Literature DB >> 16097002

A novel in-frame deletion in ARX is associated with lissencephaly with absent corpus callosum and hypoplastic genitalia.

Shambhu S Bhat, R Curtis Rogers, Kenton R Holden, Anand K Srivastava.   

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Year:  2005        PMID： 16097002     DOI： 10.1002/ajmg.a.30892

Source DB:  PubMed          Journal:  Am J Med Genet A        ISSN： 1552-4825            Impact factor:   2.802


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  7 in total

Review 1.  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

2.  Mutations in the nuclear localization sequence of the Aristaless related homeobox; sequestration of mutant ARX with IPO13 disrupts normal subcellular distribution of the transcription factor and retards cell division.

Authors:  Cheryl Shoubridge; May Huey Tan; Tod Fullston; Desiree Cloosterman; David Coman; George McGillivray; Grazia M Mancini; Tjitske Kleefstra; Jozef Gécz
Journal:  Pathogenetics       Date:  2010-01-05

3.  Reinitiation of mRNA translation in a patient with X-linked infantile spasms with a protein-truncating variant in ARX.

Authors:  Ching Moey; Scott Topper; Mary Karn; Amy Knight Johnson; Soma Das; Jorge Vidaurre; Cheryl Shoubridge
Journal:  Eur J Hum Genet       Date:  2015-08-26       Impact factor: 4.246

4.  Ohtahara syndrome in a family with an ARX protein truncation mutation (c.81C>G/p.Y27X).

Authors:  Tod Fullston; Louise Brueton; Tracey Willis; Sunny Philip; Lesley MacPherson; Merran Finnis; Jozef Gecz; Jenny Morton
Journal:  Eur J Hum Genet       Date:  2009-09-09       Impact factor: 4.246

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.  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

7.  X-Linked Lissencephaly With Absent Corpus Callosum and Abnormal Genitalia: An Evolving Multisystem Syndrome With Severe Congenital Intestinal Diarrhea Disease.

Authors:  David Coman; Tom Fullston; Cheryl Shoubridge; Richard Leventer; Flora Wong; Simon Nazaretian; Ian Simpson; Josef Gecz; George McGillivray
Journal:  Child Neurol Open       Date:  2017-11-07
  7 in total

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