P
Pascal Chambon
Researcher at French Institute of Health and Medical Research
Publications - 31
Citations - 409
Pascal Chambon is an academic researcher from French Institute of Health and Medical Research. The author has contributed to research in topics: Gene & Multiplex. The author has an hindex of 10, co-authored 28 publications receiving 314 citations. Previous affiliations of Pascal Chambon include Nancy-Université.
Papers
More filters
Journal ArticleDOI
Clinical phenotype of germline RUNX1 haploinsufficiency: from point mutations to large genomic deletions.
Mylène Béri-Dexheimer,Véronique Latger-Cannard,Christophe Philippe,Céline Bonnet,Pascal Chambon,Virginie Roth,Marie-José Grégoire,Pierre Bordigoni,Thomas Lecompte,Bruno Leheup,Philippe Jonveaux +10 more
TL;DR: Two novel germline RUNX1 mutations are reported on: an out-of-frame 8 bp heterozygous deletion (c.442_449del) in an FPD/AML pedigree and a de novo 3.5 Mb deletion in the 21q22.11.12 region encompassing the RunX1 gene in a mentally retarded female patient with short stature and thrombocytopenia.
Journal ArticleDOI
Autologous Myoblasts for the Treatment of Fecal Incontinence: Results of a Phase 2 Randomized Placebo-controlled Study (MIAS).
Olivier Boyer,Valérie Bridoux,Camille Giverne,Aurélie Bisson,Edith Koning,Anne-Marie Leroi,Pascal Chambon,Justine Déhayes,Stéphanie Le Corre,Serge Jacquot,Dominique Bastit,Jérémie Martinet,Estelle Houivet,Jean-Jacques Tuech,Jacques Benichou,Francis Michot +15 more
TL;DR: Intrasphincteric AM injections in FI patients have shown tolerance, safety, and clinical benefit at 12 months despite a transient placebo effect at 6 months.
Journal ArticleDOI
A de novo microdeletion of SEMA5A in a boy with autism spectrum disorder and intellectual disability
Anne-Laure Mosca-Boidron,Lucie Gueneau,Guillaume Huguet,Alice Goldenberg,C. Henry,Nadège Gigot,Emilie Pallesi-Pocachard,Antonio Falace,Laurence Duplomb,Julien Thevenon,Yannis Duffourd,Judith St-Onge,Pascal Chambon,Jean-Baptiste Rivière,Christel Thauvin-Robinet,Patrick Callier,Nathalie Marle,Muriel Payet,Clémence Ragon,Hany Goubran Botros,Julien Buratti,Sophie Calderari,Guillaume Dumas,Richard Delorme,Nathalie Lagarde,Jean-Michel Pinoit,Antoine Rosier,Alice Masurel-Paulet,Carlos Cardoso,Francine Mugneret,Pascale Saugier-Veber,Dominique Campion,Laurence Faivre,Thomas Bourgeron +33 more
TL;DR: This study alone cannot formally associate SEMA5A with susceptibility to ASD, but it provides additional evidence that Semaphorin dysfunction could lead to ASD and ID.
Journal ArticleDOI
Metabolic causes of nonimmune hydrops fetalis: A next-generation sequencing panel as a first-line investigation.
Bénédicte Sudrié-Arnaud,Florent Marguet,Sophie Patrier,Jelena Martinovic,Ferielle Louillet,Françoise Broux,Françoise Charbonnier,Hélène Dranguet,Sophie Coutant,Myriam Vezain,Raphaël Lanos,Abdellah Tebani,Maria Fuller,Foudil Lamari,Pascal Chambon,Anne-Claire Brehin,Laetitia Trestard,Isabelle Tournier,Stéphane Marret,Eric Verspyck,Annie Laquerrière,Soumeya Bekri +21 more
TL;DR: A next-generation sequencing (NGS) panel is developed to investigate metabolic causes of NIHF, ascites, and polyhydramnios associated to another fetal abnormality and allows a significant improvement of IEM diagnosis in NIHF.
Journal ArticleDOI
Molecular characterization of 39 de novo sSMC: contribution to prognosis and genetic counselling, a prospective study
Nathalie Marle,Danielle Martinet,Azzedine Aboura,Géraldine Joly-Helas,Joris Andrieux,Elisabeth Flori,Jacques Puechberty,François Vialard,Damien Sanlaville,S. Fert Ferrer,G. Bourrouillou,Anne-Claude Tabet,B. Quilichini,Brigitte Simon-Bouy,Anne Bazin,M. Becker,H. Stora,S. Amblard,Martine Doco-Fenzy,D. Molina Gomes,F. Girard-Lemaire,Marie-Pierre Cordier,Véronique Satre,Anouck Schneider,N. Lemeur,Pascal Chambon,Sébastien Jacquemont,Florence Fellmann,A. Vigouroux-Castera,R. Molignier,A. Delaye,Eva Pipiras,A. Liquier,Thierry Rousseau,A. L. Mosca,V. Kremer,Muriel Payet,C. Rangon,F. Mugneret,Serge Aho,Laurence Faivre,Patrick Callier +41 more
TL;DR: In this paper, the presence or absence of euchromatin material of 39 de novo prenatally ascertained small supernumerary marker chromosomes (sSMCs) was determined by array-comparative genomic hybridization (array-CGH) or single nucleotide polymorphism (SNP) array.