339 related articles for article (PubMed ID: 16570240)
1. Rapid genetic analysis of oculocutaneous albinism (OCA1) using denaturing high performance liquid chromatography (DHPLC) system.
Lin SY; Chien SC; Su YN; Lee CN; Chen CP
Prenat Diagn; 2006 May; 26(5):466-70. PubMed ID: 16570240
[TBL] [Abstract][Full Text] [Related]
2. [Prenatal diagnosis of oculocutaneous albinism type II and discovery of two novel mutations].
Li HY; Wei HY; Zheng H; Meng S; Jiang WY; Chen LM; Duan HL
Zhonghua Yi Xue Za Zhi; 2007 Apr; 87(16):1123-5. PubMed ID: 17672996
[TBL] [Abstract][Full Text] [Related]
3. Prenatal molecular diagnosis of oculocutaneous albinism (OCA) in a large cohort of Israeli families.
Rosenmann A; Bejarano-Achache I; Eli D; Maftsir G; Mizrahi-Meissonnier L; Blumenfeld A
Prenat Diagn; 2009 Oct; 29(10):939-46. PubMed ID: 19626598
[TBL] [Abstract][Full Text] [Related]
4. [Mutation screening of the TYR and P gene in three patients with oculocutaneous albinism].
Dai C; Li W; Gao B; Li LY; Lu GX
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2008 Aug; 25(4):373-7. PubMed ID: 18683130
[TBL] [Abstract][Full Text] [Related]
5. Genetic analysis of oculocutaneous albinism type 1 (OCA1) in Indian families: two novel frameshift mutations in the TYR Gene.
Sundaresan P; Sil AK; Philp AR; Randolph MA; Natchiar G; Namperumalsamy P
Mol Vis; 2004 Dec; 10():1005-10. PubMed ID: 15635296
[TBL] [Abstract][Full Text] [Related]
6. [Prenatal gene diagnosis of oculocutaneous albinism type I].
Li HY; Wu WI; Zheng H; Duan HL; Chen Z; Chen LM
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2006 Jun; 23(3):280-2. PubMed ID: 16767664
[TBL] [Abstract][Full Text] [Related]
7. [Early prenatal genetic diagnosis of oculocutaneous albinism type I in seven families].
Wu Q; Shi HR; Liu N; Lu N; Jiang M; Zhao ZH; Kong XD
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2012 Aug; 29(4):377-81. PubMed ID: 22875490
[TBL] [Abstract][Full Text] [Related]
8. Birth prevalence and mutation spectrum in danish patients with autosomal recessive albinism.
Grønskov K; Ek J; Sand A; Scheller R; Bygum A; Brixen K; Brondum-Nielsen K; Rosenberg T
Invest Ophthalmol Vis Sci; 2009 Mar; 50(3):1058-64. PubMed ID: 19060277
[TBL] [Abstract][Full Text] [Related]
9. Denaturing high-performance liquid chromatography (DHPLC)-based prenatal diagnosis for tuberous sclerosis.
Bénit P; Bonnefont JP; Kara Mostefa A; Francannet C; Munnich A; Ray PF
Prenat Diagn; 2001 Apr; 21(4):279-83. PubMed ID: 11288117
[TBL] [Abstract][Full Text] [Related]
10. Detection of 53 novel DNA variations within the tyrosinase gene and accumulation of mutations in 17 patients with albinism.
Opitz S; Käsmann-Kellner B; Kaufmann M; Schwinger E; Zühlke C
Hum Mutat; 2004 Jun; 23(6):630-1. PubMed ID: 15146472
[TBL] [Abstract][Full Text] [Related]
11. OCA1 in different ethnic groups of india is primarily due to founder mutations in the tyrosinase gene.
Chaki M; Sengupta M; Mukhopadhyay A; Subba Rao I; Majumder PP; Das M; Samanta S; Ray K
Ann Hum Genet; 2006 Sep; 70(Pt 5):623-30. PubMed ID: 16907708
[TBL] [Abstract][Full Text] [Related]
12. Detection of alpha-galactosidase a mutations causing Fabry disease by denaturing high performance liquid chromatography.
Shabbeer J; Robinson M; Desnick RJ
Hum Mutat; 2005 Mar; 25(3):299-305. PubMed ID: 15712228
[TBL] [Abstract][Full Text] [Related]
13. Rapid prenatal diagnosis of X-linked chronic granulomatous disease using a denaturing high-performance liquid chromatography (DHPLC) system.
Chien SC; Lee CN; Hung CC; Tsao PN; Su YN; Hsieh FJ
Prenat Diagn; 2003 Dec; 23(13):1092-6. PubMed ID: 14691999
[TBL] [Abstract][Full Text] [Related]
14. Molecular basis of type I (tyrosinase-related) oculocutaneous albinism: mutations and polymorphisms of the human tyrosinase gene.
Oetting WS; King RA
Hum Mutat; 1993; 2(1):1-6. PubMed ID: 8477259
[TBL] [Abstract][Full Text] [Related]
15. Mutation analysis of the tyrosinase gene in oculocutaneous albinism.
Camand O; Marchant D; Boutboul S; Péquignot M; Odent S; Dollfus H; Sutherland J; Levin A; Menasche M; Marsac C; Dufier JL; Heon E; Abitbol M
Hum Mutat; 2001 Apr; 17(4):352. PubMed ID: 11295837
[TBL] [Abstract][Full Text] [Related]
16. Higher prevalence of OCA1 in an ethnic group of eastern India is due to a founder mutation in the tyrosinase gene.
Chaki M; Mukhopadhyay A; Chatterjee S; Das M; Samanta S; Ray K
Mol Vis; 2005 Jul; 11():531-4. PubMed ID: 16056219
[TBL] [Abstract][Full Text] [Related]
17. Rapid detection of beta-globin gene (HBB) mutations coupling heteroduplex and primer-extension analysis by DHPLC.
Su YN; Lee CN; Hung CC; Chen CA; Cheng WF; Tsao PN; Yu CL; Hsieh FJ
Hum Mutat; 2003 Oct; 22(4):326-36. PubMed ID: 12955718
[TBL] [Abstract][Full Text] [Related]
18. [Rapid genetic prenatal diagnosis for achondroplasia].
Zhu HY; Yang Y; Li J; Ru T; Hu YL
Zhonghua Fu Chan Ke Za Zhi; 2008 Nov; 43(11):810-3. PubMed ID: 19087561
[TBL] [Abstract][Full Text] [Related]
19. A comprehensive study of oculocutaneous albinism type 1 reveals three previously unidentified alleles on the TYR gene.
Lin YY; Wei AH; He X; Zhou ZY; Lian S; Zhu W
Eur J Dermatol; 2014; 24(2):168-73. PubMed ID: 24721949
[TBL] [Abstract][Full Text] [Related]
20. [A de novo mutation of P gene causes oculocutaneous albinism type 2 with prenatal diagnosis].
Zhang L; Xu B; Zhong Y; Chen X; Zheng H; Jiang W; Li H
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2013 Jun; 30(3):318-21. PubMed ID: 23744323
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]