Zobrazeno 1 - 6
of 6
pro vyhledávání: '"Elena Muslimova"'
Autor:
Ravi Savarirayan, Josep Maria De Bergua, Paul Arundel, Helen McDevitt, Valerie Cormier-Daire, Vrinda Saraff, Mars Skae, Borja Delgado, Antonio Leiva-Gea, Fernando Santos-Simarro, Jean Pierre Salles, Marc Nicolino, Massimiliano Rossi, Peter Kannu, Michael B. Bober, John Phillips, Howard Saal, Paul Harmatz, Christine Burren, Garrett Gotway, Terry Cho, Elena Muslimova, Richard Weng, Daniela Rogoff, Julie Hoover-Fong, Melita Irving
Publikováno v:
Therapeutic Advances in Musculoskeletal Disease, Vol 14 (2022)
Background: Achondroplasia 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 treatme
Externí odkaz:
https://doaj.org/article/1c346c9389564e0d8a57401f2309d651
Autor:
Elena Muslimova, Julie Hoover-Fong, Susan D Mathias, Ravi Savarirayan, Chandler Crews, Inês Alves, Susana Noval Iruretagoyena, Amer Haider, Terry Cho, Anne Lee, Hilary H Colwell
Publikováno v:
Journal of the Endocrine Society. 6:A631-A632
Background Achondroplasia (ACH) is the most common form of non-lethal skeletal dysplasia affecting 1 in 25,000 live births. Individuals with ACH experience various medical symptoms/complications and impacts during their lifetime. Qualitative research
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::732e971f5ad961bb3d0034cb5d20ecdf
https://doi.org/10.1210/jendso/bvac150.1308
https://doi.org/10.1210/jendso/bvac150.1308
Autor:
Elena Muslimova, Julie Hoover-Fong, Susan D Mathias, Ravi Savarirayan, Chandler Crews, Inês Alves, Veterinary Medicine, Susana Noval Iruretagoyena, Amer Haider, Terry Cho, Anne Lee, Hilary H Colwell
Publikováno v:
Journal of the Endocrine Society. 6:A630-A631
Background Achondroplasia (ACH) is the most common non-lethal form of skeletal dysplasia affecting 1 in 25,000 live births. Individuals with ACH experience various medical, emotional, and functional challenges during their lifetime. Qualitative resea
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::68a70c9d11071f6721f7268439748709
https://doi.org/10.1210/jendso/bvac150.1307
https://doi.org/10.1210/jendso/bvac150.1307
Autor:
Daniela Rogoff, Josep Maria De Bergua, Ravi Savarirayan, Paul Arundel, Jean Pierre Salles, Antonio Leiva-Gea, Melita Irving, Vrinda Saraff, Helen McDevitt, Fernando Santos-Simarro, Marc Nicolino, Valerie Cormier-Daire, Peter Kannu, Mars Skae, Michael B Bober, John Phillips III, Christine Burren, Paul Harmatz, Howard Saal, Julie Hoover-Fong, Elena Muslimova, Terry Cho, Richard Weng
Publikováno v:
Journal of the Endocrine Society. 6:A632-A633
Background Achondroplasia (ACH) is the most common short-limbed skeletal dysplasia, affecting between 1 in 15,000 to 1 in 30,000 live births. Children and adults with ACH have disproportionate short stature and are at risk for several significant co-
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::69684a5b210f279f5ff19e008ee34677
https://doi.org/10.1210/jendso/bvac150.1310
https://doi.org/10.1210/jendso/bvac150.1310
Autor:
Melita Irving, Josep Maria De Bergua, Daniela Rogoff, Ravi Savarirayan, Paul Arundel, Jean Pierre Salles, Antonio Leiva-Gea, Vrinda Saraff, Helen McDevitt, Fernando Santos-Simarro, Marc Nicolino, Valerie Cormier-Daire, Peter Kannu, Mars Skae, Michael B Bober, John Phillips III, Christine Burren, Paul Harmatz, Howard Saal, Julie Hoover-Fong, Richard Weng, Elena Muslimova, Terry Cho
Publikováno v:
Journal of the Endocrine Society. 6:A644-A644
Background Achondroplasia (ACH) is the most common short-limbed skeletal dysplasia, affecting between 1 in 15,000 to 1 in 30,000 live births. People with ACH are at risk for several significant co-morbidities, including foramen magnum stenosis, obstr
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::a2d3e3c0a7c39cf013737fe1cf3deea1
https://doi.org/10.1210/jendso/bvac150.1332
https://doi.org/10.1210/jendso/bvac150.1332
Autor:
Elena Muslimova, Josep Maria De Bergua, Ravi Savarirayan, Paul Arundel, Helen McDevitt, Valerie Cormier-Daire, Vrinda Saraff, Mars Skae, Borja Delgado, Antonio Leiva-Gea, Fernando Santos-Simarro, Jean Pierre Salles, Marc Nicolino, Massimiliano Rossi, Peter Kannu, Michael B Bober, John Phillips III, Howard Saal, Paul Harmatz, Christine Burren, Garrett Gotway, Terry Cho, Richard Weng, Daniela Rogoff, Julie Hoover-Fong, Melita Irving
Publikováno v:
Journal of the Endocrine Society. 6:A633-A633
Background Achondroplasia (ACH), the most common non-lethal form of skeletal dysplasia, is characterized by defective endochondral ossification resulting from gain-of-function mutations in the fibroblast growth factor receptor 3 (FGFR3) gene, a negat
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::c1bafeb87050fd1f69e9d253070e954d
https://doi.org/10.1210/jendso/bvac150.1311
https://doi.org/10.1210/jendso/bvac150.1311