Literature DB >> 3243543

X-linked mixed deafness with stapes fixation in a Mauritian kindred: linkage to Xq probe pDP34.

C Wallis1, R Ballo, G Wallis, P Beighton, J Goldblatt.   

Abstract

Molecular linkage analysis was undertaken on a large Mauritian kindred with X-linked mixed deafness, stapes fixation, and perilymphatic gusher (X-LDSF). DNA probe pDP34 (DXYS1) was tightly linked to the disorder, with a lod score of 6.32 at zero recombination. This observation indicates that the gene for this form of deafness maps to the Xq13-q21.1 region and has important implications for carrier screening and antenatal diagnosis.

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Year:  1988        PMID： 3243543     DOI： 10.1016/0888-7543(88)90119-x

Source DB:  PubMed          Journal:  Genomics        ISSN： 0888-7543            Impact factor:   5.736


  17 in total

1.  A family with X-linked deafness showing linkage to the proximal Xq region of the X chromosome.

Authors:  D Robinson; M Lamont; G Curtis; D C Shields; P Phelps
Journal:  Hum Genet       Date:  1992-11       Impact factor: 4.132

2.  Physical fine mapping of genes underlying X-linked deafness and non fra (X)-X-linked mental retardation at Xq21.

Authors:  I Bach; D Robinson; N Thomas; H H Ropers; F P Cremers
Journal:  Hum Genet       Date:  1992-08       Impact factor: 4.132

3.  The genetics of deafness.

Authors:  W Reardon; M Pembrey
Journal:  Arch Dis Child       Date:  1990-11       Impact factor: 3.791

Review 4.  Medical genetics in South Africa.

Authors:  T Jenkins
Journal:  J Med Genet       Date:  1990-12       Impact factor: 6.318

5.  Microdeletions in patients with gusher-associated, X-linked mixed deafness (DFN3).

Authors:  I Bach; H G Brunner; P Beighton; R H Ruvalcaba; W Reardon; M E Pembrey; S D van der Velde-Visser; G A Bruns; C W Cremers; F P Cremers
Journal:  Am J Hum Genet       Date:  1992-07       Impact factor: 11.025

6.  X-linked deafness, stapes gushers and a distinctive defect of the inner ear.

Authors:  P D Phelps; W Reardon; M Pembrey; S Bellman; L Luxom
Journal:  Neuroradiology       Date:  1991       Impact factor: 2.804

7.  A new X linked recessive deafness syndrome with blindness, dystonia, fractures, and mental deficiency is linked to Xq22.

Authors:  L Tranebjaerg; C Schwartz; H Eriksen; S Andreasson; V Ponjavic; A Dahl; R E Stevenson; M May; F Arena; D Barker
Journal:  J Med Genet       Date:  1995-04       Impact factor: 6.318

8.  Sex linked deafness: Wilde revisited.

Authors:  W Reardon
Journal:  J Med Genet       Date:  1990-06       Impact factor: 6.318

9.  Refinement of the locus for non-syndromic sensorineural deafness (DFN2).

Authors:  Bin Cui; Haibing Zhang; Yongzhong Lu; Wei Zhong; Gang Pei; Xiangyin Kong; Landian Hu
Journal:  J Genet       Date:  2004-04       Impact factor: 1.166

10.  Genetic mapping of X-linked albinism-deafness syndrome (ADFN) to Xq26.3-q27.I.

Authors:  Y Shiloh; G Litvak; Y Ziv; T Lehner; L Sandkuyl; M Hildesheimer; V Buchris; F P Cremers; P Szabo; B N White
Journal:  Am J Hum Genet       Date:  1990-07       Impact factor: 11.025
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