Literature DB >> 15151512

ARX mutation in a boy with transsphenoidal encephalocele and hypopituitarism.

H Van Esch, K Poirier, F de Zegher, M Holvoet, T Bienvenu, J Chelly, K Devriendt, J-P Fryns.   

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Year:  2004        PMID： 15151512     DOI： 10.1111/j.1399-0004.2004.00256.x

Source DB:  PubMed          Journal:  Clin Genet        ISSN： 0009-9163            Impact factor:   4.438


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  7 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.  Genetics, molecular biology, and phenotypes of x-linked epilepsy.

Authors:  Hao Deng; Wen Zheng; Zhi Song
Journal:  Mol Neurobiol       Date:  2013-11-22       Impact factor: 5.590

3.  Copy number variation analysis implicates the cell polarity gene glypican 5 as a human spina bifida candidate gene.

Authors:  Alexander G Bassuk; Lakshmi B Muthuswamy; Riley Boland; Tiffany L Smith; Alissa M Hulstrand; Hope Northrup; Matthew Hakeman; Jason M Dierdorff; Christina K Yung; Abby Long; Rachel B Brouillette; Kit Sing Au; Christina Gurnett; Douglas W Houston; Robert A Cornell; J Robert Manak
Journal:  Hum Mol Genet       Date:  2012-12-07       Impact factor: 6.150

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.  A longer polyalanine expansion mutation in the ARX gene causes early infantile epileptic encephalopathy with suppression-burst pattern (Ohtahara syndrome).

Authors:  Mitsuhiro Kato; Shinji Saitoh; Atsushi Kamei; Hideaki Shiraishi; Yuki Ueda; Manami Akasaka; Jun Tohyama; Noriyuki Akasaka; Kiyoshi Hayasaka
Journal:  Am J Hum Genet       Date:  2007-06-11       Impact factor: 11.025

6.  A regulatory path associated with X-linked intellectual disability and epilepsy links KDM5C to the polyalanine expansions in ARX.

Authors:  Loredana Poeta; Francesca Fusco; Denise Drongitis; Cheryl Shoubridge; Genesia Manganelli; Stefania Filosa; Mariateresa Paciolla; Monica Courtney; Patrick Collombat; Maria Brigida Lioi; Jozef Gecz; Matilde Valeria Ursini; Maria Giuseppina Miano
Journal:  Am J Hum Genet       Date:  2012-12-13       Impact factor: 11.025

7.  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
  7 in total

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