Zobrazeno 1 - 10
of 187
pro vyhledávání: '"Geneviève, Baujat"'
Autor:
Robert J. Pignolo, Mona Al Mukaddam, Geneviève Baujat, Matthew A. Brown, Carmen De Cunto, Edward C. Hsiao, Richard Keen, Kim-Hanh Le Quan Sang, Donna R. Grogan, Rose Marino, Andrew R. Strahs, Frederick S. Kaplan
Publikováno v:
BMC Medical Research Methodology, Vol 23, Iss 1, Pp 1-13 (2023)
Abstract Background The design of clinical trials in rare diseases is often complicated by a lack of real-world translational knowledge. Fibrodysplasia ossificans progressiva (FOP) is an ultra-rare genetic disorder characterized by skeletal malformat
Externí odkaz:
https://doaj.org/article/3d06cf9e3e804e1d98d678d462963546
Autor:
Melita Irving, Moeenaldeen AlSayed, Paul Arundel, Geneviève Baujat, Tawfeg Ben-Omran, Silvio Boero, Valérie Cormier-Daire, Svein Fredwall, Encarna Guillen-Navarro, Heike Hoyer-Kuhn, Philip Kunkel, Christian Lampe, Mohamad Maghnie, Klaus Mohnike, Geert Mortier, Sérgio B. Sousa
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 18, Iss 1, Pp 1-8 (2023)
Abstract Foramen magnum stenosis is a serious, and potentially life-threatening complication of achondroplasia. The foramen magnum is smaller in infants with achondroplasia, compared with the general population, and both restricted growth in the firs
Externí odkaz:
https://doaj.org/article/eb78080e2c434377aaa9e8a9291addef
Autor:
Anne Morice, Maxime Taverne, Sophie Eché, Lucie Griffon, Brigitte Fauroux, Nicolas Leboulanger, Vincent Couloigner, Geneviève Baujat, Valérie Cormier-Daire, Arnaud Picard, Laurence Legeai-Mallet, Natacha Kadlub, Roman Hossein Khonsari
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 18, Iss 1, Pp 1-13 (2023)
Abstract Background Achondroplasia is the most frequent FGFR3-related chondrodysplasia, leading to rhizomelic dwarfism, craniofacial anomalies, stenosis of the foramen magnum, and sleep apnea. Craniofacial growth and its correlation with obstructive
Externí odkaz:
https://doaj.org/article/f9fb840ffea7428da972b71c8a8dc77c
Autor:
Quentin Hennocq, Thomas Bongibault, Sandrine Marlin, Jeanne Amiel, Tania Attie-Bitach, Geneviève Baujat, Lucile Boutaud, Georges Carpentier, Pierre Corre, Françoise Denoyelle, François Djate Delbrah, Maxime Douillet, Eva Galliani, Wuttichart Kamolvisit, Stanislas Lyonnet, Dan Milea, Véronique Pingault, Thantrira Porntaveetus, Sandrine Touzet-Roumazeille, Marjolaine Willems, Arnaud Picard, Marlène Rio, Nicolas Garcelon, Roman H. Khonsari
Publikováno v:
Frontiers in Pediatrics, Vol 11 (2023)
IntroductionMandibulo-Facial Dysostosis with Microcephaly (MFDM) is a rare disease with a broad spectrum of symptoms, characterized by zygomatic and mandibular hypoplasia, microcephaly, and ear abnormalities. Here, we aimed at describing the external
Externí odkaz:
https://doaj.org/article/e72a58df2f8b494196509d3410ed6345
Autor:
Léa Loisay, Davide Komla-Ebri, Anne Morice, Yann Heuzé, Camille Viaut, Amélie de La Seiglière, Nabil Kaci, Danny Chan, Audrey Lamouroux, Geneviève Baujat, J.H. Duncan Bassett, Graham R. Williams, Laurence Legeai-Mallet
Publikováno v:
JCI Insight, Vol 8, Iss 12 (2023)
Hypochondroplasia (HCH) is a mild dwarfism caused by missense mutations in fibroblast growth factor receptor 3 (FGFR3), with the majority of cases resulting from a heterozygous p.Asn540Lys gain-of-function mutation. Here, we report the generation and
Externí odkaz:
https://doaj.org/article/70bb70a6bcf54661b19f721ef10cd021
Autor:
Samuel Kou, Carmen De Cunto, Geneviève Baujat, Kelly L. Wentworth, Donna R. Grogan, Matthew A. Brown, Maja Di Rocco, Richard Keen, Mona Al Mukaddam, Kim-Hanh le Quan Sang, Umesh Masharani, Frederick S. Kaplan, Robert J. Pignolo, Edward C. Hsiao
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 15, Iss 1, Pp 1-10 (2020)
Abstract Background Genetic contributors to cardiac arrhythmias are often found in cardiovascular conduction pathways and ion channel proteins. Fibrodysplasia ossificans progressiva (FOP) is an ultra-rare disease of massive heterotopic ossification c
Externí odkaz:
https://doaj.org/article/ecf5cd5133884fc7ab8361ac88baf204
Autor:
David Dawei Yang, Geneviève Baujat, Antoine Neuraz, Nicolas Garcelon, Claude Messiaen, Arnaud Sandrin, Gérard Cheron, Anita Burgun, Zagorka Pejin, Valérie Cormier-Daire, François Angoulvant
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 15, Iss 1, Pp 1-9 (2020)
Abstract Background Children with rare bone diseases (RBDs), whether medically complex or not, raise multiple issues in emergency situations. The healthcare burden of children with RBD in emergency structures remains unknown. The objective of this st
Externí odkaz:
https://doaj.org/article/440bf011fb0a44a7b4c9789b8319b39f
Autor:
Robert J. Pignolo, Geneviève Baujat, Matthew A. Brown, Carmen De Cunto, Maja Di Rocco, Edward C. Hsiao, Richard Keen, Mona Al Mukaddam, Kim-Hanh Le Quan Sang, Amy Wilson, Barbara White, Donna R. Grogan, Frederick S. Kaplan
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 14, Iss 1, Pp 1-11 (2019)
Abstract Background Fibrodysplasia Ossificans Progressiva (FOP; OMIM#135100) is an ultra-rare, severely disabling genetic disease characterized by congenital malformation of the great toes and progressive heterotopic ossification (HO) in muscles, ten
Externí odkaz:
https://doaj.org/article/e6cc4228a4494be991f5db29909762f4
Autor:
Robert J. Pignolo, Geneviève Baujat, Matthew A. Brown, Carmen De Cunto, Maja Di Rocco, Edward C. Hsiao, Richard Keen, Mona Al Mukaddam, Kim Hanh Le Quan Sang, Andrew Strahs, Rose Marino, Frederick S. Kaplan
Publikováno v:
Bone Reports, Vol 13, Iss , Pp 100607- (2020)
Externí odkaz:
https://doaj.org/article/f36899907b7e499e9d2620de71c717ca
Autor:
Robert J. Pignolo, Geneviève Baujat, Matthew A. Brown, Carmen De Cunto, Maja Di Rocco, Edward C. Hsiao, Richard Keen, Mona Al Mukaddam, Andrew Strahs, Donna R. Grogan, Rose Marino, Frederick S. Kaplan
Publikováno v:
Bone Reports, Vol 13, Iss , Pp 100609- (2020)
Externí odkaz:
https://doaj.org/article/800db7cf5eef47ba9acfef2c1a8b1db7