A
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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Molecular cytogenetic characterization of terminal 14q32 deletions in two children with an abnormal phenotype and corpus callosum hypoplasia
Anouck Schneider,Brigitte Benzacken,Agnès Guichet,Alain Verloes,Dominique Bonneau,Nathalie Collot,Florence Dastot-Le-Moal,Michel Goossens,Laurence Taine,Emilie Landais,Dominique Gaillard,Martine Doco-Fenzy +11 more
TL;DR: Two patients with terminal deletion of the long arm of chromosome 14, del(14)(q32), diagnosed by subtelomere screening, had a thick nuchal skinfold and postnatal phenotype that included large forehead, narrow palpebral fissures, epicanthic folds, upturned tip of the nose, narrow mouth and thin upper lip.
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Genetic aspects of abdominal aortic aneurysm.
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ARID1B mutations are the major genetic cause of corpus callosum anomalies in patients with intellectual disability.
Cyril Mignot,Marie-Laure Moutard,Agnès Rastetter,Lucile Boutaud,Lucile Boutaud,Solveig Heide,Thierry Billette,Diane Doummar,Catherine Garel,Alexandra Afenjar,Aurélia Jacquette,Didier Lacombe,Alain Verloes,Christine Bole-Feysot,Patrick Nitschké,Cécile Masson,Anne Faudet,Fabien Lesne,Thierry Bienvenu,Caroline Alby,Caroline Alby,Tania Attié-Bitach,Tania Attié-Bitach,Christel Depienne,Caroline Nava,Delphine Héron +25 more
TL;DR: Given the extreme genetic heterogeneity of intellectual disability and the number of genes involved in the formation of the corpus callosum in humans, it is not surprising that genetic causes of syndromes associating AgCC and intellectual disability are so numerous, but the prevalence of each of these genetic anomalies in individuals with this association is currently unknown.
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WDR81 mutations cause extreme microcephaly and impair mitotic progression in human fibroblasts and Drosophila neural stem cells.
Mara Cavallin,Mara Cavallin,Maria A. Rujano,Maria A. Rujano,Nathalie Bednarek,Daniel Medina-Cano,Daniel Medina-Cano,Antoinette Gelot,Séverine Drunat,Camille Maillard,Camille Maillard,Meriem Garfa-Traore,Christine Bole,Patrick Nitschké,Claire Beneteau,Thomas Besnard,Benjamin Cogné,Marion Eveillard,Alice Kuster,Karine Poirier,Karine Poirier,Alain Verloes,Alain Verloes,Jelena Martinovic,Laurent Bidat,Marlène Rio,Stanislas Lyonnet,Stanislas Lyonnet,M Louise Reilly,M Louise Reilly,M Louise Reilly,Nathalie Boddaert,Melanie Jenneson-Liver,Jacques Motte,Martine Doco-Fenzy,Jamel Chelly,Tania Attié-Bitach,Tania Attié-Bitach,Matias Simons,Matias Simons,Vincent Cantagrel,Vincent Cantagrel,Sandrine Passemard,Sandrine Passemard,Alexandre D Baffet,Sophie Thomas,Sophie Thomas,Nadia Bahi-Buisson,Nadia Bahi-Buisson +48 more
TL;DR: The broad phenotypic spectrum of WDR81-related brain malformations, which include microcephaly with moderate to extremely reduced gyration and cerebellar anomalies, are highlighted, suggesting that WDR 81 might have a role in mitosis that is conserved between Drosophila and humans.
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BBBG syndrome or Opitz syndrome: new family.
TL;DR: The name BBBG syndrome is proposed for the amalgamated syndrome, where the propositus had G syndrome, including laryngeal cleft, and another relative had the facial anomalies typical of the BBB syndrome.