Literature DB >> 2018056

XLMR genes: update 1990.

G Neri1, F Gurrieri, A Gal, H A Lubs.   

Abstract

We have identified 39 X-linked conditions in which mental retardation seems to be the primary characteristic, although pathogenesis is unknown. These conditions can be subdivided into syndromal and non-syndromal, depending on the existence of a recognizable pattern of minor anomalies and/or malformations, or lack thereof. Seventeen genes have been regionally mapped onto the X chromosome. However, in 14 instances the data were derived from a single family and most lod scores were less than 3.0.

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Year:  1991        PMID: 2018056     DOI: 10.1002/ajmg.1320380204

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


  7 in total

1.  X linked severe mental retardation, craniofacial dysmorphology, epilepsy, ophthalmoplegia, and cerebellar atrophy in a large South African kindred is localised to Xq24-q27.

Authors:  A L Christianson; R E Stevenson; C H van der Meyden; J Pelser; F W Theron; P L van Rensburg; M Chandler; C E Schwartz
Journal:  J Med Genet       Date:  1999-10       Impact factor: 6.318

2.  X-linked mental retardation with seizures and carrier manifestations is caused by a mutation in the creatine-transporter gene (SLC6A8) located in Xq28.

Authors:  Kimberly A Hahn; Gajja S Salomons; Darci Tackels-Horne; Tim C Wood; Harold A Taylor; Richard J Schroer; Herbert A Lubs; Cornelis Jakobs; Rick L Olson; Kenton R Holden; Roger E Stevenson; Charles E Schwartz
Journal:  Am J Hum Genet       Date:  2002-03-15       Impact factor: 11.025

3.  Non-specific X linked mental retardation with aphasia exhibiting genetic linkage to chromosomal region Xp11.

Authors:  G N Wilson; C S Richards; K Katz; G S Brookshire
Journal:  J Med Genet       Date:  1992-09       Impact factor: 6.318

4.  Linkage to Xq28 in a family with nonspecific X-linked mental retardation.

Authors:  A M Nordström; M Penttinen; H von Koskull
Journal:  Hum Genet       Date:  1992-11       Impact factor: 4.132

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

Review 6.  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

7.  Linkage of the gene for an X-linked mental retardation disorder to a hypervariable (AGAT)n repeat motif within the human hypoxanthine phosphoribosyltransferase (HPRT) locus (Xq26).

Authors:  T H Huang; J F Hejtmancik; A Edwards; A L Pettigrew; C A Herrera; H A Hammond; C T Caskey; H Y Zoghbi; D H Ledbetter
Journal:  Am J Hum Genet       Date:  1991-12       Impact factor: 11.025

  7 in total

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