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Items: 1 to 20 of 142

1.

Autosomal recessive ocular albinism associated with a functionally significant tyrosinase gene polymorphism.

Fukai K, Holmes SA, Lucchese NJ, Siu VM, Weleber RG, Schnur RE, Spritz RA.

Nat Genet. 1995 Jan;9(1):92-5.

PMID:
7704033
2.

A comprehensive genetic study of autosomal recessive ocular albinism in Caucasian patients.

Hutton SM, Spritz RA.

Invest Ophthalmol Vis Sci. 2008 Mar;49(3):868-72. doi: 10.1167/iovs.07-0791.

PMID:
18326704
3.

Apparent digenic inheritance of Waardenburg syndrome type 2 (WS2) and autosomal recessive ocular albinism (AROA).

Morell R, Spritz RA, Ho L, Pierpont J, Guo W, Friedman TB, Asher JH Jr.

Hum Mol Genet. 1997 May;6(5):659-64.

PMID:
9158138
4.

The R402Q tyrosinase variant does not cause autosomal recessive ocular albinism.

Oetting WS, Pietsch J, Brott MJ, Savage S, Fryer JP, Summers CG, King RA.

Am J Med Genet A. 2009 Mar;149A(3):466-9. doi: 10.1002/ajmg.a.32654.

PMID:
19208379
5.

Mutations of the P gene in oculocutaneous albinism, ocular albinism, and Prader-Willi syndrome plus albinism.

Lee ST, Nicholls RD, Bundey S, Laxova R, Musarella M, Spritz RA.

N Engl J Med. 1994 Feb 24;330(8):529-34.

6.

Sequence analysis of tyrosinase gene in ocular and oculocutaneous albinism patients: introducing three novel mutations.

Khordadpoor-Deilamani F, Akbari MT, Karimipoor M, Javadi G.

Mol Vis. 2015 Jul 10;21:730-5. eCollection 2015.

8.

R278TER and P431L mutations of the tyrosinase gene exist in Japanese patients with tyrosinase-negative oculocutaneous albinism.

Matsunaga J, Dakeishi M, Shimizu H, Tomita Y.

J Dermatol Sci. 1996 Nov;13(2):134-9.

PMID:
8953413
9.

Tyrosinase gene mutations in type I (tyrosinase-deficient) oculocutaneous albinism define two clusters of missense substitutions.

Tripathi RK, Strunk KM, Giebel LB, Weleber RG, Spritz RA.

Am J Med Genet. 1992 Jul 15;43(5):865-71.

PMID:
1642278
10.

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.

PMID:
10929771
11.

Mutation analysis of the tyrosinase gene in oculocutaneous albinism.

Camand O, Marchant D, Boutboul S, PĂ©quignot 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.

PMID:
11295837
12.

Diverse mutations of the P gene among African-Americans with type II (tyrosinase-positive) oculocutaneous albinism (OCA2).

Lee ST, Nicholls RD, Schnur RE, Guida LC, Lu-Kuo J, Spinner NB, Zackai EH, Spritz RA.

Hum Mol Genet. 1994 Nov;3(11):2047-51.

PMID:
7874125
13.

African origin of an intragenic deletion of the human P gene in tyrosinase positive oculocutaneous albinism.

Durham-Pierre D, Gardner JM, Nakatsu Y, King RA, Francke U, Ching A, Aquaron R, del Marmol V, Brilliant MH.

Nat Genet. 1994 Jun;7(2):176-9.

PMID:
7920637
14.

Mutations of the tyrosinase gene in Indo-Pakistani patients with type I (tyrosinase-deficient) oculocutaneous albinism (OCA).

Tripathi RK, Bundey S, Musarella MA, Droetto S, Strunk KM, Holmes SA, Spritz RA.

Am J Hum Genet. 1993 Dec;53(6):1173-9.

15.

Tyrosinase gene mutations associated with type IB ("yellow") oculocutaneous albinism.

Giebel LB, Tripathi RK, Strunk KM, Hanifin JM, Jackson CE, King RA, Spritz RA.

Am J Hum Genet. 1991 Jun;48(6):1159-67. Erratum in: Am J Hum Genet 1991 Sep;49(3):696.

16.

A novel mutation of the tyrosinase gene causing oculocutaneous albinism type 1 (OCA1).

Nakamura E, Miyamura Y, Matsunaga J, Kano Y, Dakeishi-Hara M, Tanita M, Kono M, Tomita Y.

J Dermatol Sci. 2002 Feb;28(2):102-5.

PMID:
11858948
17.

A frequent tyrosinase gene mutation in classic, tyrosinase-negative (type IA) oculocutaneous albinism.

Giebel LB, Strunk KM, King RA, Hanifin JM, Spritz RA.

Proc Natl Acad Sci U S A. 1990 May;87(9):3255-8.

18.

One-allele system in the Korean for MboI-RFLP in exon 1 of the human tyrosinase (TYR) gene.

Kim DK, Kang KH, Choi IJ.

J Dermatol Sci. 2000 Sep;24(1):1-3.

PMID:
10960773
19.

Novel mutations of the tyrosinase (TYR) gene in type I oculocutaneous albinism (OCA1).

Spritz RA, Oh J, Fukai K, Holmes SA, Ho L, Chitayat D, France TD, Musarella MA, Orlow SJ, Schnur RE, Weleber RG, Levin AV.

Hum Mutat. 1997;10(2):171-4. No abstract available.

PMID:
9259202
20.

Homozygous tyrosinase gene mutation in an American black with tyrosinase-negative (type IA) oculocutaneous albinism.

Spritz RA, Strunk KM, Hsieh CL, Sekhon GS, Francke U.

Am J Hum Genet. 1991 Feb;48(2):318-24.

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