Zobrazeno 1 - 5
of 5
pro vyhledávání: '"Frédéric Huet"'
Autor:
Michel Francoise, Patrick Callier, Steven A. Vokes, Susanne Kjaergaard, Laurence Duplomb, Thomas Lee Dahm, Julien Thevenon, Nicole Monnier, Marie Hélène Aubriot-Lorton, Frédéric Huet, Tara Montgomery, Haley O. Tucker, Clémence Ragon, Nathalie Marle, Katherine Neas, Francine Mugneret, Pierre-Simon Jouk, Joël Lunardi, Klaus Dieterich, Laurence Faivre, Christel Thauvin-Robinet, Anne Laure Mosca-Boidron, Joanne Dixon
Publikováno v:
American Journal of Medical Genetics Part A
American Journal of Medical Genetics Part A, Wiley, 2014, pp.3027-34. 〈10.1002/ajmg.a.36751〉
American Journal of Medical Genetics Part A, Wiley, 2014, pp.3027-34. ⟨10.1002/ajmg.a.36751⟩
American Journal of Medical Genetics Part A, Wiley, 2014, pp.3027-34. 〈10.1002/ajmg.a.36751〉
American Journal of Medical Genetics Part A, Wiley, 2014, pp.3027-34. ⟨10.1002/ajmg.a.36751⟩
International audience; Distal limb contractures (DLC) represent a heterogeneous clinical and genetic condition. Overall, 20–25% of the DLC are caused by mutations in genes encoding the muscle contractile apparatus. Large interstitial deletions of
Autor:
Guillaume Jondeau, Nathalie Ruiz-Pallares, Jean-Damien Metaizeau, Christel Thauvin-Robinet, Frédéric Huet, Francine Mugneret, Fanny Coron, Bruno Leheup, Catherine Boileau, Edith Durand, Patrick Callier, Laurence Faivre, Philippe Khau Van Kien, Aurélie Plancke, Jean-Eric Wolf, Samuel Bidot, Delphine Minot, Corinne Baudoin, Véronique Dulieu, Mireille Claustres
Publikováno v:
European Journal of Medical Genetics
European Journal of Medical Genetics, Elsevier, 2010, 53 (4), pp.208-212. ⟨10.1016/j.ejmg.2010.05.002⟩
European Journal of Medical Genetics, Elsevier, 2010, 53 (4), pp.208-212. ⟨10.1016/j.ejmg.2010.05.002⟩
International audience; Interstitial deletions involving the 15q21.1 band are very rare. Only 4 of these cases have been studied using molecular cytogenetic techniques in order to confirm the deletion of the whole FBN1 gene. The presence of clinical
Autor:
Patrick Callier, Francine Mugneret, Marc Labenne, Nathalie Marle, P. Gosset, Damien Sanlaville, C. Thauvin-Robinet, Marguerite Prieur, Laurence Faivre, Frédéric Huet
Publikováno v:
American Journal of Medical Genetics Part A. :1859-1863
We report on a 4-year-old female presenting with intrauterine growth retardation, facial dysmorphic features, major feeding difficulties with severe diarrhea and vomiting, mental retardation with abnormal behavior and hypertonia. Feeding difficulties
Autor:
Hélène Poquet, Iben Bache, Bruno Vergès, Patrick Callier, Maria Luigia Cavaliere, Stanislas Lyonnet, Jean Paul Girod, Alice Masurel-Paulet, Valérie Malan, Anne Laure Mosca-Boidron, Nathalie Marle, Laurence Faivre, Antonio Novelli, Björn Menten, Julien Thevenon, Bart Loeys, Christel Thauvin-Robinet, Salima El Chehadeh, Frédéric Huet, Zeynep Tümer, Jean-Michel Petit, Jean Michel Pinoit, Francine Mugneret
Publikováno v:
Journal of medical genetics
Background Since the advent of array-CGH, numerous new microdeletional syndromes have been delineated while others remain to be described. Although 3q29 subtelomeric deletion is a well-described syndrome, there is no report on 3q interstitial deletio
Autor:
Frédéric Huet, Alice Goldenberg, Armand Bottani, Sandy Lambert, Estelle Lopez, Laurence Duplomb, Bérénice Doray, Valérie Cormier-Daire, Patrick Callier, Anne Moncla, Bernard Aral, Laurence Faivre, Lucie Gueneau, Christel Thauvin-Robinet, Sylvie Odent, Damien Sanlaville, Didier Lacombe
Publikováno v:
American Journal of Medical Genetics Part A
American Journal of Medical Genetics Part A, 2012, 158A (2), pp.333-9. ⟨10.1002/ajmg.a.34401⟩
American Journal of Medical Genetics Part A, Wiley, 2012, 158A (2), pp.333-9. 〈10.1002/ajmg.a.34401〉
American Journal of Medical Genetics Part A, Wiley, 2012, 158A (2), pp.333-9. ⟨10.1002/ajmg.a.34401⟩
American Journal of Medical Genetics Part A, 2012, 158A (2), pp.333-9. ⟨10.1002/ajmg.a.34401⟩
American Journal of Medical Genetics Part A, Wiley, 2012, 158A (2), pp.333-9. 〈10.1002/ajmg.a.34401〉
American Journal of Medical Genetics Part A, Wiley, 2012, 158A (2), pp.333-9. ⟨10.1002/ajmg.a.34401⟩
International audience; Floating-Harbor syndrome (FHS) is characterized by characteristic facial dysmorphism, short stature with delayed bone age, and expressive language delay. To date, the gene(s) responsible for FHS is (are) unknown and the diagno
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6c0f4e32b140a83e1b246a2952a8cd8d
https://www.hal.inserm.fr/inserm-00662892
https://www.hal.inserm.fr/inserm-00662892