Literature DB >> 7943038

XLMR genes: update 1994.

G Neri1, P Chiurazzi, J F Arena, H A Lubs.   

Abstract

We provide a comprehensive list of all known forms of X-linked mental retardation. It comprises 127 entries, subdivided into 5 categories (syndromes, dominant disorders, metabolic disorders, neuromuscular disorders, and nonspecific mental retardation). Map location of 69 putative loci demonstrates several overlaps, which will only be resolved by more refined mapping or cloning of the respective genes. The ultimate goal of identifying all the genes on the X chromosome whose mutations cause mental retardation will require a concerted effort between clinical and molecular investigators.

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Year:  1994        PMID: 7943038     DOI: 10.1002/ajmg.1320510451

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


  7 in total

1.  PPM-X: a new X-linked mental retardation syndrome with psychosis, pyramidal signs, and macroorchidism maps to Xq28.

Authors:  S Lindsay; M Splitt; S Edney; T P Berney; S J Knight; K E Davies; O O'Brien; M Gale; J Burn
Journal:  Am J Hum Genet       Date:  1996-06       Impact factor: 11.025

2.  Localisation of two candidate genes for mental retardation using a YAC physical map of the Xq21.1-21.2 subbands.

Authors:  L Colleaux; M May; J Belougne; D Lepaslier; C Schwartz; M Fontes
Journal:  J Med Genet       Date:  1996-05       Impact factor: 6.318

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

4.  Characterisation of an inverted X chromosome (p11.2q21.3) associated with mental retardation using FISH.

Authors:  F Sloan-Béna; C Philippe; B LeHeup; F Wuilque; E R Levy; M Chéry; P Jonveaux; A P Monaco
Journal:  J Med Genet       Date:  1998-02       Impact factor: 6.318

5.  Splicing mutation in the ATR-X gene can lead to a dysmorphic mental retardation phenotype without alpha-thalassemia.

Authors:  L Villard; A Toutain; A M Lossi; J Gecz; C Houdayer; C Moraine; M Fontès
Journal:  Am J Hum Genet       Date:  1996-03       Impact factor: 11.025

6.  Localisation of a new gene for non-specific mental retardation to Xq22-q26 (MRX35).

Authors:  X X Gu; R Decorte; P Marynen; J P Fryns; J J Cassiman; P Raeymaekers
Journal:  J Med Genet       Date:  1996-01       Impact factor: 6.318

Review 7.  Diagnosis of inherited metabolic disorders affecting the nervous system.

Authors:  P D Swanson
Journal:  J Neurol Neurosurg Psychiatry       Date:  1995-11       Impact factor: 10.154

  7 in total

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