696 related articles for article (PubMed ID: 17980020)
41. Ophthalmological Manifestations of Oculocutaneous and Ocular Albinism: Current Perspectives.
Neveu MM; Padhy SK; Ramamurthy S; Takkar B; Jalali S; Cp D; Padhi TR; Robson AG
Clin Ophthalmol; 2022; 16():1569-1587. PubMed ID: 35637898
[TBL] [Abstract][Full Text] [Related]
42. 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]
43. Tyrosinase processing and intracellular trafficking is disrupted in mouse primary melanocytes carrying the underwhite (uw) mutation. A model for oculocutaneous albinism (OCA) type 4.
Costin GE; Valencia JC; Vieira WD; Lamoreux ML; Hearing VJ
J Cell Sci; 2003 Aug; 116(Pt 15):3203-12. PubMed ID: 12829739
[TBL] [Abstract][Full Text] [Related]
44. DNA variations in oculocutaneous albinism: an updated mutation list and current outstanding issues in molecular diagnostics.
Simeonov DR; Wang X; Wang C; Sergeev Y; Dolinska M; Bower M; Fischer R; Winer D; Dubrovsky G; Balog JZ; Huizing M; Hart R; Zein WM; Gahl WA; Brooks BP; Adams DR
Hum Mutat; 2013 Jun; 34(6):827-35. PubMed ID: 23504663
[TBL] [Abstract][Full Text] [Related]
45. Ophthalmo-genetic analysis of Pakistani patients with nonsyndromic oculocutaneous albinism through whole exome sequencing.
Gul H; Ali MZ; Khan E; Zubair M; Badar M; Khan S; Shah AH; Khan MA
J Pak Med Assoc; 2017 May; 67(5):790-792. PubMed ID: 28507374
[TBL] [Abstract][Full Text] [Related]
46. Oculocutaneous albinism with TYRP1 gene mutations in a Caucasian patient.
Rooryck C; Roudaut C; Robine E; Müsebeck J; Arveiler B
Pigment Cell Res; 2006 Jun; 19(3):239-42. PubMed ID: 16704458
[TBL] [Abstract][Full Text] [Related]
47. Exome sequencing identifies SLC24A5 as a candidate gene for nonsyndromic oculocutaneous albinism.
Wei AH; Zang DJ; Zhang Z; Liu XZ; He X; Yang L; Wang Y; Zhou ZY; Zhang MR; Dai LL; Yang XM; Li W
J Invest Dermatol; 2013 Jul; 133(7):1834-40. PubMed ID: 23364476
[TBL] [Abstract][Full Text] [Related]
48. Genotype-phenotype associations in Danish patients with ocular and oculocutaneous albinism.
Kessel L; Kjer B; Lei U; Duno M; Grønskov K
Ophthalmic Genet; 2021 Jun; 42(3):230-238. PubMed ID: 33612058
[TBL] [Abstract][Full Text] [Related]
49. Comprehensive analysis of oculocutaneous albinism among non-Hispanic caucasians shows that OCA1 is the most prevalent OCA type.
Hutton SM; Spritz RA
J Invest Dermatol; 2008 Oct; 128(10):2442-50. PubMed ID: 18463683
[TBL] [Abstract][Full Text] [Related]
50. Delineating the genetic heterogeneity of OCA in Hungarian patients.
Fábos B; Farkas K; Tóth L; Sulák A; Tripolszki K; Tihanyi M; Németh R; Vas K; Csoma Z; Kemény L; Széll M; Nagy N
Eur J Med Res; 2017 Jun; 22(1):20. PubMed ID: 28629449
[TBL] [Abstract][Full Text] [Related]
51. 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]
52. A comprehensive analysis reveals mutational spectra and common alleles in Chinese patients with oculocutaneous albinism.
Wei A; Wang Y; Long Y; Wang Y; Guo X; Zhou Z; Zhu W; Liu J; Bian X; Lian S; Li W
J Invest Dermatol; 2010 Mar; 130(3):716-24. PubMed ID: 19865097
[TBL] [Abstract][Full Text] [Related]
53. 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]
54. Genetic Variability in Slovenian Cohort of Patients with Oculocutaneous Albinism.
Hovnik T; Debeljak M; Tekavčič Pompe M; Bertok S; Battelino T; Stirn Kranjc B; Trebušak Podkrajšek K
Acta Chim Slov; 2021 Sep; 68(3):683-692. PubMed ID: 34897530
[TBL] [Abstract][Full Text] [Related]
55. Electron microscopic DOPA reaction test for oculocutaneous albinism.
Takizawa Y; Kato S; Matsunaga J; Aozaki R; Tomita Y; Nishikawa T; Shimizu H
Arch Dermatol Res; 2000 Jun; 292(6):301-5. PubMed ID: 10929771
[TBL] [Abstract][Full Text] [Related]
56. Genetic analysis of albinism caused by compound heterozygous mutations of the OCA2 gene in a Chinese family.
Wang Y; Chang Y; Gao M; Zang W; Liu X
Hereditas; 2024 Feb; 161(1):8. PubMed ID: 38317267
[TBL] [Abstract][Full Text] [Related]
57. [An overview of oculocutaneous albinism: TYR gene mutations in five Colombian individuals].
Sanabria D; Groot H; Guzmán J; Lattig MC
Biomedica; 2012 Jun; 32(2):269-76. PubMed ID: 23242301
[TBL] [Abstract][Full Text] [Related]
58. TYPES OF ALBINISM IN THE BLACK SOUTHERN AFRICA POPULATION.
Kromberg JG; Bothwell J; Kidson SH; Manga P; Kerr R; Jenkins T
East Afr Med J; 2012 Jan; 89(1):20-7. PubMed ID: 26845807
[TBL] [Abstract][Full Text] [Related]
59. Comprehensive analysis of spectral distribution of a large cohort of Chinese patients with non-syndromic oculocutaneous albinism facilitates genetic diagnosis.
Zhong Z; Gu L; Zheng X; Ma N; Wu Z; Duan J; Zhang J; Chen J
Pigment Cell Melanoma Res; 2019 Sep; 32(5):672-686. PubMed ID: 31077556
[TBL] [Abstract][Full Text] [Related]
60.
; ; . PubMed ID:
[No Abstract] [Full Text] [Related]
[Previous] [Next] [New Search]