Zobrazeno 1 - 10
of 50
pro vyhledávání: '"Antonio Leiva"'
Autor:
Silvio Boero, Julia Vodopiutz, Mohamad Maghnie, Josep M. de Bergua, Ignacio Ginebreda, Hiroshi Kitoh, Micha Langendörfer, Antonio Leiva-Gea, Jason Malone, Philip McClure, Gabriel T. Mindler, Dmitry Popkov, Robert Rodl, Pablo Rosselli, Fabio Verdoni, Viktor Vilenskii, Aaron J. Huser
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 19, Iss 1, Pp 1-15 (2024)
Abstract Background Achondroplasia is the most common form of skeletal disorder with disproportionate short stature. Vosoritide is the first disease-specific, precision pharmacotherapy to increase growth velocity in children with achondroplasia. Limb
Externí odkaz:
https://doaj.org/article/3018a155bca34461815964d4e16d6c29
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:
Mohamad Maghnie, Oliver Semler, Encarna Guillen-Navarro, Angelo Selicorni, Karen E. Heath, Gabriele Haeusler, Lars Hagenäs, Andrea Merker, Antonio Leiva-Gea, Vanesa López González, Adalbert Raimann, Mirko Rehberg, Fernando Santos-Simarro, Diana-Alexandra Ertl, Pernille Axél Gregersen, Roberta Onesimo, Erik Landfeldt, James Jarrett, Jennifer Quinn, Richard Rowell, Jeanne Pimenta, Shelda Cohen, Thomas Butt, Renée Shediac, Swati Mukherjee, Klaus Mohnike
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 18, Iss 1, Pp 1-19 (2023)
Abstract Background Achondroplasia, caused by a pathogenic variant in the fibroblast growth factor receptor 3 gene, is the most common skeletal dysplasia. The Lifetime Impact of Achondroplasia Study in Europe (LIAISE; NCT03449368) aimed to quantify t
Externí odkaz:
https://doaj.org/article/396b4128425f4efaa0a0c79776e03d51
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:
Antonio Leiva Gea, María F. Martos Lirio, Ana Coral Barreda Bonis, Silvia Marín del Barrio, Karen E. Heath, Purificacion Marín Reina, Encarna Guillén Navarro, Fernando Santos Simarro, Isolina Riaño Galán, Diego Yeste Fernández, Isabel Leiva-Gea
Publikováno v:
Anales de Pediatría, Vol 97, Iss 6, Pp 423-423.e10 (2022)
Resumen: La acondroplasia requiere un seguimiento multidisciplinario, con el objetivo de prevenir y manejar las complicaciones, mejorar la calidad de vida y favorecer su independencia e inclusión social. Esta revisión se justifica por las múltiple
Externí odkaz:
https://doaj.org/article/e1c5ef52154b4fad8688d3cbad15254d
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
Publikováno v:
Lecturas: Educación Física y Deportes. 26:109-120
Introducción: El diseño del contenido de la preparación del deportista posibilita optimizar la preparación deportiva, donde se incluye el perfeccionamiento de la técnica deportiva en Sóftbol. Objetivo: Validar un sistema de ejercicios para perf
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::a5a0fb0746f0a7d49aedc23e80f43321
https://doi.org/10.46642/efd.v26i283.3243
https://doi.org/10.46642/efd.v26i283.3243
Publikováno v:
In Trauma Case Reports October 2024 53
Autor:
Howard M. Saal, Carlos A. Bacino, Klaus Mohnike, Daniel Hoernschemeyer, Paul Harmatz, Yumiko Kotani, Julie Hoover-Fong, Jonathan Day, Frank Rutsch, Keiichi Ozono, Alice Huntsman-Labed, Joel Charrow, Rosendo Ullot Font, Elena Fisheleva, Antonio Leiva-Gea, Felipe Luna-González, Donald Basel, Natsuo Yasui, Lynda E. Polgreen, Kala Jayaram, Hiroshi Mochizuki, Ravi Savarirayan, Ignacio Ginebreda, Louise Tofts, Paul Arundel, Michael B. Bober, William R. Wilcox, Yasemin Alanay, Klane K. White, Melita Irving, Dania M Porco
Publikováno v:
GENETICS IN MEDICINE
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instname
Genetics in medicine : official journal of the American College of Medical Genetics, vol 23, iss 12
Genetics in Medicine
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instname
Genetics in medicine : official journal of the American College of Medical Genetics, vol 23, iss 12
Genetics in Medicine
Author(s): 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,
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a07ca192ca4d05488140084f1d5f490f
https://doi.org/10.1530/ey.19.5.3
https://doi.org/10.1530/ey.19.5.3