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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GOMBO syndrome of growth retardation, ocular abnormalities, microcephaly, brachydactyly, and oligophrenia: a possible "new" recessively inherited MCA/MR syndrome.
Journal Article
Ocular manifestations in Delleman syndrome (Oculocerebrocutaneous syndrome, OCC-syndrome) and encephalocraniocutaneous lipomatosis (ECCL). Report of three cases.
TL;DR: Two boys with Delleman syndrome showed characteristic dysmorphic features with cerebral, ocular and skin malformations and one in with possible ECCL syndrome had limbal lypodermoids, ectopia pupillae and aberrant iris tissue in the right eye.
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Aphallia, Lung Agenesis and Multiple Defects of Blastogenesis
Marion Gérard-Blanluet,Véronique Lambert,Suonavy Khung-Savatovsky,Laurence Perrin-Sabourin,Sandrine Passemard,Clarisse Baumann,Anne-Lise Delezoide,Alain Verloes +7 more
TL;DR: The multiple mesodermal anomalies present in this male fetus, with a severe form of Uro-Rectal-Septum Malformation Sequence associated with unilateral lung agenesis, and rib segmentation anomaly is consistent with an extended defect of blastogenesis.
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VPS51 biallelic variants cause microcephaly with brain malformations: A confirmatory report.
Annette Uwineza,Jean-Hubert Caberg,Janvier Hitayezu,Stephane Wenric,Leon Mutesa,Yoann Vial,Séverine Drunat,Sandrine Passemard,Alain Verloes,Vincent El Ghouzzi,Vincent Bours +10 more
TL;DR: A homozygous intragenic deletion in VPS51 is revealed, which encodes the vacuolar protein sorting-associated protein, one the four subunits of the Golgi-associated retrograde protein (GARP) and endosome-associated recycling protein (EARP) complexes that promotes the fusion of endosomal vesicles with the trans-Golgi network and recycling endosomes.
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A Long-term Competent Chimeric Immune System in a Dizygotic Dichorionic Twin
Valérie Biran,Marie Bornes,Azzedine Aboura,Sonia Masmoudi,Séverine Drunat,Clarisse Baumann,Sara Osimani,Jean-Hugues Dalle,Ghislaine Sterkers,Alain Verloes,C. Farnoux,L. Maury,Thomas Schmitz,Suonavy Khung,Olivier Baud +14 more
TL;DR: Genetic, phenotypic, and immunologic analyses at 2 years revealed chimeric lymphoid and myeloid cells in the surviving twin, although no tissue mosaicism was detected, which indicates that early transfusion led to mutual immune tolerance.