Literature DB >> 1511979

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

I Bach1, D Robinson, N Thomas, H H Ropers, F P Cremers.   

Abstract

Linkage studies and cytogenetically visible deletions associated with nonspecific X-linked mental retardation (XLMR) and a specific form of deafness (DFN3) have indicated that the genes responsible for these disorders are located at Xq21. Using DNA probes from this region, we have studied several overlapping deletions spanning different parts of Xq21. This has enabled us to assign the DFN3 gene and a gene for nonspecific XLMR to an interval that encompasses the locus DXS232 and that is flanked by DXS26 and DXS121.

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Year:  1992        PMID： 1511979     DOI： 10.1007/bf00221950

Source DB:  PubMed          Journal:  Hum Genet        ISSN： 0340-6717            Impact factor:   4.132


  34 in total

1.  Phenotypic evidence for a common pathogenesis in X-linked deafness pedigrees and in Xq13-q21 deletion related deafness.

Authors:  W Reardon; S Roberts; P D Phelps; N S Thomas; L Beck; R Issac; H E Hughes
Journal:  Am J Med Genet       Date:  1992-11-01

2.  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

3.  The gene for X-linked progressive mixed deafness with perilymphatic gusher during stapes surgery (DFN3) is linked to PGK.

Authors:  H G Brunner; A van Bennekom; E M Lambermon; T L Oei; W R Cremers; B Wieringa; H H Ropers
Journal:  Hum Genet       Date:  1988-12       Impact factor: 4.132

4.  A simple salting out procedure for extracting DNA from human nucleated cells.

Authors:  S A Miller; D D Dykes; H F Polesky
Journal:  Nucleic Acids Res       Date:  1988-02-11       Impact factor: 16.971

5.  Report of the committee on the genetic constitution of the X and Y chromosomes.

Authors:  K E Davies; J L Mandel; J Weissenbach; M Fellous
Journal:  Cytogenet Cell Genet       Date:  1987

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

Authors:  C Wallis; R Ballo; G Wallis; P Beighton; J Goldblatt
Journal:  Genomics       Date:  1988-11       Impact factor: 5.736

7.  Choroideremia, obesity, and congenital deafness.

Authors:  S Ayazi
Journal:  Am J Ophthalmol       Date:  1981-07       Impact factor: 5.258

8.  Regional localization of polymorphic DNA loci on the proximal long arm of the X chromosome using deletions associated with choroideremia.

Authors:  M Schwartz; H M Yang; E Niebuhr; T Rosenberg; D C Page
Journal:  Hum Genet       Date:  1988-02       Impact factor: 4.132

9.  Adrenoleukodystrophy: a complex chromosomal rearrangement in the Xq28 red/green-color-pigment gene region indicates two possible gene localizations.

Authors:  R Feil; P Aubourg; J Mosser; A M Douar; D Le Paslier; C Philippe; J L Mandel
Journal:  Am J Hum Genet       Date:  1991-12       Impact factor: 11.025

10.  Chromosomal jumping from the DXS165 locus allows molecular characterization of four microdeletions and a de novo chromosome X/13 translocation associated with choroideremia.

Authors:  F P Cremers; D J van de Pol; B Wieringa; F S Collins; E M Sankila; V M Siu; W F Flintoff; F Brunsmann; L A Blonden; H H Ropers
Journal:  Proc Natl Acad Sci U S A       Date:  1989-10       Impact factor: 11.205
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  8 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.  Hypothalamic malformations in patients with X-linked deafness and incomplete partition type 3.

Authors:  Ata Siddiqui; Alessandra D'Amico; Giovanna Stefania Colafati; Domenico Cicala; Giacomo Talenti; Kaukab Rajput; Lorenzo Pinelli; Felice D'Arco
Journal:  Neuroradiology       Date:  2019-06-08       Impact factor: 2.804

3.  Regulation of striatal D1A dopamine receptor gene transcription by Brn-4.

Authors:  H Okazawa; I Imafuku; M T Minowa; I Kanazawa; H Hamada; M M Mouradian
Journal:  Proc Natl Acad Sci U S A       Date:  1996-10-15       Impact factor: 11.205

4.  Deletion mapping of X-linked mixed deafness (DFN3) identifies a 265-525-kb region centromeric of DXS26.

Authors:  N Dahl; J Laporte; L Hu; V Biancalana; D Le Palier; D Cohen; C Piussan; J L Mandel
Journal:  Am J Hum Genet       Date:  1995-04       Impact factor: 11.025

5.  Deletion mapping of the DXS986, DXS995, and DXS1002 loci defines their order within Xq21.

Authors:  P A Clark; T Lester; L Villard; M Fontes; C Kinnon
Journal:  J Med Genet       Date:  1994-04       Impact factor: 6.318

6.  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

7.  X-linked progressive mixed deafness: a new microdeletion that involves a more proximal region in Xq21.

Authors:  C Piussan; A Hanauer; N Dahl; M Mathieu; C Kolski; V Biancalana; S Heyberger; V Strunski
Journal:  Am J Hum Genet       Date:  1995-01       Impact factor: 11.025

8.  A maternally inherited 8.05 Mb Xq21 deletion associated with Choroideremia, deafness, and mental retardation syndrome in a male patient.

Authors:  Siying Liang; Nan Jiang; Shuo Li; Xiaohu Jiang; Dongyi Yu
Journal:  Mol Cytogenet       Date:  2017-06-14       Impact factor: 2.009
  8 in total

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