153 related articles for article (PubMed ID: 1609803)
1. Microdeletions in patients with gusher-associated, X-linked mixed deafness (DFN3).
Bach I; Brunner HG; Beighton P; Ruvalcaba RH; Reardon W; Pembrey ME; van der Velde-Visser SD; Bruns GA; Cremers CW; Cremers FP
Am J Hum Genet; 1992 Jul; 51(1):38-44. PubMed ID: 1609803
[TBL] [Abstract][Full Text] [Related]
2. The gene for X-linked progressive mixed deafness with perilymphatic gusher during stapes surgery (DFN3) is linked to PGK.
Brunner HG; van Bennekom A; Lambermon EM; Oei TL; Cremers WR; Wieringa B; Ropers HH
Hum Genet; 1988 Dec; 80(4):337-40. PubMed ID: 2904400
[TBL] [Abstract][Full Text] [Related]
3. X-linked mixed deafness (DFN3): cloning and characterization of the critical region allows the identification of novel microdeletions.
Huber I; Bitner-Glindzicz M; de Kok YJ; van der Maarel SM; Ishikawa-Brush Y; Monaco AP; Robinson D; Malcolm S; Pembrey ME; Brunner HG
Hum Mol Genet; 1994 Jul; 3(7):1151-4. PubMed ID: 7981685
[TBL] [Abstract][Full Text] [Related]
4. Deletion mapping of X-linked mixed deafness (DFN3) identifies a 265-525-kb region centromeric of DXS26.
Dahl N; Laporte J; Hu L; Biancalana V; Le Palier D; Cohen D; Piussan C; Mandel JL
Am J Hum Genet; 1995 Apr; 56(4):999-1002. PubMed ID: 7717411
[No Abstract] [Full Text] [Related]
5. Physical fine mapping of genes underlying X-linked deafness and non fra (X)-X-linked mental retardation at Xq21.
Bach I; Robinson D; Thomas N; Ropers HH; Cremers FP
Hum Genet; 1992 Aug; 89(6):620-4. PubMed ID: 1511979
[TBL] [Abstract][Full Text] [Related]
6. Identification of a hot spot for microdeletions in patients with X-linked deafness type 3 (DFN3) 900 kb proximal to the DFN3 gene POU3F4.
de Kok YJ; Vossenaar ER; Cremers CW; Dahl N; Laporte J; Hu LJ; Lacombe D; Fischel-Ghodsian N; Friedman RA; Parnes LS; Thorpe P; Bitner-Glindzicz M; Pander HJ; Heilbronner H; Graveline J; den Dunnen JT; Brunner HG; Ropers HH; Cremers FP
Hum Mol Genet; 1996 Sep; 5(9):1229-35. PubMed ID: 8872461
[TBL] [Abstract][Full Text] [Related]
7. Choroideremia and deafness with stapes fixation: a contiguous gene deletion syndrome in Xq21.
Merry DE; Lesko JG; Sosnoski DM; Lewis RA; Lubinsky M; Trask B; van den Engh G; Collins FS; Nussbaum RL
Am J Hum Genet; 1989 Oct; 45(4):530-40. PubMed ID: 2491012
[TBL] [Abstract][Full Text] [Related]
8. X-linked progressive mixed deafness: a new microdeletion that involves a more proximal region in Xq21.
Piussan C; Hanauer A; Dahl N; Mathieu M; Kolski C; Biancalana V; Heyberger S; Strunski V
Am J Hum Genet; 1995 Jan; 56(1):224-30. PubMed ID: 7825582
[TBL] [Abstract][Full Text] [Related]
9. DXS26 (HU16) is located in Xq21.1.
Sankila EM; Bruns GA; Schwartz M; Nikoskelainen E; Niebuhr E; Hodgson SV; Wright AF; de la Chapelle A
Hum Genet; 1990 Jun; 85(1):117-20. PubMed ID: 2162804
[TBL] [Abstract][Full Text] [Related]
10. Association between X-linked mixed deafness and mutations in the POU domain gene POU3F4.
de Kok YJ; van der Maarel SM; Bitner-Glindzicz M; Huber I; Monaco AP; Malcolm S; Pembrey ME; Ropers HH; Cremers FP
Science; 1995 Feb; 267(5198):685-8. PubMed ID: 7839145
[TBL] [Abstract][Full Text] [Related]
11. Molecular analysis of four males with mental retardation and deletions of Xq21 places the putative MR region in Xq21.1 between DXS233 and CHM.
May M; Colleaux L; Murgia A; Aylsworth A; Nussbaum R; Fontes M; Schwartz C
Hum Mol Genet; 1995 Aug; 4(8):1465-6. PubMed ID: 7581391
[No Abstract] [Full Text] [Related]
12. A duplication/paracentric inversion associated with familial X-linked deafness (DFN3) suggests the presence of a regulatory element more than 400 kb upstream of the POU3F4 gene.
de Kok YJ; Merkx GF; van der Maarel SM; Huber I; Malcolm S; Ropers HH; Cremers FP
Hum Mol Genet; 1995 Nov; 4(11):2145-50. PubMed ID: 8589693
[TBL] [Abstract][Full Text] [Related]
13. Physical fine mapping of the choroideremia locus using Xq21 deletions associated with complex syndromes.
Cremers FP; van de Pol DJ; Diergaarde PJ; Wieringa B; Nussbaum RL; Schwartz M; Ropers HH
Genomics; 1989 Jan; 4(1):41-6. PubMed ID: 2914708
[TBL] [Abstract][Full Text] [Related]
14. X-linked mixed deafness with stapes fixation in a Mauritian kindred: linkage to Xq probe pDP34.
Wallis C; Ballo R; Wallis G; Beighton P; Goldblatt J
Genomics; 1988 Nov; 3(4):299-301. PubMed ID: 3243543
[TBL] [Abstract][Full Text] [Related]
15. A new mutation in the POU3F4 gene in a Japanese family with X-linked mixed deafness (DFN3).
Hagiwara H; Tamagawa Y; Kitamura K; Kodera K
Laryngoscope; 1998 Oct; 108(10):1544-7. PubMed ID: 9778298
[TBL] [Abstract][Full Text] [Related]
16. Close linkage of a gene for X linked deafness to three microsatellite repeats at Xq21 in radiologically normal and abnormal families.
Bitner-Glindzicz M; de Kok Y; Summers D; Huber I; Cremers FP; Ropers HH; Reardon W; Pembrey ME; Malcolm S
J Med Genet; 1994 Dec; 31(12):916-21. PubMed ID: 7891371
[TBL] [Abstract][Full Text] [Related]
17. Deletion of the DXS165 locus in patients with classical choroideremia.
Cremers FP; Brunsmann F; van de Pol TJ; Pawlowitzki IH; Paulsen K; Wieringa B; Ropers HH
Clin Genet; 1987 Dec; 32(6):421-3. PubMed ID: 3481306
[TBL] [Abstract][Full Text] [Related]
18. Mapping and cloning hereditary deafness genes.
Cremers FP; Bitner-Glindzicz M; Pembrey ME; Ropers HH
Curr Opin Genet Dev; 1995 Jun; 5(3):371-5. PubMed ID: 7549433
[TBL] [Abstract][Full Text] [Related]
19. [Clinical and molecular genetic analysis of monozygotic twins displaying stapes gusher syndrome (DFN3)].
Oh N; Kupka S; Mirghomizadeh F; Arold R; Zimmermann R; Blin N; Zenner HP; Pfister M
HNO; 2003 Aug; 51(8):629-33. PubMed ID: 12942177
[TBL] [Abstract][Full Text] [Related]
20. A novel ribosomal S6-kinase (RSK4; RPS6KA6) is commonly deleted in patients with complex X-linked mental retardation.
Yntema HG; van den Helm B; Kissing J; van Duijnhoven G; Poppelaars F; Chelly J; Moraine C; Fryns JP; Hamel BC; Heilbronner H; Pander HJ; Brunner HG; Ropers HH; Cremers FP; van Bokhoven H
Genomics; 1999 Dec; 62(3):332-43. PubMed ID: 10644430
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]