Literature DB >> 12376949

Re-evaluation of MRX36 family after discovery of an ARX gene mutation reveals mild neurological features of Partington syndrome.

Suzanna G M Frints, Guy Froyen, Peter Marynen, Diane Willekens, Eric Legius, Jean-Pierre Fryns.   

Abstract

Entities:  

Mesh：

Substances：

Year:  2002        PMID： 12376949     DOI： 10.1002/ajmg.10628

Source DB:  PubMed          Journal:  Am J Med Genet        ISSN： 0148-7299


× No keyword cloud information.
  8 in total

1.  Screening of ARX in mental retardation families: Consequences for the strategy of molecular diagnosis.

Authors:  K Poirier; D Lacombe; B Gilbert-Dussardier; M Raynaud; V Desportes; A P M de Brouwer; C Moraine; J P Fryns; H H Ropers; C Beldjord; J Chelly; T Bienvenu
Journal:  Neurogenetics       Date:  2005-10-19       Impact factor: 2.660

Review 2.  Fragile X and X-linked intellectual disability: four decades of discovery.

Authors:  Herbert A Lubs; Roger E Stevenson; Charles E Schwartz
Journal:  Am J Hum Genet       Date:  2012-04-06       Impact factor: 11.025

3.  Mutations of CDKL5 cause a severe neurodevelopmental disorder with infantile spasms and mental retardation.

Authors:  Linda S Weaving; John Christodoulou; Sarah L Williamson; Kathie L Friend; Olivia L D McKenzie; Hayley Archer; Julie Evans; Angus Clarke; Gregory J Pelka; Patrick P L Tam; Catherine Watson; Hooshang Lahooti; Carolyn J Ellaway; Bruce Bennetts; Helen Leonard; Jozef Gécz
Journal:  Am J Hum Genet       Date:  2004-10-18       Impact factor: 11.025

4.  Mutations in ARX Result in Several Defects Involving GABAergic Neurons.

Authors:  Gaëlle Friocourt; John G Parnavelas
Journal:  Front Cell Neurosci       Date:  2010-03-11       Impact factor: 5.505

5.  Identification of Arx transcriptional targets in the developing basal forebrain.

Authors:  Carl T Fulp; Ginam Cho; Eric D Marsh; Ilya M Nasrallah; Patricia A Labosky; Jeffrey A Golden
Journal:  Hum Mol Genet       Date:  2008-09-16       Impact factor: 6.150

6.  XLMR in MRX families 29, 32, 33 and 38 results from the dup24 mutation in the ARX (Aristaless related homeobox) gene.

Authors:  Monica L Stepp; A Lauren Cason; Merran Finnis; Marie Mangelsdorf; Elke Holinski-Feder; David Macgregor; Andrée MacMillan; Jeanette J A Holden; Jozef Gecz; Roger E Stevenson; Charles E Schwartz
Journal:  BMC Med Genet       Date:  2005-04-25       Impact factor: 2.103

7.  The c.429_452 duplication of the ARX gene: a unique developmental-model of limb kinetic apraxia.

Authors:  Aurore Curie; Tatjana Nazir; Amandine Brun; Yves Paulignan; Anne Reboul; Karine Delange; Anne Cheylus; Sophie Bertrand; Fanny Rochefort; Gérald Bussy; Stéphanie Marignier; Didier Lacombe; Catherine Chiron; Mireille Cossée; Bruno Leheup; Christophe Philippe; Vincent Laugel; Anne De Saint Martin; Silvia Sacco; Karine Poirier; Thierry Bienvenu; Isabelle Souville; Brigitte Gilbert-Dussardier; Eric Bieth; Didier Kauffmann; Philippe Briot; Bénédicte de Fréminville; Fabienne Prieur; Michel Till; Caroline Rooryck-Thambo; Isabelle Mortemousque; Isabelle Bobillier-Chaumont; Annick Toutain; Renaud Touraine; Damien Sanlaville; Jamel Chelly; Sonya Freeman; Jian Kong; Nouchine Hadjikhani; Randy L Gollub; Alice Roy; Vincent des Portes
Journal:  Orphanet J Rare Dis       Date:  2014-02-14       Impact factor: 4.123

8.  MRX87 family with Aristaless X dup24bp mutation and implication for polyAlanine expansions.

Authors:  Carmela Laperuta; Letizia Spizzichino; Pio D'Adamo; Jlenia Monfregola; Antonio Maiorino; Angela D'Eustacchio; Valerio Ventruto; Giovanni Neri; Michele D'Urso; Pietro Chiurazzi; Matilde Valeria Ursini; Maria Giuseppina Miano
Journal:  BMC Med Genet       Date:  2007-05-04       Impact factor: 2.103
  8 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.