Literature DB >> 9001795

Nonsyndromic X-linked mental retardation: review and mapping of MRX29 to Xp21.

B Häne1, R J Schroer, J F Arena, H A Lubs, C E Schwartz, R E Stevenson.   

Abstract

The gene responsible for nonsyndromic mental retardation in a family with 7 affected males has been localized to Xp21. The maximal two-point lod score was 3.31 for tight linkage to marker DXS1202 in Xp21.3-p22.3 with crossovers between the 3' portion of the DMD gene (DXS1234) proximally and locus DXS989 distally. The XLMR gene in this family has been assigned the designation MRX29. The localization overlaps with at least six other MRX entities linked to the distal short arm of the X chromosome.

Entities:  

Mesh：

Year:  1996        PMID： 9001795     DOI： 10.1111/j.1399-0004.1996.tb02622.x

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


  7 in total

1.  Deletion mapping and X inactivation analysis of a non-specific mental retardation gene at Xp21.3-Xp22.11.

Authors:  K Muroya; E Kinoshita; T Kamimaki; N Matsuo; T Yorifugi; T Ogata
Journal:  J Med Genet       Date:  1999-03       Impact factor: 6.318

2.  A new X linked recessive syndrome of mental retardation and mild dysmorphism maps to Xq28.

Authors:  G S Pai; B Hane; M Joseph; R Nelson; L S Hammond; J F Arena; H A Lubs; R E Stevenson; C E Schwartz
Journal:  J Med Genet       Date:  1997-07       Impact factor: 6.318

3.  A family with mental retardation, variable macrocephaly and macro-orchidism, and linkage to Xq12-q21.

Authors:  J P Johnson; R Nelson; C E Schwartz
Journal:  J Med Genet       Date:  1998-12       Impact factor: 6.318

4.  X linked mental retardation and infantile spasms in a family: new clinical data and linkage to Xp11.4-Xp22.11.

Authors:  P Strømme; K Sundet; C Mørk; J J Cassiman; J P Fryns; S Claes
Journal:  J Med Genet       Date:  1999-05       Impact factor: 6.318

5.  Is there a Mendelian transmission ratio distortion of the c.429_452dup(24bp) polyalanine tract ARX mutation?

Authors:  Cheryl Shoubridge; Alison Gardner; Charles E Schwartz; Anna Hackett; Michael Field; Jozef Gecz
Journal:  Eur J Hum Genet       Date:  2012-04-11       Impact factor: 4.246

6.  X chromosome cDNA microarray screening identifies a functional PLP2 promoter polymorphism enriched in patients with X-linked mental retardation.

Authors:  Lilei Zhang; Chunfa Jie; Cassandra Obie; Fatima Abidi; Charles E Schwartz; Roger E Stevenson; David Valle; Tao Wang
Journal:  Genome Res       Date:  2007-04-06       Impact factor: 9.043

7.  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 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.