J
Jeanne Amiel
Researcher at Necker-Enfants Malades Hospital
Publications - 397
Citations - 22398
Jeanne Amiel is an academic researcher from Necker-Enfants Malades Hospital. The author has contributed to research in topics: Exome sequencing & Gene. The author has an hindex of 72, co-authored 379 publications receiving 20232 citations. Previous affiliations of Jeanne Amiel include University of Paris & Paris Descartes University.
Papers
More filters
Journal ArticleDOI
Lamin a truncation in hutchinson-gilford progeria
Annachiara De Sandre-Giovannoli,Rafaëlle Bernard,Pierre Cau,Claire Navarro,Jeanne Amiel,Irène Boccaccio,Stanislas Lyonnet,Colin L. Stewart,Arnold Munnich,Martine Le Merrer,Nicolas Lévy +10 more
TL;DR: HGPS is an exceedingly rare but typical progeria, clinically characterized by postnatal growth retardation, midface hypoplasia, micrognathia, premature atherosclerosis, absence of subcutaneous fat, and others.
Journal ArticleDOI
Hirschsprung disease, associated syndromes and genetics: a review
Jeanne Amiel,Stanislas Lyonnet +1 more
TL;DR: Isolated HSCR appears to be a non-Mendelian malformation with low, sex-dependent penetrance, and variable expression according to the length of the aganglionic segment, which stands as a model for genetic disorders with complex patterns of inheritance.
Journal ArticleDOI
Somatic and germline activating mutations of the ALK kinase receptor in neuroblastoma
Isabelle Janoueix-Lerosey,Delphine Lequin,Delphine Lequin,Laurence Brugières,Agnès Ribeiro,Loïc de Pontual,Valérie Combaret,Virginie Raynal,Virginie Raynal,Alain Puisieux,Alain Puisieux,Gudrun Schleiermacher,Gudrun Schleiermacher,Gaëlle Pierron,Dominique Valteau-Couanet,Thierry Frebourg,Jean Michon,Stanislas Lyonnet,Jeanne Amiel,Olivier Delattre,Olivier Delattre +20 more
TL;DR: In this paper, the authors conducted genome-wide comparative genomic hybridization analysis on a large series of neuroblastomas and found that the copy number increase at the locus encoding the anaplastic lymphoma kinase tyrosine kinase receptor was observed recurrently.
Journal ArticleDOI
Polyalanine expansion and frameshift mutations of the paired-like homeobox gene PHOX2B in congenital central hypoventilation syndrome
Jeanne Amiel,Béatrice Laudier,Tania Attié-Bitach,Ha Trang,Loïc de Pontual,Blanca Gener,Delphine Trochet,Heather C. Etchevers,Pierre F. Ray,Michel Simonneau,Michel Vekemans,Arnold Munnich,Claude Gaultier,Stanislas Lyonnet +13 more
TL;DR: An essential role of PHOX2B in the normal patterning of the autonomous ventilation system and, more generally, of the autonomic nervous system in humans is supported.
Journal ArticleDOI
SOX10 mutations in patients with Waardenburg-Hirschsprung disease.
Veronique Pingault,Nadege Bondurand,Kirsten Kuhlbrodt,Derk E. Goerich,Marie Odette Préhu,Aldamaria Puliti,Beate Herbarth,Irm Hermans-Borgmeyer,Eric Legius,Gert Matthijs,Jeanne Amiel,Stanislas Lyonnet,Isabella Ceccherini,Giovanni Romeo,Jill Clayton Smith,Andrew P Read,Michael Wegner,Michel Goossens +17 more
TL;DR: It is shown that patients from four families with WS4 have mutations in SOx10, whereas no mutation could be detected in patients with HSCR alone, and this point to an essential role ofSOx10 in the development of two neural crest-derived human cell lineages.