Literature DB >> 1605216

Nomenclature guidelines for X-linked mental retardation.

J C Mulley1, B Kerr, R Stevenson, H Lubs.   

Abstract

Nomenclature guidelines are proposed for non-specific and for syndromal forms of X-linked mental retardation. Non-specific mental retardations (MRX) are given unique symbols for each family (MRX1, MRX2, MRX3 ...). Syndromal mental retardations (MRXS) which do not as yet have specific symbols are given unique interim symbols for each syndrome (MRXS1, MRXS2, MRXS3 ...). The prerequisite for assignment of serial MRX and MRXS gene symbols is a minimum lod score (or multipoint lod score) of +2 between the MR locus and one or more X chromosome markers. Prior approval of availability for proposed gene symbols must be obtained from the Nomenclature Committee of the Human Gene Mapping Workshops.

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Year:  1992        PMID: 1605216     DOI: 10.1002/ajmg.1320430159

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


  9 in total

1.  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

2.  Mutations in the guanine nucleotide exchange factor gene IQSEC2 cause nonsyndromic intellectual disability.

Authors:  Cheryl Shoubridge; Patrick S Tarpey; Fatima Abidi; Sarah L Ramsden; Sinitdhorn Rujirabanjerd; Jessica A Murphy; Jackie Boyle; Marie Shaw; Alison Gardner; Anne Proos; Helen Puusepp; F Lucy Raymond; Charles E Schwartz; Roger E Stevenson; Gill Turner; Michael Field; Randall S Walikonis; Robert J Harvey; Anna Hackett; P Andrew Futreal; Michael R Stratton; Jozef Gécz
Journal:  Nat Genet       Date:  2010-05-16       Impact factor: 38.330

3.  Arch fingerprints, hypotonia, and areflexia associated with X linked mental retardation.

Authors:  R E Stevenson; B Häne; J F Arena; M May; L Lawrence; H A Lubs; C E Schwartz
Journal:  J Med Genet       Date:  1997-06       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.  X-linked mental retardation: in pursuit of a gene map.

Authors:  C E Schwartz
Journal:  Am J Hum Genet       Date:  1993-06       Impact factor: 11.025

6.  Two unrelated patients with inversions of the X chromosome and non-specific mental retardation: physical and transcriptional mapping of their common breakpoint region in Xq13.1.

Authors:  L Villard; S Briault; A M Lossi; C Paringaux; J Belougne; L Colleaux; D R Pincus; E Woollatt; J Lespinasse; A Munnich; C Moraine; M Fontès; J Gecz
Journal:  J Med Genet       Date:  1999-10       Impact factor: 6.318

7.  Expanding the phenotype of IQSEC2 mutations: truncating mutations in severe intellectual disability.

Authors:  Frederic Tran Mau-Them; Marjolaine Willems; Beate Albrecht; Elodie Sanchez; Jacques Puechberty; Sabine Endele; Anouck Schneider; Nathalie Ruiz Pallares; Chantal Missirian; Francois Rivier; Manon Girard; Muriel Holder; Sylvie Manouvrier; Isabelle Touitou; Genevieve Lefort; Pierre Sarda; Anne Moncla; Severine Drunat; Dagmar Wieczorek; David Genevieve
Journal:  Eur J Hum Genet       Date:  2013-05-15       Impact factor: 4.246

8.  IQSEC2 and X-linked syndromal intellectual disability.

Authors:  Aaron F Alexander-Bloch; Christopher J McDougle; Zhanna Ullman; David A Sweetser
Journal:  Psychiatr Genet       Date:  2016-06       Impact factor: 2.574

9.  Loss of ARHGEF6 Causes Hair Cell Stereocilia Deficits and Hearing Loss in Mice.

Authors:  Chengwen Zhu; Cheng Cheng; Yanfei Wang; Waqas Muhammad; Shuang Liu; Weijie Zhu; Buwei Shao; Zhong Zhang; Xiaoqian Yan; Qingqing He; Zhengrong Xu; Chenjie Yu; Xiaoyun Qian; Ling Lu; Shasha Zhang; Yuan Zhang; Wei Xiong; Xia Gao; Zhigang Xu; Renjie Chai
Journal:  Front Mol Neurosci       Date:  2018-10-02       Impact factor: 5.639

  9 in total

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