Thierry Bienvenu

Overview

Best Publications

• Duplication of the MECP2 region is a frequent cause of severe mental retardation and progressive neurological symptoms in males.

  Hilde Van Esch;Marijke Bauters;Jaakko Ignatius;Mieke Jansen

  696
  Citations

• Oligophrenin-1 encodes a rhoGAP protein involved in X-linked mental retardation

  P Billuart;T Bienvenu;N Ronce;des Portes

  609
  Citations

• A new member of the IL-1 receptor family highly expressed in hippocampus and involved in X-linked mental retardation

  A. Carrie;L. Jun;T. Bienvenu;M.C. Vinet

  416
  Citations

• Mutations in GDI1 are responsible for X-linked non-specific mental retardation

  P D'Adamo;A Menegon;C Lo Nigro;M Grasso

  410
  Citations

• Molecular genetics of Rett syndrome: when DNA methylation goes unrecognized

  Thierry Bienvenu;Jamel Chelly

  382
  Citations

• MECP2 mutations account for most cases of typical forms of Rett syndrome

  Thierry Bienvenu;Alain Carrié;Nicolas de Roux;Marie-Claude Vinet

  359
  Citations

• ARX, a novel Prd-class-homeobox gene highly expressed in the telencephalon, is mutated in X-linked mental retardation

  Thierry Bienvenu;Karine Poirier;Gaelle Friocourt;Nadia Bahi

  349
  Citations

• Key clinical features to identify girls with CDKL5 mutations

  Nadia Bahi-Buisson;Juliette Nectoux;Juliette Nectoux;Haydeé Rosas-Vargas;Haydeé Rosas-Vargas;Mathieu Milh

  346
  Citations

• Genetics and pathophysiology of mental retardation.

  Jamel Chelly;Malik Khelfaoui;Fiona Francis;Beldjord Chérif

  340
  Citations

• MECP2 is highly mutated in X-linked mental retardation

  P Couvert;T Bienvenu;C Aquaviva;K Poirier

  330
  Citations

• Spectrum of CFTR mutations in cystic fibrosis and in congenital absence of the vas deferens in France.

  Mireille Claustres;Caroline Guittard;Dominique Bozon;Françoise Chevalier

  289
  Citations

• A new gene involved in X-linked mental retardation identified by analysis of an X;2 balanced translocation

  R Zemni;T Bienvenu;M C Vinet;A Sefiani

  287
  Citations

• Pancreas Divisum Is Not a Cause of Pancreatitis by Itself But Acts as a Partner of Genetic Mutations

  Caroline Bertin;Anne-Laure Pelletier;Marie Pierre Vullierme;Thierry Bienvenu

  270
  Citations

• Large spectrum of lissencephaly and pachygyria phenotypes resulting from de novo missense mutations in tubulin alpha 1A (TUBA1A).

  Karine Poirier;Karine Poirier;David A. Keays;Fiona Francis;Fiona Francis;Yoann Saillour;Yoann Saillour

  264
  Citations

• The enlarging clinical, genetic, and population spectrum of tumor necrosis factor receptor-associated periodic syndrome.

  Catherine Dodé;Marc André;Thierry Bienvenu;Pierre Hausfater

  255
  Citations

• Evaluation of DNA Methylation Episignatures for Diagnosis and Phenotype Correlations in 42 Mendelian Neurodevelopmental Disorders

  Erfan Aref-Eshghi;Jennifer Kerkhof;Victor P. Pedro

  225
  Citations

• The three stages of epilepsy in patients with CDKL5 mutations.

  Nadia Bahi-Buisson;Nadia Bahi-Buisson;Anna Kaminska;Anna Kaminska;Nathalie Boddaert;Nathalie Boddaert;Marlène Rio

  220
  Citations

• Brain-derived neurotrophic factor, food intake regulation, and obesity.

  Haydeé Rosas-Vargas;José Darío Martínez-Ezquerro;Thierry Bienvenu

  207
  Citations

• Missense mutation in PAK3, R67C, causes X-linked nonspecific mental retardation.

  T. Bienvenu;V. des Portes;N. McDonell;A. Carrie

  159
  Citations

• Parental origin of de novo MECP2 mutations in Rett syndrome.

  Muriel Girard;Philippe Couvert;Alain Carrié;Marc Tardieu

  151
  Citations