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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.
Papers
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Journal ArticleDOI
Nephrocalcinosis (Enamel Renal Syndrome) Caused by Autosomal Recessive FAM20A Mutations
Graciana Jaureguiberry,Muriel De La Dure-Molla,David A. Parry,Mickael Quentric,Nina Himmerkus,Toshiyasu Koike,James A. Poulter,Enriko Klootwijk,Steven L. Robinette,Alexander J. Howie,Vaksha Patel,Marie Lucile Figueres,Horia Stanescu,Naomi Issler,Jeremy K. Nicholson,Detlef Bockenhauer,Chris Laing,Stephen B. Walsh,David A. McCredie,Sue Povey,Audrey Asselin,Arnaud Picard,Aurore Coulomb,Alan Medlar,Isabelle Bailleul-Forestier,Alain Verloes,Cédric Le Caignec,Gwenaelle Roussey,Julien Guiol,Bertrand Isidor,Clare V. Logan,Roger C. Shore,Colin A. Johnson,Chris F. Inglehearn,Suhaila Al-Bahlani,Matthieu Schmittbuhl,François Clauss,Mathilde Huckert,Virginie Laugel,Emmanuelle Ginglinger,Sandra Pajarola,Giuseppina Spartà,Deborah Bartholdi,Anita Rauch,Marie-Claude Addor,Paulo Marcio Yamaguti,H.P.N. Safatle,Ana Carolina Acevedo,Hercílio Martelli-Júnior,Pedro E. Dos Santos Netos,Ricardo D. Coletta,Sandra Gruessel,Carolin Sandmann,Denise Ruehmann,Craig B. Langman,Steven J. Scheinman,Didem Ozdemir-Ozenen,Thomas C. Hart,P. Suzanne Hart,Ute Neugebauer,Eberhard Schlatter,Pascal Houillier,William A. Gahl,Miikka Vikkula,Agnès Bloch-Zupan,Markus Bleich,Hiroshi Kitagawa,Robert J. Unwin,Alan J. Mighell,Ariane Berdal,Robert Kleta +70 more
TL;DR: This au-tosomal recessive disorder, also known as enamel renal syndrome, of FAM20A causes nephrocalcinosis and amelogenesis imperfecta and it is speculated that all individuals with biallelic FAM 20A mutations will eventually show neph reciprocalcinosis.
Journal ArticleDOI
Haploinsufficiency of SOX5 at 12p12.1 is associated with developmental delays with prominent language delay, behavior problems, and mild dysmorphic features.
Allen N. Lamb,Jill A. Rosenfeld,Nicholas J. Neill,Michael E. Talkowski,Michael E. Talkowski,Ian Blumenthal,Santhosh Girirajan,Debra J Keelean-Fuller,Zheng Fan,Jill Pouncey,Cathy A. Stevens,Loren Mackay-Loder,Deborah Terespolsky,Patricia I. Bader,Kenneth N. Rosenbaum,Stephanie E. Vallee,John B. Moeschler,Roger L. Ladda,Susan Sell,Judith A. Martin,Shawnia Ryan,Marilyn C. Jones,Rocio Moran,Amy Shealy,Suneeta Madan-Khetarpal,Juliann Mcconnell,Urvashi Surti,Andrée Delahaye,Bénédicte Héron‐Longe,Eva Pipiras,Brigitte Benzacken,Sandrine Passemard,Alain Verloes,Bertrand Isidor,Cédric Le Caignec,Gwen M. Glew,Kent E. Opheim,Maria Descartes,Evan E. Eichler,Cynthia C. Morton,Cynthia C. Morton,James F. Gusella,James F. Gusella,Roger A. Schultz,Blake C. Ballif,Lisa G. Shaffer +45 more
TL;DR: Based on the location of the deletions in the subjects compared to the controls, the de novo nature of most of these deletions, and the phenotypic similarities among cases, SOX5 appears to be a dosage‐sensitive, developmentally important gene.
Book ChapterDOI
Chapter 13 – Microcephaly
TL;DR: True microcephaly (head circumference ≤ – 3 SD) results from an imbalance between progenitor cell production and cell death that lead to a reduced number of neuronal and glial cells within the brain, resulting in reduced brain growth.
Journal ArticleDOI
Autism, language delay and mental retardation in a patient with 7q11 duplication
Christel Depienne,Delphine Héron,Catalina Betancur,Baya Benyahia,Oriane Trouillard,Delphine Bouteiller,Alain Verloes,Eric LeGuern,Marion Leboyer,Alexis Brice +9 more
TL;DR: The first patient with autistic disorder and a WBCR duplication is reported, indicating that the 7q11.23 duplication could be involved in complex clinical phenotypes, ranging from developmental or language delay to mental retardation and autism, and extends the phenotype initially reported.
Journal ArticleDOI
The genetic basis of inherited anomalies of the teeth. Part 2: Syndromes with significant dental involvement
Isabelle Bailleul-Forestier,Ariane Berdal,Frans Vinckier,Thomy de Ravel,Jean Pierre Fryns,Alain Verloes +5 more
TL;DR: The dental anomalies in several multiple congenital anomaly (MCA) syndromes, in which the dental component is pivotal in the recognition of the phenotype and/or the molecular basis of the disorder is known, are reviewed.