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103. Landscape of Familial Isolated and Young-Onset Pituitary Adenomas: Prospective Diagnosis in AIP Mutation Carriers

Author

Hernández-Ramírez, Laura C., Gabrovska, Plamena, Dénes, Judit, Stals, Karen, Trivellin, Giampaolo, Tilley, Daniel, Ferraù, Francesco, Evanson, Jane, Ellard, Sian, Grossman, Ashley B., Roncaroli, Federico, Gadelha, Mônica R., Korbonits, Márta, Agha, Amar, Akker, Scott A., Aflorei, Elena D., Alföldi, Sándor, Arlt, Wiebke, Atkinson, Brew, Aulinas-Masó, Anna, Aylwin, Simon J., Backeljauw, Philippe F., Badiu, Corin, Baldeweg, Stephanie, Bano, Gul, Barkan, Ariel, Barwell, Julian, Bernal-González, Carmen, Besser, G. Michael, Bevan, John S., Blair, Jo, Bouloux, Pierre, Bradley, Lisa, Buchfelder, Michael, Cakir, Mehtap, Canham, Natalie, Carroll, Paul, Chahal, Harvinder S., Cheetham, Tim, Chentli, Farida, Clayton, Richard N., Cohen, Mark, Cole, Trevor, Courtney, Hamish, Crowne, Elizabeth, Cuthbertson, Daniel, Dal, Jacob, Dalantaeva, Nadezhda, Daousi, Christina, Darzy, Ken, Dattani, Mehul, Davies, Justin H., Davis, Julian, De Castro, Margaret, De Marinis, Laura, Drake, William, Dutta, Pinaki, Dzeranova, Larisa, Edén-Engström, Britt, Eeles, Rosalind, Elfving, Maria, Elston, Marianne, Emmerson, Louise, Fersht, Naomi, Fica, Simona, Fischli, Stefan, Flanagan, Daniel, Fleseriu, Maria, Freda, Pamela U., Friedman, Theodore, Frohman, Lawrence A., Gallego, Patricia, Gevers, Evelien, Gláz, Edit, Goldman, James A., Goldstone, Anthony P., Goth, Miklos, Greenhalgh, Lynn, Grieve, Joan, Guitelman, Mirtha, Gürlek, Alper, Gurnell, Mark, Horvath, Katalin, Howlett, Trevor A., Höybye, Charlotte, Hunter, Steven, Iacovazzo, Donato, Igaz, Peter, Inder, Warrick J., Iwata, Takeo, Izatt, Louise, Jagadeesh, Sujatha, Kaltsas, Gregory, Kaplan, Felicity, Karavitaki, Niki, Kastelan, Darko, Katz, Michelle, Kearney, Tara, Khoo, Bernard, Kiraly-Borri, Cathy, Knispelis, Robertas, Kovács, Gábor László, Kumar, Ajith V., Laws, Edward R., Jr, Lechan, Ronald M., Levy, Miles J., Lewandowski, Krzysztof, Lo, Janet, Maartens, Niki, Matsuno, Akira, McGowan, Barbara, McQuaid, Siobhán E., Medic-Stojanoska, Milica, Mercado-Atri, Moisés, Mezősi, Emese, Miljic, Dragana, Miller, Karen K., Modenesi, Silvia, Molitch, Mark E., Monson, John, Morris, Damian G., Morrison, Patrick J., Munir, Alia, Murray, Robert D., Musat, Madalina, Musolino, Nina, Nachtigall, Lisa, Newell-Price, John, Ogilvie, Arla, Orme, Steve M., Paşcanu, Ionela, Patócs, Attila, Patterson, Catherine, Pearce, Simon H., Pecori Giraldi, Francesca, Pfeifer, Marija, Popovic, Vera, Poplawski, Nicola, Powell, Michael, Pullan, Peter, Quinton, Richard, Radian, Serban, Randeva, Harpal, Ribeiro-Oliveira, Antônio, Jr, Rodd, Celia, Ryan, Fiona, Salvatori, Roberto, Schöfl, Christof, Shears, Debbie, Shotliff, Kevin, Soares, Beatriz S., Somasundaram, Noel, Spada, Anna, Sperber, James, Spoudeas, Helen A., Stewart, Susan, Storr, Helen, Strasburger, Christian, Street, Maria Elisabeth, Swords, Francesca, Thakker, Rajesh V., Tham, Elaine, Thompson, Chris, Thorner, Dr Michael O., Tóth, Miklós, Trainer, Peter J., Tsagarakis, Stylianos, Tzanela, Marinella, Vadász, János, Vaks, Vladimir, Verkauskiene, Rasa, Wass, John A., Webb, Susan M., Weber, Astrid, Yamada, Shozo, Yarman, Sema, Yeoh, Philip, Yoshimoto, Katsuhiko, and Zammitt, Nicola N.

Published
2015

104. EXPERT CONSENSUS DOCUMENT: European Consensus Statement on congenital hypogonadotropic hypogonadism —pathogenesis, diagnosis and treatment

Author

Boehm, Ulrich, Bouloux, Pierre-Marc, Dattani, Mehul T., Roux, Nicolas de, Dodé, Catherine, Dunkel, Leo, Dwyer, Andrew A., Giacobini, Paolo, Hardelin, Jean-Pierre, Juul, Anders, Maghnie, Mohamad, Pitteloud, Nelly, Prevot, Vincent, Raivio, Taneli, Tena-Sempere, Manuel, Quinton, Richard, and Young, Jacques

Published
2015
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106. Rare variants in single-minded 1 (SIM1) are associated with severe obesity

Author

Ramachandrappa, Shwetha, Raimondo, Anne, Cali, Anna M.G., Keogh, Julia M., Henning, Elana, Saeed, Sadia, Thompson, Amanda, Garg, Sumedha, Bochukova, Elena G., Brage, Soren, Trowse, Victoria, Wheeler, Eleanor, Sullivan, Adrienne E., Dattani, Mehul, Clayton, Peter E., Datta, Vippan, Bruning, John B., Wareham, Nick J., O'Rahilly, Stephen, Peet, Daniel J., Barroso, Ines, Whitelaw, Murray L., and Farooqi, I. Sadaf

Subjects
Obesity -- Genetic aspects, Genetic research, Genetic transcription -- Research, Hypothalamus -- Genetic aspects -- Physiological aspects, Health care industry
Abstract

Single-minded 1 (SIM1) is a basic helix-loop-helix transcription factor involved in the development and function of the paraventricular nucleus of the hypothalamus. Obesity has been reported in Sim1 haploinsufficient mice [...]

Published
2013
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109. Contributors

Author

Backeljauw, Philippe F., primary, Battelino, Tadej, additional, Bondy, Carolyn A., additional, Chandler, Donald Walt, additional, Chia, Dennis J., additional, Chun, Kelly Y., additional, Cohen, Pinchas, additional, Cooke, David W., additional, Couch, Sarah C., additional, Daniels, Stephen R., additional, Dattani, Mehul Tulsidas, additional, De Leo´n, Diva D., additional, Deladoëy, Johnny, additional, Diamond, Frank B., additional, Dunkel, Leo, additional, Flück, Christa E., additional, Haller, Michael J., additional, Kublaoui, Bassil, additional, Langdon, David R., additional, Lee, Peter A., additional, Levine, Michael A., additional, Lustig, Robert H., additional, Majzoub, Joseph A., additional, Menon, Ram K., additional, Miller, Walter L., additional, Muglia, Louis J., additional, Nakamoto, Jon, additional, Palmert, Mark R., additional, Pepkowitz, Samuel H., additional, Phillip, Moshe, additional, Radovick, Sally, additional, Rapaport, Robert, additional, Rivkees, Scott A., additional, Root, Allen W., additional, Rosenfeld, Ron G., additional, Rosenfield, Robert L., additional, Saenger, Paul, additional, Schatz, Desmond A., additional, Sperling, Mark A., additional, Srivatsa, Abhinash, additional, Stanley, Charles A., additional, Stratakis, Constantine A., additional, Tamborlane, William V., additional, Thornton, Paul S., additional, Trucco, Massimo, additional, Vliet, Guy Van, additional, Waguespack, Steven G., additional, Weinzimer, Stuart A., additional, Weiss, Ram, additional, Winter, William E., additional, Witchel, Selma Feldman, additional, and Ying, Anita K., additional

Published
2014
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110. ZSWIM7Is Associated With Human Female Meiosis and Familial Primary Ovarian Insufficiency

Author

McGlacken-Byrne, Sinéad M, primary, Le Quesne Stabej, Polona, additional, Del Valle, Ignacio, additional, Ocaka, Louise, additional, Gagunashvili, Andrey, additional, Crespo, Berta, additional, Moreno, Nadjeda, additional, James, Chela, additional, Bacchelli, Chiara, additional, Dattani, Mehul T, additional, Williams, Hywel J, additional, Kelberman, Dan, additional, Achermann, John C, additional, and Conway, Gerard S, additional

Published
2021
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111. Germ Line Mutations in the Thyroid Hormone Receptor Alpha Gene Predispose to Cutaneous Tags and Melanocytic Nevi

Author

Di Cicco, Emery, primary, Moran, Carla, additional, Visser, W. Edward, additional, Nappi, Annarita, additional, Schoenmakers, Erik, additional, Todd, Pamela, additional, Lyons, Greta, additional, Dattani, Mehul, additional, Ambrosio, Raffaele, additional, Parisi, Silvia, additional, Salvatore, Domenico, additional, Chatterjee, Krishna, additional, and Dentice, Monica, additional

Published
2021
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112. The phenotypic spectrum associated with OTX2 mutations in humans

Author

Gregory, Louise C, primary, Gergics, Peter, additional, Nakaguma, Marilena, additional, Bando, Hironori, additional, Patti, Giuseppa, additional, McCabe, Mark J, additional, Fang, Qing, additional, Ma, Qianyi, additional, Ozel, Ayse Bilge, additional, Li, Jun Z, additional, Poina, Michele Moreira, additional, Jorge, Alexander A L, additional, Benedetti, Anna F Figueredo, additional, Lerario, Antonio M, additional, Arnhold, Ivo J P, additional, Mendonca, Berenice B, additional, Maghnie, Mohamad, additional, Camper, Sally A, additional, Carvalho, Luciani R S, additional, and Dattani, Mehul T, additional

Published
2021
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113. Five Studies in Developmental Endocrinology: Ætiological, Clinical, and Outcome aspects

Author

Heinrichs, Claudine, Van Vliet, G., Casimir, Georges, Dattani, Mehul D.M., Cools, Martine C.M., Hainaut, Marc, Ismaili, Khalid, Migeotte, Isabelle, Brachet, Cécile, Heinrichs, Claudine, Van Vliet, G., Casimir, Georges, Dattani, Mehul D.M., Cools, Martine C.M., Hainaut, Marc, Ismaili, Khalid, Migeotte, Isabelle, and Brachet, Cécile

Abstract

Les affections endocriniennes du développement sont des maladies rares que soigne et étudiele pédiatre-endocrinologue. Elles nous renseignent sur de nombreux aspects du développement normalet du fonctionnement du système endocrinien.Ce travail regroupe des études cliniques qui concernent différentes glandes endocrines. Toutd’abord l’hypophyse, dont trois aspects sont abordés. Une nouvelle étiologie d’hypopituitarismecongénital syndromique associant anophtalmie et fente palatine est décrite. Le gène impliqué, RAX, estconservé chez tous les vertébrés et était connu chez l’homme pour donner une anophtalmie isolée.L’étude fait le parallélisme entre les phénotypes humain et murin, qui sont remarquablement similaires.Un autre aspect de la pathologie du développement hypophysaire est illustré par une étude del’hypopituitarisme congénital non syndromique dont le diagnostic est fait tardivement en raison descirconstances de vie défavorables des patients. La neurohypophyse est abordée par l’étude de troisfamilles avec diabète insipide central autosomique dominant associé à un retard de croissance. Lapathophysiologie de celui-ci est discutée à la lumière de données de physiologie murine sur l’anorexiepar déshydratation. Ensuite, le syndrome triple A, pléiotrope car lié à un déséquilibre Redox, est étudiésous l’angle de son atteinte rétinienne qui ouvre une fenêtre sur le caractère neurodégénératif de lamaladie. Finalement, le suivi à long terme d’une cohorte de patients avec hypothyroïdie congénitaleillustre les causes et conséquences des anomalies développementales ou fonctionnelles de la thyroïde.Le fil d’Ariane entre les différentes composantes de ce travail est d’illustrer l’importance:- de l’interprétation des observations cliniques à la lumière des connaissances de la physiologie humaineet animale.- d’une description phénotypique minutieuse pour la prise en charge optimale des patients et pour larecherche clinique., Doctorat en Sciences médicales (Médecine), info:eu-repo/semantics/nonPublished

Published
2021

116. SOX2 regulates the hypothalamic-pituitary axis at multiple levels

Author

Jayakody, Sujatha A., Andoniadou, Cynthia L., Gaston-Massuet, Carles, Signore, Massimo, Cariboni, Anna, Bouloux, Pierre M., Tissier, Paul Le, Pevny, Larysa H., Dattani, Mehul T., and Martinez-Barbera, Juan P.

Subjects
Hypogonadism -- Genetic aspects -- Risk factors -- Research, Transcription factors -- Physiological aspects -- Research, Hypothalamic-pituitary-adrenal axis -- Physiological aspects -- Research, Health care industry
Abstract

Sex-determining region Y (SRY) box 2 (SOX2) haploinsufficiency causes a form of hypopituitarism in humans that is characterized by gonadotrophin deficiency known as hypogonadotrophic hypogonadism. Here, we conditionally deleted Sox2 in mice to investigate the pathogenesis of hypogonadotrophic hypogonadism. First, we found that absence of SOX2 in the developing Rathke pouch of conditional embryos led to severe anterior lobe hypoplasia with drastically reduced expression of the pituitary-specific transcription factor POU class 1 homeobox 1 (POU1F1) as well as severe disruption of somatotroph and thyrotroph differentiation.In contrast, corticotrophs, rostral-tip POU1F1-independent thyrotrophs, and, interestingly, lactotrophs and gonadotrophs were less affected. Second, we identified a requirement for SOX2 in normal proliferation of periluminal progenitors; in its absence, insufficient precursors were available to produce all cell lineages of the anterior pituitary. Differentiated cells derived from precursors exiting cell cycle at early stages, including corticotrophs, rostral-tip thyrotrophs, and gonadotrophs, were generated, while hormone-producing cells originating from late-born precursors, such as somatotrophs and POU1F1-dependent thyrotrophs, were severely reduced. Finally, we found that 2 previously characterized patients with SOX2 haploinsufficiency and associated hypogonadotrophic hypogonadism had a measurable response to gonadotropin-releasing hormone (GnRH) stimulation, suggesting that it is not the absence of gonadotroph differentiation, but rather the deficient hypothalamic stimulation of gonadotrophs, that underlies typical hypogonadotrophic hypogonadism., Introduction Heterozygous mutations in sex-determining region Y (SRY) box 2 (SOX2) have been associated with major eye abnormalities (i.e., anophthalmia, microphthalmia, and coloboma), hypopituitarism characterized by pituitary hypoplasia on imaging, [...]

Published
2012
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119. Mutations in the selenocysteine insertion sequence--binding protein 2 gene lead to a multisystem selenoprotein deficiency disorder in humans

Author

Schoenmakers, Erik, Agostini, Maura, Mitchell, Catherine, Schoenmakers, Nadia, Papp, Laura, Rajanayagam, Odelia, Padidela, Raja, Ceron-Gutierrez, Lourdes, Doffinger, Rainer, Prevosto, Claudia, Luan, Jian'an, Montano, Sergio, Lu, Jun, Castanet, Mireille, Clemons, Nick, Groeneveld, Matthijs, Castets, Perrine, Karbaschi, Mahsa, Aitken, Sri, Dixon, Adrian, Williams, Jane, Campi, Irene, Blount, Margaret, Burton, Hannah, Muntoni, Francesco, O'Donovan, Dominic, Dean, Andrew, Warren, Anne, Brierley, Charlotte, Baguley, David, Guicheney, Pascale, Fitzgerald, Rebecca, Coles, Alasdair, Gaston, Hill, Todd, Pamela, Holmgren, Arne, Khanna, Kum Kum, Cooke, Marcus, Semple, Robert, Halsall, David, Wareham, Nicholas, Schwabe, John, Grasso, Lucia, Beck-Peccoz, Paolo, Ogunko, Arthur, Dattani, Mehul, Gurnell, Mark, and Chatterjee, Krishna

Subjects
Nucleotide sequencing -- Methods, Gene mutations -- Identification and classification -- Methods, Binding proteins -- Properties -- Methods, Selenocysteine -- Properties -- Methods, DNA sequencing -- Methods, Health care industry
Abstract

Selenium, a trace element that is fundamental to human health, is incorporated into some proteins as selenocysteine (Sec), generating a family of selenoproteins. Sec incorporation is mediated by a multiprotein complex that includes Sec insertion sequence--binding protein 2 (SECISBP2; also known as SBP2). Here, we describe subjects with compound heterozygous defects in the SECISBP2 gene. These individuals have reduced synthesis of most of the 25 known human selenoproteins, resulting in a complex phenotype. Azoospermia, with failure of the latter stages of spermatogenesis, was associated with a lack of testis-enriched selenoproteins. An axial muscular dystrophy was also present, with features similar to myopathies caused by mutations in selenoprotein N (SEPN1). Cutaneous deficiencies of antioxidant selenoenzymes, increased cellular ROS, and susceptibility to ultraviolet radiation--induced oxidative damage may mediate the observed photosensitivity. Reduced levels of selenoproteins in peripheral blood cells were associated with impaired T lymphocyte proliferation, abnormal mononuclear cell cytokine secretion, and telomere shortening. Paradoxically, raised ROS in affected subjects was associated with enhanced systemic and cellular insulin sensitivity, similar to findings in mice lacking the antioxidant selenoenzyme glutathione peroxidase 1 (GPx1). Thus, mutation of SECISBP2 is associated with a multisystem disorder with defective biosynthesis of many selenoproteins, highlighting their role in diverse biological processes., Introduction Selenium is an essential trace element that is fundamental to human health. Its biological role is mediated principally by cotranslational incorporation of selenocysteine (Sec; the 21st amino acid) into [...]

Published
2010
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126. Genetic Analysis of Pediatric Primary Adrenal Insufficiency of Unknown Etiology: 25 Years’ Experience in the UK

Author

Buonocore, Federica, primary, Maharaj, Avinaash, additional, Qamar, Younus, additional, Koehler, Katrin, additional, Suntharalingham, Jenifer P, additional, Chan, Li F, additional, Ferraz-de-Souza, Bruno, additional, Hughes, Claire R, additional, Lin, Lin, additional, Prasad, Rathi, additional, Allgrove, Jeremy, additional, Andrews, Edward T, additional, Buchanan, Charles R, additional, Cheetham, Tim D, additional, Crowne, Elizabeth C, additional, Davies, Justin H, additional, Gregory, John W, additional, Hindmarsh, Peter C, additional, Hulse, Tony, additional, Krone, Nils P, additional, Shah, Pratik, additional, Shaikh, M Guftar, additional, Roberts, Catherine, additional, Clayton, Peter E, additional, Dattani, Mehul T, additional, Thomas, N Simon, additional, Huebner, Angela, additional, Clark, Adrian J, additional, Metherell, Louise A, additional, and Achermann, John C, additional

Published
2021
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127. Perception of Treatment Burden With Once Weekly Somatrogon vs Once Daily Genotropin in Pediatric Patients With Growth Hormone Deficiency (GHD): Results From a Randomized Phase 3 Study

Author

Maniatis, Aristides K, primary, Carakushansky, Mauri, additional, Galcheva, Sonya, additional, Prakasam, Gnanagurudasan, additional, Fox, Larry A, additional, Dankovcikova, Adriana, additional, Loftus, Jane, additional, Palladino, Andrew A, additional, Resa, Maria de los Angeles, additional, Taylor, Carrie Turich, additional, Dattani, Mehul T, additional, and Lebl, Jan, additional

Published
2021
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128. Health Status of Children and Young Persons With Congenital Adrenal Hyperplasia in the United Kingdom: Results of a Multi-Center Cohort Study

Author

Bacila, Irina-Alexandra, primary, Lawrence, Neil, additional, Mahdi, Sundus, additional, Alvi, Sabah, additional, Cheetham, Timothy, additional, Crowne, Elizabeth, additional, Das, Urmi, additional, Dattani, Mehul, additional, Davies, Justin H, additional, Gevers, Evelien F, additional, Krone, Ruth, additional, Kyriakou, Andreas, additional, Patel, Leena, additional, Randell, Tabitha, additional, Ryan, Fiona, additional, Ahmed, S Faisal, additional, and Krone, Nils Peter, additional

Published
2021
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129. Quality of Life in Children and Young People With Congenital Adrenal Hyperplasia in the United Kingdom - Nationwide Multicentre Assessment

Author

Lawrence, Neil Richard, primary, Bacila, Irina-Alexandra, additional, Mahdi, Sundus, additional, Albi, Sabah, additional, Cheetham, Tim D, additional, Crowne, Elizabeth C, additional, Das, Urmi, additional, Dawson, Jeremy, additional, Dattani, Mehul Tulsidas, additional, Davies, Justin, additional, Gevers, Eveline, additional, Krone, Ruth, additional, Kyriakou, Andreas, additional, Patel, Leena, additional, Randell, Tabitha, additional, Ryan, Fiona, additional, Keevil, Brian George, additional, Ahmed, Syed Faisal, additional, and Krone, Nils Peter, additional

Published
2021
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132. Pituitary

Author

Gevers, Evelien F., primary, Gaston-Massuet, Carles, additional, and Dattani, Mehul T., additional

Published
2013
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134. Visual impairment, severe visual impairment, and blindness in children in Britain (BCVIS2): a national observational study

Author

Teoh, Lucinda J, primary, Solebo, Ameenat Lola, additional, Rahi, Jugnoo S, additional, Abbott, Joe, additional, Abdullah, Wajda, additional, Adams, Gill, additional, Allen, Louise, additional, Anderson, Christopher, additional, Ansell, Karen, additional, Anwar, Samira, additional, Ash, Isabel, additional, Ashworth, Jane, additional, Aslam, Sher, additional, Astagi, Majunath, additional, Ball, Colin, additional, Balu, Rajesh, additional, Barrett, Victoria, additional, Bassi, Zahabiyah, additional, Bates, Adam, additional, Batra, Dushyant, additional, Bell, Sarah, additional, Belmour, Linda, additional, Benzimra, James, additional, Birrell, Ginny, additional, Biswas, Susmito, additional, Blaikie, Andrew, additional, Blundell, Michael, additional, Bolton, Kate, additional, Bos, Ewoud, additional, Bowen, Pamela, additional, Bowman, Richard, additional, Boyle, Natalie, additional, Bradbury, John, additional, Bredow, Maria, additional, Bregu, Marsel, additional, Brennan, Nicholas, additional, Brennan, Rosie, additional, Brittain, Paul, additional, Buchanan, Charles, additional, Bunce, Catey, additional, Bunting, Howard, additional, Burgess, Priscilla, additional, Burke, Cathie, additional, Bush, Alexandra Kate, additional, Butcher, Jeremy, additional, Butler, Lucilla, additional, Cane, Clare, additional, Chadwick, Cathryn, additional, Charlton, Ruth, additional, Childs, Anne-Marie, additional, Choi, Jessy, additional, Choleva, Vivi, additional, Churchill, Amanda, additional, Clarke, Michael, additional, Clayton, Peter, additional, Clifford, Luke, additional, Connor, Alan, additional, Cox, Rachel, additional, Cresswell, Lyn, additional, Dahlmann-Noor, Annegret, additional, D'Amore, Angela, additional, Dattani, Mehul, additional, Dean, Fiona, additional, Devlin, Anita, additional, Dhir, Luna, additional, Doherty, Cora, additional, Dorey, Suzanne, additional, Drimmie, Fiona, additional, Duke, Tina, additional, Dutton, Gordon, additional, Eaton, Fiona, additional, Eaton, Megan, additional, Eckersley, Danielle, additional, Edelsten, Clive, additional, Elderkin, Rachel, additional, Ennis, Julia, additional, Escardo-Paton, Julia, additional, Estephen, Ziad, additional, Etuwewe, Onajite, additional, Evans, Anthony, additional, Ezekwe, Adjoa, additional, Fairfield, Jenny, additional, Falzon, Kevin, additional, Ferguson, Allison, additional, Fleck, Brian, additional, Gainsborough, Mary, additional, Galloway, Alexandra, additional, Gerson-Sofer, Naomi, additional, Gibbon, Caspar, additional, Gibson, Patricia, additional, Goss, Kevin, additional, Graham-Evans, Katherine, additional, Gray, Judith, additional, Gregory, Anna, additional, Gulati, Arun, additional, Gurtin-Zorkun, Deniz, additional, Guy, Emma, additional, Haddad, Diab, additional, Haggerty, Helen, additional, Haigh, Paul, additional, Hale, Julia, additional, Hamada, Samer, additional, Hancox, Joanne, additional, Hanna, Kerry, additional, Harris, Sian, additional, Harrison, Christine, additional, Harvey, Phillip, additional, Headland, Sophie, additional, Heath, Dominic, additional, Heaton, Paul, additional, Henderson, Robert, additional, Hingorani, Melanie, additional, Hirst, Zoe, additional, Hogg, Claire, additional, Hogler, Wolfgang, additional, Holden, Roger, additional, Hoole, Janice, additional, Horridge, Karen, additional, Howard, Delyth, additional, Howells, Rachel, additional, Irvine, Vanessa, additional, Irving, Clare, additional, Johnson, Nicola, additional, Johnston, Ian, additional, Jollands, Alice, additional, Jones, David, additional, Joseph, Annie, additional, Joshi, Archana, additional, Kandaswamy, Pugazhvendan, additional, Kattakayam, Charles, additional, Keenan, Joseph, additional, Kelly, Anne, additional, Kersey, James, additional, Khan, Awais, additional, Khaw, Peng, additional, Kipioti, Tina, additional, Kiran, Sadia, additional, Kneen, Lesley, additional, Kotagiri, Ajay, additional, Kulshrestha, Richa, additional, Lambley, Rosemary, additional, Lavy, Tim, additional, Lawson, Joanna, additional, Lee, Vicki, additional, Leitch, Jane, additional, Lennon, Julie, additional, Lipshen, Gabi, additional, Lloyd, Chris, additional, Loftus, John, additional, Lomas, Tom, additional, Long, Vernon, additional, Mackinnon, Jane, additional, MacRae, Mary, additional, Mahmood, Usman, additional, Maino, Anna, additional, Maling, Sarah, additional, Mansfield, David, additional, Marder, Elizabeth, additional, Markham, Richard, additional, Marr, Jane, additional, Marsh, Catherine, additional, Maw, Anna, additional, McCartney, Eleanor, additional, McCullagh, Helen, additional, McDonald, Anna, additional, McPhee, Derek, additional, Miall, Lawrence, additional, Mistry, Shila, additional, Moate, Benjamin, additional, Mohan, Meyyammai, additional, Moore, Helen, additional, Moore, Will, additional, Morgan, Nicola, additional, Morton, Claire, additional, Mulvihill, Alan, additional, Nair, Ranjit, additional, Newman, Bill, additional, Nitsch, Christiane, additional, O'Connell, Katy, additional, Oluonye, Ngozi, additional, Pai, Vittaldas, additional, Palmer, Helen, additional, Papadopoulos, Maria, additional, Parkinson, Shelagh, additional, Parmar, Bina, additional, Parulekar, Manoj, additional, Parvathareddy, Madhavi, additional, Patel, Dipesh, additional, Patel, Himanshu, additional, Patel, Kamal, additional, Pennefather, Philippa, additional, Petrone, Flaudia, additional, Pierrepoint, Marcus, additional, Pilling, Rachel, additional, Pollard, Sally, additional, Puertas, Renata, additional, Pysden, Karen, additional, Quinn, Anthony, additional, Quinn, Philip, additional, Rachdan, Diyaa, additional, Raina, Jyoti, additional, Rajak, Saul, additional, Ramm, Laura, additional, Rands, Catherine, additional, Rao, Tekki, additional, Ray, Mary, additional, Reddy, Ashwin, additional, Reilly, Sheilla, additional, Rekha, Maralla, additional, Richardson, Greg, additional, Riordan, Andrew, additional, Roberts, Nerys, additional, Robertson, Helen, additional, Robinson, Gillian, additional, Rogers, Neil, additional, Saeed, Shakir, additional, Salmon, Caroline, additional, Sargent, Jenefer, additional, Sarvananthan, Nagini, additional, Schmoll, Conrad, additional, Self, James, additional, Sellar, P, additional, Service, Elaine, additional, Shafiq, Ayad, additional, Shah, Shilpa, additional, Sharma, Vinod, additional, Sharp, Jemima, additional, Shaw, Julia, additional, Shenoy, Manjula, additional, Sleep, Tamsin, additional, Smit, Elisa, additional, Smyth, Katherine, additional, Speedwell, Lynne, additional, Spowart, Katherine, additional, Standring, P, additional, Stanga, Paulo, additional, Stanley, Alison, additional, Stanton, Alan, additional, Steel, David, additional, Stephen, John, additional, Stewart, Catherine, additional, Street, Jessica, additional, Stucke, Sally, additional, Sutherland, Shona, additional, Tambe, Katya, additional, Tandon, Anamika, additional, Tappin, Alison, additional, Taylor, Kate, additional, Taylor, Robert, additional, Teasdale, Katherine, additional, Theodorou, Maria, additional, Thomas, Gareth, additional, Thomas, Megan, additional, Thomas, Paula, additional, Thompson, Dorothy, additional, Thomson, Stephen, additional, Thopte, Indrajit, additional, Tiffin, Peter, additional, Tillett, Angela, additional, Traunecker, Heidi, additional, Tsimpida, Maria, additional, Van Someren, Vivienne, additional, Venkatesh, Udupa, additional, Vermaak, Zoe, additional, Vincent, Michael, additional, Walker, David, additional, Walker, Simon, additional, Walsh, Deidre, additional, Walters, Bronwyn, additional, Ward Platt, Martin, additional, Watson, Louise, additional, Watts, Patrick, additional, West, Siobhan, additional, West, Stephanie, additional, White, Cathy, additional, White, Joy, additional, Whitlingum, Gabriel, additional, Williams, Cathy, additional, Wilne, Sophie, additional, Wilson, Janice, additional, Wong, Chien, additional, Woodbridge, Tamsin, additional, Wright, Paul, additional, Wyles, Martha, additional, and Wylie, Philip, additional

Published
2021
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136. Bayesian Inference Associates Rare KDR Variants With Specific Phenotypes in Pulmonary Arterial Hypertension

Author

Swietlik, Emilia M., primary, Greene, Daniel, additional, Zhu, Na, additional, Megy, Karyn, additional, Cogliano, Marcella, additional, Rajaram, Smitha, additional, Pandya, Divya, additional, Tilly, Tobias, additional, Lutz, Katie A., additional, Welch, Carrie C.L., additional, Pauciulo, Michael W., additional, Southgate, Laura, additional, Martin, Jennifer M., additional, Treacy, Carmen M., additional, Penkett, Christopher J., additional, Stephens, Jonathan C., additional, Bogaard, Harm J., additional, Church, Colin, additional, Coghlan, Gerry, additional, Coleman, Anna W., additional, Condliffe, Robin, additional, Eichstaedt, Christina A., additional, Eyries, Mélanie, additional, Gall, Henning, additional, Ghio, Stefano, additional, Girerd, Barbara, additional, Grünig, Ekkehard, additional, Holden, Simon, additional, Howard, Luke, additional, Humbert, Marc, additional, Kiely, David G., additional, Kovacs, Gabor, additional, Lordan, Jim, additional, Machado, Rajiv D., additional, MacKenzie Ross, Robert V., additional, McCabe, Colm, additional, Moledina, Shahin, additional, Montani, David, additional, Olschewski, Horst, additional, Pepke-Zaba, Joanna, additional, Price, Laura, additional, Rhodes, Christopher J., additional, Seeger, Werner, additional, Soubrier, Florent, additional, Suntharalingam, Jay, additional, Toshner, Mark R., additional, Vonk Noordegraaf, Anton, additional, Wharton, John, additional, Wild, James M., additional, Wort, Stephen John, additional, Lawrie, Allan, additional, Wilkins, Martin R., additional, Trembath, Richard C., additional, Shen, Yufeng, additional, Chung, Wendy K., additional, Swift, Andrew J., additional, Nichols, William C., additional, Morrell, Nicholas W., additional, Gräf, Stefan, additional, Abbs, Stephen, additional, Abulhoul, Lara, additional, Adlard, Julian, additional, Ahmed, Munaza, additional, Aitman, Timothy J., additional, Alachkar, Hana, additional, Allsup, David J., additional, Ancliff, Philip, additional, Antrobus, Richard, additional, Armstrong, Ruth, additional, Arno, Gavin, additional, Ashford, Sofie, additional, Astle, William J., additional, Attwood, Anthony, additional, Aurora, Paul, additional, Babbs, Christian, additional, Bacchelli, Chiara, additional, Bakchoul, Tamam, additional, Banka, Siddharth, additional, Bariana, Tadbir, additional, Barwell, Julian, additional, Batista, Joana, additional, Baxendale, Helen E., additional, Beales, Phil L., additional, Bennett, David L., additional, Bierzynska, Agnieszka, additional, Biss, Tina, additional, Bitner-Glindzicz, Maria A.K., additional, Black, Graeme C., additional, Bleda, Marta, additional, Blesneac, Iulia, additional, Bockenhauer, Detlef, additional, Boyce, Sara, additional, Bradley, John R., additional, Breen, Gerome, additional, Brennan, Paul, additional, Brewer, Carole, additional, Brown, Matthew, additional, Browning, Andrew C., additional, Browning, Michael J., additional, Buchan, Rachel J., additional, Buckland, Matthew S., additional, Bueser, Teofila, additional, Diz, Carmen Bugarin, additional, Burn, John, additional, Burns, Siobhan O., additional, Burren, Oliver S., additional, Burrows, Nigel, additional, Campbell, Carolyn, additional, Carr-White, Gerald, additional, Carss, Keren, additional, Casey, Ruth, additional, Caulfield, Mark J., additional, Chambers, Jenny, additional, Chambers, John, additional, Chan, Melanie M.Y., additional, Cheng, Floria, additional, Chinnery, Patrick F., additional, Chitre, Manali, additional, Christian, Martin T., additional, Clayton-Smith, Jill, additional, Cleary, Maureen, additional, Brod, Naomi Clements, additional, Colby, Elizabeth, additional, Cole, Trevor R.P., additional, Collins, Janine, additional, Collins, Peter W., additional, Compton, Cecilia J., additional, Cook, H. Terence, additional, Cook, Stuart, additional, Cooper, Nichola, additional, Corris, Paul A., additional, Curry, Nicola S., additional, Daniels, Matthew J., additional, Dattani, Mehul, additional, Daugherty, Louise C., additional, Davis, John, additional, De Soyza, Anthony, additional, Deevi, Sri V.V., additional, Dent, Timothy, additional, Deshpande, Charu, additional, Dewhurst, Eleanor F., additional, Dixon, Peter H., additional, Douzgou, Sofia, additional, Downes, Kate, additional, Drazyk, Anna M., additional, Drewe, Elizabeth, additional, Duarte, Daniel, additional, Dutt, Tina, additional, Edgar, J. David M., additional, Edwards, Karen, additional, Egner, William, additional, Ekani, Melanie N., additional, Elliott, Perry, additional, Erber, Wendy N., additional, Erwood, Marie, additional, Estiu, Maria C., additional, Evans, Dafydd Gareth, additional, Evans, Gillian, additional, Everington, Tamara, additional, Fassihi, Hiva, additional, Favier, Remi, additional, Fletcher, Debra, additional, Flinter, Frances A., additional, Floto, R. Andres, additional, Fowler, Tom, additional, Fox, James, additional, Frary, Amy J., additional, French, Courtney E., additional, Freson, Kathleen, additional, Frontini, Mattia, additional, Furnell, Abigail, additional, Gale, Daniel P., additional, Ganesan, Vijeya, additional, Gattens, Michael, additional, Ghofrani, Hossein-Ardeschir, additional, Gibbs, J. Simon R., additional, Gibson, Kate, additional, Gilmour, Kimberly C., additional, Gleadall, Nicholas S., additional, Goddard, Sarah, additional, Gomez, Keith, additional, Gordins, Pavels, additional, Gosal, David, additional, Graham, Jodie, additional, Grassi, Luigi, additional, Greenhalgh, Lynn, additional, Greinacher, Andreas, additional, Gresele, Paolo, additional, Griffiths, Philip, additional, Grigoriadou, Sofia, additional, Grozeva, Detelina, additional, Gurnell, Mark, additional, Hackett, Scott, additional, Hadinnapola, Charaka, additional, Hague, Rosie, additional, Hague, William M., additional, Haimel, Matthias, additional, Hall, Matthew, additional, Hanson, Helen L., additional, Haque, Eshika, additional, Harkness, Kirsty, additional, Harper, Andrew R., additional, Harris, Claire L., additional, Hart, Daniel, additional, Hassan, Ahamad, additional, Hayman, Grant, additional, Henderson, Alex, additional, Herwadkar, Archana, additional, Hoffman, Jonathan, additional, Horvath, Rita, additional, Houlden, Henry, additional, Houweling, Arjan C., additional, Hu, Fengyuan, additional, Hudson, Gavin, additional, Huissoon, Aarnoud P., additional, Hurles, Matthew, additional, Irving, Melita, additional, Izatt, Louise, additional, James, Roger, additional, Johnson, Sally A., additional, Jolles, Stephen, additional, Jolley, Jennifer, additional, Josifova, Dragana, additional, Jurkute, Neringa, additional, Kasanicki, Mary A., additional, Kazkaz, Hanadi, additional, Kazmi, Rashid, additional, Kelleher, Peter, additional, Kelly, Anne M, additional, Kelsall, Wilf, additional, Kempster, Carly, additional, Kingston, Nathalie, additional, Koelling, Nils, additional, Kostadima, Myrto, additional, Koziell, Ania, additional, Kreuzhuber, Roman, additional, Kuijpers, Taco W., additional, Kumar, Ajith, additional, Kumararatne, Dinakantha, additional, Kurian, Manju A., additional, Laffan, Michael A., additional, Lalloo, Fiona, additional, Lambert, Michele, additional, Allen, Hana Lango, additional, Layton, D. Mark, additional, Lentaigne, Claire, additional, Lester, Tracy, additional, Levine, Adam P., additional, Linger, Rachel, additional, Longhurst, Hilary, additional, Lorenzo, Lorena E., additional, Louka, Eleni, additional, Lyons, Paul A., additional, Madan, Bella, additional, Maher, Eamonn R., additional, Maimaris, Jesmeen, additional, Malka, Samantha, additional, Mangles, Sarah, additional, Mapeta, Rutendo, additional, Marchbank, Kevin J., additional, Marks, Stephen, additional, Markus, Hugh S., additional, Marschall, Hanns-Ulrich, additional, Marshall, Andrew, additional, Mathias, Mary, additional, Matthews, Emma, additional, Maxwell, Heather, additional, McAlinden, Paul, additional, McCarthy, Mark I., additional, McKinney, Harriet, additional, Meacham, Stuart, additional, Mead, Adam J., additional, Mehta, Sarju G., additional, Michaelides, Michel, additional, Millar, Carolyn, additional, Mohammed, Shehla N., additional, Moore, Anthony T., additional, Mozere, Monika, additional, Muir, Keith W., additional, Mumford, Andrew D., additional, Nemeth, Andrea H., additional, Newman, William G., additional, Newnham, Michael, additional, Noorani, Sadia, additional, Nurden, Paquita, additional, O’Sullivan, Jennifer, additional, Obaji, Samya, additional, Odhams, Chris, additional, Okoli, Steven, additional, Olschewski, Andrea, additional, Ong, Kai Ren, additional, Oram, S. Helen, additional, Ormondroyd, Elizabeth, additional, Ouwehand, Willem H., additional, Palles, Claire, additional, Papadia, Sofia, additional, Park, Soo-Mi, additional, Parry, David, additional, Patel, Smita, additional, Paterson, Joan, additional, Peacock, Andrew, additional, Pearce, Simon H., additional, Peerlinck, Kathelijne, additional, Petersen, Romina, additional, Pilkington, Clarissa, additional, Poole, Kenneth E.S., additional, Psaila, Bethan, additional, Pyle, Angela, additional, Quinton, Richard, additional, Rahman, Shamima, additional, Rao, Anupama, additional, Raymond, F. Lucy, additional, Rayner-Matthews, Paula J., additional, Rendon, Augusto, additional, Renton, Tara, additional, Rice, Andrew S.C., additional, Richter, Alex, additional, Robert, Leema, additional, Roberts, Irene, additional, Rose, Sarah J., additional, Ross-Russell, Robert, additional, Roughley, Catherine, additional, Roy, Noemi B.A., additional, Ruddy, Deborah M., additional, Sadeghi-Alavijeh, Omid, additional, Saleem, Moin A., additional, Samani, Nilesh, additional, Samarghitean, Crina, additional, Sanchis-Juan, Alba, additional, Sargur, Ravishankar B., additional, Sarkany, Robert N., additional, Satchell, Simon, additional, Savic, Sinisa, additional, Sayer, Genevieve, additional, Sayer, John A., additional, Scelsi, Laura, additional, Schaefer, Andrew M., additional, Schulman, Sol, additional, Scott, Richard, additional, Scully, Marie, additional, Searle, Claire, additional, Sen, Arjune, additional, Sewell, W.A. Carrock, additional, Seyres, Denis, additional, Shah, Neil, additional, Shamardina, Olga, additional, Shapiro, Susan E., additional, Shaw, Adam C., additional, Sibson, Keith, additional, Side, Lucy, additional, Simeoni, Ilenia, additional, Simpson, Michael A., additional, Sims, Matthew C., additional, Sivapalaratnam, Suthesh, additional, Smedley, Damian, additional, Smith, Katherine R., additional, Smith, Kenneth G.C., additional, Snape, Katie, additional, Soranzo, Nicole, additional, Spasic-Boskovic, Olivera, additional, Staines, Simon, additional, Staples, Emily, additional, Stark, Hannah, additional, Stirrups, Kathleen E., additional, Stuckey, Alex, additional, Syrris, Petros, additional, Tait, R. Campbell, additional, Talks, Kate, additional, Tan, Rhea Y.Y., additional, Taylor, Jenny C., additional, Taylor, John M., additional, Thaventhiran, James E., additional, Themistocleous, Andreas C., additional, Thomas, David, additional, Thomas, Ellen, additional, Thomas, Moira J., additional, Thomas, Patrick, additional, Thomson, Kate, additional, Thrasher, Adrian J., additional, Thys, Chantal, additional, Tischkowitz, Marc, additional, Titterton, Catherine, additional, Toh, Cheng-Hock, additional, Tomlinson, Ian P., additional, Traylor, Matthew, additional, Treadaway, Paul, additional, Tuna, Salih, additional, Turro, Ernest, additional, Twiss, Philip, additional, Vale, Tom, additional, Van Geet, Chris, additional, van Zuydam, Natalie, additional, Vandersteen, Anthony M, additional, Vazquez-Lopez, Marta, additional, von Ziegenweidt, Julie, additional, Wagner, Annette, additional, Waisfisz, Quinten, additional, Walker, Neil, additional, Walker, Suellen M., additional, Ware, James S., additional, Watkins, Hugh, additional, Watt, Christopher, additional, Webster, Andrew R., additional, Wedderburn, Lucy, additional, Wei, Wei, additional, Welch, Steven B., additional, Wessels, Julie, additional, Westbury, Sarah K., additional, Westwood, John-Paul, additional, Whitehorn, Deborah, additional, Whitworth, James, additional, Wilkie, Andrew O.M., additional, Williamson, Catherine, additional, Wilson, Brian T., additional, Wong, Edwin K.S., additional, Wood, Nicholas, additional, Wood, Yvette, additional, Woods, Christopher Geoffrey, additional, Woodward, Emma R., additional, Worth, Austen, additional, Wright, Michael, additional, Yates, Katherine, additional, Yong, Patrick F.K., additional, Young, Timothy, additional, Yu, Ping, additional, Yu-Wai-Man, Patrick, additional, Zlamalova, Eliska, additional, Hirsch, Russel, additional, White, R. James, additional, Simon, Marc, additional, Badesch, David, additional, Rosenzweig, Erika, additional, Burger, Charles, additional, Chakinala, Murali, additional, Thenappan, Thenappan, additional, Elliott, Greg, additional, Simms, Robert, additional, Farber, Harrison, additional, Frantz, Robert, additional, Elwing, Jean, additional, Hill, Nicholas, additional, Ivy, Dunbar, additional, Klinger, James, additional, Nathan, Steven, additional, Oudiz, Ronald, additional, Robbins, Ivan, additional, Schilz, Robert, additional, Fortin, Terry, additional, Wilt, Jeffrey, additional, Yung, Delphine, additional, Austin, Eric, additional, Ahmad, Ferhaan, additional, Bhatt, Nitin, additional, Lahm, Tim, additional, Frost, Adaani, additional, Safdar, Zeenat, additional, Rehman, Zia, additional, Walter, Robert, additional, Torres, Fernando, additional, Bakshi, Sahil, additional, Archer, Stephen, additional, Argula, Rahul, additional, Barnett, Christopher, additional, Benza, Raymond, additional, Desai, Ankit, additional, and Maddipati, Veeranna, additional

Published
2021
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138. Over- and underdosage of SOX3 is associated with infundibular hypoplasia and hypopituitarism

Author

Woods, Kathryn S., Cundall, Maria, Crace, Jim, Rizotti, Karine, Mehta, Ameeta, Palmer, Rodger, Wong, Jacqueline, Chong, W.K., Al-Zyoud, Mahmoud, El-Ali, Maryam, Otonkoski, Timo, Martinez-Barbera, Juan-Pedro, Thomas, Paul Q., Robinson, Iain C., Lovell-Badge, Robin, Woodward, Karen J., and Dattani, Mehul T.

Subjects
Human genetics -- Research, Hypopituitarism -- Research, Hypopituitarism -- Genetic aspects, Pituitary gland -- Research, Pituitary gland -- Genetic aspects, Biological sciences
Published
2005

140. Pituitary

Author

Gevers, Evelien F., primary, Gaston-Massuet, Carles, additional, and Dattani, Mehul T., additional

Published
2012
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143. ARNT2 mutation causes hypopituitarism, post-natal microcephaly, visual and renal anomalies

Author

Webb, Emma A., AlMutair, Angham, Kelberman, Daniel, Bacchelli, Chiara, Chanudet, Estelle, Lescai, Francesco, Andoniadou, Cynthia L., Banyan, Abdul, Alsawaid, Al, Alrifai, Muhammad T., Alahmesh, Mohammed A., Balwi, M., Mousavy-Gharavy, Seyedeh N., Lukovic, Biljana, Burke, Derek, McCabe, Mark J., Kasia, Tessa, Kleta, Robert, Stupka, Elia, Beales, Philip L., Thompson, Dorothy A., Chong, W. Kling, Alkuraya, Fowzan S., Martinez-Barbera, Juan-Pedro, Sowden, Jane C., and Dattani, Mehul T.

Published
2013
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