259 related articles for article (PubMed ID: 16754205)
1. Scanning the ocular albinism 1 (OA1) gene for polymorphisms in congenital nystagmus by DHPLC.
Sallmann GB; Bray PJ; Rogers S; Quince A; Cotton RG; Carden SM
Ophthalmic Genet; 2006 Jun; 27(2):43-9. PubMed ID: 16754205
[TBL] [Abstract][Full Text] [Related]
2. New insights into ocular albinism type 1 (OA1): Mutations and polymorphisms of the OA1 gene.
Oetting WS
Hum Mutat; 2002 Feb; 19(2):85-92. PubMed ID: 11793467
[TBL] [Abstract][Full Text] [Related]
3. Abnormal crossing of the optic fibres shown by evoked magnetic fields in patients with ocular albinism with a novel mutation in the OA1 gene.
Lauronen L; Jalkanen R; Huttunen J; Carlsson E; Tuupanen S; Lindh S; Forsius H; Sankila EM; Alitalo T
Br J Ophthalmol; 2005 Jul; 89(7):820-4. PubMed ID: 15965158
[TBL] [Abstract][Full Text] [Related]
4. 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]
5. Diagnostic DNA testing for X-linked ocular albinism (OA1) with a hierarchical mutation screening protocol.
Hegde M; Lewis RA; Richards CS
Genet Test; 2002; 6(1):7-14. PubMed ID: 12180081
[TBL] [Abstract][Full Text] [Related]
6. Identification of three novel OA1 gene mutations identified in three families misdiagnosed with congenital nystagmus and carrier status determination by real-time quantitative PCR assay.
Faugère V; Tuffery-Giraud S; Hamel C; Claustres M
BMC Genet; 2003 Jan; 4():1. PubMed ID: 12515581
[TBL] [Abstract][Full Text] [Related]
7. GPR143 mutations in Chinese patients with ocular albinism type 1.
Jia X; Yuan J; Jia X; Ling S; Li S; Guo X
Mol Med Rep; 2017 May; 15(5):3069-3075. PubMed ID: 28339057
[TBL] [Abstract][Full Text] [Related]
8. Mutational analysis of the OA1 gene in ocular albinism.
Camand O; Boutboul S; Arbogast L; Roche O; Sternberg C; Sutherland J; Levin A; Héon E; Menasche M; Dufier J; Abitbol M
Ophthalmic Genet; 2003 Sep; 24(3):167-73. PubMed ID: 12868035
[TBL] [Abstract][Full Text] [Related]
9. Novel human pathological mutations. Gene symbol: OA1. Disease: albinism, ocular.
Martinez-Garcia M; Trujillo-Tiebas MJ; Villaverde C; López-Martínez MA; Ayuso C
Hum Genet; 2009 Apr; 125(3):349. PubMed ID: 19320034
[No Abstract] [Full Text] [Related]
10. Deletion in the OA1 gene in a family with congenital X linked nystagmus.
Preising M; Op de Laak JP; Lorenz B
Br J Ophthalmol; 2001 Sep; 85(9):1098-103. PubMed ID: 11520764
[TBL] [Abstract][Full Text] [Related]
11. Isolation and characterization of a mouse homolog of the X-linked ocular albinism (OA1) gene.
Newton JM; Orlow SJ; Barsh GS
Genomics; 1996 Oct; 37(2):219-25. PubMed ID: 8921399
[TBL] [Abstract][Full Text] [Related]
12. Novel GPR143 mutations and clinical characteristics in six Chinese families with X-linked ocular albinism.
Fang S; Guo X; Jia X; Xiao X; Li S; Zhang Q
Mol Vis; 2008; 14():1974-82. PubMed ID: 18978956
[TBL] [Abstract][Full Text] [Related]
13. Screening of TYR, OCA2, GPR143, and MC1R in patients with congenital nystagmus, macular hypoplasia, and fundus hypopigmentation indicating albinism.
Preising MN; Forster H; Gonser M; Lorenz B
Mol Vis; 2011 Apr; 17():939-48. PubMed ID: 21541274
[TBL] [Abstract][Full Text] [Related]
14. Clinical and molecular characterization of a family affected with X-linked ocular albinism (OA1).
Lam BL; Fingert JH; Shutt BC; Singleton EM; Merin LM; Brown HH; Sheffield VC; Stone EM
Ophthalmic Genet; 1997 Dec; 18(4):175-84. PubMed ID: 9457748
[TBL] [Abstract][Full Text] [Related]
15. GPR143 mutational analysis in two Italian families with X-linked ocular albinism.
Micale L; Augello B; Fusco C; Turturo MG; Granatiero M; Piemontese MR; Zelante L; Cecconi A; Merla G
Genet Test Mol Biomarkers; 2009 Aug; 13(4):527-31. PubMed ID: 19604113
[TBL] [Abstract][Full Text] [Related]
16. A novel splicing site mutation of the GPR143 gene in a Chinese X-linked ocular albinism pedigree.
Cai CY; Zhu H; Shi W; Su L; Shi O; Cai CQ; Ling C; Li WD
Genet Mol Res; 2013 Nov; 12(4):5673-9. PubMed ID: 24301936
[TBL] [Abstract][Full Text] [Related]
17.
Zhong J; You B; Xu K; Zhang X; Xie Y; Li Y
Ophthalmic Genet; 2021 Dec; 42(6):717-724. PubMed ID: 34346269
[TBL] [Abstract][Full Text] [Related]
18. OA1 mutations and deletions in X-linked ocular albinism.
Schnur RE; Gao M; Wick PA; Keller M; Benke PJ; Edwards MJ; Grix AW; Hockey A; Jung JH; Kidd KK; Kistenmacher M; Levin AV; Lewis RA; Musarella MA; Nowakowski RW; Orlow SJ; Pagon RS; Pillers DA; Punnett HH; Quinn GE; Tezcan K; Wagstaff J; Weleber RG
Am J Hum Genet; 1998 Apr; 62(4):800-9. PubMed ID: 9529334
[TBL] [Abstract][Full Text] [Related]
19. Retinal function in X-linked ocular albinism (OA1).
Nusinowitz S; Sarraf D
Curr Eye Res; 2008 Sep; 33(9):789-803. PubMed ID: 18798082
[TBL] [Abstract][Full Text] [Related]
20. Identification of a novel mutation in a Chinese family with X-linked ocular albinism.
Wang Y; Guo X; Wei A; Zhu W; Li W; Lian S
Eur J Ophthalmol; 2009; 19(1):124-8. PubMed ID: 19123159
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
