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Items: 20

1.

Oculocutaneous albinism.

Grønskov K, Ek J, Brondum-Nielsen K.

Orphanet J Rare Dis. 2007 Nov 2;2:43. Review.

2.

Nitisinone improves eye and skin pigmentation defects in a mouse model of oculocutaneous albinism.

Onojafe IF, Adams DR, Simeonov DR, Zhang J, Chan CC, Bernardini IM, Sergeev YV, Dolinska MB, Alur RP, Brilliant MH, Gahl WA, Brooks BP.

J Clin Invest. 2011 Oct;121(10):3914-23. doi: 10.1172/JCI59372.

3.

Tyrosinase gene mutations in oculocutaneous albinism 1 (OCA1): definition of the phenotype.

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

Hum Genet. 2003 Nov;113(6):502-13. Epub 2003 Sep 10.

PMID:
13680365
4.

Homozygosity mapping and whole-exome sequencing to detect SLC45A2 and G6PC3 mutations in a single patient with oculocutaneous albinism and neutropenia.

Cullinane AR, Vilboux T, O'Brien K, Curry JA, Maynard DM, Carlson-Donohoe H, Ciccone C; NISC Comparative Sequencing Program, Markello TC, Gunay-Aygun M, Huizing M, Gahl WA.

J Invest Dermatol. 2011 Oct;131(10):2017-25. doi: 10.1038/jid.2011.157. Epub 2011 Jun 16.

5.

Oculocutaneous albinism type 3 (OCA3): analysis of two novel mutations in TYRP1 gene in two Chinese patients.

Zhang KH, Li Z, Lei J, Pang T, Xu B, Jiang WY, Li HY.

Cell Biochem Biophys. 2011 Dec;61(3):523-9. doi: 10.1007/s12013-011-9234-0.

PMID:
21739261
6.

Squamous-cell carcinoma in situ in a patient with oculocutaneous albinism.

Berger E, Hunt R, Tzu J, Patel R, Sanchez M.

Dermatol Online J. 2011 Oct 15;17(10):22. Review.

PMID:
22031648
7.

Oculocutaneous albinism type 1A: a case report.

Karaman A.

Dermatol Online J. 2008 Nov 15;14(11):13. Review.

PMID:
19094851
8.

Refractive profile in oculocutaneous albinism and its correlation with final visual outcome.

Yahalom C, Tzur V, Blumenfeld A, Greifner G, Eli D, Rosenmann A, Glanzer S, Anteby I.

Br J Ophthalmol. 2012 Apr;96(4):537-9. doi: 10.1136/bjophthalmol-2011-300072. Epub 2011 Dec 1.

PMID:
22133989
9.

Molecular analysis of Korean patients with oculocutaneous albinism.

Park SH, Chae H, Kim Y, Kim M.

Jpn J Ophthalmol. 2012 Jan;56(1):98-103. doi: 10.1007/s10384-011-0098-z. Epub 2011 Nov 1.

PMID:
22042571
10.

Oculocutaneous Albinism Type 2.

Lewis RA.

In: Pagon RA, Adam MP, Ardinger HH, Wallace SE, Amemiya A, Bean LJH, Bird TD, Ledbetter N, Mefford HC, Smith RJH, Stephens K, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2017.
2003 Jul 17 [updated 2012 Aug 16].

11.

Oculocutaneous albinism type 3: a Japanese girl with novel mutations in TYRP1 gene.

Yamada M, Sakai K, Hayashi M, Hozumi Y, Abe Y, Kawaguchi M, Ihn H, Suzuki T.

J Dermatol Sci. 2011 Dec;64(3):217-22. doi: 10.1016/j.jdermsci.2011.09.005. Epub 2011 Sep 24.

PMID:
21996312
12.

[Oculocutaneous albinism: clinical, historical and anthropological aspects].

Jeambrun P.

Arch Pediatr. 1998 Aug;5(8):896-907. Review. French.

PMID:
9759297
13.

[Genetics of oculocutaneous albinism].

Zühlke C, Stell A, Käsmann-Kellner B.

Ophthalmologe. 2007 Aug;104(8):674-80. Review. German.

PMID:
17646993
14.

Oculocutaneous Albinism Type 4.

Suzuki T, Hayashi M.

In: Pagon RA, Adam MP, Ardinger HH, Wallace SE, Amemiya A, Bean LJH, Bird TD, Ledbetter N, Mefford HC, Smith RJH, Stephens K, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2017.
2005 Nov 17 [updated 2011 Sep 15].

15.

Genetic testing for oculocutaneous albinism type 1 and 2 and Hermansky-Pudlak syndrome type 1 and 3 mutations in Puerto Rico.

Santiago Borrero PJ, Rodríguez-Pérez Y, Renta JY, Izquierdo NJ, Del Fierro L, Muñoz D, Molina NL, Ramírez S, Pagán-Mercado G, Ortíz I, Rivera-Caragol E, Spritz RA, Cadilla CL.

J Invest Dermatol. 2006 Jan;126(1):85-90.

16.

Oculocutaneous Albinism Type 1.

Lewis RA.

In: Pagon RA, Adam MP, Ardinger HH, Wallace SE, Amemiya A, Bean LJH, Bird TD, Ledbetter N, Mefford HC, Smith RJH, Stephens K, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2017.
2000 Jan 19 [updated 2013 May 16].

17.

A novel missense mutation of the TYR gene in a pedigree with oculocutaneous albinism type 1 from China.

Lin YY, Wei AH, Zhou ZY, Zhu W, He X, Lian S.

Chin Med J (Engl). 2011 Oct;124(20):3358-61.

PMID:
22088535
18.
19.

P gene mutations associated with oculocutaneous albinism type II (OCA2).

Oetting WS, Garrett SS, Brott M, King RA.

Hum Mutat. 2005 Mar;25(3):323.

PMID:
15712365
20.

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. Epub 2004 Feb 11.

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