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
Loss-of-Function Mutations in WDR73 Are Responsible for Microcephaly and Steroid-Resistant Nephrotic Syndrome: Galloway-Mowat Syndrome
Estelle Colin,Evelyne Huynh Cong,Evelyne Huynh Cong,Géraldine Mollet,Géraldine Mollet,Agnès Guichet,Olivier Gribouval,Olivier Gribouval,Christelle Arrondel,Christelle Arrondel,Olivia Boyer,Olivia Boyer,Laurent Daniel,Marie-Claire Gubler,Marie-Claire Gubler,Zelal Ekinci,Michel Tsimaratos,Brigitte Chabrol,Nathalie Boddaert,Alain Verloes,Arnaud Chevrollier,Naïg Gueguen,Valérie Desquiret-Dumas,Marc Ferré,Vincent Procaccio,Laurence Richard,Benoît Funalot,Anne Moncla,Dominique Bonneau,Corinne Antignac,Corinne Antignac +30 more
TL;DR: It is shown that WDR73 was present in the brain and kidney and was located diffusely in the cytoplasm during interphase but relocalized to spindle poles and astral microtubules during mitosis, and plays a crucial role in the maintenance of cell architecture and cell survival.
Journal ArticleDOI
Heterozygous Loss-of-Function Mutations in YAP1 Cause Both Isolated and Syndromic Optic Fissure Closure Defects
Kathleen A. Williamson,Joe Rainger,James A B Floyd,Morad Ansari,Alison M. Meynert,Kishan V. Aldridge,Jacqueline K. Rainger,Carl A. Anderson,Anthony T. Moore,Matthew E. Hurles,Angus John Clarke,Veronica van Heyningen,Alain Verloes,Martin S. Taylor,Andrew O.M. Wilkie,David R. FitzPatrick +15 more
TL;DR: RT-PCR showed that an alternative transcription start site (TSS) in intron 1 of YAP1 and Yap1 is widely used in human and mouse development, respectively, and provides a plausible explanation for the phenotypic differences between the families.
Journal ArticleDOI
Submicroscopic terminal deletions and duplications in retarded patients with unclassified malformation syndromes.
Mariluce Riegel,Alessandra Baumer,Mauricette Jamar,K Delbecque,Christian Herens,Alain Verloes,Albert Schinzel +6 more
TL;DR: An examination of subtelomeric segments should be included in the diagnostic work-up of patients with unexplained mental retardation combined with physical abnormalities, when a careful conventional examination of banded chromosomes has yielded a normal result and a thorough clinical examination does not lead to another classification.
SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome (vol 49, pg 238, 2017)
Natalie D. Shaw,Harrison Brand,Zachary A. Kupchinsky,Hemant Bengani,Lacey Plummer,Takako I. Jones,Serkan Erdin,Kathleen A. Williamson,Joe Rainger,Alexei Stortchevoi,Kaitlin E. Samocha,Benjamin Currall,Donncha S. Dunican,Ryan L. Collins,Willer,Angela Lek,Monkol Lek,Malik Nassan,Shahrin Pereira,Tammy Kammin,Diane Lucente,A Silva,Catarina M. Seabra,Colby Chiang,Yu An,Morad Ansari,Jacqueline K. Rainger,Shelagh Joss,JC Smith,Margaret F. Lippincott,Shilpi Singh,Nirav J. Patel,Jenny Jing,Law,Nalton F. Ferraro,Alain Verloes,Anita Rauch,Katharina Steindl,Markus Zweier,Ianina Scheer,Daisuke Sato,Nobuhiko Okamoto,Christina Jacobsen,Jeanie B. Tryggestad,Steven D. Chernausek,Lisa A. Schimmenti,Benjamin Brasseur,Claudia Cesaretti,José Elías García-Ortiz,Tatiana Pineda Buitrago,Orlando Perez Silva,Jodi D. Hoffman,Wolfgang Mühlbauer,KW Ruprecht,Bart Loeys,Masato Shino,Angela M. Kaindl,C-H Cho,Cynthia C. Morton,Richard R. Meehan,van Heyningen,Eric C. Liao,Ravikumar Balasubramanian,Janet E. Hall,Stephanie B. Seminara,Daniel G. MacArthur,Steven A. Moore,K-I Yoshiura,James F. Gusella,Joseph A. Marsh,John M. Graham,Ae Lin,Nicholas Katsanis,Peter L. Jones,William F. Crowley,Erica E. Davis,FitzPatrick,Michael E. Talkowski +77 more
TL;DR: Mutations in SMCHD1 contribute to distinct phenotypic spectra, from craniofacial malformation and reproductive disorders to muscular dystrophy, which are speculated to be consistent with oligogenic mechanisms resulting in pleiotropic outcomes.
Journal ArticleDOI
Mutation analysis of the MEN1 gene in Belgian patients with multiple endocrine neoplasia type 1 and related diseases.
Jacques Poncin,Roger Abs,Brigitte Velkeniers,Maryse Bonduelle,Marc Abramowicz,Jean-Jacques Legros,Alain Verloes,Michel Meurisse,Luc Van Gaal,Christine Verellen,Lucien Koulischer,Albert Beckers +11 more
TL;DR: This work systematically screened the 10 exons and adjacent sequences of the MEN1 gene by means of an automatic sequencing protocol and identified 12 different mutations including nonsense, frameshift, splicing, and missense mutations, all of which occurred more than once in a sample of 25 Belgian patients.