178 related articles for article (PubMed ID: 16868655)
1. Is autosomal recessive deafness associated with oculocutaneous albinism a "coincidence syndrome"?
Lezirovitz K; Nicastro FS; Pardono E; Abreu-Silva RS; Batissoco AC; Neustein I; Spinelli M; Mingroni-Netto RC
J Hum Genet; 2006; 51(8):716-720. PubMed ID: 16868655
[TBL] [Abstract][Full Text] [Related]
2. SLC45A2 variations in Indian oculocutaneous albinism patients.
Sengupta M; Chaki M; Arti N; Ray K
Mol Vis; 2007 Aug; 13():1406-11. PubMed ID: 17768386
[TBL] [Abstract][Full Text] [Related]
3. 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]
4. Mutations in the human orthologue of the mouse underwhite gene (uw) underlie a new form of oculocutaneous albinism, OCA4.
Newton JM; Cohen-Barak O; Hagiwara N; Gardner JM; Davisson MT; King RA; Brilliant MH
Am J Hum Genet; 2001 Nov; 69(5):981-8. PubMed ID: 11574907
[TBL] [Abstract][Full Text] [Related]
5. Oculocutaneous albinism type 4 is one of the most common types of albinism in Japan.
Inagaki K; Suzuki T; Shimizu H; Ishii N; Umezawa Y; Tada J; Kikuchi N; Takata M; Takamori K; Kishibe M; Tanaka M; Miyamura Y; Ito S; Tomita Y
Am J Hum Genet; 2004 Mar; 74(3):466-71. PubMed ID: 14961451
[TBL] [Abstract][Full Text] [Related]
6. Mutations in the MATP gene in five German patients affected by oculocutaneous albinism type 4.
Rundshagen U; Zühlke C; Opitz S; Schwinger E; Käsmann-Kellner B
Hum Mutat; 2004 Feb; 23(2):106-110. PubMed ID: 14722913
[TBL] [Abstract][Full Text] [Related]
7. SLC45A2 mutation frequency in Oculocutaneous Albinism Italian patients doesn't differ from other European studies.
Mauri L; Barone L; Al Oum M; Del Longo A; Piozzi E; Manfredini E; Stanzial F; Benedicenti F; Penco S; Patrosso MC
Gene; 2014 Jan; 533(1):398-402. PubMed ID: 24096233
[TBL] [Abstract][Full Text] [Related]
8. Identification of P gene mutations in individuals with oculocutaneous albinism in sub-Saharan Africa.
Kerr R; Stevens G; Manga P; Salm S; John P; Haw T; Ramsay M
Hum Mutat; 2000; 15(2):166-72. PubMed ID: 10649493
[TBL] [Abstract][Full Text] [Related]
9. Mutational Analysis of TYR, OCA2, and SLC45A2 Genes in Chinese Families with Oculocutaneous Albinism.
Lin Y; Chen X; Yang Y; Che F; Zhang S; Yuan L; Wu Y
Mol Genet Genomic Med; 2019 Jul; 7(7):e00687. PubMed ID: 31199599
[TBL] [Abstract][Full Text] [Related]
10. Mutational spectrum of the TYR and SLC45A2 genes in Pakistani families with oculocutaneous albinism, and potential founder effect of missense substitution (p.Arg77Gln) of tyrosinase.
Shah SA; Raheem N; Daud S; Mubeen J; Shaikh AA; Baloch AH; Nadeem A; Tayyab M; Babar ME; Ahmad J
Clin Exp Dermatol; 2015 Oct; 40(7):774-80. PubMed ID: 25703744
[TBL] [Abstract][Full Text] [Related]
11. Genetic Causes of Oculocutaneous Albinism in Pakistani Population.
Sajid Z; Yousaf S; Waryah YM; Mughal TA; Kausar T; Shahzad M; Rao AR; Abbasi AA; Shaikh RS; Waryah AM; Riazuddin S; Ahmed ZM
Genes (Basel); 2021 Mar; 12(4):. PubMed ID: 33800529
[TBL] [Abstract][Full Text] [Related]
12. Mutational Analysis of TYR, OCA2, SLC45A2, and TYRP1 Genes Identifies Novel and Reported Mutations in Chinese Families with Oculocutaneous Albinism.
Xu B; Chen X; Li H
Altern Ther Health Med; 2023 Oct; 29(7):278-283. PubMed ID: 37471664
[TBL] [Abstract][Full Text] [Related]
13. Spectrum of candidate gene mutations associated with Indian familial oculocutaneous and ocular albinism.
Renugadevi K; Sil AK; Perumalsamy V; Sundaresan P
Mol Vis; 2010 Aug; 16():1514-24. PubMed ID: 20806075
[TBL] [Abstract][Full Text] [Related]
14. Mutation analysis of a Chinese family with oculocutaneous albinism.
Wang X; Zhu Y; Shen N; Peng J; Wang C; Liu H; Lu Y
Oncotarget; 2016 Dec; 7(51):84981-84988. PubMed ID: 27829221
[TBL] [Abstract][Full Text] [Related]
15. Clinical and Mutation Spectrum of Autosomal Recessive Non-Syndromic Oculocutaneous Albinism (nsOCA) in Pakistan: A Review.
Ullah MI
Genes (Basel); 2022 Jun; 13(6):. PubMed ID: 35741834
[TBL] [Abstract][Full Text] [Related]
16. [A new form of Oculocutaneous albinism, OCA4].
Li HY; Duan HL; Zheng H
Yi Chuan; 2006 Sep; 28(9):1149-52. PubMed ID: 16963427
[TBL] [Abstract][Full Text] [Related]
17. Genetic analyses of Chinese patients with digenic oculocutaneous albinism.
Wei AH; Yang XM; Lian S; Li W
Chin Med J (Engl); 2013 Jan; 126(2):226-30. PubMed ID: 23324268
[TBL] [Abstract][Full Text] [Related]
18. Functional characterization of two novel splicing mutations in the OCA2 gene associated with oculocutaneous albinism type II.
Rimoldi V; Straniero L; Asselta R; Mauri L; Manfredini E; Penco S; Gesu GP; Del Longo A; Piozzi E; Soldà G; Primignani P
Gene; 2014 Mar; 537(1):79-84. PubMed ID: 24361966
[TBL] [Abstract][Full Text] [Related]
19. Current landscape of Oculocutaneous Albinism in Japan.
Okamura K; Suzuki T
Pigment Cell Melanoma Res; 2021 Mar; 34(2):190-203. PubMed ID: 32969595
[TBL] [Abstract][Full Text] [Related]
20. Mutational analysis of oculocutaneous albinism: a compact review.
Kamaraj B; Purohit R
Biomed Res Int; 2014; 2014():905472. PubMed ID: 25093188
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]