162 related articles for article (PubMed ID: 10079181)
21. X-linked retinoschisis with point mutations in the XLRS1 gene.
Inoue Y; Yamamoto S; Okada M; Tsujikawa M; Inoue T; Okada AA; Kusaka S; Saito Y; Wakabayashi K; Miyake Y; Fujikado T; Tano Y
Arch Ophthalmol; 2000 Jan; 118(1):93-6. PubMed ID: 10636421
[TBL] [Abstract][Full Text] [Related]
22. A nonsense mutation (W9X) in CRYAA causes autosomal recessive cataract in an inbred Jewish Persian family.
Pras E; Frydman M; Levy-Nissenbaum E; Bakhan T; Raz J; Assia EI; Goldman B; Pras E
Invest Ophthalmol Vis Sci; 2000 Oct; 41(11):3511-5. PubMed ID: 11006246
[TBL] [Abstract][Full Text] [Related]
23. A new mutation in BFSP2 (G1091A) causes autosomal dominant congenital lamellar cataracts.
Ma X; Li FF; Wang SZ; Gao C; Zhang M; Zhu SQ
Mol Vis; 2008; 14():1906-11. PubMed ID: 18958306
[TBL] [Abstract][Full Text] [Related]
24. Identification of a novel R642C mutation in Na/Cl cotransporter with Gitelman's syndrome.
Yahata K; Tanaka I; Kotani M; Mukoyama M; Ogawa Y; Goto M; Nakagawa M; Sugawara A; Tanaka K; Shimatsu A; Nakao K
Am J Kidney Dis; 1999 Nov; 34(5):845-53. PubMed ID: 10561140
[TBL] [Abstract][Full Text] [Related]
25. Intragenic polymorphic missense mutations in the XLRS1 gene in families with juvenile X-linked retinoschisis.
Hiraoka M; Trese MT; Shastry BS
Hum Genet; 1999 Jun; 104(6):526-7. PubMed ID: 10453744
[No Abstract] [Full Text] [Related]
26. Identification of novel RP2 mutations in a subset of X-linked retinitis pigmentosa families and prediction of new domains.
Miano MG; Testa F; Filippini F; Trujillo M; Conte I; Lanzara C; Millán JM; De Bernardo C; Grammatico B; Mangino M; Torrente I; Carrozzo R; Simonelli F; Rinaldi E; Ventruto V; D'Urso M; Ayuso C; Ciccodicola A
Hum Mutat; 2001 Aug; 18(2):109-19. PubMed ID: 11462235
[TBL] [Abstract][Full Text] [Related]
27. A mutation in the Norrie disease gene (NDP) associated with X-linked familial exudative vitreoretinopathy.
Chen ZY; Battinelli EM; Fielder A; Bundey S; Sims K; Breakefield XO; Craig IW
Nat Genet; 1993 Oct; 5(2):180-3. PubMed ID: 8252044
[TBL] [Abstract][Full Text] [Related]
28. Novel missense mutations of TMPRSS3 in two consanguineous Tunisian families with non-syndromic autosomal recessive deafness.
Masmoudi S; Antonarakis SE; Schwede T; Ghorbel AM; Gratri M; Pappasavas MP; Drira M; Elgaied-Boulila A; Wattenhofer M; Rossier C; Scott HS; Ayadi H; Guipponi M
Hum Mutat; 2001 Aug; 18(2):101-8. PubMed ID: 11462234
[TBL] [Abstract][Full Text] [Related]
29. Autosomal recessive retinitis pigmentosa is associated with mutations in RP1 in three consanguineous Pakistani families.
Riazuddin SA; Zulfiqar F; Zhang Q; Sergeev YV; Qazi ZA; Husnain T; Caruso R; Riazuddin S; Sieving PA; Hejtmancik JF
Invest Ophthalmol Vis Sci; 2005 Jul; 46(7):2264-70. PubMed ID: 15980210
[TBL] [Abstract][Full Text] [Related]
30. Identification of two novel mutations in families with X-linked ocular albinism.
Iannaccone A; Gallaher KT; Buchholz J; Jennings BJ; Neitz M; Sidjanin DJ
Mol Vis; 2007 Oct; 13():1856-61. PubMed ID: 17960122
[TBL] [Abstract][Full Text] [Related]
31. Lack of association of the Norrie disease gene with retinoschisis phenotype.
Shastry BS; Hiraoka M; Trese MT
Jpn J Ophthalmol; 2000; 44(6):627-9. PubMed ID: 11094177
[TBL] [Abstract][Full Text] [Related]
32. X-linked juvenile retinoschisis: mutations at the retinoschisis and Norrie disease gene loci?
Hiraoka M; Rossi F; Trese MT; Shastry BS
J Hum Genet; 2001; 46(2):53-6. PubMed ID: 11281412
[TBL] [Abstract][Full Text] [Related]
33. Three novel mutations of the RPGR gene exon ORF15 in three Japanese families with X-linked retinitis pigmentosa.
Yokoyama A; Maruiwa F; Hayakawa M; Kanai A; Vervoort R; Wright AF; Yamada K; Niikawa N; Naōi N
Am J Med Genet; 2001 Dec; 104(3):232-8. PubMed ID: 11754050
[TBL] [Abstract][Full Text] [Related]
34. Confirmation of prenatal diagnosis results of X-linked recessive myotubular myopathy by mutational screening, and description of three new mutations in the MTM1 gene.
Tanner SM; Laporte J; Guiraud-Chaumeil C; Liechti-Gallati S
Hum Mutat; 1998; 11(1):62-8. PubMed ID: 9450905
[TBL] [Abstract][Full Text] [Related]
35. Gene symbol: RS1. Disease: X-linked juvenile retinoschisis.
Riveiro R; Trujillo-Tiebas MJ; Gimenez A; Garcia-Hoyos M; Cantalapiedra D; Vallespin E; Queipo A; Ramos C; Ayuso C
Hum Genet; 2005 Dec; 118(3-4):536. PubMed ID: 16521246
[No Abstract] [Full Text] [Related]
36. Gene symbol: RS1. Disease: X-linked juvenile retinoschisis.
Riveiro R; Trujillo-Tiebas MJ; Gimenez A; Garcia-Hoyos M; Cantalapiedra D; Vallespin E; Queipo A; Ramos C; Ayuso C
Hum Genet; 2005 Dec; 118(3-4):536. PubMed ID: 16521245
[No Abstract] [Full Text] [Related]
37. Gene symbol: RS1. Disease: X-linked juvenile retinoschisis.
Riveiro R; Trujillo-Tiebas MJ; Gimenez A; Garcia-Hoyos M; Cantalapiedra D; Vallespin E; Queipo A; Ramos C; Ayuso C
Hum Genet; 2005 Dec; 118(3-4):535. PubMed ID: 16521244
[No Abstract] [Full Text] [Related]
38. Molecular characterization of hemophilia B in North Indian families: identification of novel and recurrent molecular events in the factor IX gene.
Mahajan A; Chavali S; Kabra M; Chowdhury MR; Bharadwaj D
Haematologica; 2004 Dec; 89(12):1498-503. PubMed ID: 15590401
[TBL] [Abstract][Full Text] [Related]
39. Positional cloning of the gene associated with X-linked juvenile retinoschisis.
Sauer CG; Gehrig A; Warneke-Wittstock R; Marquardt A; Ewing CC; Gibson A; Lorenz B; Jurklies B; Weber BH
Nat Genet; 1997 Oct; 17(2):164-70. PubMed ID: 9326935
[TBL] [Abstract][Full Text] [Related]
40. Gene symbol: RS1. Disease: X-linked juvenile retinoschisis.
Riveiro R; Trujillo-Tiebas MJ; Gimenez A; Garcia-Hoyos M; Cantalapiedra D; Vallespin E; Queipo A; Ramos C; Ayuso C
Hum Genet; 2005 Dec; 118(3-4):535. PubMed ID: 16521243
[No Abstract] [Full Text] [Related]
[Previous] [Next] [New Search]