Zobrazeno 1 - 10
of 31
pro vyhledávání: '"Howard, Saal"'
Autor:
Ravi Savarirayan, William Wilcox, Paul Harmatz, John Phillips, III, Lynda Polgreen, Louise Tofts, Keiichi Ozono, Paul Arundel, Melita Irving, Carlos Bacino, Donald Basel, Ricki Carroll, Joel Charrow, Hiroshi Mochizuki, Yumiko Kotani, Howard Saal, Lingling Han, Andrea Low, Elena Fisheleva, Jonathan Day
Publikováno v:
Genetics in Medicine Open, Vol 2, Iss , Pp 101028- (2024)
Externí odkaz:
https://doaj.org/article/848e38cda46d4c7a890843f69282c6c4
Autor:
Ravi Savarirayan, Louise Tofts, Melita Irving, William Wilcox, Carlos Bacino, Julie Hoover-Fong, Rosendo Ullot Font, Paul Harmatz, Frank Rutsch, Ricki Carroll, Lynda Polgreen, Ignacio Ginebreda, Klaus Mohnike, Joel Charrow, Carlos Prada, Daniel Hoernschemeyer, Keiichi Ozono, Takuo Kubota, Yasemin Alanay, Paul Arundel, Yumiko Kotani, Natsuo Yasui, Klane White, Shelley Brandstetter, Howard Saal, Antonio Leiva-Gea, Felipe Luna-González, Hiroshi Mochizuki, Asako Tajima, Donald Basel, Elena Fisheleva, Andrea Low, Sue Lawrinson, Jonathan Day
Publikováno v:
Genetics in Medicine Open, Vol 2, Iss , Pp 101036- (2024)
Externí odkaz:
https://doaj.org/article/d444baf1306a40b8b82f2f3f208e1f3e
Autor:
Ravi Savarirayan, Louise Tofts, Melita Irving, William Wilcox, Carlos Bacino, Julie Hoover-Fong, Rosendo Ullot Font, Paul Harmatz, Frank Rutsch, Ricki Carroll, Lynda Polgreen, Ignacio Ginebreda, Klaus Mohnike, Joel Charrow, Carlos Prada, Daniel Hoernschemeyer, Keiichi Ozono, Takuo Kubota, Yasemin Alanay, Paul Arundel, Yumiko Kotani, Natsuo Yasui, Klane White, Shelley Brandstetter, Howard Saal, Antonio Leiva-Gea, Felipe Luna-González, Hiroshi Mochizuki, Asako Tajima, Donald Basel, Elena Fisheleva, Richard Rowell, Alice Huntsman Labed, Jonathan Day
Publikováno v:
Genetics in Medicine Open, Vol 2, Iss , Pp 101038- (2024)
Externí odkaz:
https://doaj.org/article/974a5c00c4b44b7f8f7d001a9668a033
Autor:
Carlos Bacino, Ravi Savarirayan, William Wilcox, Paul Harmatz, John Phillips, Lynda Polgreen, Louise Tofts, Keiichi Ozono, Paul Arundel, Melita Irving, Donald Basel, Michael Bober, Joel Charrow, Hiroshi Mochizuki, Yumiko Kotani, Howard Saal, George Jeha, Lynn Han, Elena Fisheleva, Alice Huntsman-Labed, Jonathan Day
Publikováno v:
Genetics in Medicine Open, Vol 1, Iss 1, Pp 100118- (2023)
Externí odkaz:
https://doaj.org/article/4ef74f3924c244c6a347e82de79a2678
Autor:
Julie Hoover-Fong, Ravi Savarirayan, Louise Tofts, Melita Irving, William Wilcox, Carlos Bacino, Rosendo Ullot Font, Paul Harmatz, Frank Rutsch, Michael Bober, Lynda Polgreen, Ignacio Ginebreda, Klaus Mohnike, Joel Charrow, Daniel Hoernschemeyer, Keiichi Ozono, Yasemin Alanay, Paul Arundel, Shoji Kagami, Natsuo Yasui, Klane White, Howard Saal, Antonio Leiva-Gea, Felipe Luna-González, Hiroshi Mochizuki, Donald Basel, Dania Porco, Kala Jayaram, Elena Fisheleva, Sue Lawrinson, Jonathan Day
Publikováno v:
Genetics in Medicine Open, Vol 1, Iss 1, Pp 100222- (2023)
Externí odkaz:
https://doaj.org/article/4f5f1607f51849a8afba6cd0d6181111
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:
Yue Yin Xia, Jacek Gronwald, Beth Karlan, Jan Lubinski, Jeanna M. McCuaig, Jennifer Brooks, Pal Moller, Andrea Eisen, Sophie Sun, Leigha Senter, Louise Bordeleau, Susan L. Neuhausen, Christian F. Singer, Nadine Tung, William D. Foulkes, Ping Sun, Steven A. Narod, Joanne Kotsopoulos, Rinat Yerushalmi, Robert Fruscio, Antonella Rastelli, Stefania Zovato, Zerin Hyder, Tomasz Huzarski, Cezary Cybulski, Kevin Sweet, Marie Wood, Wendy McKinnon, Christine Elser, Tuya Pal, Georgia Wiesner, Eitan Friedman, Wendy Meschino, Carrie Snyder, Kelly Metcalfe, Aletta Poll, Nicole Gojska, Ellen Warner, Raymond H. Kim, Barry Rosen, Rochelle Demsky, Peter Ainsworth, Karen Panabaker, Linda Steele, Howard Saal, Kim Serfas, Seema Panchal, Carey A. Cullinane, Robert E. Reilly, Joanne L. Blum, Ava Kwong, Daniel Rayson, Claudine Isaacs, Teresa Ramón y Cajal, Jeffrey Dungan, Stephanie Cohen
Publikováno v:
Gynecologic Oncology. 164:514-521
Background BRCA1 and BRCA2 (BRCA) mutation carriers face a high lifetime risk of developing ovarian cancer. Oral contraceptives are protective in this population; however, the impact of other types of contraception (e.g. intrauterine devices, implant
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::adf30f48f5423bb85725814f17ef8fc7
https://doi.org/10.1016/j.ygyno.2022.01.014
https://doi.org/10.1016/j.ygyno.2022.01.014
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