kimberley, additional, Mupudzi, Mcdonald, additional, Gunson, Bridget, additional, Gitahi, Jane, additional, Gocher, Denise, additional, Batham, Sally, additional, Pateman, Hilary, additional, Desmennu, Senayon, additional, Conder, Jill, additional, Clement, Darren, additional, Gallagher, Susan, additional, Orpe, Jacky, additional, Chan, PuiChing, additional, Currie, Lynn, additional, O’Donohoe, Lynn, additional, Oblak, Metod, additional, Morgan, Lisa, additional, Quinn, Marie, additional, Amey, Isobel, additional, Baird, Yolanda, additional, Cotterill, Donna, additional, Cumlat, Lourdes, additional, Winter, Louise, additional, Greer, Sandra, additional, Spurdle, Katie, additional, Allison, Joanna, additional, Dyer, Simon, additional, Sweeting, Helen, additional, Kordula, Jean, additional, Aiba, Yoshihiro, additional, Nakamura, Hitomi, additional, Abiru, Seigo, additional, Nagaoka, Shinya, additional, Komori, Atsumasa, additional, Yatsuhashi, Hiroshi, additional, Ishibashi, Hiromi, additional, Ito, Masahiro, additional, Kawai, Yosuke, additional, Kohn, Seik-Soon, additional, Gervais, Olivier, additional, Migita, Kiyoshi, additional, Katsushima, Shinji, additional, Naganuma, Atsushi, additional, Sugi, Kazuhiro, additional, Komatsu, Tatsuji, additional, Mannami, Tomohiko, additional, Matsushita, Kouki, additional, Yoshizawa, Kaname, additional, Makita, Fujio, additional, Nikami, Toshiki, additional, Nishimura, Hideo, additional, Kouno, Hiroshi, additional, Kouno, Hirotaka, additional, Ota, Hajime, additional, Komura, Takuya, additional, Nakamura, Yoko, additional, Shimada, Masaaki, additional, Hirashima, Noboru, additional, Komeda, Toshiki, additional, Ario, Keisuke, additional, Nakamuta, Makoto, additional, Yamashita, Tsutomu, additional, Furuta, Kiyoshi, additional, Kikuchi, Masahiro, additional, Naeshiro, Noriaki, additional, Takahashi, Hironao, additional, Mano, Yutaka, additional, Tsunematsu, Seiji, additional, Yabuuchi, Iwao, additional, Shimada, Yusuke, additional, Yamauchi, Kazuhiko, additional, Sugimoto, Rie, additional, Sakai, Hironori, additional, Mita, Eiji, additional, Koda, Masaharu, additional, Tsuruta, Satoru, additional, Kamitsukasa, Hiroshi, additional, Sato, Takeaki, additional, Masaki, Naohiko, additional, Kobata, Tatsuro, additional, Fukushima, Nobuyoshi, additional, Higuchi, Nobito, additional, Ohara, Yukio, additional, Muro, Toyokichi, additional, Takesaki, Eiichi, additional, Takaki, Hitoshi, additional, Yamamoto, Tetsuo, additional, Kato, Michio, additional, Nagaoki, Yuko, additional, Hayashi, Shigeki, additional, Ishida, Jinya, additional, Watanabe, Yukio, additional, Kobayashi, Masakazu, additional, Koga, Michiaki, additional, Saoshiro, Takeo, additional, Yagura, Michiyasu, additional, Hirata, Keisuke, additional, Takikawa, Hajime, additional, Ohira, Hiromasa, additional, Zeniya, Mikio, additional, Abe, Masanori, additional, Onji, Morikazu, additional, Kaneko, Shuichi, additional, Honda, Masao, additional, Arai, Kuniaki, additional, Arinaga-Hino, Teruko, additional, Hashimoto, Etsuko, additional, Taniai, Makiko, additional, Umemura, Takeji, additional, Joshita, Satoru, additional, Nakao, Kazuhiko, additional, Ichikawa, Tatsuki, additional, Shibata, Hidetaka, additional, Yamagiwa, Satoshi, additional, Seike, Masataka, additional, Honda, Koichi, additional, Sakisaka, Shotaro, additional, Takeyama, Yasuaki, additional, Harada, Masaru, additional, Senju, Michio, additional, Yokosuka, Osamu, additional, Kanda, Tatsuo, additional, Ueno, Yoshiyuki, additional, Kikuchi, Kentaro, additional, Ebinuma, Hirotoshi, additional, Himoto, Takashi, additional, Yasunami, Michio, additional, Murata, Kazumoto, additional, Mizokami, Masashi, additional, Shimoda, Shinji, additional, Miyake, Yasuhiro, additional, Takaki, Akinobu, additional, Yamamoto, Kazuhide, additional, Hirano, Katsuji, additional, Ichida, Takafumi, additional, Ido, Akio, additional, Tsubouchi, Hirohito, additional, Chayama, Kazuaki, additional, Harada, Kenichi, additional, Nakanuma, Yasuni, additional, Maehara, Yoshihiko, additional, Taketomi, Akinobu, additional, Shirabe, Ken, additional, Soejima, Yuji, additional, Mori, Akira, additional, Yagi, Shintaro, additional, Uemoto, Shinji, additional, Tanaka, Tomohiro, additional, Yamashiki, Noriyo, additional, Tamura, Sumito, additional, Sugawara, Yasuhiro, additional, and Kokudo, Norihiro, additional

Published
2021
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28. Recurrent TTN metatranscript-only c.39974-11T>G splice variant associated with autosomal recessive arthrogryposis multiplex congenita and myopathy

Author

Bryen, Samantha J, Ewans, Lisa J, Pinner, Jason, MacLennan, Suzanna C, Donkervoort, Sandra, Castro, Diana, Töpf, Ana, O'Grady, Gina, Cummings, Beryl, Chao, Katherine R, Weisburd, Ben, Francioli, Laurent, Faiz, Fathimath, Bournazos, Adam M, Hu, Ying, Grosmann, Carla, Malicki, Denise M, Doyle, Helen, Witting, Nanna, Vissing, John, Claeys, Kristl G, Urankar, Kathryn, Beleza-Meireles, Ana, Baptista, Julia, Ellard, Sian, Savarese, Marco, Johari, Mridul, Vihola, Anna, Udd, Bjarne, Majumdar, Anirban, Straub, Volker, Bönnemann, Carsten G, MacArthur, Daniel G, Davis, Mark R, Cooper, Sandra T, Bryen, Samantha J, Ewans, Lisa J, Pinner, Jason, MacLennan, Suzanna C, Donkervoort, Sandra, Castro, Diana, Töpf, Ana, O'Grady, Gina, Cummings, Beryl, Chao, Katherine R, Weisburd, Ben, Francioli, Laurent, Faiz, Fathimath, Bournazos, Adam M, Hu, Ying, Grosmann, Carla, Malicki, Denise M, Doyle, Helen, Witting, Nanna, Vissing, John, Claeys, Kristl G, Urankar, Kathryn, Beleza-Meireles, Ana, Baptista, Julia, Ellard, Sian, Savarese, Marco, Johari, Mridul, Vihola, Anna, Udd, Bjarne, Majumdar, Anirban, Straub, Volker, Bönnemann, Carsten G, MacArthur, Daniel G, Davis, Mark R, and Cooper, Sandra T

Abstract

We present eight families with arthrogryposis multiplex congenita and myopathy bearing a TTN intron 213 extended splice-site variant (NM_001267550.1:c.39974-11T>G), inherited in trans with a second pathogenic TTN variant. Muscle-derived RNA studies of three individuals confirmed mis-splicing induced by the c.39974-11T>G variant; in-frame exon 214 skipping or use of a cryptic 3' splice-site effecting a frameshift. Confounding interpretation of pathogenicity is the absence of exons 213-217 within the described skeletal muscle TTN N2A isoform. However, RNA-sequencing from 365 adult human gastrocnemius samples revealed that 56% specimens predominantly include exons 213-217 in TTN transcripts (inclusion rate ≥66%). Further, RNA-sequencing of five fetal muscle samples confirmed that 4/5 specimens predominantly include exons 213-217 (fifth sample inclusion rate 57%). Contractures improved significantly with age for four individuals, which may be linked to decreased expression of pathogenic fetal transcripts. Our study extends emerging evidence supporting a vital developmental role for TTN isoforms containing metatranscript-only exons.

Published
2020

30. Australia Infelix: Making history in an unsettled country

Author

Doyle, Helen Wendy

Subjects
FOS: History and archaeology, ComputingMilieux_COMPUTERSANDEDUCATION, ComputerApplications_COMPUTERSINOTHERSYSTEMS, 210303 Australian History (excl. Aboriginal and Torres Strait Islander History), Uncategorized
Abstract

Drawing on the term 'Australian Felix', coined by Major Thomas Mitchell in 1836, this thesis traces its obverse, a disturbing undertone in the history of Victoria that could be called 'Australia Infelix'. It draws on contemporary documentary records, including settler narratives and reminiscences, travel-writing and local histories, to argue that European settlers' imaginings and perceptions of Victoria from the period of the 1830s to the 1930s, including its indigenous culture and landscape, reveal a preoccupation, not only about placemaking, but also with displacement and dislocation. Several factors contributed to this sense of displacement: the immigrant experience, the colonial context, and the influence of inherited models for understanding the physical landscape, principally Romanticism. I show that place and history were intimately connected in the development of ideas about identity and belonging, and that the interdependence of these two notions invited feelings of melancholy, ruin and loss, which were also key themes of contemporary European Romanticism.[…]

Published
2019
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31. Recurrent TTN metatranscript‐only c.39974–11T>G splice variant associated with autosomal recessive arthrogryposis multiplex congenita and myopathy

Author

Bryen, Samantha J., primary, Ewans, Lisa J., additional, Pinner, Jason, additional, MacLennan, Suzanna C., additional, Donkervoort, Sandra, additional, Castro, Diana, additional, Töpf, Ana, additional, O'Grady, Gina, additional, Cummings, Beryl, additional, Chao, Katherine R., additional, Weisburd, Ben, additional, Francioli, Laurent, additional, Faiz, Fathimath, additional, Bournazos, Adam M., additional, Hu, Ying, additional, Grosmann, Carla, additional, Malicki, Denise M., additional, Doyle, Helen, additional, Witting, Nanna, additional, Vissing, John, additional, Claeys, Kristl G., additional, Urankar, Kathryn, additional, Beleza‐Meireles, Ana, additional, Baptista, Julia, additional, Ellard, Sian, additional, Savarese, Marco, additional, Johari, Mridul, additional, Vihola, Anna, additional, Udd, Bjarne, additional, Majumdar, Anirban, additional, Straub, Volker, additional, Bönnemann, Carsten G., additional, MacArthur, Daniel G., additional, Davis, Mark R., additional, and Cooper, Sandra T., additional

Published
2019
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34. Is Article 26 of the Netherlands-United States Tax Treaty compatible with EC Law?

Author

Doyle, Helen

Subjects
Netherlands -- Tax policy, Tax treaties -- Interpretation and construction, Banking, finance and accounting industries, Business, Business, international
Abstract

The Netherlands-United States tax treaty is unfair in its treatment of legal and natural persons from other European Community Member States. Article 26 of the treaty is discriminatory, and actually excludes Portugal from the tax treaty. Portuguese citizens are therefore denied national treatment or right of establishment in the Netherlands.

Published
1995

37. Pretreatment prediction of response to ursodeoxycholic acid in primary biliary cholangitis: development and validation of the UDCA Response Score

Author

Carbone, Marco, primary, Nardi, Alessandra, additional, Flack, Steve, additional, Carpino, Guido, additional, Varvaropoulou, Nikoletta, additional, Gavrila, Caius, additional, Spicer, Ann, additional, Badrock, Jonathan, additional, Bernuzzi, Francesca, additional, Cardinale, Vincenzo, additional, Ainsworth, Holly F, additional, Heneghan, Michael A, additional, Thorburn, Douglas, additional, Bathgate, Andrew, additional, Jones, Rebecca, additional, Neuberger, James M, additional, Battezzati, Pier Maria, additional, Zuin, Massimo, additional, Taylor-Robinson, Simon, additional, Donato, Maria F, additional, Kirby, John, additional, Mitchell-Thain, Robert, additional, Floreani, Annarosa, additional, Sampaziotis, Fotios, additional, Muratori, Luigi, additional, Alvaro, Domenico, additional, Marzioni, Marco, additional, Miele, Luca, additional, Marra, Fabio, additional, Giannini, Edoardo, additional, Gaudio, Eugenio, additional, Ronca, Vincenzo, additional, Bonato, Giulia, additional, Cristoferi, Laura, additional, Malinverno, Federica, additional, Gerussi, Alessio, additional, Stocken, Deborah D, additional, Cordell, Heather J, additional, Hirschfield, Gideon M, additional, Alexander, Graeme J, additional, Sandford, Richard N, additional, Jones, David E, additional, Invernizzi, Pietro, additional, Mells, George F, additional, Thomas, Caradog, additional, Rahman, Meshbah, additional, Yapp, Tom, additional, Lye Ch'ng, Chin, additional, Harrison, Melanie, additional, Sturgess, Richard, additional, Galaska, Roman, additional, Healey, Chris, additional, Whiteman, Jessica, additional, Czaijkowski, Marek, additional, Gray, Catherine, additional, Gunasekera, Anton, additional, Gyawli, Pranab, additional, Premchand, Purushothaman, additional, Mann, Steven, additional, Elliott, Keith, additional, Kapur, Kapil, additional, Watson, Alan, additional, Foster, Graham, additional, Trembling, Paul, additional, Subhani, Javaid, additional, Harvey, Rory, additional, McCorry, Roger, additional, Adgey, Carolyn, additional, Hobson, Lucie, additional, Mulvaney-Jones, Caroline, additional, Evans, Richard, additional, Mathialahan, Thiriloganathan, additional, Ramanaden, David, additional, Gasem, Jaber, additional, Van Duyvenvoorde, Greta, additional, Shorrock, Christopher, additional, Seward, Katie, additional, Southern, Paul, additional, Tibble, Jeremy, additional, Penn, Ruth, additional, Gorard, David, additional, Maiden, Jane, additional, Damant, Rose, additional, Palegwala, Altaf, additional, Jones, Susan, additional, Alexander, Graeme, additional, Mells, George, additional, Sandford, Richard, additional, Dolwani, Sunil, additional, Prince, Martin, additional, Silvestre, Valeria, additional, Foxton, Matthew, additional, Dungca, Eleanor, additional, Mitchison, Harriet, additional, Wheatley, Natalie, additional, Gooding, Ian, additional, Doyle, Helen, additional, Karmo, Mazn, additional, Kent, Melanie, additional, Saksena, Sushma, additional, Braim, Delyth, additional, Patel, Minesh, additional, Lord, Susan, additional, Ede, Roland, additional, Paton, Alison, additional, Austin, Andrew, additional, Lancaster, Nicola, additional, Sayer, Joanna, additional, Gibbins, Andrew, additional, Hogben, Karen, additional, Hovell, Chris, additional, Fisher, Neil, additional, Carter, Martyn, additional, Koss, Konrad, additional, Musselwhite, Janine, additional, Muscariu, Florin, additional, Piotreowicz, Andrzej, additional, McKay, Alexandra, additional, Grimley, Charles, additional, Neal, David, additional, Ting Tan, Lai, additional, Lim, Guan, additional, Brighton, Jacqueline, additional, Foale, Carole, additional, Ala, Aftab, additional, Saeed, Athar, additional, Flahive, Kerry, additional, Wood, Gordon, additional, Townshend, Paula, additional, Ford, Chris, additional, Brown, Jonathan, additional, Kordula, Jean, additional, Bowles, Jane, additional, Wilkinson, Mark, additional, Palmer, Caroline, additional, Ramage, John, additional, Gordon, Harriet, additional, Featherstone, James, additional, Ridpath, Jo, additional, Ngatchu, Theodore, additional, Levi, Sass, additional, Shaukat, Syed, additional, Sadeghian, Joy, additional, Shidrawi, Ray, additional, Williams, Bronwen, additional, Abouda, George, additional, Jones, Sarah, additional, Duggan, Claire, additional, Hynes, Abigail, additional, Narain, Mark, additional, Rees, Ian, additional, Salam, Imroz, additional, Crossey, Mary, additional, Brown, Ashley, additional, MacNicol, Carolyn, additional, Williams, Simon, additional, Wilhelmsen, Elva, additional, Banim, Paul, additional, Raymode, Parizade, additional, Chilton, Andrew, additional, Das, Debasish, additional, Lee, Hye-Jeong, additional, Curtis, Howard, additional, Heneghan, Michael, additional, Gess, Markus, additional, Durant, Emma, additional, Drake, IM, additional, Bishop, Rebecca, additional, Davies, Mervyn, additional, Aldersley, Mark, additional, Ncube, Noma, additional, McNair, Alistair, additional, Srirajaskanthan, Raj, additional, Sen, Sambit, additional, Casey, Rebecca, additional, Bird, George, additional, Mendall, Mike, additional, Cowley, Caroline, additional, Barnardo, Adrian, additional, Kitchen, Paul, additional, Yoong, Kevin, additional, Amore, Kelly, additional, Sirdefield, Dawn, additional, Orpe, Jacky, additional, Mathew, Ray, additional, MacFaul, George, additional, Wrigth, Aruna, additional, Shah, Amir, additional, Evans, Chris, additional, Keggans, Janie, additional, Bird, Bridget, additional, Baxter, Gwen, additional, Saha, Subrata, additional, Pollock, Katharine, additional, Hughes, Maggie, additional, Bramley, Peter, additional, Grieve, Emma, additional, Young, Karin, additional, Fraser, Andrew, additional, Mukhopadhya, Ashis, additional, Ocker, Kate, additional, Mills, Peter, additional, Hines, Francis, additional, Shallcross, Chris, additional, Wilkins, Joy, additional, Grellier, Leonie, additional, Campbell, Stewart, additional, Martin, Kirsty, additional, Innes, Caron, additional, Shepherd, Alan, additional, Rushbrook, Simon, additional, Valliani, Talal, additional, Przemioslo, Robert, additional, Fairlamb, Helen, additional, Macdonald, Chris, additional, Eastick, Anne, additional, Metcalf, Jane, additional, Tanqueray, Elizabeth, additional, Shmueli, Udi, additional, Holbrook, Becky, additional, Davis, Andrew, additional, Browning, Julie, additional, Naqvi, Asifabbas, additional, Walker, Kirsten, additional, Lee, Tom, additional, Verheyden, Juliette, additional, Slininger, Susan, additional, Ryder, Stephen D, additional, Chapman, Roger, additional, Collier, Jane, additional, O'Donnell, Denise, additional, Stafford, Lizzie, additional, Williamson, Kate, additional, Kent, Linda, additional, Klass, Howard, additional, Ninkovic, Mary, additional, March, Linda, additional, Cramp, Matthew, additional, Simpson, Diane, additional, Dickson, Christine, additional, Sharer, Nicholas, additional, Hayes, Maria, additional, Goggin, Patrick, additional, Quinne, Mary, additional, Pearson, Sallyanne, additional, Hoeroldt, Barbara, additional, Jones, Linda, additional, Wright, Alice, additional, Booth, Jonathan, additional, Loftus, Alison, additional, Lipscomb, George, additional, Dewhurst, Hannah, additional, Gunter, Emma, additional, Williams, Earl, additional, Fouracres, Anna, additional, Farrington, Liz, additional, Graves, Lyn, additional, Hussaini, Hyder, additional, Stableforth, Bill, additional, Marriott, Suzie, additional, Ayres, Reuben, additional, Leoni, Marina, additional, Burroughs, Andrew, additional, Marshall, Eileen, additional, Tyrer, David, additional, Martin, Kate, additional, Lombard, Martin, additional, Patanwala, Imran, additional, Dali-Kemmery, Lola, additional, Lambourne, Victoria, additional, Maltby, Julia, additional, Vyas, Samir, additional, Colley, Julie, additional, Shinder, Bal, additional, Singhal, Saket, additional, Jones, Jayne, additional, Mills, Marisa, additional, Gleeson, Dermot, additional, Carnahan, Mandy, additional, Butterworth, Jeff, additional, Boulton, Kerenza, additional, Taylor, Natalie, additional, George, Keith, additional, Harding, Tim, additional, Tregonning, Julie, additional, Douglass, Andrew, additional, Brown, Carly, additional, Clifford, Gayle, additional, Panter, Simon, additional, Gocher, Denise, additional, Shearman, Jeremy, additional, Bray, Gary, additional, Hamilton, Maria, additional, Butcher, Graham, additional, Forton, Daniel, additional, Mclindon, John, additional, Curtis, Janette, additional, Das, Debashis, additional, Shewan, Tracey, additional, Cowan, Matthew, additional, Whatley, Gregory, additional, Nasseri, Mariam, additional, Grover, Bob, additional, Sivaramakrishnan, Nurani, additional, Ducker, Samantha, additional, Houghton, Kathryn, additional, Jones, David, additional, Griffiths, Laura, additional, Tripoli, Sherill, additional, Pitcher, Maxton, additional, Shpuza, Ervin, additional, White, Nikki, additional, Ghosh, Deb, additional, Douds, Andrew, additional, Green, Marie, additional, Brookes, Matthew, additional, Cumlat, Lourdes, additional, Wong, Voi Shim, additional, Warner, Karen, additional, Netherton, Kimberley, additional, Mandal, Adtya, additional, Jain, Snjiv, additional, Gupta, Hemant, additional, Sanghi, Pradeep, additional, Pereira, Steve, additional, Neuberger, James, additional, Gunson, Bridget, additional, Hirschfield, Gideon, additional, Lim, Reina Teegan, additional, Gallagher, Susan, additional, Clement, Darren, additional, Brind, Alison, additional, Watts, Gill, additional, Mupudzi, Mcdonald, additional, Wright, Mark, additional, Gitahi, Jane, additional, Gordon, Fiona, additional, Gocher, Denis, additional, Unitt, Esther, additional, Pateman, Hilary, additional, Batham, Sally, additional, Delahooke, Toby, additional, Grant, Allister, additional, Conder, Jill, additional, Higham, Andrew, additional, Cox, Mark, additional, O'Donohoe, Lynn, additional, Currie, Lynn, additional, King, Alistair, additional, Oblak, Metod, additional, Collins, Carole, additional, Whalley, Simon, additional, Quinn, Marie, additional, Baird, Yolanda, additional, Amey, Isobel, additional, Fraser, Jocelyn, additional, Li, Andy, additional, Cotterill, Donna, additional, Bell, Andrew, additional, Singhal, Amit, additional, Gee, Ian, additional, Greer, Sandra, additional, Ang, Yeng, additional, Ransford, Rupert, additional, Allison, Joanna, additional, Gotto, James, additional, Dyer, Simon, additional, Sweeting, Helen, additional, Millson, Charles, additional, Carbone, Marco, additional, Labbadia, Giancarlo, additional, Bragazzi, Maria Consiglia, additional, Andreone, Pietro, additional, Azzaroli, Francesco, additional, Galli, Andrea, additional, Tarocchi, Mirko, additional, Gasbarrini, Antonio, additional, Grieco, Antonio, additional, Marrone, Giuseppe, additional, Donato, Maria Francesca, additional, Valenti, Luca, additional, Maroni, Luca, additional, Rigamonti, Cristina, additional, and Picciotto, Antonino, additional

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2018
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38. Pretreatment prediction of response to ursodeoxycholic acid in primary biliary cholangitis: development and validation of the UDCA Response Score

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Carbone, M, Nardi, A, Flack, S, Carpino, G, Varvaropoulou, N, Gavrila, C, Spicer, A, Badrock, J, Bernuzzi, F, Cardinale, V, Ainsworth, H, Heneghan, M, Thorburn, D, Bathgate, A, Jones, R, Neuberger, J, Battezzati, P, Zuin, M, Taylor-Robinson, S, Donato, M, Kirby, J, Mitchell-Thain, R, Floreani, A, Sampaziotis, F, Muratori, L, Alvaro, D, Marzioni, M, Miele, L, Marra, F, Giannini, E, Gaudio, E, Ronca, V, Bonato, G, Cristoferi, L, Malinverno, F, Gerussi, A, Stocken, D, Cordell, H, Hirschfield, G, Alexander, G, Sandford, R, Jones, D, Invernizzi, P, Mells, G, Thomas, C, Rahman, M, Yapp, T, Lye Ch'ng, C, Harrison, M, Sturgess, R, Galaska, R, Healey, C, Whiteman, J, Czaijkowski, M, Gray, C, Gunasekera, A, Gyawli, P, Premchand, P, Mann, S, Elliott, K, Kapur, K, Watson, A, Foster, G, Trembling, P, Subhani, J, Harvey, R, Mccorry, R, Adgey, C, Hobson, L, Mulvaney-Jones, C, Evans, R, Mathialahan, T, Ramanaden, D, Gasem, J, Van Duyvenvoorde, G, Shorrock, C, Seward, K, Southern, P, Tibble, J, Penn, R, Gorard, D, Maiden, J, Damant, R, Palegwala, A, Jones, S, Dolwani, S, Prince, M, Silvestre, V, Foxton, M, Dungca, E, Mitchison, H, Wheatley, N, Gooding, I, Doyle, H, Karmo, M, Kent, M, Saksena, S, Braim, D, Patel, M, Lord, S, Ede, R, Paton, A, Austin, A, Lancaster, N, Sayer, J, Gibbins, A, Hogben, K, Hovell, C, Fisher, N, Carter, M, Koss, K, Musselwhite, J, Muscariu, F, Piotreowicz, A, Mckay, A, Grimley, C, Neal, D, Ting Tan, L, Lim, G, Brighton, J, Foale, C, Ala, A, Saeed, A, Flahive, K, Wood, G, Townshend, P, Ford, C, Brown, J, Kordula, J, Bowles, J, Wilkinson, M, Palmer, C, Ramage, J, Gordon, H, Featherstone, J, Ridpath, J, Ngatchu, T, Levi, S, Shaukat, S, Sadeghian, J, Shidrawi, R, Williams, B, Abouda, G, Duggan, C, Hynes, A, Narain, M, Rees, I, Salam, I, Crossey, M, Brown, A, Macnicol, C, Williams, S, Wilhelmsen, E, Banim, P, Raymode, P, Chilton, A, Das, D, Lee, H, Curtis, H, Gess, M, Durant, E, Drake, I, Bishop, R, Davies, M, Aldersley, M, Ncube, N, Mcnair, A, Srirajaskanthan, R, Sen, S, Casey, R, Bird, G, Mendall, M, Cowley, C, Barnardo, A, Kitchen, P, Yoong, K, Amore, K, Sirdefield, D, Orpe, J, Mathew, R, Macfaul, G, Wrigth, A, Shah, A, Evans, C, Keggans, J, Bird, B, Baxter, G, Saha, S, Pollock, K, Hughes, M, Bramley, P, Grieve, E, Young, K, Fraser, A, Mukhopadhya, A, Ocker, K, Mills, P, Hines, F, Shallcross, C, Wilkins, J, Grellier, L, Campbell, S, Martin, K, Innes, C, Shepherd, A, Rushbrook, S, Valliani, T, Przemioslo, R, Fairlamb, H, Macdonald, C, Eastick, A, Metcalf, J, Tanqueray, E, Shmueli, U, Holbrook, B, Davis, A, Browning, J, Naqvi, A, Walker, K, Lee, T, Verheyden, J, Slininger, S, Ryder, S, Chapman, R, Collier, J, O'Donnell, D, Stafford, L, Williamson, K, Kent, L, Klass, H, Ninkovic, M, March, L, Cramp, M, Simpson, D, Dickson, C, Sharer, N, Hayes, M, Goggin, P, Quinne, M, Pearson, S, Hoeroldt, B, Jones, L, Wright, A, Booth, J, Loftus, A, Lipscomb, G, Dewhurst, H, Gunter, E, Williams, E, Fouracres, A, Farrington, L, Graves, L, Hussaini, H, Stableforth, B, Marriott, S, Ayres, R, Leoni, M, Burroughs, A, Marshall, E, Tyrer, D, Lombard, M, Patanwala, I, Dali-Kemmery, L, Lambourne, V, Maltby, J, Vyas, S, Colley, J, Shinder, B, Singhal, S, Jones, J, Mills, M, Gleeson, D, Carnahan, M, Butterworth, J, Boulton, K, Taylor, N, George, K, Harding, T, Tregonning, J, Douglass, A, Brown, C, Clifford, G, Panter, S, Gocher, D, Shearman, J, Bray, G, Hamilton, M, Butcher, G, Forton, D, Mclindon, J, Curtis, J, Shewan, T, Cowan, M, Whatley, G, Nasseri, M, Grover, B, Sivaramakrishnan, N, Ducker, S, Houghton, K, Griffiths, L, Tripoli, S, Pitcher, M, Shpuza, E, White, N, Ghosh, D, Douds, A, Green, M, Brookes, M, Cumlat, L, Wong, V, Warner, K, Netherton, K, Mandal, A, Jain, S, Gupta, H, Sanghi, P, Pereira, S, Gunson, B, Lim, R, Gallagher, S, Clement, D, Brind, A, Watts, G, Mupudzi, M, Wright, M, Gitahi, J, Gordon, F, Unitt, E, Pateman, H, Batham, S, Delahooke, T, Grant, A, Conder, J, Higham, A, Cox, M, O'Donohoe, L, Currie, L, King, A, Oblak, M, Collins, C, Whalley, S, Quinn, M, Baird, Y, Amey, I, Fraser, J, Li, A, Cotterill, D, Bell, A, Singhal, A, Gee, I, Greer, S, Ang, Y, Ransford, R, Allison, J, Gotto, J, Dyer, S, Sweeting, H, Millson, C, Labbadia, G, Bragazzi, M, Andreone, P, Azzaroli, F, Galli, A, Tarocchi, M, Gasbarrini, A, Grieco, A, Marrone, G, Valenti, L, Maroni, L, Rigamonti, C, Picciotto, A, Carbone, Marco, Nardi, Alessandra, Flack, Steve, Carpino, Guido, Varvaropoulou, Nikoletta, Gavrila, Caius, Spicer, Ann, Badrock, Jonathan, Bernuzzi, Francesca, Cardinale, Vincenzo, Ainsworth, Holly F, Heneghan, Michael A, Thorburn, Douglas, Bathgate, Andrew, Jones, Rebecca, Neuberger, James M, Battezzati, Pier Maria, Zuin, Massimo, Taylor-Robinson, Simon, Donato, Maria F, Kirby, John, Mitchell-Thain, Robert, Floreani, Annarosa, Sampaziotis, Fotios, Muratori, Luigi, Alvaro, Domenico, Marzioni, Marco, Miele, Luca, Marra, Fabio, Giannini, Edoardo, Gaudio, Eugenio, Ronca, Vincenzo, Bonato, Giulia, Cristoferi, Laura, Malinverno, Federica, Gerussi, Alessio, Stocken, Deborah D, Cordell, Heather J, Hirschfield, Gideon M, Alexander, Graeme J, Sandford, Richard N, Jones, David E, Invernizzi, Pietro, Mells, George F, Thomas, Caradog, Rahman, Meshbah, Yapp, Tom, Lye Ch'ng, Chin, Harrison, Melanie, Sturgess, Richard, Galaska, Roman, Healey, Chris, Whiteman, Jessica, Czaijkowski, Marek, Gray, Catherine, Gunasekera, Anton, Gyawli, Pranab, Premchand, Purushothaman, Mann, Steven, Elliott, Keith, Kapur, Kapil, Watson, Alan, Foster, Graham, Trembling, Paul, Subhani, Javaid, Harvey, Rory, McCorry, Roger, Adgey, Carolyn, Hobson, Lucie, Mulvaney-Jones, Caroline, Evans, Richard, Mathialahan, Thiriloganathan, Ramanaden, David, Gasem, Jaber, Van Duyvenvoorde, Greta, Shorrock, Christopher, Seward, Katie, Southern, Paul, Tibble, Jeremy, Penn, Ruth, Gorard, David, Maiden, Jane, Damant, Rose, Palegwala, Altaf, Jones, Susan, Alexander, Graeme, Mells, George, Sandford, Richard, Dolwani, Sunil, Prince, Martin, Silvestre, Valeria, Foxton, Matthew, Dungca, Eleanor, Mitchison, Harriet, Wheatley, Natalie, Gooding, Ian, Doyle, Helen, Karmo, Mazn, Kent, Melanie, Saksena, Sushma, Braim, Delyth, Patel, Minesh, Lord, Susan, Ede, Roland, Paton, Alison, Austin, Andrew, Lancaster, Nicola, Sayer, Joanna, Gibbins, Andrew, Hogben, Karen, Hovell, Chris, Fisher, Neil, Carter, Martyn, Koss, Konrad, Musselwhite, Janine, Muscariu, Florin, Piotreowicz, Andrzej, McKay, Alexandra, Grimley, Charles, Neal, David, Ting Tan, Lai, Lim, Guan, Brighton, Jacqueline, Foale, Carole, Ala, Aftab, Saeed, Athar, Flahive, Kerry, Wood, Gordon, Townshend, Paula, Ford, Chris, Brown, Jonathan, Kordula, Jean, Bowles, Jane, Wilkinson, Mark, Palmer, Caroline, Ramage, John, Gordon, Harriet, Featherstone, James, Ridpath, Jo, Ngatchu, Theodore, Levi, Sass, Shaukat, Syed, Sadeghian, Joy, Shidrawi, Ray, Williams, Bronwen, Abouda, George, Jones, Sarah, Duggan, Claire, Hynes, Abigail, Narain, Mark, Rees, Ian, Salam, Imroz, Crossey, Mary, Brown, Ashley, MacNicol, Carolyn, Williams, Simon, Wilhelmsen, Elva, Banim, Paul, Raymode, Parizade, Chilton, Andrew, Das, Debasish, Lee, Hye-Jeong, Curtis, Howard, Heneghan, Michael, Gess, Markus, Durant, Emma, Drake, I. M., Bishop, Rebecca, Davies, Mervyn, Aldersley, Mark, Ncube, Noma, McNair, Alistair, Srirajaskanthan, Raj, Sen, Sambit, Casey, Rebecca, Bird, George, Mendall, Mike, Cowley, Caroline, Barnardo, Adrian, Kitchen, Paul, Yoong, Kevin, Amore, Kelly, Sirdefield, Dawn, Orpe, Jacky, Mathew, Ray, MacFaul, George, Wrigth, Aruna, Shah, Amir, Evans, Chris, Keggans, Janie, Bird, Bridget, Baxter, Gwen, Saha, Subrata, Pollock, Katharine, Hughes, Maggie, Bramley, Peter, Grieve, Emma, Young, Karin, Fraser, Andrew, Mukhopadhya, Ashis, Ocker, Kate, Mills, Peter, Hines, Francis, Shallcross, Chris, Wilkins, Joy, Grellier, Leonie, Campbell, Stewart, Martin, Kirsty, Innes, Caron, Shepherd, Alan, Rushbrook, Simon, Valliani, Talal, Przemioslo, Robert, Fairlamb, Helen, Macdonald, Chris, Eastick, Anne, Metcalf, Jane, Tanqueray, Elizabeth, Shmueli, Udi, Holbrook, Becky, Davis, Andrew, Browning, Julie, Naqvi, Asifabbas, Walker, Kirsten, Lee, Tom, Verheyden, Juliette, Slininger, Susan, Ryder, Stephen D, Chapman, Roger, Collier, Jane, O'Donnell, Denise, Stafford, Lizzie, Williamson, Kate, Kent, Linda, Klass, Howard, Ninkovic, Mary, March, Linda, Cramp, Matthew, Simpson, Diane, Dickson, Christine, Sharer, Nicholas, Hayes, Maria, Goggin, Patrick, Quinne, Mary, Pearson, Sallyanne, Hoeroldt, Barbara, Jones, Linda, Wright, Alice, Booth, Jonathan, Loftus, Alison, Lipscomb, George, Dewhurst, Hannah, Gunter, Emma, Williams, Earl, Fouracres, Anna, Farrington, Liz, Graves, Lyn, Hussaini, Hyder, Stableforth, Bill, Marriott, Suzie, Ayres, Reuben, Leoni, Marina, Burroughs, Andrew, Marshall, Eileen, Tyrer, David, Martin, Kate, Lombard, Martin, Patanwala, Imran, Dali-Kemmery, Lola, Lambourne, Victoria, Maltby, Julia, Vyas, Samir, Colley, Julie, Shinder, Bal, Singhal, Saket, Jones, Jayne, Mills, Marisa, Gleeson, Dermot, Carnahan, Mandy, Butterworth, Jeff, Boulton, Kerenza, Taylor, Natalie, George, Keith, Harding, Tim, Tregonning, Julie, Douglass, Andrew, Brown, Carly, Clifford, Gayle, Panter, Simon, Gocher, Denise, Shearman, Jeremy, Bray, Gary, Hamilton, Maria, Butcher, Graham, Forton, Daniel, Mclindon, John, Curtis, Janette, Das, Debashis, Shewan, Tracey, Cowan, Matthew, Whatley, Gregory, Nasseri, Mariam, Grover, Bob, Sivaramakrishnan, Nurani, Ducker, Samantha, Houghton, Kathryn, Jones, David, Griffiths, Laura, Tripoli, Sherill, Pitcher, Maxton, Shpuza, Ervin, White, Nikki, Ghosh, Deb, Douds, Andrew, Green, Marie, Brookes, Matthew, Cumlat, Lourdes, Wong, Voi Shim, Warner, Karen, Netherton, Kimberley, Mandal, Adtya, Jain, Snjiv, Gupta, Hemant, Sanghi, Pradeep, Pereira, Steve, Neuberger, James, Gunson, Bridget, Hirschfield, Gideon, Lim, Reina Teegan, Gallagher, Susan, Clement, Darren, Brind, Alison, Watts, Gill, Mupudzi, Mcdonald, Wright, Mark, Gitahi, Jane, Gordon, Fiona, Gocher, Denis, Unitt, Esther, Pateman, Hilary, Batham, Sally, Delahooke, Toby, Grant, Allister, Conder, Jill, Higham, Andrew, Cox, Mark, O'Donohoe, Lynn, Currie, Lynn, King, Alistair, Oblak, Metod, Collins, Carole, Whalley, Simon, Quinn, Marie, Baird, Yolanda, Amey, Isobel, Fraser, Jocelyn, Li, Andy, Cotterill, Donna, Bell, Andrew, Singhal, Amit, Gee, Ian, Greer, Sandra, Ang, Yeng, Ransford, Rupert, Allison, Joanna, Gotto, James, Dyer, Simon, Sweeting, Helen, Millson, Charles, Labbadia, Giancarlo, Bragazzi, Maria Consiglia, Andreone, Pietro, Azzaroli, Francesco, Galli, Andrea, Tarocchi, Mirko, Gasbarrini, Antonio, GRIECO, ANTONIO, Marrone, Giuseppe, Donato, Maria Francesca, Valenti, Luca, Maroni, Luca, Rigamonti, Cristina, Picciotto, Antonino, Carbone, M, Nardi, A, Flack, S, Carpino, G, Varvaropoulou, N, Gavrila, C, Spicer, A, Badrock, J, Bernuzzi, F, Cardinale, V, Ainsworth, H, Heneghan, M, Thorburn, D, Bathgate, A, Jones, R, Neuberger, J, Battezzati, P, Zuin, M, Taylor-Robinson, S, Donato, M, Kirby, J, Mitchell-Thain, R, Floreani, A, Sampaziotis, F, Muratori, L, Alvaro, D, Marzioni, M, Miele, L, Marra, F, Giannini, E, Gaudio, E, Ronca, V, Bonato, G, Cristoferi, L, Malinverno, F, Gerussi, A, Stocken, D, Cordell, H, Hirschfield, G, Alexander, G, Sandford, R, Jones, D, Invernizzi, P, Mells, G, Thomas, C, Rahman, M, Yapp, T, Lye Ch'ng, C, Harrison, M, Sturgess, R, Galaska, R, Healey, C, Whiteman, J, Czaijkowski, M, Gray, C, Gunasekera, A, Gyawli, P, Premchand, P, Mann, S, Elliott, K, Kapur, K, Watson, A, Foster, G, Trembling, P, Subhani, J, Harvey, R, Mccorry, R, Adgey, C, Hobson, L, Mulvaney-Jones, C, Evans, R, Mathialahan, T, Ramanaden, D, Gasem, J, Van Duyvenvoorde, G, Shorrock, C, Seward, K, Southern, P, Tibble, J, Penn, R, Gorard, D, Maiden, J, Damant, R, Palegwala, A, Jones, S, Dolwani, S, Prince, M, Silvestre, V, Foxton, M, Dungca, E, Mitchison, H, Wheatley, N, Gooding, I, Doyle, H, Karmo, M, Kent, M, Saksena, S, Braim, D, Patel, M, Lord, S, Ede, R, Paton, A, Austin, A, Lancaster, N, Sayer, J, Gibbins, A, Hogben, K, Hovell, C, Fisher, N, Carter, M, Koss, K, Musselwhite, J, Muscariu, F, Piotreowicz, A, Mckay, A, Grimley, C, Neal, D, Ting Tan, L, Lim, G, Brighton, J, Foale, C, Ala, A, Saeed, A, Flahive, K, Wood, G, Townshend, P, Ford, C, Brown, J, Kordula, J, Bowles, J, Wilkinson, M, Palmer, C, Ramage, J, Gordon, H, Featherstone, J, Ridpath, J, Ngatchu, T, Levi, S, Shaukat, S, Sadeghian, J, Shidrawi, R, Williams, B, Abouda, G, Duggan, C, Hynes, A, Narain, M, Rees, I, Salam, I, Crossey, M, Brown, A, Macnicol, C, Williams, S, Wilhelmsen, E, Banim, P, Raymode, P, Chilton, A, Das, D, Lee, H, Curtis, H, Gess, M, Durant, E, Drake, I, Bishop, R, Davies, M, Aldersley, M, Ncube, N, Mcnair, A, Srirajaskanthan, R, Sen, S, Casey, R, Bird, G, Mendall, M, Cowley, C, Barnardo, A, Kitchen, P, Yoong, K, Amore, K, Sirdefield, D, Orpe, J, Mathew, R, Macfaul, G, Wrigth, A, Shah, A, Evans, C, Keggans, J, Bird, B, Baxter, G, Saha, S, Pollock, K, Hughes, M, Bramley, P, Grieve, E, Young, K, Fraser, A, Mukhopadhya, A, Ocker, K, Mills, P, Hines, F, Shallcross, C, Wilkins, J, Grellier, L, Campbell, S, Martin, K, Innes, C, Shepherd, A, Rushbrook, S, Valliani, T, Przemioslo, R, Fairlamb, H, Macdonald, C, Eastick, A, Metcalf, J, Tanqueray, E, Shmueli, U, Holbrook, B, Davis, A, Browning, J, Naqvi, A, Walker, K, Lee, T, Verheyden, J, Slininger, S, Ryder, S, Chapman, R, Collier, J, O'Donnell, D, Stafford, L, Williamson, K, Kent, L, Klass, H, Ninkovic, M, March, L, Cramp, M, Simpson, D, Dickson, C, Sharer, N, Hayes, M, Goggin, P, Quinne, M, Pearson, S, Hoeroldt, B, Jones, L, Wright, A, Booth, J, Loftus, A, Lipscomb, G, Dewhurst, H, Gunter, E, Williams, E, Fouracres, A, Farrington, L, Graves, L, Hussaini, H, Stableforth, B, Marriott, S, Ayres, R, Leoni, M, Burroughs, A, Marshall, E, Tyrer, D, Lombard, M, Patanwala, I, Dali-Kemmery, L, Lambourne, V, Maltby, J, Vyas, S, Colley, J, Shinder, B, Singhal, S, Jones, J, Mills, M, Gleeson, D, Carnahan, M, Butterworth, J, Boulton, K, Taylor, N, George, K, Harding, T, Tregonning, J, Douglass, A, Brown, C, Clifford, G, Panter, S, Gocher, D, Shearman, J, Bray, G, Hamilton, M, Butcher, G, Forton, D, Mclindon, J, Curtis, J, Shewan, T, Cowan, M, Whatley, G, Nasseri, M, Grover, B, Sivaramakrishnan, N, Ducker, S, Houghton, K, Griffiths, L, Tripoli, S, Pitcher, M, Shpuza, E, White, N, Ghosh, D, Douds, A, Green, M, Brookes, M, Cumlat, L, Wong, V, Warner, K, Netherton, K, Mandal, A, Jain, S, Gupta, H, Sanghi, P, Pereira, S, Gunson, B, Lim, R, Gallagher, S, Clement, D, Brind, A, Watts, G, Mupudzi, M, Wright, M, Gitahi, J, Gordon, F, Unitt, E, Pateman, H, Batham, S, Delahooke, T, Grant, A, Conder, J, Higham, A, Cox, M, O'Donohoe, L, Currie, L, King, A, Oblak, M, Collins, C, Whalley, S, Quinn, M, Baird, Y, Amey, I, Fraser, J, Li, A, Cotterill, D, Bell, A, Singhal, A, Gee, I, Greer, S, Ang, Y, Ransford, R, Allison, J, Gotto, J, Dyer, S, Sweeting, H, Millson, C, Labbadia, G, Bragazzi, M, Andreone, P, Azzaroli, F, Galli, A, Tarocchi, M, Gasbarrini, A, Grieco, A, Marrone, G, Valenti, L, Maroni, L, Rigamonti, C, Picciotto, A, Carbone, Marco, Nardi, Alessandra, Flack, Steve, Carpino, Guido, Varvaropoulou, Nikoletta, Gavrila, Caius, Spicer, Ann, Badrock, Jonathan, Bernuzzi, Francesca, Cardinale, Vincenzo, Ainsworth, Holly F, Heneghan, Michael A, Thorburn, Douglas, Bathgate, Andrew, Jones, Rebecca, Neuberger, James M, Battezzati, Pier Maria, Zuin, Massimo, Taylor-Robinson, Simon, Donato, Maria F, Kirby, John, Mitchell-Thain, Robert, Floreani, Annarosa, Sampaziotis, Fotios, Muratori, Luigi, Alvaro, Domenico, Marzioni, Marco, Miele, Luca, Marra, Fabio, Giannini, Edoardo, Gaudio, Eugenio, Ronca, Vincenzo, Bonato, Giulia, Cristoferi, Laura, Malinverno, Federica, Gerussi, Alessio, Stocken, Deborah D, Cordell, Heather J, Hirschfield, Gideon M, Alexander, Graeme J, Sandford, Richard N, Jones, David E, Invernizzi, Pietro, Mells, George F, Thomas, Caradog, Rahman, Meshbah, Yapp, Tom, Lye Ch'ng, Chin, Harrison, Melanie, Sturgess, Richard, Galaska, Roman, Healey, Chris, Whiteman, Jessica, Czaijkowski, Marek, Gray, Catherine, Gunasekera, Anton, Gyawli, Pranab, Premchand, Purushothaman, Mann, Steven, Elliott, Keith, Kapur, Kapil, Watson, Alan, Foster, Graham, Trembling, Paul, Subhani, Javaid, Harvey, Rory, McCorry, Roger, Adgey, Carolyn, Hobson, Lucie, Mulvaney-Jones, Caroline, Evans, Richard, Mathialahan, Thiriloganathan, Ramanaden, David, Gasem, Jaber, Van Duyvenvoorde, Greta, Shorrock, Christopher, Seward, Katie, Southern, Paul, Tibble, Jeremy, Penn, Ruth, Gorard, David, Maiden, Jane, Damant, Rose, Palegwala, Altaf, Jones, Susan, Alexander, Graeme, Mells, George, Sandford, Richard, Dolwani, Sunil, Prince, Martin, Silvestre, Valeria, Foxton, Matthew, Dungca, Eleanor, Mitchison, Harriet, Wheatley, Natalie, Gooding, Ian, Doyle, Helen, Karmo, Mazn, Kent, Melanie, Saksena, Sushma, Braim, Delyth, Patel, Minesh, Lord, Susan, Ede, Roland, Paton, Alison, Austin, Andrew, Lancaster, Nicola, Sayer, Joanna, Gibbins, Andrew, Hogben, Karen, Hovell, Chris, Fisher, Neil, Carter, Martyn, Koss, Konrad, Musselwhite, Janine, Muscariu, Florin, Piotreowicz, Andrzej, McKay, Alexandra, Grimley, Charles, Neal, David, Ting Tan, Lai, Lim, Guan, Brighton, Jacqueline, Foale, Carole, Ala, Aftab, Saeed, Athar, Flahive, Kerry, Wood, Gordon, Townshend, Paula, Ford, Chris, Brown, Jonathan, Kordula, Jean, Bowles, Jane, Wilkinson, Mark, Palmer, Caroline, Ramage, John, Gordon, Harriet, Featherstone, James, Ridpath, Jo, Ngatchu, Theodore, Levi, Sass, Shaukat, Syed, Sadeghian, Joy, Shidrawi, Ray, Williams, Bronwen, Abouda, George, Jones, Sarah, Duggan, Claire, Hynes, Abigail, Narain, Mark, Rees, Ian, Salam, Imroz, Crossey, Mary, Brown, Ashley, MacNicol, Carolyn, Williams, Simon, Wilhelmsen, Elva, Banim, Paul, Raymode, Parizade, Chilton, Andrew, Das, Debasish, Lee, Hye-Jeong, Curtis, Howard, Heneghan, Michael, Gess, Markus, Durant, Emma, Drake, I. M., Bishop, Rebecca, Davies, Mervyn, Aldersley, Mark, Ncube, Noma, McNair, Alistair, Srirajaskanthan, Raj, Sen, Sambit, Casey, Rebecca, Bird, George, Mendall, Mike, Cowley, Caroline, Barnardo, Adrian, Kitchen, Paul, Yoong, Kevin, Amore, Kelly, Sirdefield, Dawn, Orpe, Jacky, Mathew, Ray, MacFaul, George, Wrigth, Aruna, Shah, Amir, Evans, Chris, Keggans, Janie, Bird, Bridget, Baxter, Gwen, Saha, Subrata, Pollock, Katharine, Hughes, Maggie, Bramley, Peter, Grieve, Emma, Young, Karin, Fraser, Andrew, Mukhopadhya, Ashis, Ocker, Kate, Mills, Peter, Hines, Francis, Shallcross, Chris, Wilkins, Joy, Grellier, Leonie, Campbell, Stewart, Martin, Kirsty, Innes, Caron, Shepherd, Alan, Rushbrook, Simon, Valliani, Talal, Przemioslo, Robert, Fairlamb, Helen, Macdonald, Chris, Eastick, Anne, Metcalf, Jane, Tanqueray, Elizabeth, Shmueli, Udi, Holbrook, Becky, Davis, Andrew, Browning, Julie, Naqvi, Asifabbas, Walker, Kirsten, Lee, Tom, Verheyden, Juliette, Slininger, Susan, Ryder, Stephen D, Chapman, Roger, Collier, Jane, O'Donnell, Denise, Stafford, Lizzie, Williamson, Kate, Kent, Linda, Klass, Howard, Ninkovic, Mary, March, Linda, Cramp, Matthew, Simpson, Diane, Dickson, Christine, Sharer, Nicholas, Hayes, Maria, Goggin, Patrick, Quinne, Mary, Pearson, Sallyanne, Hoeroldt, Barbara, Jones, Linda, Wright, Alice, Booth, Jonathan, Loftus, Alison, Lipscomb, George, Dewhurst, Hannah, Gunter, Emma, Williams, Earl, Fouracres, Anna, Farrington, Liz, Graves, Lyn, Hussaini, Hyder, Stableforth, Bill, Marriott, Suzie, Ayres, Reuben, Leoni, Marina, Burroughs, Andrew, Marshall, Eileen, Tyrer, David, Martin, Kate, Lombard, Martin, Patanwala, Imran, Dali-Kemmery, Lola, Lambourne, Victoria, Maltby, Julia, Vyas, Samir, Colley, Julie, Shinder, Bal, Singhal, Saket, Jones, Jayne, Mills, Marisa, Gleeson, Dermot, Carnahan, Mandy, Butterworth, Jeff, Boulton, Kerenza, Taylor, Natalie, George, Keith, Harding, Tim, Tregonning, Julie, Douglass, Andrew, Brown, Carly, Clifford, Gayle, Panter, Simon, Gocher, Denise, Shearman, Jeremy, Bray, Gary, Hamilton, Maria, Butcher, Graham, Forton, Daniel, Mclindon, John, Curtis, Janette, Das, Debashis, Shewan, Tracey, Cowan, Matthew, Whatley, Gregory, Nasseri, Mariam, Grover, Bob, Sivaramakrishnan, Nurani, Ducker, Samantha, Houghton, Kathryn, Jones, David, Griffiths, Laura, Tripoli, Sherill, Pitcher, Maxton, Shpuza, Ervin, White, Nikki, Ghosh, Deb, Douds, Andrew, Green, Marie, Brookes, Matthew, Cumlat, Lourdes, Wong, Voi Shim, Warner, Karen, Netherton, Kimberley, Mandal, Adtya, Jain, Snjiv, Gupta, Hemant, Sanghi, Pradeep, Pereira, Steve, Neuberger, James, Gunson, Bridget, Hirschfield, Gideon, Lim, Reina Teegan, Gallagher, Susan, Clement, Darren, Brind, Alison, Watts, Gill, Mupudzi, Mcdonald, Wright, Mark, Gitahi, Jane, Gordon, Fiona, Gocher, Denis, Unitt, Esther, Pateman, Hilary, Batham, Sally, Delahooke, Toby, Grant, Allister, Conder, Jill, Higham, Andrew, Cox, Mark, O'Donohoe, Lynn, Currie, Lynn, King, Alistair, Oblak, Metod, Collins, Carole, Whalley, Simon, Quinn, Marie, Baird, Yolanda, Amey, Isobel, Fraser, Jocelyn, Li, Andy, Cotterill, Donna, Bell, Andrew, Singhal, Amit, Gee, Ian, Greer, Sandra, Ang, Yeng, Ransford, Rupert, Allison, Joanna, Gotto, James, Dyer, Simon, Sweeting, Helen, Millson, Charles, Labbadia, Giancarlo, Bragazzi, Maria Consiglia, Andreone, Pietro, Azzaroli, Francesco, Galli, Andrea, Tarocchi, Mirko, Gasbarrini, Antonio, GRIECO, ANTONIO, Marrone, Giuseppe, Donato, Maria Francesca, Valenti, Luca, Maroni, Luca, Rigamonti, Cristina, and Picciotto, Antonino

Abstract

Background: Treatment guidelines recommend a stepwise approach to primary biliary cholangitis: all patients begin treatment with ursodeoxycholic acid (UDCA) monotherapy and those with an inadequate biochemical response after 12 months are subsequently considered for second-line therapies. However, as a result, patients at the highest risk can wait the longest for effective treatment. We determined whether UDCA response can be accurately predicted using pretreatment clinical parameters. Methods: We did logistic regression analysis of pretreatment variables in a discovery cohort of patients in the UK with primary biliary cholangitis to derive the best-fitting model of UDCA response, defined as alkaline phosphatase less than 1·67 times the upper limit of normal (ULN), measured after 12 months of treatment with UDCA. We validated the model in an external cohort of patients with primary biliary cholangitis and treated with UDCA in Italy. Additionally, we assessed correlations between model predictions and key histological features, such as biliary injury and fibrosis, on liver biopsy samples. Findings: 2703 participants diagnosed with primary biliary cholangitis between Jan 1, 1998, and May 31, 2015, were included in the UK-PBC cohort for derivation of the model. The following pretreatment parameters were associated with lower probability of UDCA response: higher alkaline phosphatase concentration (p<0·0001), higher total bilirubin concentration (p=0·0003), lower aminotransferase concentration (p=0·0012), younger age (p<0·0001), longer interval from diagnosis to the start of UDCA treatment (treatment time lag, p<0·0001), and worsening of alkaline phosphatase concentration from diagnosis (p<0·0001). Based on these variables, we derived a predictive score of UDCA response. In the external validation cohort, 460 patients diagnosed with primary biliary cholangitis were treated with UDCA, with follow-up data until May 31, 2016. In this validation cohort, the area under the re

Published
2018

39. Pretreatment prediction of response to ursodeoxycholic acid in primary biliary cholangitis: development and validation of the UDCA Response Score

Author

Carbone, Marco, Nardi, Alessandra, Flack, Steve, Carpino, Guido, Varvaropoulou, Nikoletta, Gavrila, Caiu, Spicer, Ann, Badrock, Jonathan, Bernuzzi, Francesca, Cardinale, Vincenzo, Ainsworth, Holly F, Heneghan, Michael A, Thorburn, Dougla, Bathgate, Andrew, Jones, Rebecca, Neuberger, James M, Battezzati, Pier Maria, Zuin, Massimo, Taylor-Robinson, Simon, Donato, Maria F, Kirby, John, Mitchell-Thain, Robert, Floreani, Annarosa, Sampaziotis, Fotio, Muratori, Luigi, Alvaro, Domenico, Marzioni, Marco, Miele, Luca, Marra, Fabio, Giannini, Edoardo, Gaudio, Eugenio, Ronca, Vincenzo, Bonato, Giulia, Cristoferi, Laura, Malinverno, Federica, Gerussi, Alessio, Stocken, Deborah D, Cordell, Heather J, Hirschfield, Gideon M, Alexander, Graeme J, Sandford, Richard N, Jones, David E, Invernizzi, Pietro, Mells, George F, Thomas, Caradog, Rahman, Meshbah, Yapp, Tom, Lye Ch'ng, Chin, Harrison, Melanie, Sturgess, Richard, Galaska, Roman, Healey, Chri, Whiteman, Jessica, Czaijkowski, Marek, Gray, Catherine, Gunasekera, Anton, Gyawli, Pranab, Premchand, Purushothaman, Mann, Steven, Elliott, Keith, Kapur, Kapil, Watson, Alan, Foster, Graham, Trembling, Paul, Subhani, Javaid, Harvey, Rory, Mccorry, Roger, Adgey, Carolyn, Hobson, Lucie, Mulvaney-Jones, Caroline, Evans, Richard, Mathialahan, Thiriloganathan, Ramanaden, David, Gasem, Jaber, Van Duyvenvoorde, Greta, Shorrock, Christopher, Seward, Katie, Southern, Paul, Tibble, Jeremy, Penn, Ruth, Gorard, David, Maiden, Jane, Damant, Rose, Palegwala, Altaf, Jones, Susan, Alexander, Graeme, Mells, George, Sandford, Richard, Dolwani, Sunil, Prince, Martin, Silvestre, Valeria, Foxton, Matthew, Dungca, Eleanor, Mitchison, Harriet, Wheatley, Natalie, Gooding, Ian, Doyle, Helen, Karmo, Mazn, Kent, Melanie, Saksena, Sushma, Braim, Delyth, Patel, Minesh, Lord, Susan, Ede, Roland, Paton, Alison, Austin, Andrew, Lancaster, Nicola, Sayer, Joanna, Gibbins, Andrew, Hogben, Karen, Hovell, Chri, Fisher, Neil, Carter, Martyn, Koss, Konrad, Musselwhite, Janine, Muscariu, Florin, Piotreowicz, Andrzej, Mckay, Alexandra, Grimley, Charle, Neal, David, Ting Tan, Lai, Lim, Guan, Brighton, Jacqueline, Foale, Carole, Ala, Aftab, Saeed, Athar, Flahive, Kerry, Wood, Gordon, Townshend, Paula, Ford, Chri, Brown, Jonathan, Kordula, Jean, Bowles, Jane, Wilkinson, Mark, Palmer, Caroline, Ramage, John, Gordon, Harriet, Featherstone, Jame, Ridpath, Jo, Ngatchu, Theodore, Levi, Sa, Shaukat, Syed, Sadeghian, Joy, Shidrawi, Ray, Williams, Bronwen, Abouda, George, Jones, Sarah, Duggan, Claire, Hynes, Abigail, Narain, Mark, Rees, Ian, Salam, Imroz, Crossey, Mary, Brown, Ashley, Macnicol, Carolyn, Williams, Simon, Wilhelmsen, Elva, Banim, Paul, Raymode, Parizade, Chilton, Andrew, Das, Debasish, Lee, Hye-Jeong, Curtis, Howard, Heneghan, Michael, Gess, Marku, Durant, Emma, Drake, I. M., Bishop, Rebecca, Davies, Mervyn, Aldersley, Mark, Ncube, Noma, Mcnair, Alistair, Srirajaskanthan, Raj, Sen, Sambit, Casey, Rebecca, Bird, George, Mendall, Mike, Cowley, Caroline, Barnardo, Adrian, Kitchen, Paul, Yoong, Kevin, Amore, Kelly, Sirdefield, Dawn, Orpe, Jacky, Mathew, Ray, Macfaul, George, Wrigth, Aruna, Shah, Amir, Evans, Chri, Keggans, Janie, Bird, Bridget, Baxter, Gwen, Saha, Subrata, Pollock, Katharine, Hughes, Maggie, Bramley, Peter, Grieve, Emma, Young, Karin, Fraser, Andrew, Mukhopadhya, Ashi, Ocker, Kate, Mills, Peter, Hines, Franci, Shallcross, Chri, Wilkins, Joy, Grellier, Leonie, Campbell, Stewart, Martin, Kirsty, Innes, Caron, Shepherd, Alan, Rushbrook, Simon, Valliani, Talal, Przemioslo, Robert, Fairlamb, Helen, Macdonald, Chri, Eastick, Anne, Metcalf, Jane, Tanqueray, Elizabeth, Shmueli, Udi, Holbrook, Becky, Davis, Andrew, Browning, Julie, Naqvi, Asifabba, Walker, Kirsten, Lee, Tom, Verheyden, Juliette, Slininger, Susan, Ryder, Stephen D, Chapman, Roger, Collier, Jane, O'Donnell, Denise, Stafford, Lizzie, Williamson, Kate, Kent, Linda, Klass, Howard, Ninkovic, Mary, March, Linda, Cramp, Matthew, Simpson, Diane, Dickson, Christine, Sharer, Nichola, Hayes, Maria, Goggin, Patrick, Quinne, Mary, Pearson, Sallyanne, Hoeroldt, Barbara, Jones, Linda, Wright, Alice, Booth, Jonathan, Loftus, Alison, Lipscomb, George, Dewhurst, Hannah, Gunter, Emma, Williams, Earl, Fouracres, Anna, Farrington, Liz, Graves, Lyn, Hussaini, Hyder, Stableforth, Bill, Marriott, Suzie, Ayres, Reuben, Leoni, Marina, Burroughs, Andrew, Marshall, Eileen, Tyrer, David, Martin, Kate, Lombard, Martin, Patanwala, Imran, Dali-Kemmery, Lola, Lambourne, Victoria, Maltby, Julia, Vyas, Samir, Colley, Julie, Shinder, Bal, Singhal, Saket, Jones, Jayne, Mills, Marisa, Gleeson, Dermot, Carnahan, Mandy, Butterworth, Jeff, Boulton, Kerenza, Taylor, Natalie, George, Keith, Harding, Tim, Tregonning, Julie, Douglass, Andrew, Brown, Carly, Clifford, Gayle, Panter, Simon, Gocher, Denise, Shearman, Jeremy, Bray, Gary, Hamilton, Maria, Butcher, Graham, Forton, Daniel, Mclindon, John, Curtis, Janette, Das, Debashi, Shewan, Tracey, Cowan, Matthew, Whatley, Gregory, Nasseri, Mariam, Grover, Bob, Sivaramakrishnan, Nurani, Ducker, Samantha, Houghton, Kathryn, Jones, David, Griffiths, Laura, Tripoli, Sherill, Pitcher, Maxton, Shpuza, Ervin, White, Nikki, Ghosh, Deb, Douds, Andrew, Green, Marie, Brookes, Matthew, Cumlat, Lourde, Wong, Voi Shim, Warner, Karen, Netherton, Kimberley, Mandal, Adtya, Jain, Snjiv, Gupta, Hemant, Sanghi, Pradeep, Pereira, Steve, Neuberger, Jame, Gunson, Bridget, Hirschfield, Gideon, Lim, Reina Teegan, Gallagher, Susan, Clement, Darren, Brind, Alison, Watts, Gill, Mupudzi, Mcdonald, Wright, Mark, Gitahi, Jane, Gordon, Fiona, Gocher, Deni, Unitt, Esther, Pateman, Hilary, Batham, Sally, Delahooke, Toby, Grant, Allister, Conder, Jill, Higham, Andrew, Cox, Mark, O'Donohoe, Lynn, Currie, Lynn, King, Alistair, Oblak, Metod, Collins, Carole, Whalley, Simon, Quinn, Marie, Baird, Yolanda, Amey, Isobel, Fraser, Jocelyn, Li, Andy, Cotterill, Donna, Bell, Andrew, Singhal, Amit, Gee, Ian, Greer, Sandra, Ang, Yeng, Ransford, Rupert, Allison, Joanna, Gotto, Jame, Dyer, Simon, Sweeting, Helen, Millson, Charle, Labbadia, Giancarlo, Bragazzi, Maria Consiglia, Andreone, Pietro, Azzaroli, Francesco, Galli, Andrea, Tarocchi, Mirko, Gasbarrini, Antonio, Grieco, Antonio, Marrone, Giuseppe, Donato, Maria Francesca, Valenti, Luca, Maroni, Luca, Rigamonti, Cristina, Picciotto, Antonino, Miele, Luca (ORCID:0000-0003-3464-0068), Gasbarrini, Antonio (ORCID:0000-0002-7278-4823), Grieco, Antonio (ORCID:0000-0002-0544-8993), Carbone, Marco, Nardi, Alessandra, Flack, Steve, Carpino, Guido, Varvaropoulou, Nikoletta, Gavrila, Caiu, Spicer, Ann, Badrock, Jonathan, Bernuzzi, Francesca, Cardinale, Vincenzo, Ainsworth, Holly F, Heneghan, Michael A, Thorburn, Dougla, Bathgate, Andrew, Jones, Rebecca, Neuberger, James M, Battezzati, Pier Maria, Zuin, Massimo, Taylor-Robinson, Simon, Donato, Maria F, Kirby, John, Mitchell-Thain, Robert, Floreani, Annarosa, Sampaziotis, Fotio, Muratori, Luigi, Alvaro, Domenico, Marzioni, Marco, Miele, Luca, Marra, Fabio, Giannini, Edoardo, Gaudio, Eugenio, Ronca, Vincenzo, Bonato, Giulia, Cristoferi, Laura, Malinverno, Federica, Gerussi, Alessio, Stocken, Deborah D, Cordell, Heather J, Hirschfield, Gideon M, Alexander, Graeme J, Sandford, Richard N, Jones, David E, Invernizzi, Pietro, Mells, George F, Thomas, Caradog, Rahman, Meshbah, Yapp, Tom, Lye Ch'ng, Chin, Harrison, Melanie, Sturgess, Richard, Galaska, Roman, Healey, Chri, Whiteman, Jessica, Czaijkowski, Marek, Gray, Catherine, Gunasekera, Anton, Gyawli, Pranab, Premchand, Purushothaman, Mann, Steven, Elliott, Keith, Kapur, Kapil, Watson, Alan, Foster, Graham, Trembling, Paul, Subhani, Javaid, Harvey, Rory, Mccorry, Roger, Adgey, Carolyn, Hobson, Lucie, Mulvaney-Jones, Caroline, Evans, Richard, Mathialahan, Thiriloganathan, Ramanaden, David, Gasem, Jaber, Van Duyvenvoorde, Greta, Shorrock, Christopher, Seward, Katie, Southern, Paul, Tibble, Jeremy, Penn, Ruth, Gorard, David, Maiden, Jane, Damant, Rose, Palegwala, Altaf, Jones, Susan, Alexander, Graeme, Mells, George, Sandford, Richard, Dolwani, Sunil, Prince, Martin, Silvestre, Valeria, Foxton, Matthew, Dungca, Eleanor, Mitchison, Harriet, Wheatley, Natalie, Gooding, Ian, Doyle, Helen, Karmo, Mazn, Kent, Melanie, Saksena, Sushma, Braim, Delyth, Patel, Minesh, Lord, Susan, Ede, Roland, Paton, Alison, Austin, Andrew, Lancaster, Nicola, Sayer, Joanna, Gibbins, Andrew, Hogben, Karen, Hovell, Chri, Fisher, Neil, Carter, Martyn, Koss, Konrad, Musselwhite, Janine, Muscariu, Florin, Piotreowicz, Andrzej, Mckay, Alexandra, Grimley, Charle, Neal, David, Ting Tan, Lai, Lim, Guan, Brighton, Jacqueline, Foale, Carole, Ala, Aftab, Saeed, Athar, Flahive, Kerry, Wood, Gordon, Townshend, Paula, Ford, Chri, Brown, Jonathan, Kordula, Jean, Bowles, Jane, Wilkinson, Mark, Palmer, Caroline, Ramage, John, Gordon, Harriet, Featherstone, Jame, Ridpath, Jo, Ngatchu, Theodore, Levi, Sa, Shaukat, Syed, Sadeghian, Joy, Shidrawi, Ray, Williams, Bronwen, Abouda, George, Jones, Sarah, Duggan, Claire, Hynes, Abigail, Narain, Mark, Rees, Ian, Salam, Imroz, Crossey, Mary, Brown, Ashley, Macnicol, Carolyn, Williams, Simon, Wilhelmsen, Elva, Banim, Paul, Raymode, Parizade, Chilton, Andrew, Das, Debasish, Lee, Hye-Jeong, Curtis, Howard, Heneghan, Michael, Gess, Marku, Durant, Emma, Drake, I. M., Bishop, Rebecca, Davies, Mervyn, Aldersley, Mark, Ncube, Noma, Mcnair, Alistair, Srirajaskanthan, Raj, Sen, Sambit, Casey, Rebecca, Bird, George, Mendall, Mike, Cowley, Caroline, Barnardo, Adrian, Kitchen, Paul, Yoong, Kevin, Amore, Kelly, Sirdefield, Dawn, Orpe, Jacky, Mathew, Ray, Macfaul, George, Wrigth, Aruna, Shah, Amir, Evans, Chri, Keggans, Janie, Bird, Bridget, Baxter, Gwen, Saha, Subrata, Pollock, Katharine, Hughes, Maggie, Bramley, Peter, Grieve, Emma, Young, Karin, Fraser, Andrew, Mukhopadhya, Ashi, Ocker, Kate, Mills, Peter, Hines, Franci, Shallcross, Chri, Wilkins, Joy, Grellier, Leonie, Campbell, Stewart, Martin, Kirsty, Innes, Caron, Shepherd, Alan, Rushbrook, Simon, Valliani, Talal, Przemioslo, Robert, Fairlamb, Helen, Macdonald, Chri, Eastick, Anne, Metcalf, Jane, Tanqueray, Elizabeth, Shmueli, Udi, Holbrook, Becky, Davis, Andrew, Browning, Julie, Naqvi, Asifabba, Walker, Kirsten, Lee, Tom, Verheyden, Juliette, Slininger, Susan, Ryder, Stephen D, Chapman, Roger, Collier, Jane, O'Donnell, Denise, Stafford, Lizzie, Williamson, Kate, Kent, Linda, Klass, Howard, Ninkovic, Mary, March, Linda, Cramp, Matthew, Simpson, Diane, Dickson, Christine, Sharer, Nichola, Hayes, Maria, Goggin, Patrick, Quinne, Mary, Pearson, Sallyanne, Hoeroldt, Barbara, Jones, Linda, Wright, Alice, Booth, Jonathan, Loftus, Alison, Lipscomb, George, Dewhurst, Hannah, Gunter, Emma, Williams, Earl, Fouracres, Anna, Farrington, Liz, Graves, Lyn, Hussaini, Hyder, Stableforth, Bill, Marriott, Suzie, Ayres, Reuben, Leoni, Marina, Burroughs, Andrew, Marshall, Eileen, Tyrer, David, Martin, Kate, Lombard, Martin, Patanwala, Imran, Dali-Kemmery, Lola, Lambourne, Victoria, Maltby, Julia, Vyas, Samir, Colley, Julie, Shinder, Bal, Singhal, Saket, Jones, Jayne, Mills, Marisa, Gleeson, Dermot, Carnahan, Mandy, Butterworth, Jeff, Boulton, Kerenza, Taylor, Natalie, George, Keith, Harding, Tim, Tregonning, Julie, Douglass, Andrew, Brown, Carly, Clifford, Gayle, Panter, Simon, Gocher, Denise, Shearman, Jeremy, Bray, Gary, Hamilton, Maria, Butcher, Graham, Forton, Daniel, Mclindon, John, Curtis, Janette, Das, Debashi, Shewan, Tracey, Cowan, Matthew, Whatley, Gregory, Nasseri, Mariam, Grover, Bob, Sivaramakrishnan, Nurani, Ducker, Samantha, Houghton, Kathryn, Jones, David, Griffiths, Laura, Tripoli, Sherill, Pitcher, Maxton, Shpuza, Ervin, White, Nikki, Ghosh, Deb, Douds, Andrew, Green, Marie, Brookes, Matthew, Cumlat, Lourde, Wong, Voi Shim, Warner, Karen, Netherton, Kimberley, Mandal, Adtya, Jain, Snjiv, Gupta, Hemant, Sanghi, Pradeep, Pereira, Steve, Neuberger, Jame, Gunson, Bridget, Hirschfield, Gideon, Lim, Reina Teegan, Gallagher, Susan, Clement, Darren, Brind, Alison, Watts, Gill, Mupudzi, Mcdonald, Wright, Mark, Gitahi, Jane, Gordon, Fiona, Gocher, Deni, Unitt, Esther, Pateman, Hilary, Batham, Sally, Delahooke, Toby, Grant, Allister, Conder, Jill, Higham, Andrew, Cox, Mark, O'Donohoe, Lynn, Currie, Lynn, King, Alistair, Oblak, Metod, Collins, Carole, Whalley, Simon, Quinn, Marie, Baird, Yolanda, Amey, Isobel, Fraser, Jocelyn, Li, Andy, Cotterill, Donna, Bell, Andrew, Singhal, Amit, Gee, Ian, Greer, Sandra, Ang, Yeng, Ransford, Rupert, Allison, Joanna, Gotto, Jame, Dyer, Simon, Sweeting, Helen, Millson, Charle, Labbadia, Giancarlo, Bragazzi, Maria Consiglia, Andreone, Pietro, Azzaroli, Francesco, Galli, Andrea, Tarocchi, Mirko, Gasbarrini, Antonio, Grieco, Antonio, Marrone, Giuseppe, Donato, Maria Francesca, Valenti, Luca, Maroni, Luca, Rigamonti, Cristina, Picciotto, Antonino, Miele, Luca (ORCID:0000-0003-3464-0068), Gasbarrini, Antonio (ORCID:0000-0002-7278-4823), and Grieco, Antonio (ORCID:0000-0002-0544-8993)

Abstract

Background: Treatment guidelines recommend a stepwise approach to primary biliary cholangitis: all patients begin treatment with ursodeoxycholic acid (UDCA) monotherapy and those with an inadequate biochemical response after 12 months are subsequently considered for second-line therapies. However, as a result, patients at the highest risk can wait the longest for effective treatment. We determined whether UDCA response can be accurately predicted using pretreatment clinical parameters. Methods: We did logistic regression analysis of pretreatment variables in a discovery cohort of patients in the UK with primary biliary cholangitis to derive the best-fitting model of UDCA response, defined as alkaline phosphatase less than 1·67 times the upper limit of normal (ULN), measured after 12 months of treatment with UDCA. We validated the model in an external cohort of patients with primary biliary cholangitis and treated with UDCA in Italy. Additionally, we assessed correlations between model predictions and key histological features, such as biliary injury and fibrosis, on liver biopsy samples. Findings: 2703 participants diagnosed with primary biliary cholangitis between Jan 1, 1998, and May 31, 2015, were included in the UK-PBC cohort for derivation of the model. The following pretreatment parameters were associated with lower probability of UDCA response: higher alkaline phosphatase concentration (p<0·0001), higher total bilirubin concentration (p=0·0003), lower aminotransferase concentration (p=0·0012), younger age (p<0·0001), longer interval from diagnosis to the start of UDCA treatment (treatment time lag, p<0·0001), and worsening of alkaline phosphatase concentration from diagnosis (p<0·0001). Based on these variables, we derived a predictive score of UDCA response. In the external validation cohort, 460 patients diagnosed with primary biliary cholangitis were treated with UDCA, with follow-up data until May 31, 2016. In this validation cohort, the area under the re

Published
2018

43. Healthy Schools, Bright Futures.

Author

Doyle, Helen, Phipps, Erica, and Blumer, Lella

Subjects
URBAN health, RAINSTORMS, BUS transportation, CLIMATE change, CLIMATE change mitigation, CLIMATE change & health, MEDICAL personnel
Abstract

For example, a climate adaptation measure relating to extreme heat and air quality could include a school policy of checking Extreme Weather Warnings and Air Quality Health Index forecasts and using these advisories to guide decisions about outdoor activities. Mitigation - Countdown towards net-zero emissions While broad-scale aggressive action is needed to achieve net-zero greenhouse gas emissions, there are things that individuals and communities can do to directly and/or indirectly reduce emissions and mitigate climate change. These are also win-win-win actions as they reduce GHG emissions, protect our planet, and provide multiple health benefits for you and your school community. For more information on how to protect children from the health impacts of climate change, check out OPHA's climate action campaign: www.makeitbetterontario.ca.Got a cool project or curriculum idea to share?. [Extracted from the article]

Published
2020

44. Recurrent TTN metatranscript‐only c.39974–11T>G splice variant associated with autosomal recessive arthrogryposis multiplex congenita and myopathy.

Author

Bryen, Samantha J., Ewans, Lisa J., Pinner, Jason, MacLennan, Suzanna C., Donkervoort, Sandra, Castro, Diana, Töpf, Ana, O'Grady, Gina, Cummings, Beryl, Chao, Katherine R., Weisburd, Ben, Francioli, Laurent, Faiz, Fathimath, Bournazos, Adam M., Hu, Ying, Grosmann, Carla, Malicki, Denise M., Doyle, Helen, Witting, Nanna, and Vissing, John

Abstract

We present eight families with arthrogryposis multiplex congenita and myopathy bearing a TTN intron 213 extended splice‐site variant (NM_001267550.1:c.39974‐11T>G), inherited in trans with a second pathogenic TTN variant. Muscle‐derived RNA studies of three individuals confirmed mis‐splicing induced by the c.39974‐11T>G variant; in‐frame exon 214 skipping or use of a cryptic 3′ splice‐site effecting a frameshift. Confounding interpretation of pathogenicity is the absence of exons 213‐217 within the described skeletal muscle TTN N2A isoform. However, RNA‐sequencing from 365 adult human gastrocnemius samples revealed that 56% specimens predominantly include exons 213‐217 in TTN transcripts (inclusion rate ≥66%). Further, RNA‐sequencing of five fetal muscle samples confirmed that 4/5 specimens predominantly include exons 213‐217 (fifth sample inclusion rate 57%). Contractures improved significantly with age for four individuals, which may be linked to decreased expression of pathogenic fetal transcripts. Our study extends emerging evidence supporting a vital developmental role for TTN isoforms containing metatranscript‐only exons. [ABSTRACT FROM AUTHOR]

Published
2020
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46. The Reality of Open-Access Journal Articles

Author

Gass, Andy and Doyle, Helen

Subjects
Scholarly publishing -- Forecasts and trends -- Evaluation, Peer review -- Evaluation -- Forecasts and trends, Open access journals -- Forecasts and trends, Education, Market trend/market analysis, Evaluation, Forecasts and trends
Abstract

Byline: ANDY GASS and HELEN DOYLE Although reasonable people can undoubtedly disagree about aspects of open-access publishing -- generally speaking, making journal articles available online at no charge -- one [...]

Published
2005

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