138 related articles for article (PubMed ID: 3438052)
1. Choroideremia, congenital deafness and mental retardation in a family with an X chromosomal deletion.
Rosenberg T; Niebuhr E; Yang HM; Parving A; Schwartz M
Ophthalmic Paediatr Genet; 1987 Nov; 8(3):139-43. PubMed ID: 3438052
[TBL] [Abstract][Full Text] [Related]
2. Prenatal diagnosis of X-linked choroideremia with mental retardation, associated with a cytologically detectable X-chromosome deletion.
Hodgson SV; Robertson ME; Fear CN; Goodship J; Malcolm S; Jay B; Bobrow M; Pembrey ME
Hum Genet; 1987 Mar; 75(3):286-90. PubMed ID: 3030927
[TBL] [Abstract][Full Text] [Related]
3. Choroideremia in interstitial deletion of the X chromosome.
Rosenberg T; Schwartz M; Niebuhr E; Yang HM; Sardemann H; Andersen O; Lundsteen C
Ophthalmic Paediatr Genet; 1986 Dec; 7(3):205-10. PubMed ID: 2882458
[TBL] [Abstract][Full Text] [Related]
4. 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]
5. Isolation of anonymous DNA sequences from within a submicroscopic X chromosomal deletion in a patient with choroideremia, deafness, and mental retardation.
Nussbaum RL; Lesko JG; Lewis RA; Ledbetter SA; Ledbetter DH
Proc Natl Acad Sci U S A; 1987 Sep; 84(18):6521-5. PubMed ID: 3476958
[TBL] [Abstract][Full Text] [Related]
6. 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]
7. A maternally inherited 8.05 Mb Xq21 deletion associated with Choroideremia, deafness, and mental retardation syndrome in a male patient.
Liang S; Jiang N; Li S; Jiang X; Yu D
Mol Cytogenet; 2017; 10():23. PubMed ID: 28630650
[TBL] [Abstract][Full Text] [Related]
8. Yeast artificial chromosome cloning of the Xq13.3-q21.31 region and fine mapping of a deletion associated with choroideremia and nonspecific mental retardation.
van der Maarel SM; Scholten IH; Maat-Kievit JA; Huber I; de Kok YJ; de Wijs I; van de Pol TJ; van Bokhoven H; den Dunnen JT; van Ommen GJ
Eur J Hum Genet; 1995; 3(4):207-18. PubMed ID: 8528669
[TBL] [Abstract][Full Text] [Related]
9. 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]
10. Choroideremia, obesity, and congenital deafness.
Ayazi S
Am J Ophthalmol; 1981 Jul; 92(1):63-9. PubMed ID: 7258279
[No Abstract] [Full Text] [Related]
11. 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]
12. 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]
13. Regional localization of polymorphic DNA loci on the proximal long arm of the X chromosome using deletions associated with choroideremia.
Schwartz M; Yang HM; Niebuhr E; Rosenberg T; Page DC
Hum Genet; 1988 Feb; 78(2):156-60. PubMed ID: 3422216
[TBL] [Abstract][Full Text] [Related]
14. Multipoint linkage analysis of loci in the proximal long arm of the human X chromosome: application to mapping the choroideremia locus.
Lesko JG; Lewis RA; Nussbaum RL
Am J Hum Genet; 1987 Apr; 40(4):303-11. PubMed ID: 2883887
[TBL] [Abstract][Full Text] [Related]
15. The Norrie disease gene maps to a 150 kb region on chromosome Xp11.3.
Sims KB; Lebo RV; Benson G; Shalish C; Schuback D; Chen ZY; Bruns G; Craig IW; Golbus MS; Breakefield XO
Hum Mol Genet; 1992 May; 1(2):83-9. PubMed ID: 1301161
[TBL] [Abstract][Full Text] [Related]
16. A new X linked recessive deafness syndrome with blindness, dystonia, fractures, and mental deficiency is linked to Xq22.
Tranebjaerg L; Schwartz C; Eriksen H; Andreasson S; Ponjavic V; Dahl A; Stevenson RE; May M; Arena F; Barker D
J Med Genet; 1995 Apr; 32(4):257-63. PubMed ID: 7643352
[TBL] [Abstract][Full Text] [Related]
17. Molecular characterization of a deleted X chromosome (Xq13.3-Xq21.31) exhibiting random X inactivation.
Migeon BR; Stetten G; Tuck-Muller C; Axelman J; Jani M; Dungy D
Somat Cell Mol Genet; 1995 Mar; 21(2):113-20. PubMed ID: 7570183
[TBL] [Abstract][Full Text] [Related]
18. Choroideremia-locus maps between DXS3 and DXS11 on Xq.
Gal A; Brunsmann F; Hogenkamp D; Rüther K; Ahlert D; Wienker TF; Hammerstein W; Pawlowitzki IH
Hum Genet; 1986 Jun; 73(2):123-6. PubMed ID: 3755117
[TBL] [Abstract][Full Text] [Related]
19. Mapping X-linked ophthalmic diseases. Provisional assignment of the locus for choroideremia to Xq13-q24.
Lewis RA; Nussbaum RL; Ferrell R
Ophthalmology; 1985 Jun; 92(6):800-6. PubMed ID: 4034175
[TBL] [Abstract][Full Text] [Related]
20. Choroideremia, sensorineural deafness, and primary ovarian failure in a woman with a balanced X-4 translocation.
Lorda-Sanchez IJ; Ibañez AJ; Sanz RJ; Trujillo MJ; Anabitarte ME; Querejeta ME; Rodriguez de Alba M; Gimenez A; Infantes F; Ramos C; Garcia-Sandoval B; Ayuso C
Ophthalmic Genet; 2000 Sep; 21(3):185-9. PubMed ID: 11035551
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]