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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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Incomplete penetrance of biallelic ALDH1A3 mutations.
Julie Plaisancié,Dominique Bremond-Gignac,Bénédicte Demeer,V. Gaston,Alain Verloes,Lucas Fares-Taie,Sylvie Gerber,Jean-Michel Rozet,Patrick Calvas,Nicolas Chassaing +9 more
TL;DR: The lack of ocular defect in a girl carrying the same homozygous mutation in the ALDH1A3 gene than the affected members of her family is reported, bringing new information for the phenotype-genotype correlation of ALDH 1A3 mutations and raises important questions, especially in terms of genetic counselling given to the patients and their families.
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Heterogeneity of SPONASTRIME dysplasia: delineation of a variant form with severe mental retardation
TL;DR: It is provisionally proposed to split SPONASTRIME dysplasia in two phenotypically distinct subgroups, and to delineate here a “new‘ variant with microcephaly and severe mental impairment.
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Microphthalmia, facial anomalies, microcephaly, thumb and hallux hypoplasia, and agammaglobulinemia.
TL;DR: A boy, born to consanguineous patients, with agammaglobulinemia associated with multiple physical anomalies is reported, which could represent a novel, autosomal recessive syndrome.
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Clinical utility gene card for: CHARGE syndrome
TL;DR: European Journal of Human Genetics (2011) 19, doi:10.1038/ejhg.2011.45; published online 16 March 20111.
Journal Article
Syndromal hypothalamic hamartoblastoma with holoprosencephaly sequence, microphthalmia, pulmonary malformations, radial hypoplasia and müllerian regression: further delineation of a new syndrome?
TL;DR: A 24-week-old fetus with holoprosencephaly sequence (arhinencephaly and agenesis of the corpus callosum) associated with brain and meningeal dysplasia, microphthalmia with an ectopic pigmentary layer, hypothalamic hamartoblastoma, preaxial asymmetric limb reduction, lung hypoplasia, gastric hypopasia, Mullerian regression, intestinal malrotation, asplenia, and normal chromosomes as mentioned in this paper.