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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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Proceedings Article
CEMARA: a Web dynamic application within a N-tier architecture for rare diseases.
Claude Messiaen,Loïc Le Mignot,Ana Rath,Jean-Baptiste Richard,Eric Dufour,Mohamed Ben Saïd,Jean-Philippe Jais,Alain Verloes,Martine Le Merrer,Christine Bodemer,Geneviève Baujat,Marion Gérard-Blanluet,E. Bourdon-Lanoy,Rémi Salomon,S Aymé,Paul Landais +15 more
TL;DR: The main objective of CEMARA is to contribute to the missions of the RC regarding the registration and description of their activities, coordination of the network of their correspondents, organization of the follow-up of rare diseases, and analysis of the epidemiological patterns.
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The development of a clinical screening instrument for tumour predisposition syndromes in childhood cancer patients
Saskia M. J. Hopman,Johannes H. M. Merks,Corianne A. J. M. de Borgie,Cora M. Aalfs,Leslie G. Biesecker,Trevor Cole,Charis Eng,Eric Legius,Eamonn R. Maher,Max M. van Noesel,Alain Verloes,Alain Verloes,David Viskochil,Anja Wagner,Rosanna Weksberg,Huib N. Caron,Raoul C.M. Hennekam +16 more
TL;DR: The Delphi process performed by international specialists with a function as opinion leaders in their field of expertise, has led to a screening instrument for childhood cancer patients and patients who may have a tumour predisposition syndrome can be identified using the screening instrument.
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Report of the first patient with a homozygous OTUD7A variant responsible for epileptic encephalopathy and related proteasome dysfunction.
Philippine Garret,Frédéric Ebstein,Geoffroy Delplancq,Blandine Dozières-Puyravel,Aïcha Boughalem,Stéphane Auvin,Yannis Duffourd,Sandro Klafack,Barbara A. Zieba,Sana Mahmoudi,Karun K. Singh,Laurence Duplomb,Christel Thauvin-Robinet,Jean-Marc Costa,Elke Krüger,Detlef Trost,Alain Verloes,Laurence Faivre,Antonio Vitobello +18 more
TL;DR: Evidence is provided that biallelic pathogenic OTUD7A variation is linked to early‐onset epileptic encephalopathy and proteasome dysfunction and evidence that CHRNA7, the candidate gene for this syndrome, is considered the critical gene responsible for brain dysfunction.
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Beckwith-Wiedemann syndrome and long QT syndrome due to familial-balanced translocation t(11;17)(p15.5;q21.3) involving the KCNQ1 gene.
Sophie Kaltenbach,Yline Capri,Sylvie Rossignol,I Denjoy,S Soudée,Azzedine Aboura,Clarisse Baumann,Alain Verloes,Alain Verloes +8 more
TL;DR: This appears to be the first report of BWS with congenital LQTS, which should be considered as a rare but serious complication to be searched systematically in patients with BWS due to 11p15 rearrangements.
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Lambotte syndrome: microcephaly, holoprosencephaly, intrauterine growth retardation, facial anomalies, and early lethality--a new sublethal multiple congenital anomaly/mental retardation syndrome in four sibs.
TL;DR: An Arabic sibship originating from Morocco in which four children manifest an undiagnosed sublethal multiple congenital anomaly/mental retardation (MCA/MR), microcephaly, large soft pinnae, telecanthus or true hypertelorism with squint, flat face, unusual hooked nose, very narrow mouth, retrognathia, and extremely severe neurologic impairment is reported.