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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Journal ArticleDOI
The mutation spectrum in RECQL4 diseases.
H. Annika Siitonen,Jenni Sotkasiira,Martine Biervliet,Abdelmadjid Benmansour,Yline Capri,Valérie Cormier-Daire,Barbara F. Crandall,Katariina Hannula-Jouppi,Raoul C.M. Hennekam,Denise Herzog,Kathelijn Keymolen,Marita Lipsanen-Nyman,Peter Miny,Sharon E. Plon,Stefan Riedl,Ajoy Sarkar,Fernando Regla Vargas,Alain Verloes,Lisa L. Wang,Helena Kääriäinen,Marjo Kestilä +20 more
TL;DR: It is reported that RAPADILINO patients identified as carriers of the c.1390+2delT mutation are at increased risk to develop lymphoma or osteosarcoma and 14 novel RECQL4 mutations with accompanying clinical data are provided.
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Many roads lead to primary autosomal recessive microcephaly
Angela M. Kaindl,Sandrine Passemard,Pavan Kumar,Nadine Kraemer,Lina Issa,Angelika Zwirner,Bénédicte Gérard,Alain Verloes,Shyamala Mani,Shyamala Mani,Pierre Gressens +10 more
TL;DR: A timely overview of current knowledge on mechanisms leading to microcephaly in humans with MCPH and abnormalities in cell division/cell survival in corresponding animal models is provided.
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The original Lujan Syndrome Family has a novel missense mutation (p.N1007S) in the MED12 gene
Charles E. Schwartz,Patrick S. Tarpey,Herbert A. Lubs,Alain Verloes,Melanie M. May,Hiba Risheg,Michael J. Friez,P. Andrew Futreal,Sarah Edkins,Jon W. Teague,Sylvain Briault,Cindy Skinner,Astrid Bauer-Carlin,Richard J. Simensen,Sumy M Joseph,Julie R. Jones,Jozef Gecz,Michael R. Stratton,F. Lucy Raymond,Roger E. Stevenson +19 more
TL;DR: It seems that these two X-linked mental retardation syndromes are allelic, with mutations in the MED12 gene.
Journal ArticleDOI
Mutations in the β-Tubulin Gene TUBB5 Cause Microcephaly with Structural Brain Abnormalities
Martin W. Breuss,Julian Ik-Tsen Heng,Karine Poirier,Guoling Tian,Xavier H. Jaglin,Zhengdong Qu,Andreas Braun,Thomas Gstrein,Linh Ngo,Matilda Haas,Nadia Bahi-Buisson,Marie-Laure Moutard,Sandrine Passemard,Sandrine Passemard,Alain Verloes,Alain Verloes,Pierre Gressens,Yunli Xie,Kathryn J. H. Robson,Deepa Selvi Rani,Kumarasamy Thangaraj,Tim Clausen,Jamel Chelly,Nicholas J. Cowan,David A. Keays +24 more
TL;DR: Insight is provided into the functional repertoire of the tubulin gene family, specifically implicating TUBB5 in embryonic neurogenesis and microcephaly, and the occurrence of three microcephalic patients with structural brain abnormalities harboring de novo mutations in Tubb5 is reported.
Journal ArticleDOI
CHARGE and Kabuki Syndromes: Gene-Specific DNA Methylation Signatures Identify Epigenetic Mechanisms Linking These Clinically Overlapping Conditions
Darci T. Butcher,Cheryl Cytrynbaum,Andrei L. Turinsky,Michelle T. Siu,Michal Inbar-Feigenberg,Roberto Mendoza-Londono,David Chitayat,Susan Walker,Jerry Machado,Oana Caluseriu,Lucie Dupuis,Daria Grafodatskaya,William Reardon,Brigitte Gilbert-Dussardier,Alain Verloes,Frédéric Bilan,Jeff M. Milunsky,Raveen K. Basran,Blake C. Papsin,Tracy Stockley,Stephen W. Scherer,Sanaa Choufani,Michael Brudno,Rosanna Weksberg +23 more
TL;DR: Analysis of the DNAm targets in each gene-specific signature identified both common gene targets, including homeobox A5 (HOXA5), which could account for some of the clinical overlap in CHARGE and Kabuki syndromes, as well as distinct gene targets.