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4. Vosoritide Therapy in Children with Achondroplasia: Early Experience and Practical Considerations for Clinical Practice

Author

Semler, Oliver, Cormier-Daire, Valérie, Lausch, Ekkehart, Bober, Michael B., Carroll, Ricki, Sousa, Sérgio B., Deyle, David, Faden, Maha, Hartmann, Gabriele, Huser, Aaron J., Legare, Janet M., Mohnike, Klaus, Rohrer, Tilman R., Rutsch, Frank, Smith, Pamela, Travessa, Andre M., Verardo, Angela, White, Klane K., Wilcox, William R., and Hoover-Fong, Julie

Published
2024
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5. Dominant missense variants in SREBF2 are associated with complex dermatological, neurological, and skeletal abnormalities

Author

Bacino, Carlos A., Balasubramanyam, Ashok, Burrage, Lindsay C., Chao, Hsiao-Tuan, Chinn, Ivan, Clark, Gary D., Craigen, William J., Dai, Hongzheng, Emrick, Lisa T., Ketkar, Shamika, Lalani, Seema R., Lee, Brendan H., Lewis, Richard A., Marom, Ronit, Orengo, James P., Posey, Jennifer E., Potocki, Lorraine, Rosenfeld, Jill A., Seto, Elaine, Scott, Daryl A., Tarakad, Arjun, Tran, Alyssa A., Vogel, Tiphanie P., Hubshman, Monika Weisz, Worley, Kim, Bellen, Hugo J., Wangler, Michael F., Yamamoto, Shinya, Kanca, Oguz, Eng, Christine M., Liu, Pengfei, Ward, Patricia A., Behrens, Edward, Falk, Marni, Hassey, Kelly, Izumi, Kosuke, Kilich, Gonench, Sullivan, Kathleen, Vanderver, Adeline, Zhang, Zhe, Raper, Anna, Jobanputra, Vaidehi, Mikati, Mohamad, McConkie-Rosell, Allyn, Schoch, Kelly, Shashi, Vandana, Spillmann, Rebecca C., Tan, Queenie K.-G., Walley, Nicole M., Beggs, Alan H., Berry, Gerard T., Briere, Lauren C., Cobban, Laurel A., Coggins, Matthew, Fieg, Elizabeth L., High, Frances, Holm, Ingrid A., Korrick, Susan, Loscalzo, Joseph, Maas, Richard L., MacRae, Calum A., Pallais, J. Carl, Rao, Deepak A., Rodan, Lance H., Silverman, Edwin K., Stoler, Joan M., Sweetser, David A., Walker, Melissa, Douglas, Jessica, Glanton, Emily, Kobren, Shilpa N., Kohane, Isaac S., LeBlanc, Kimberly, Maghiro, Audrey Stephannie C., Mahoney, Rachel, McCray, Alexa T., Tan, Amelia L.M., Dasari, Surendra, Lanpher, Brendan C., Lanza, Ian R., Morava, Eva, Oglesbee, Devin, Bademci, Guney, Barbouth, Deborah, Bivona, Stephanie, Borja, Nicholas, Gonzalez, Joanna M., Latchman, Kumarie, Peart, LéShon, Rebelo, Adriana, Smith, Carson A., Tekin, Mustafa, Thorson, Willa, Zuchner, Stephan, Taylor, Herman, Colley, Heather A., Dayal, Jyoti G., Doss, Argenia L., Eckstein, David J., Hutchison, Sarah, Krasnewich, Donna M., Mamounas, Laura A., Manolio, Teri A., Urv, Tiina K., Acosta, Maria T., D'Souza, Precilla, Gropman, Andrea, Macnamara, Ellen F., Maduro, Valerie V., Mulvihill, John J., Novacic, Donna, Pusey Swerdzewski, Barbara N., Toro, Camilo, Wahl, Colleen E., Adams, David R., Afzali, Ben, Burke, Elizabeth A., Davis, Joie, Delgado, Margaret, Fu, Jiayu, Gahl, William A., Hanchard, Neil, Huang, Yan, Introne, Wendy, Jean-Marie, Orpa, Malicdan, May Christine V., Morimoto, Marie, Petcharet, Leoyklang, Rossignol, Francis, Sabaii, Marla, Solomon, Ben, Tifft, Cynthia J., Wolfe, Lynne A., Wood, Heidi, Allworth, Aimee, Bamshad, Michael, Beck, Anita, Bennett, Jimmy, Blue, Elizabeth, Byers, Peter, Chanprasert, Sirisak, Cunningham, Michael, Dipple, Katrina, Doherty, Daniel, Earl, Dawn, Glass, Ian, Hing, Anne, Hisama, Fuki M., Horike-Pyne, Martha, Jarvik, Gail P., Jarvik, Jeffrey, Jayadev, Suman, Kaitryn, Emerald, Lam, Christina, Miller, Danny, Mirzaa, Ghayda, Raskind, Wendy, Rosenthal, Elizabeth, Shelkowitz, Emily, Sheppeard, Sam, Stergachis, Andrew, Sybert, Virginia, Wener, Mark, Wenger, Tara, Alvarez, Raquel L., Bejerano, Gill, Bernstein, Jonathan A., Bonner, Devon, Coakley, Terra R., Fisher, Paul G., Goddard, Page C., Halley, Meghan C., Hom, Jason, Kohler, Jennefer N., Kravets, Elijah, Martin, Beth A., Marwaha, Shruti, Reuter, Chloe M., Ruzhnikov, Maura, Sampson, Jacinda B., Smith, Kevin S., Sutton, Shirley, Tabor, Holly K., Ungar, Rachel A., Wheeler, Matthew T., Ashley, Euan A., Byrd, William E., Crouse, Andrew B., Might, Matthew, Nakano-Okuno, Mariko, Whitlock, Jordan, Butte, Manish J., Corona, Rosario, Dell'Angelica, Esteban C., Dorrani, Naghmeh, Douine, Emilie D., Fogel, Brent L., Huang, Alden, Krakow, Deborah, Loo, Sandra K., Martin, Martin G., Martínez-Agosto, Julian A., McGee, Elisabeth, Nelson, Stanley F., Nieves-Rodriguez, Shirley, Papp, Jeanette C., Parker, Neil H., Renteria, Genecee, Sinsheimer, Janet S., Wan, Jijun, Alvey, Justin, Andrews, Ashley, Bale, Jim, Bohnsack, John, Botto, Lorenzo, Carey, John, Longo, Nicola, Moretti, Paolo, Pace, Laura, Quinlan, Aaron, Velinder, Matt, Viskochil, Dave, Marth, Gabor, Bayrak-Toydemir, Pinar, Mao, Rong, Westerfield, Monte, Bican, Anna, Cassini, Thomas, Corner, Brian, Hamid, Rizwan, Neumann, Serena, Phillips, John A., III, Rives, Lynette, Robertson, Amy K., Ezell, Kimberly, Cogan, Joy D., Hayes, Nichole, Kiley, Dana, Sisco, Kathy, Wambach, Jennifer, Wegner, Daniel, Baldridge, Dustin, Cole, F. Sessions, Pak, Stephen, Schedl, Timothy, Shin, Jimann, Solnica-Krezel, Lilianna, Moulton, Matthew J., Atala, Kristhen, Zheng, Yiming, Dutta, Debdeep, Grange, Dorothy K., Lin, Wen-Wen, Wegner, Daniel J., Wambach, Jennifer A., Duker, Angela L., Bober, Michael B., Kratz, Lisa, Wise, Carol A., Oxendine, Ila, Khanshour, Anas, and Rios, Jonathan

Published
2024
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8. Infigratinib in children with achondroplasia: the PROPEL and PROPEL 2 studies

Author

Savarirayan, Ravi, De Bergua, Josep Maria, Arundel, Paul, McDevitt, Helen, Cormier-Daire, Valerie, Saraff, Vrinda, Skae, Mars, Delgado, Borja, Leiva-Gea, Antonio, Santos-Simarro, Fernando, Salles, Jean Pierre, Nicolino, Marc, Rossi, Massimiliano, Kannu, Peter, Bober, Michael B, Phillips, John, Saal, Howard, Harmatz, Paul, Burren, Christine, Gotway, Garrett, Cho, Terry, Muslimova, Elena, Weng, Richard, Rogoff, Daniela, Hoover-Fong, Julie, and Irving, Melita

Subjects
Pediatric, Clinical Research, Clinical Trials and Supportive Activities, 6.1 Pharmaceuticals, Evaluation of treatments and therapeutic interventions, achondroplasia, clinical trial, fibroblast growth factor receptor 3, infigratinib, Clinical Sciences
Abstract

BackgroundAchondroplasia is the most common short-limbed skeletal dysplasia resulting from gain-of-function pathogenic variants in fibroblast growth factor receptor 3 (FGFR3) gene, a negative regulator of endochondral bone formation. Most treatment options are symptomatic, targeting medical complications. Infigratinib is an orally bioavailable, FGFR1-3 selective tyrosine kinase inhibitor being investigated as a direct therapeutic strategy to counteract FGFR3 overactivity in achondroplasia.ObjectivesThe main objective of PROPEL is to collect baseline data of children with achondroplasia being considered for future enrollment in interventional studies sponsored by QED Therapeutics. The objectives of PROPEL 2 are to obtain preliminary evidence of safety and efficacy of oral infigratinib in children with achondroplasia, to identify the infigratinib dose to be explored in future studies, and to characterize the pharmacokinetic (PK) profile of infigratinib and major metabolites.DesignPROPEL (NCT04035811) is a prospective, noninterventional clinical study designed to characterize the natural history and collect baseline data of children with achondroplasia over 6-24 months. PROPEL 2 (NCT04265651), a prospective, phase II, open-label study of infigratinib in children with achondroplasia, consists of a dose-escalation, dose-finding, and dose-expansion phase to confirm the selected dose, and a PK substudy.Methods and analysisChildren aged 3-11 years with achondroplasia who completed ⩾6 months in PROPEL are eligible for PROPEL 2. Primary endpoints include treatment-emergent adverse events and change from baseline in annualized height velocity. Four cohorts at ascending dose levels are planned for dose escalation. The selected dose will be confirmed in the dose-expansion phase.EthicsPROPEL and PROPEL 2 are being conducted in accordance with the International Conference on Harmonization Good Clinical Practice guidelines, principles of the Declaration of Helsinki, and relevant human clinical research and data privacy regulations. Protocols have been approved by local health authorities, ethics committees, and institutions as applicable. Parents/legally authorized representatives are required to provide signed informed consent; signed informed assent by the child is also required, where applicable.DiscussionPROPEL and PROPEL 2 will provide preliminary evidence of the safety and efficacy of infigratinib as precision treatment of children with achondroplasia and will inform the design of future studies of FGFR-targeted agents in achondroplasia.RegistrationClinicalTrials.gov: NCT04035811; NCT04265651.

Published
2022

9. Safe and persistent growth-promoting effects of vosoritide in children with achondroplasia: 2-year results from an open-label, phase 3 extension study

Author

Savarirayan, Ravi, Tofts, Louise, Irving, Melita, Wilcox, William R, Bacino, Carlos A, Hoover-Fong, Julie, Font, Rosendo Ullot, Harmatz, Paul, Rutsch, Frank, Bober, Michael B, Polgreen, Lynda E, Ginebreda, Ignacio, Mohnike, Klaus, Charrow, Joel, Hoernschemeyer, Daniel, Ozono, Keiichi, Alanay, Yasemin, Arundel, Paul, Kotani, Yumiko, Yasui, Natsuo, White, Klane K, Saal, Howard M, Leiva-Gea, Antonio, Luna-González, Felipe, Mochizuki, Hiroshi, Basel, Donald, Porco, Dania M, Jayaram, Kala, Fisheleva, Elena, Huntsman-Labed, Alice, and Day, Jonathan RS

Subjects
Clinical Trials and Supportive Activities, Clinical Research, Pediatric, 6.1 Pharmaceuticals, Evaluation of treatments and therapeutic interventions, Decent Work and Economic Growth, Achondroplasia, Child, Double-Blind Method, Humans, Natriuretic Peptide, C-Type, Treatment Outcome, Genetics, Clinical Sciences, Genetics & Heredity
Abstract

PurposeAchondroplasia is caused by pathogenic variants in the fibroblast growth factor receptor 3 gene that lead to impaired endochondral ossification. Vosoritide, an analog of C-type natriuretic peptide, stimulates endochondral bone growth and is in development for the treatment of achondroplasia. This phase 3 extension study was conducted to document the efficacy and safety of continuous, daily vosoritide treatment in children with achondroplasia, and the two-year results are reported.MethodsAfter completing at least six months of a baseline observational growth study, and 52 weeks in a double-blind, placebo-controlled study, participants were eligible to continue treatment in an open-label extension study, where all participants received vosoritide at a dose of 15.0 μg/kg/day.ResultsIn children randomized to vosoritide, annualized growth velocity increased from 4.26 cm/year at baseline to 5.39 cm/year at 52 weeks and 5.52 cm/year at week 104. In children who crossed over from placebo to vosoritide in the extension study, annualized growth velocity increased from 3.81 cm/year at week 52 to 5.43 cm/year at week 104. No new adverse effects of vosoritide were detected.ConclusionVosoritide treatment has safe and persistent growth-promoting effects in children with achondroplasia treated daily for two years.

Published
2021

10. Vosoritide therapy in children with achondroplasia aged 3−59 months: a multinational, randomised, double-blind, placebo-controlled, phase 2 trial

Author

Savarirayan, Ravi, Wilcox, William R, Harmatz, Paul, Phillips, John, III, Polgreen, Lynda E, Tofts, Louise, Ozono, Keiichi, Arundel, Paul, Irving, Melita, Bacino, Carlos A, Basel, Donald, Bober, Michael B, Charrow, Joel, Mochizuki, Hiroshi, Kotani, Yumiko, Saal, Howard M, Army, Clare, Jeha, George, Qi, Yulan, Han, Lynn, Fisheleva, Elena, Huntsman-Labed, Alice, and Day, Jonathan

Published
2024
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11. Once-weekly TransCon CNP (navepegritide) in children with achondroplasia (ACcomplisH): a phase 2, multicentre, randomised, double-blind, placebo-controlled, dose-escalation trial

Author

Savarirayan, Ravi, Hoernschemeyer, Daniel G., Ljungberg, Merete, Zarate, Yuri A., Bacino, Carlos A., Bober, Michael B., Legare, Janet M., Högler, Wolfgang, Quattrin, Teresa, Abuzzahab, M. Jennifer, Hofman, Paul L., White, Klane K., Ma, Nina S., Schnabel, Dirk, Sousa, Sérgio B., Mao, Meng, Smith, Alden, Chakraborty, Mukta, Giwa, Adebola, Winding, Bent, Volck, Birgitte, Shu, Aimee D., and McDonnell, Ciara

Published
2023
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12. Identification of potential non-invasive biomarkers in diastrophic dysplasia

Author

Paganini, Chiara, Carroll, Ricki S., Gramegna Tota, Chiara, Schelhaas, Andrea J., Leone, Alessandra, Duker, Angela L., O'Connell, David A., Coghlan, Ryan F., Johnstone, Brian, Ferreira, Carlos R., Peressini, Sabrina, Albertini, Riccardo, Forlino, Antonella, Bonafé, Luisa, Campos-Xavier, Ana Belinda, Superti-Furga, Andrea, Zankl, Andreas, Rossi, Antonio, and Bober, Michael B.

Published
2023
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13. Persistent and Stable Growth Promoting Effects of Vosoritide in Children With Achondroplasia for up to 2 Years: Results From the Ongoing Phase 3 Extension Study

Author

Savarirayan, Ravi, Tofts, Louise, Irving, Melita, Wilcox, William, Bacino, Carlos A, Hoover-Fong, Julie, Font, Rosendo Ullot, Harmatz, Paul, Rutsch, Frank, Bober, Michael B, Polgreen, Lynda, Ginebreda, Ignacio, Mohnike, Klaus, Charrow, Joel, Hoernschemeyer, Daniel, Ozono, Keiichi, Alanay, Yasemin, Arundel, Paul, Kagami, Shoji, Yasui, Natsuo, White, Klane, Saal, Howard, Leiva-Gea, Antonio, Luna-González, Felipe, Mochizuki, Hiroshi, Basel, Donald, Porco, Dania, Jayaram, Kala, Fisheleva, Elena, Han, Lynn, and Day, Jonathan

Abstract

Abstract Objectives: Vosoritide is a potent stimulator of endochondral bone growth and is in development for the treatment of achondroplasia, the most common form of disproportionate short stature. We previously reported on a 52-week, phase 3, pivotal study that demonstrated a highly statistically significant improvement in annualized growth velocity (AGV) when vosoritide was compared to placebo in children with achondroplasia aged 5-18 years (Savarirayan et al, Lancet, 2020). This is an analysis of data after an additional 52 weeks of treatment in the ongoing phase 3 extension study. Methods: After completion of the phase 3 placebo-controlled study, 119 children were enrolled into the extension study, where they all receive open label 15 μg/kg/day vosoritide. AGV, height Z-score and body proportion ratio were analyzed to assess efficacy of vosoritide in children who were treated with vosoritide for up to 2 years. Fifty-eight continued treatment with vosoritide and 61 switched from placebo to vosoritide. Two participants on continuous vosoritide treatment discontinued before the Week 52 timepoint. Four participants on continuous vosoritide treatment and 7 participants who switched from placebo to vosoritide missed the Week 52 assessment due to Covid-19. Results: In children randomized to receive daily vosoritide, baseline mean (SD) AGV was 4.26 (1.53) cm/year. After the first 52 weeks of treatment, mean (SD) AGV was 5.67 (0.98) cm/year. Mean (SD) AGV over the second year was 5.57 (1.10) cm/year. Mean (SD) change from baseline in height Z-score improved by +0.24 (0.31) at Week 52 in the pivotal study and +0.45 (0.56) at Week 52 in the extension study. Mean (SD) upper-to-lower body segment ratio improved with a change from baseline of -0.03 (0.11) at Week 52 in the pivotal study and -0.09 (0.11) at Week 52 in the extension study. In children who switched from placebo to vosoritide after 52 weeks, baseline AGV was 4.06 (1.20) cm/year and 3.94 (1.07) cm/year after 52 weeks on placebo. In the second year, after receiving 52 weeks of vosoritide, mean AGV was 5.65 (1.47) cm/year, the mean (SD) change in height Z-score was +0.24 (0.34), and the change in upper-to-lower body segment ratio was -0.03 (0.08). No new adverse events associated with vosoritide treatment were detected with up to 2 years of continuous daily, subcutaneous treatment. Most adverse events were mild and no serious adverse events were attributed to vosoritide. The most common adverse event remains mild and transient injection site reactions. Conclusions: The effect of vosoritide administration on growth as measured through AGV and height Z-score was maintained for up to 2-years in children with achondroplasia aged 5 to 18 years, with an improvement of body proportions.

Published
2021

15. SAT-LB18 A Randomized Controlled Trial of Vosoritide in Children With Achondroplasia

Author

Savarirayan, Ravi, Tofts, Louise, Irving, Melita, Wilcox, William, Bacino, Carlos A, Hoover-Fong, Julie, Font, Rosendo Ullot, Harmatz, Paul, Rutsch, Frank, Bober, Michael B, Polgreen, Lynda E, Ginebreda, Ignacio, Mohnike, Klaus, Charrow, Joel, Hoernschmeyer, Daniel, Ozono, Keiichi, Alanay, Yasemin, Arundel, Paul, Kagami, Shoji, Yasui, Natsuo, White, Klane, Saal, Howard M, Leiva-Gea, Antonio, Luna-Gonzáles, Felipe, Mochizuki, Hiroshi, Basel, Donald, Porco, Dania M, Jayaram, Kala, Fisheleva, Elena, Huntsman-Labed, Alice, and Day, Jonathan

Abstract

Abstract Background: Achondroplasia is a disorder caused by specific mutations in the gene encoding the fibroblast growth factor receptor 3 (FGFR3) protein. Open-label, phase 2 trials in children with achondroplasia showed that administration of vosoritide, an analogue of C-natriuretic peptide, resulted in sustained increases in annualized growth velocity. Methods: This international, randomized, double-blind, phase 3 trial compared once-daily subcutaneous administration of vosoritide, at a dose of 15 μg per kg of body weight, with placebo in children with achondroplasia aged 5 to

Published
2020

19. Growth characteristics in individuals with osteogenesis imperfecta in North America: results from a multicenter study

Author

Jain, Mahim, Tam, Allison, Shapiro, Jay R, Steiner, Robert D, Smith, Peter A, Bober, Michael B, Hart, Tracy, Cuthbertson, David, Krischer, Jeff, Mullins, Mary, Bellur, Sunil, Byers, Peter H, Pepin, Melanie, Durigova, Michaela, Glorieux, Francis H, Rauch, Frank, Lee, Brendan, Sutton, V Reid, , Members of the Brittle Bone Disorders Consortium*,, and Nagamani, Sandesh CS

Subjects
Osteogenesis Imperfecta, Nutrition, Pediatric, Obesity, Digestive Diseases, Prevention, Clinical Research, Congenital Structural Anomalies, Rare Diseases, Adolescent, Adult, Body Height, Body Mass Index, Body Weight, Child, Child, Preschool, Diphosphonates, Female, Humans, Male, North America, Pamidronate, Young Adult, Growth, Height, Natural history study, Osteogenesis imperfecta, Weight, Members of the Brittle Bone Disorders Consortium*, Genetics, Clinical Sciences, Genetics & Heredity
Abstract

PurposeOsteogenesis imperfecta (OI) predisposes people to recurrent fractures, bone deformities, and short stature. There is a lack of large-scale systematic studies that have investigated growth parameters in OI.MethodsUsing data from the Linked Clinical Research Centers, we compared height, growth velocity, weight, and body mass index (BMI) in 552 individuals with OI. Height, weight, and BMI were plotted on Centers for Disease Control and Prevention normative curves.ResultsIn children, the median z-scores for height in OI types I, III, and IV were -0.66, -6.91, and -2.79, respectively. Growth velocity was diminished in OI types III and IV. The median z-score for weight in children with OI type III was -4.55. The median z-scores for BMI in children with OI types I, III, and IV were 0.10, 0.91, and 0.67, respectively. Generalized linear model analyses demonstrated that the height z-score was positively correlated with the severity of the OI subtype (P

Published
2019

20. A multicenter study to evaluate pulmonary function in osteogenesis imperfecta

Author

Tam, Allison, Chen, Shan, Schauer, Evan, Grafe, Ingo, Bandi, Venkata, Shapiro, Jay R, Steiner, Robert D, Smith, Peter A, Bober, Michael B, Hart, Tracy, Cuthbertson, David, Krischer, Jeffrey, Mullins, Mary, Byers, Peter H, Sandhaus, Robert A, Durigova, Michaela, Glorieux, Francis H, Rauch, Frank, Sutton, Vernon Reid, Lee, Brendan, Consortium, Members of the Brittle Bone Disorders, Rush, Eric T, and Nagamani, Sandesh CS

Subjects
Congenital Structural Anomalies, Lung, Osteogenesis Imperfecta, Rare Diseases, Pediatric, Clinical Research, Good Health and Well Being, Adolescent, Adult, Aged, Child, Female, Forced Expiratory Volume, Humans, Male, Middle Aged, Respiratory Function Tests, Severity of Illness Index, Spirometry, Vital Capacity, Young Adult, lung disease, osteogenesis imperfecta, pulmonary function, spirometry, Members of the Brittle Bone Disorders Consortium, Genetics, Clinical Sciences, Genetics & Heredity
Abstract

Pulmonary complications are a significant cause for morbidity and mortality in osteogenesis imperfecta (OI). However, to date, there have been few studies that have systematically evaluated pulmonary function in individuals with OI. We analyzed spirometry measurements, including forced vital capacity (FVC) and forced expiratory volume in the first second (FEV1 ), in a large cohort of individuals with OI (n = 217) enrolled in a multicenter, observational study. We show that individuals with the more severe form of the disease, OI type III, have significantly reduced FVC and FEV1 which do not follow the expected trends of the normal population. We also show that "normalization" of FVC and FEV1 using general population data to generate percent predicted values underestimates the pulmonary involvement in OI. Within each subtype of OI, we used linear mixed models to find potential correlations between FEV1 and FVC with the clinical variables including mobility, bisphosphonate use, and scoliosis. Our results are an important step in understanding the extent of pulmonary involvement in individuals with OI and for developing pulmonary endpoints for use in the routine patient care as well as in the investigation of new therapies.

Published
2018

21. International Consensus Statement on the diagnosis, multidisciplinary management and lifelong care of individuals with achondroplasia

Author

Savarirayan, Ravi, Ireland, Penny, Irving, Melita, Thompson, Dominic, Alves, Inês, Baratela, Wagner A. R., Betts, James, Bober, Michael B., Boero, Silvio, Briddell, Jenna, Campbell, Jeffrey, Campeau, Philippe M., Carl-Innig, Patricia, Cheung, Moira S., Cobourne, Martyn, Cormier-Daire, Valérie, Deladure-Molla, Muriel, del Pino, Mariana, Elphick, Heather, Fano, Virginia, Fauroux, Brigitte, Gibbins, Jonathan, Groves, Mari L., Hagenäs, Lars, Hannon, Therese, Hoover-Fong, Julie, Kaisermann, Morrys, Leiva-Gea, Antonio, Llerena, Juan, Mackenzie, William, Martin, Kenneth, Mazzoleni, Fabio, McDonnell, Sharon, Meazzini, Maria Costanza, Milerad, Josef, Mohnike, Klaus, Mortier, Geert R., Offiah, Amaka, Ozono, Keiichi, Phillips, III, John A., Powell, Steven, Prasad, Yosha, Raggio, Cathleen, Rosselli, Pablo, Rossiter, Judith, Selicorni, Angelo, Sessa, Marco, Theroux, Mary, Thomas, Matthew, Trespedi, Laura, Tunkel, David, Wallis, Colin, Wright, Michael, Yasui, Natsuo, and Fredwall, Svein Otto

Published
2022
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29. RAB1A haploinsufficiency phenocopies the 2p14–p15 microdeletion and is associated with impaired neuronal differentiation

Author

Rios, Jonathan J., primary, Li, Yang, additional, Paria, Nandina, additional, Bohlender, Ryan J., additional, Huff, Chad, additional, Rosenfeld, Jill A., additional, Liu, Pengfei, additional, Bi, Weimin, additional, Haga, Kentaro, additional, Fukuda, Mitsunori, additional, Vashisth, Shayal, additional, Kaur, Kiran, additional, Chahrour, Maria H., additional, Bober, Michael B., additional, Duker, Angela L., additional, Ladha, Farah A., additional, Hanchard, Neil A., additional, Atala, Kristhen, additional, Khanshour, Anas M., additional, Smith, Linsley, additional, Wise, Carol A., additional, and Delgado, Mauricio R., additional

Published
2023
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31. Growth in achondroplasia including stature, weight, weight-for-height and head circumference from CLARITY: achondroplasia natural history study—a multi-center retrospective cohort study of achondroplasia in the US

Author

Hoover-Fong, Julie E., Schulze, Kerry J., Alade, Adekemi Y., Bober, Michael B., Gough, Ethan, Hashmi, S. Shahrukh, Hecht, Jacqueline T., Legare, Janet M., Little, Mary Ellen, Modaff, Peggy, Pauli, Richard M., Rodriguez-Buritica, David F., Serna, Maria E., Smid, Cory, Liu, Chengxin, and McGready, John

Published
2021
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33. Defining the clinical phenotype of Saul–Wilson syndrome

Author

Ferreira, Carlos R., Zein, Wadih M., Huryn, Laryssa A., Merker, Andrea, Berger, Seth I., Wilson, William G., Tiller, George E., Wolfe, Lynne A., Merideth, Melissa, Carvalho, Daniel R., Duker, Angela L., Bratke, Heiko, Haug, Marte Gjøl, Rohena, Luis, Hove, Hanne B., Xia, Zhi-Jie, Ng, Bobby G., Freeze, Hudson H., Gabriel, Melissa, Russi, Alvaro H. Serrano, Brick, Lauren, Kozenko, Mariya, Earl, Dawn L., Tham, Emma, Nishimura, Gen, Phillips, III, John A., Gahl, William A., Hamid, Rizwan, Jackson, Andrew P., Grigelioniene, Giedre, and Bober, Michael B.

Published
2020
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36. THU165 PROPEL, PROPEL 2 And PROPEL OLE Studies Of Infigratinib In Children With Achondroplasia: Design And Status Of 3 Ongoing Trials

Author

Savarirayan, Ravi, primary, De Bergua, Josep Maria, additional, Arundel, Paul, additional, McDevitt, Helen, additional, Cormier-Daire, Valerie, additional, Saraff, Vrinda, additional, Skae, Mars, additional, Delgado, Borja, additional, Leiva-Gea, Antonio, additional, Salcedo, Maria, additional, Salles, Jean-Pierre, additional, Nicolino, Marc P, additional, Rossi, Massimiliano, additional, Kannu, Peter, additional, Bober, Michael B, additional, Phillips, John, additional, Saal, Howard, additional, Harmatz, Paul, additional, Burren, Christine, additional, Candler, Toby, additional, Cho, Terry, additional, Muslimova, Elena, additional, Weng, Richard, additional, Rogoff, Daniela, additional, Hoover-Fong, Julie, additional, and Irving, Melita, additional

Published
2023
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37. THU156 Significantly Improved Annual Height Velocity With Once-Weekly TransCon CNP In Children With Achondroplasia: The ACcomplisH Phase 2, Randomized, Double-Blind, Placebo-Controlled, Dose-Escalation Trial

Author

Savarirayan, Ravi, primary, McDonnell, Ciara, additional, Hoernschemeyer, Daniel G, additional, Hove, Hanne B, additional, Zarate, Yuri A, additional, Bober, Michael B, additional, Bacino, Carlos A, additional, Legare, Janet M, additional, Högler, Wolfgang, additional, Quattrin, Teresa, additional, Abuzzahab, M Jennifer, additional, Hofman, Paul L, additional, White, Klane K, additional, Ma, Nina, additional, Schnabel, Dirk, additional, Sousa, Sérgio B, additional, Fan, Xiaolin, additional, Chakraborty, Mukta, additional, Giwa, Adebola, additional, Smith, Sharon E, additional, Volck, Birgitte, additional, and Shu, Aimee D, additional

Published
2023
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38. OR27-03 Oral Infigratinib Treatment Is Well Tolerated And Significantly Increases Height Velocity In Children With Achondroplasia: Month 6 Results From The PROPEL 2 Dose-finding Study

Author

Savarirayan, Ravi, primary, De Bergua, Josep Maria, additional, Arundel, Paul, additional, Salles, Jean Pierre, additional, Saraff, Vrinda, additional, Delgado, Borja, additional, Leiva-Gea, Antonio, additional, McDevitt, Helen, additional, Nicolino, Marc P, additional, Rossi, Massimiliano, additional, Salcedo, Maria, additional, Cormier-Daire, Valerie, additional, Skae, Mars, additional, Kannu, Peter, additional, Bober, Michael B, additional, Phillips, John, additional, Saal, Howard, additional, Harmatz, Paul, additional, Burren, Christine Pamela, additional, Candler, Toby, additional, Cho, Terry, additional, Muslimova, Elena, additional, Weng, Richard, additional, Raj, Supriya, additional, Hoover-Fong, Julie, additional, Irving, Melita, additional, and Rogoff, Daniela, additional

Published
2023
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39. THU181 Evaluation Of Bone Mineral Density In A Cohort Of Children With ACH Participating In The PROPEL 2 Study Of Infigratinib

Author

Savarirayan, Ravi, primary, De Bergua, Josep Maria, additional, Arundel, Paul, additional, Salles, Jean Pierre, additional, Leiva-Gea, Antonio, additional, Irving, Melita, additional, Saraff, Vrinda, additional, McDevitt, Helen, additional, Salcedo, Maria, additional, Nicolino, Marc P, additional, Cormier-Daire, Valerie, additional, Kannu, Peter, additional, Skae, Mars, additional, Bober, Michael B, additional, Phillips III, John, additional, Candler, Toby, additional, Harmatz, Paul, additional, Saal, Howard, additional, Hoover-Fong, Julie, additional, Muslimova, Elena, additional, Cho, Terry, additional, Weng, Richard, additional, and Rogoff, Daniela, additional

Published
2023
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40. Achondroplasia Natural History Study (CLARITY): 60-year experience with hydrocephalus in achondroplasia from four skeletal dysplasia centers

Author

Campbell, Jeffrey, primary, Legare, Janet M., additional, Piatt, Joseph, additional, Gough, Ethan, additional, Pauli, Richard M., additional, Hashmi, S. Shahrukh, additional, Rodriguez-Buritica, David F., additional, Modaff, Peggy, additional, Little, Mary Ellen, additional, Serna, Maria Elena, additional, Smid, Cory J., additional, Dujmusic, Lorena, additional, Hecht, Jacqueline T., additional, Hoover-Fong, Julie E., additional, and Bober, Michael B., additional

Published
2023
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41. Mobility in osteogenesis imperfecta: a multicenter North American study

Author

Kruger, Karen M., Caudill, Angela, Rodriguez Celin, Mercedes, Nagamani, Sandesh C. S., Shapiro, Jay R., Steiner, Robert D., Bober, Michael B., Hart, Tracy, Cuthbertson, David, Krischer, Jeff, Byers, Peter H., Durigova, Michaela, Glorieux, Francis H., Rauch, Frank, Sutton, V. Reid, Lee, Brendan, Rush, Eric T., Smith, Peter A., and Harris, Gerald F.

Published
2019
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44. Overlapping and Distinct Features of Cardiac Pathology in Inherited Human and Murine Ether Lipid Deficiency

Author

Dorninger, Fabian, primary, Kiss, Attila, additional, Rothauer, Peter, additional, Stiglbauer-Tscholakoff, Alexander, additional, Kummer, Stefan, additional, Fallatah, Wedad, additional, Perera-Gonzalez, Mireia, additional, Hamza, Ouafa, additional, König, Theresa, additional, Bober, Michael B., additional, Cavallé-Garrido, Tiscar, additional, Braverman, Nancy E., additional, Forss-Petter, Sonja, additional, Pifl, Christian, additional, Bauer, Jan, additional, Bittner, Reginald E., additional, Helbich, Thomas H., additional, Podesser, Bruno K., additional, Todt, Hannes, additional, and Berger, Johannes, additional

Published
2023
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45. Impact of delivery route on postnatal surgical morbidity in fetal achondroplasia: a multicenter cohort study

Author

Brar, Bobby, primary, Hoover-Fong, Julie E., additional, Gough, Ethan, additional, Hashmi, S. Shahrukh, additional, Hecht, Jacqueline T., additional, Legare, Janet M., additional, Dujmusic, Lorena, additional, Little, Mary E., additional, Modaff, Peggy, additional, Pauli, Richard M., additional, Rodriguez – Buritica, David, additional, Serna, Maria E., additional, Smid, Cory, additional, and Bober, Michael B., additional

Published
2023
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46. PCNT point mutations and familial intracranial aneurysms

Author

Lorenzo-Betancor, Oswaldo, Blackburn, Patrick R., Edwards, Emily, Vázquez-do-Campo, Rocío, Klee, Eric W., Labbé, Catherine, Hodges, Kyndall, Glover, Patrick, Sigafoos, Ashley N., Soto, Alexandra I., Walton, Ronald L., Doxsey, Stephen, Bober, Michael B., Jennings, Sarah, Clark, Karl J., Asmann, Yan, Miller, David, Freeman, William D., Meschia, James, and Ross, Owen A.

Published
2018
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47. Growth parameters in children with achondroplasia: A 7-year, prospective, multinational, observational study

Author

Savarirayan, Ravi, primary, Irving, Melita, additional, Harmatz, Paul, additional, Delgado, Borja, additional, Wilcox, William R., additional, Philips, John, additional, Owen, Natalie, additional, Bacino, Carlos A., additional, Tofts, Louise, additional, Charrow, Joel, additional, Polgreen, Lynda E., additional, Hoover-Fong, Julie, additional, Arundel, Paul, additional, Ginebreda, Ignacio, additional, Saal, Howard M., additional, Basel, Donald, additional, Font, Rosendo Ullot, additional, Ozono, Keiichi, additional, Bober, Michael B., additional, Cormier-Daire, Valerie, additional, Le Quan Sang, Kim-Hanh, additional, Baujat, Genevieve, additional, Alanay, Yasemin, additional, Rutsch, Frank, additional, Hoernschemeyer, Daniel, additional, Mohnike, Klaus, additional, Mochizuki, Hiroshi, additional, Tajima, Asako, additional, Kotani, Yumiko, additional, Weaver, David D., additional, White, Klane K., additional, Army, Clare, additional, Larrimore, Kevin, additional, Gregg, Keith, additional, Jeha, George, additional, Milligan, Claire, additional, Fisheleva, Elena, additional, Huntsman-Labed, Alice, additional, and Day, Jonathan, additional

Published
2022
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48. Additional file 1 of Achondroplasia natural history study (CLARITY): 60-year experience in orthopedic surgery from four skeletal dysplasia centers

Author

Nahm, Nickolas J., Mackenzie, W. G. Stuart, Mackenzie, William G., Gough, Ethan, Hashmi, S. Shahrukh, Hecht, Jacqueline T., Legare, Janet M., Little, Mary Ellen, Modaff, Peggy, Pauli, Richard M., Rodriguez-Buritica, David F., Serna, Maria Elena, Smid, Cory J., Hoover-Fong, Julie, and Bober, Michael B.

Abstract

Additional file 1: Figure S1. Kaplan Meier curve for spine procedures performed by center. Spine surgeries happened later in life in three of four centers that treat adult patients. No patients older than 35 years of age received surgery at duPont.

Published
2023
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49. Additional file 2 of Achondroplasia natural history study (CLARITY): 60-year experience in orthopedic surgery from four skeletal dysplasia centers

Author

Nahm, Nickolas J., Mackenzie, W. G. Stuart, Mackenzie, William G., Gough, Ethan, Hashmi, S. Shahrukh, Hecht, Jacqueline T., Legare, Janet M., Little, Mary Ellen, Modaff, Peggy, Pauli, Richard M., Rodriguez-Buritica, David F., Serna, Maria Elena, Smid, Cory J., Hoover-Fong, Julie, and Bober, Michael B.

Abstract

Additional file 2: Figure S2. Kaplan Meier curve for lower extremity procedures performed by center. Most lower extremity procedures were performed before the age of 20 years old at each center. A second cluster of lower extremity procedures was performed in older patients at two centers.

Published
2023
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50. Mutations in DONSON disrupt replication fork stability and cause microcephalic dwarfism

Author

Reynolds, John J, Bicknell, Louise S, Carroll, Paula, Higgs, Martin R, Shaheen, Ranad, Murray, Jennie E, Papadopoulos, Dimitrios K, Leitch, Andrea, Murina, Olga, Tarnauskaitė, Žygimantė, Wessel, Sarah R, Zlatanou, Anastasia, Vernet, Audrey, von Kriegsheim, Alex, Mottram, Rachel M A, Logan, Clare V, Bye, Hannah, Li, Yun, Brean, Alexander, Maddirevula, Sateesh, Challis, Rachel C, Skouloudaki, Kassiani, Almoisheer, Agaadir, Alsaif, Hessa S, Amar, Ariella, Prescott, Natalie J, Bober, Michael B, Duker, Angela, Faqeih, Eissa, Seidahmed, Mohammed Zain, Al Tala, Saeed, Alswaid, Abdulrahman, Ahmed, Saleem, Al-Aama, Jumana Yousuf, Altmüller, Janine, Al Balwi, Mohammed, Brady, Angela F, Chessa, Luciana, Cox, Helen, Fischetto, Rita, Heller, Raoul, Henderson, Bertram D, Hobson, Emma, Nürnberg, Peter, Percin, E Ferda, Peron, Angela, Spaccini, Luigina, Quigley, Alan J, Thakur, Seema, Wise, Carol A, Yoon, Grace, Alnemer, Maha, Tomancak, Pavel, Yigit, Gökhan, Taylor, A Malcolm R, Reijns, Martin A M, Simpson, Michael A, Cortez, David, Alkuraya, Fowzan S, Mathew, Christopher G, Jackson, Andrew P, and Stewart, Grant S

Published
2017
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