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Items: 1 to 20 of 87

1.

A new hypothesis of OCA1B.

Chiang PW, Drautz JM, Tsai AC, Spector E, Clericuzio CL.

Am J Med Genet A. 2008 Nov 15;146A(22):2968-70. doi: 10.1002/ajmg.a.32539. No abstract available.

PMID:
18925668
2.

P gene mutations in patients with oculocutaneous albinism and findings suggestive of Hermansky-Pudlak syndrome.

Garrison NA, Yi Z, Cohen-Barak O, Huizing M, Hartnell LM, Gahl WA, Brilliant MH.

J Med Genet. 2004 Jun;41(6):e86. No abstract available.

3.

Meningococccal meningitis and complement component 6 deficiency associated with oculocutaneous albinism.

Ikinciogullari A, Tekin M, Dogu F, Reisli I, Tanir G, Yi Z, Garrison N, Brilliant MH, Babacan E.

Eur J Pediatr. 2005 Mar;164(3):177-9. Epub 2004 Nov 23. No abstract available.

PMID:
15565285
4.

Two novel mutations detected in Japanese patients with oculocutaneous albinism.

Ito S, Suzuki T, Inagaki K, Suzuki N, Kono M, Tomita Y, Iwamoto T, Mochizuki N.

J Dermatol Sci. 2006 Nov;44(2):116-8. Epub 2006 Sep 27. No abstract available.

PMID:
17008060
5.

A Korean case of oculocutaneous albinism type IV caused by a D157N mutation in the MATP gene.

Suzuki T, Inagaki K, Fukai K, Obana A, Lee ST, Tomita Y.

Br J Dermatol. 2005 Jan;152(1):174-5. No abstract available.

PMID:
15656822
6.

A Chinese case of oculocutaneous albinism type 4 with two novel mutations.

Li H, Meng S, Zheng H, Wei H, Zhang Y.

Int J Dermatol. 2008 Nov;47(11):1198-201. doi: 10.1111/j.1365-4632.2008.03567.x. No abstract available.

PMID:
18986462
7.

A case of Asian Indian OCA3 patient.

Chiang PW, Spector E, Scheuerle A.

Am J Med Genet A. 2009 Jul;149A(7):1578-80. doi: 10.1002/ajmg.a.32930. No abstract available.

PMID:
19533799
8.

A novel mutation (delAACT) in the tyrosinase gene in a Cameroonian black with type 1A oculocutaneous albinism.

Badens C, Courrier S, Aquaron R.

J Dermatol Sci. 2006 May;42(2):121-4. Epub 2006 Mar 6. No abstract available.

PMID:
16517127
9.

A case of familial trichomegaly in association with oculocutaneous albinism type 1.

Ziakas NG, Jogiya A, Michaelides M.

Eye (Lond). 2004 Aug;18(8):863-4. No abstract available.

PMID:
14752500
10.

Four novel mutations of TYR gene in Chinese OCA1 patients.

Wang Y, Guo X, Li W, Lian S.

J Dermatol Sci. 2009 Jan;53(1):80-1. doi: 10.1016/j.jdermsci.2008.07.002. Epub 2008 Aug 12. No abstract available.

PMID:
18701257
11.

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
12.

Birth prevalence and mutation spectrum in danish patients with autosomal recessive albinism.

Grønskov K, Ek J, Sand A, Scheller R, Bygum A, Brixen K, Brondum-Nielsen K, Rosenberg T.

Invest Ophthalmol Vis Sci. 2009 Mar;50(3):1058-64. doi: 10.1167/iovs.08-2639. Epub 2008 Dec 5.

PMID:
19060277
13.

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
14.

[New nonsense mutation (p.E250X) in the tyrosinase gene of a patient with oculocutaneous albinism type 1A].

Aquaron R, Hesse S, Badens C, Bonerandi JJ.

Ann Dermatol Venereol. 2009 Jan;136(1):57-9. doi: 10.1016/j.annder.2008.07.060. Epub 2008 Dec 3. French. No abstract available.

PMID:
19171234
15.

Synergistic interaction of the OCA2 and OCA3 genes in a family.

Chiang PW, Fulton AB, Spector E, Hisama FM.

Am J Med Genet A. 2008 Sep 15;146A(18):2427-30. doi: 10.1002/ajmg.a.32453. No abstract available.

PMID:
18680187
16.

Gene symbol: TYR. Disease: Albinism, oculocutaneous 1.

Patrosso MC, Lando G, Penco S.

Hum Genet. 2008 Oct;124(3):294. No abstract available.

PMID:
18846608
17.

Molecular diagnosis of oculocutaneous albinism: new mutations in the OCA1-4 genes and practical aspects.

Rooryck C, Morice-Picard F, Elçioglu NH, Lacombe D, Taieb A, Arveiler B.

Pigment Cell Melanoma Res. 2008 Oct;21(5):583-7. doi: 10.1111/j.1755-148X.2008.00496.x. No abstract available.

PMID:
18821858
18.

Two novel splice mutations of P gene in a Thai-Chinese patient with oculocutaneous albinism type II (OCA2).

Wattanasirichaigoon D, Suwannarat P, Thongpradit S.

J Dermatol Sci. 2008 Jan;49(1):98-101. Epub 2007 Nov 26. No abstract available.

PMID:
18036783
19.

Temperature sensitive oculocutaneous albinism associated with missense changes in the tyrosinase gene.

Wang T, Waters CT, Jakins T, Yates JR, Trump D, Bradshaw K, Moore AT.

Br J Ophthalmol. 2005 Oct;89(10):1383-4. No abstract available.

20.

A splice site mutation is the cause of the high prevalence of oculocutaneous albinism type 2 in the Kuna population.

Carrasco A, Forbes EM, Jeambrun P, Brilliant MH.

Pigment Cell Melanoma Res. 2009 Oct;22(5):645-7. doi: 10.1111/j.1755-148X.2009.00575.x. Epub 2009 Apr 24. No abstract available.

PMID:
19397757

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