Zobrazeno 1 - 3
of 3
pro vyhledávání: '"Frédéric Huet"'
Autor:
Jean Donadieu, Delphine Héron, Laurence Faivre, Salima El Chehadeh, Daphné Lehalle, Claire Briandet, Elodie Gautier, Julien Thevenon, Daniel Amram, Thibaud Jouan, Jean-Baptiste Rivière, Judith Melki, Laurence Duplomb-Jego, Frédéric Huet, Christine Bellanné-Chantelot, Christel Thauvin-Robinet, Ange-Line Bruel, Yannis Duffourd, Lucile Pinson, Isabelle Maystadt, Judith St-Onge, Sophia Julia, Alexandra Gauthier-Vasserot, Paul Kuentz
Publikováno v:
American Journal of Medical Genetics Part A
American Journal of Medical Genetics Part A, Wiley, 2016, ⟨10.1002/ajmg.a.37969⟩
American Journal of Medical Genetics Part A, Wiley, 2016, 〈10.1002/ajmg.a.37969〉
American Journal of Medical Genetics Part A, 2016, ⟨10.1002/ajmg.a.37969⟩
American Journal of Medical Genetics Part A, Wiley, 2016, ⟨10.1002/ajmg.a.37969⟩
American Journal of Medical Genetics Part A, Wiley, 2016, 〈10.1002/ajmg.a.37969〉
American Journal of Medical Genetics Part A, 2016, ⟨10.1002/ajmg.a.37969⟩
International audience; Neutropenia can be qualified as congenital when of neonatal onset or when associated with extra-hematopoietic manifestations. Overall, 30% of patients with congenital neutropenia (CN) remain without a molecular diagnosis after
Autor:
Sebastien Moutton, Aurore Garde, Laurence Faivre, François Feillet, Christel Thauvin-Robinet, Paul Kuentz, Antonio Vitobello, Frédéric Huet, Arthur Sorlin, Roberto Colombo, Nada Houcinat, Yannis Duffourd, Caroline Racine, Julian Delanne, Christophe Philippe, Daphné Lehalle, Michael J. O'Grady, Julien Thevenon, Frédéric Tran Mau-Them, Bénédicte Héron, Sandrine Marlin, Sophie Nambot
Publikováno v:
American journal of medical genetics. Part A. 179(9)
Alpha-mannosidosis (AM) is a very rare (prevalence: 1/500000 births) autosomal recessive lysosomal storage disorder. It is characterized by multi-systemic involvement associated with progressive intellectual disability, hearing loss, skeletal anomali
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