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.
Papers
More filters
Journal ArticleDOI
Heterogeneity versus variability in megalocornea-mental retardation (MMR) syndromes : report of new cases and delineation of 4 probable types
Alain Verloes,Hubert Journel,Catherine Elmer,Jean-Paul Misson,Martine Le Merrer,Josseline Kaplan,Lionel Van Maldergem,Hilde Deconinck,Françoise Meire +8 more
TL;DR: 4 new cases of megalocornea and mental retardation in unrelated patients have a consistent pattern of anomalies with possible recessive inheritance which clearly differs from that of the original patients of Neuhäuser et al.
Journal ArticleDOI
Large deletions encompassing the TCOF1 and CAMK2A genes are responsible for Treacher Collins syndrome with intellectual disability
Marie Vincent,Corinne Collet,Alain Verloes,Laetitia Lambert,Christian Herlin,Catherine Blanchet,Elodie Sanchez,Séverine Drunat,Jacqueline Vigneron,Jean-Louis Laplanche,Jacques Puechberty,Pierre Sarda,David Geneviève +12 more
TL;DR: The involvement of the other deleted genes such as CAMK2A or SLC6A7 in the cognitive development delay of the patients reported are discussed and the systematic investigation for 5q32 deletion when intellectual disability is associated with Treacher Collins syndrome is proposed.
Journal ArticleDOI
Major decrease in the incidence of trisomy 21 at birth in south Belgium: mass impact of triple test?
Alain Verloes,Yves Gillerot,Lionel Van Maldergem,Schoos R,Christian Herens,Mauricette Jamar,Vinciane Dideberg,Sylviane Lesenfants,Lucien Koulischer +8 more
TL;DR: In South Belgium (Wallonia), the ‘triple test’ was introduced in 1990–1991, and is nowadays a widely accepted screening method for assessment of trisomy 21 risk in pregnancy, and the election of termination for most affected pregnancies.
Journal ArticleDOI
Coloboma, mental retardation, hypogonadism, and obesity: Critical review of the so-called Biemond syndrome type 2, updated nosology, and delineation of three “new” syndromes
TL;DR: Clinical data is presented on three mentally retarded sporadic cases with coloboma, obesity, and hypogenitalism (in two of them), fitting as first glance a diagnosis of BS2.
Journal ArticleDOI
Metaphyseal anadysplasia: A metaphyseal dysplasia of early onset with radiological regression and benign course
TL;DR: Infants whose radiological changes of metaphyseal dysplasia do not fall into one of the well-defined types should be followed and prediction of the adult height should not be made on the basis of the findings on the initial examination.