L
Loïc de Pontual
Researcher at University of Paris
Publications - 88
Citations - 4950
Loïc de Pontual is an academic researcher from University of Paris. The author has contributed to research in topics: Medicine & Internal medicine. The author has an hindex of 30, co-authored 75 publications receiving 4231 citations. Previous affiliations of Loïc de Pontual include Paris Descartes University & Farwaniya Hospital.
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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
Germline mutations of the paired-like homeobox 2B (PHOX2B) gene in neuroblastoma.
Delphine Trochet,Franck Bourdeaut,Isabelle Janoueix-Lerosey,Anne Deville,Loïc de Pontual,Gudrun Schleiermacher,Carole Coze,Nicole Philip,Thierry Frebourg,Arnold Munnich,Stanislas Lyonnet,Olivier Delattre,Jeanne Amiel +12 more
TL;DR: PHOX2B stands as the first gene for which germline mutations predispose to neuroblastoma, in both a familial case of NB and a patient with the HSCR-NB association.
Journal ArticleDOI
Mutations in TCF4, Encoding a Class I Basic Helix-Loop-Helix Transcription Factor, Are Responsible for Pitt-Hopkins Syndrome, a Severe Epileptic Encephalopathy Associated with Autonomic Dysfunction
Jeanne Amiel,Marlène Rio,Loïc de Pontual,Richard Redon,Valérie Malan,Nathalie Boddaert,Perrine Plouin,Nigel P. Carter,Stanislas Lyonnet,Arnold Munnich,Laurence Colleaux +10 more
TL;DR: These findings demonstrate that TCF4 anomalies are responsible for PHS and provide the first evidence of a human disorder related to class I basic helix-loop-helix transcription-factor defects (also known as "E proteins").
Journal ArticleDOI
Germline deletion of the miR-17 ∼ 92 cluster causes skeletal and growth defects in humans
Loïc de Pontual,Loïc de Pontual,Evelyn Yao,Patrick Callier,Laurence Faivre,Valérie Drouin,Sandra Cariou,Arie van Haeringen,David Geneviève,Alice Goldenberg,Myriam Oufadem,Sylvie Manouvrier,Arnold Munnich,Arnold Munnich,Joana A. Vidigal,Michel Vekemans,Stanislas Lyonnet,Stanislas Lyonnet,Alexandra Henrion-Caude,Andrea Ventura,Jeanne Amiel,Jeanne Amiel +21 more
TL;DR: These findings identify a regulatory function for miR-17∼92 in growth and skeletal development and represent the first example of an miRNA gene responsible for a syndromic developmental defect in humans.