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Alain Verloes
Researcher at University of Paris
Publications - 464
Citations - 21574
Alain Verloes is an academic researcher from University of Paris. The author has contributed to research in topics: Microcephaly & Noonan syndrome. The author has an hindex of 73, co-authored 450 publications receiving 19231 citations. Previous affiliations of Alain Verloes include Institut Universitaire de France & Max Planck Society.
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Journal ArticleDOI
Familial CHARGE syndrome because of CHD7 mutation: clinical intra- and interfamilial variability
André Delahaye,Yves Sznajer,Stanislas Lyonnet,Monique Elmaleh-Bergès,Isabelle Delpierre,Sophie Audollent,Sylvette Wiener-Vacher,Anne-Laure Mansbach,Jeanne Amiel,Clarisse Baumann,Dominique Bremond-Gignac,Tania Attié-Bitach,Alain Verloes,Damien Sanlaville +13 more
TL;DR: The intrafamilial variability of CHARGE syndrome is described, and the presence of CHD7 mutations in patients who do not fit the ‘classical clinical criteria’ for CHARGE Syndrome is underline.
Journal ArticleDOI
Tricho-hepato-enteric syndrome: further delineation of a distinct syndrome with neonatal hemochromatosis phenotype, intractable diarrhea, and hair anomalies.
Alain Verloes,Jacques Lombet,Yves Lambert,Anne-Frédérique Hubert,Manuel Deprez,Viviana Fridman,Serge Gosseye,Jacques Rigo,Etienne Sokal +8 more
TL;DR: The unusual course for neonatal hemochromatosis in both sibs combined with concordant extrahepatic anomalies suggest that they could have a specific iron storage syndrome with possible autosomal recessive inheritance, probably similar to the sibship reported by Stanckler et al.
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Phenotypic Spectrum of Simpson–Golabi–Behmel Syndrome in a Series of 42 Cases With a Mutation in GPC3 and Review of the Literature
Edouard Cottereau,Isabelle Mortemousque,Marie-Pierre Moizard,Lydie Burglen,Didier Lacombe,Brigitte Gilbert-Dussardier,Sabine Sigaudy,Odile Boute,Albert David,Laurence Faivre,Jeanne Amiel,Robert Robertson,Fabiana Viana Ramos,Eric Bieth,Sylvie Odent,Bénédicte Demeer,Michèle Mathieu,Dominique Gaillard,Lionel Van Maldergem,Geneviève Baujat,Isabelle Maystadt,Delphine Héron,Alain Verloes,Nicole Philip,Valérie Cormier-Daire,Marie-Françoise Frouté,Lucile Pinson,Patricia Blanchet,Pierre Sarda,Marjolaine Willems,Adeline Jacquinet,Ilham Ratbi,Jenneke van den Ende,Marylin Lackmy‐Port Lis,Alice Goldenberg,Dominique Bonneau,Sylvie Rossignol,Annick Toutain +37 more
TL;DR: The clinical features of all male cases with a GPC3 mutation identified in the two molecular laboratories providing this test in France (Tours and Paris) are reviewed to better delineate the phenotypic spectrum of SGBS caused by GPC4 mutations.
Journal ArticleDOI
Molecular diagnosis of PIK3CA-related overgrowth spectrum (PROS) in 162 patients and recommendations for genetic testing
Paul Kuentz,Judith St-Onge,Judith St-Onge,Yannis Duffourd,Jean-Benoît Courcet,Virginie Carmignac,Thibaud Jouan,Arthur Sorlin,Claire Abasq-Thomas,Juliette Albuisson,Jeanne Amiel,Daniel Amram,Stéphanie Arpin,Tania Attié-Bitach,Nadia Bahi-Buisson,Sébastien Barbarot,Geneviève Baujat,Didier Bessis,Olivia Boccara,Maryse Bonnière,Odile Boute,Anne-Claire Bursztejn,Christine Chiaverini,Valérie Cormier-Daire,Christine Coubes,Bruno Delobel,Patrick Edery,Salima El Chehadeh,Christine Francannet,David Geneviève,Alice Goldenberg,Damien Haye,Bertrand Isidor,Marie-Line Jacquemont,Philippe Khau Van Kien,Didier Lacombe,Ludovic Martin,Jelena Martinovic,Annabel Maruani,Michèle Mathieu-Dramard,Juliette Mazereeuw-Hautier,Caroline Michot,Cyril Mignot,J. Miquel,Fanny Morice-Picard,Florence Petit,A. Phan,Massimiliano Rossi,Renaud Touraine,Alain Verloes,Marie Vincent,Catherine Vincent-Delorme,Sandra Whalen,Marjolaine Willems,Nathalie Marle,Daphné Lehalle,Julien Thevenon,Christel Thauvin-Robinet,Smail Hadj-Rabia,Laurence Faivre,Pierre Vabres,Jean-Baptiste Rivière +61 more
TL;DR: The data demonstrate the value of ultradeep NGS for molecular diagnosis of PROS, highlight its substantial allelic heterogeneity, and confirm that optimal diagnosis requires fresh skin or surgical samples from affected regions.
Journal ArticleDOI
Further delineation of a syndrome of cerebellar vermis hypo/aplasia, oligophrenia, congenital ataxia, coloboma, and hepatic fibrosis.
TL;DR: Three children are described from two sibships and the acronym COACH (Cerebellar vermis hypo/aplasia, Oligophrenia, congenital Ataxia, Coloboma, Hepatic fibrocirrhosis) is suggested.