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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.

The role of optical coherence tomography in an atypical case of oculocutaneous albinism: a case report.

Rossi S, Testa F, Gargiulo A, Di Iorio V, Pierri RB, D'Alterio FM, Corte MD, Surace E, Simonelli F.

Case Rep Ophthalmol. 2012 Jan;3(1):113-7. doi: 10.1159/000337489. Epub 2012 Mar 27.

4.

Mutation spectrum of the TYR and SLC45A2 genes in patients with oculocutaneous albinism.

Ko JM, Yang JA, Jeong SY, Kim HJ.

Mol Med Rep. 2012 Apr;5(4):943-8. doi: 10.3892/mmr.2012.764. Epub 2012 Jan 25.

5.

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
6.

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.

7.

Informed reasoning: repositioning of nitisinone to treat oculocutaneous albinism.

Manga P, Orlow SJ.

J Clin Invest. 2011 Oct;121(10):3828-31. doi: 10.1172/JCI59763.

8.

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.

9.

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
10.

Molecular genetic studies and delineation of the oculocutaneous albinism phenotype in the Pakistani population.

Jaworek TJ, Kausar T, Bell SM, Tariq N, Maqsood MI, Sohail A, Ali M, Iqbal F, Rasool S, Riazuddin S, Shaikh RS, Ahmed ZM.

Orphanet J Rare Dis. 2012 Jun 26;7:44. doi: 10.1186/1750-1172-7-44.

11.

Oculocutaneous albinism type 1A: a case report.

Karaman A.

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

PMID:
19094851
12.

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
13.

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
14.

Oculocutaneous Albinism Type 2.

Lewis RA.

In: Pagon RA, Adam MP, Ardinger HH, Wallace SE, Amemiya A, Bean LJH, Bird TD, Fong CT, Mefford HC, Smith RJH, Stephens K, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2016.
2003 Jul 17 [updated 2012 Aug 16].

15.

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
16.

[Genetics of oculocutaneous albinism].

Zühlke C, Stell A, Käsmann-Kellner B.

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

PMID:
17646993
17.

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

Jeambrun P.

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

PMID:
9759297
18.

Oculocutaneous Albinism Type 4.

Suzuki T, Hayashi M.

In: Pagon RA, Adam MP, Ardinger HH, Wallace SE, Amemiya A, Bean LJH, Bird TD, Fong CT, Mefford HC, Smith RJH, Stephens K, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2016.
2005 Nov 17 [updated 2011 Sep 15].

19.

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.

20.

Oculocutaneous Albinism Type 1.

Lewis RA.

In: Pagon RA, Adam MP, Ardinger HH, Wallace SE, Amemiya A, Bean LJH, Bird TD, Fong CT, Mefford HC, Smith RJH, Stephens K, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2016.
2000 Jan 19 [updated 2013 May 16].

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