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Items: 1 to 20 of 145

1.

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

Jeambrun P.

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

PMID:
9759297
2.

Oculocutaneous albinism.

Okulicz JF, Shah RS, Schwartz RA, Janniger CK.

J Eur Acad Dermatol Venereol. 2003 May;17(3):251-6. Review.

PMID:
12702061
3.

[Genetics of oculocutaneous albinism].

Zühlke C, Stell A, Käsmann-Kellner B.

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

PMID:
17646993
4.

Albinism and its implications with vision.

Kirkwood BJ.

Insight. 2009 Apr-Jun;34(2):13-6. Review.

PMID:
19534229
5.

Oculocutaneous albinism type IV: A boy of Moroccan descent with a novel mutation in SLC45A2.

Konno T, Abe Y, Kawaguchi M, Storm K, Biervliet M, Courtens W, Kono M, Tomita Y, Suzuki T.

Am J Med Genet A. 2009 Aug;149A(8):1773-6. doi: 10.1002/ajmg.a.32964.

PMID:
19610114
6.

[Phenotype of the visual system in oculocutaneous and ocular albinism].

Käsmann-Kellner B, Seitz B.

Ophthalmologe. 2007 Aug;104(8):648-61. Review. German.

PMID:
17684749
7.

Oculocutaneous albinism type 1A: a case report.

Karaman A.

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

PMID:
19094851
8.

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
9.

Oculocutaneous albinism.

Grønskov K, Ek J, Brondum-Nielsen K.

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

10.

Albinism.

King RA, Summers CG.

Dermatol Clin. 1988 Apr;6(2):217-28. Review.

PMID:
3288382
11.

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. Erratum in: Hum Mutat 2000;16(1):following 86.

PMID:
10649493
12.

Albinism (OCA2) in Amerindians.

Woolf CM.

Am J Phys Anthropol. 2005;Suppl 41:118-40. Review.

PMID:
16369963
13.

Case report: a black and white twin.

Claas MJ, Timmermans A, Bruinse HW.

J Perinatol. 2010 Jun;30(6):434-6. doi: 10.1038/jp.2009.156.

PMID:
20508632
14.

Molecular genetics of oculocutaneous albinism.

Spritz RA.

Semin Dermatol. 1993 Sep;12(3):167-72. Review.

PMID:
8217557
15.

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
16.

Oculocutaneous albinism spectrum.

Chiang PW, Spector E, Tsai AC.

Am J Med Genet A. 2009 Jul;149A(7):1590-1. doi: 10.1002/ajmg.a.32939. No abstract available.

PMID:
19533789
17.

[Ocular albinism in pediatric patients with nystagmus].

Trzebicka A, Sarti G, Kocyła-Karczmarewicz B, Grałek M, Juszko J, Szapłyko W.

Klin Oczna. 2006;108(4-6):170-3. Polish.

PMID:
17019987
18.

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
19.

Dermatoscopy of pigmented melanocytic nevi in patients with oculocutaneous albinism.

Bakos RM, Argenziano G, Zalaudek I, Masiero NC, Zoratto G, Cartell A, Bakos L.

J Am Acad Dermatol. 2009 Mar;60(3):487-9. doi: 10.1016/j.jaad.2008.09.005.

PMID:
19231645
20.

Albinism: classification, clinical characteristics, and recent findings.

Summers CG.

Optom Vis Sci. 2009 Jun;86(6):659-62. doi: 10.1097/OPX.0b013e3181a5254c. Review.

PMID:
19390472

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