Literature DB >> 10751095

Identification of a mutation in the XNP/ATR-X gene in a family reported as Smith-Fineman-Myers syndrome.

L Villard, M Fontès, L C Adès, J Gecz.   

Abstract

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Year:  2000        PMID： 10751095

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


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  8 in total

1.  Mutation in CUL4B, which encodes a member of cullin-RING ubiquitin ligase complex, causes X-linked mental retardation.

Authors:  Yongxin Zou; Qiji Liu; Bingxi Chen; Xiyu Zhang; Chenhong Guo; Haibin Zhou; Jiangxia Li; Guimin Gao; Yishou Guo; Chuanzhu Yan; Jianjun Wei; Changshun Shao; Yaoqin Gong
Journal:  Am J Hum Genet       Date:  2007-01-25       Impact factor: 11.025

2.  The chromatin-remodeling protein ATRX is critical for neuronal survival during corticogenesis.

Authors:  Nathalie G Bérubé; Marie Mangelsdorf; Magdalena Jagla; Jackie Vanderluit; David Garrick; Richard J Gibbons; Douglas R Higgs; Ruth S Slack; David J Picketts
Journal:  J Clin Invest       Date:  2005-02       Impact factor: 14.808

Review 3.  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

Review 4.  The role of genetics in the establishment and maintenance of the epigenome.

Authors:  Covadonga Huidobro; Agustin F Fernandez; Mario F Fraga
Journal:  Cell Mol Life Sci       Date:  2013-03-10       Impact factor: 9.261

Review 5.  Alpha thalassaemia-mental retardation, X linked.

Authors:  Richard Gibbons
Journal:  Orphanet J Rare Dis       Date:  2006-05-04       Impact factor: 4.123

6.  Molecular Mechanisms of Syndromic Cryptorchidism: Data Synthesis of 50 Studies and Visualization of Gene-Disease Network.

Authors:  Kristian Urh; Živa Kolenc; Maj Hrovat; Luka Svet; Peter Dovč; Tanja Kunej
Journal:  Front Endocrinol (Lausanne)       Date:  2018-07-26       Impact factor: 5.555

7.  Identification of a Hemizygous Novel Splicing Variant in ATRX Gene: A Case Report and Literature Review.

Authors:  Yan Cong; Jie Wu; Hao Wang; Ke Wu; Cui Huang; Xuejian Yang
Journal:  Front Pediatr       Date:  2022-04-04       Impact factor: 3.418

Review 8.  A novel exomal ATRX mutation with preferential transmission to offspring: A case report and review of the literature for transmission ratio distortion in ATRX families.

Authors:  Mariano Stabile; Davide Colavito; Elda Del Giudice; Anna F Rispoli; Marina C Ingenito; Anna K Naumova
Journal:  Mol Med Rep       Date:  2020-10-09       Impact factor: 2.952
  8 in total

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