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Items: 1 to 20 of 110

1.

Newborn with oculocutaneous albinism.

Beaudoin E, Hildebrand MP, Schmidt K.

J Pediatr Health Care. 2014 May-Jun;28(3):262-6. doi: 10.1016/j.pedhc.2013.08.002. Epub 2013 Oct 19. No abstract available.

PMID:
24145105
2.

Ophthalmic features of minimal pigment oculocutaneous albinism.

Summers CG, King RA.

Ophthalmology. 1994 May;101(5):906-14.

PMID:
8190479
3.

Albinism: an update.

Orlow SJ.

Semin Cutan Med Surg. 1997 Mar;16(1):24-9. Review.

PMID:
9125762
4.

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
5.

Correlation of visual acuity and ocular pigmentation with the 16-bp duplication in the HPS-1 gene of Hermansky-Pudlak syndrome, a form of albinism.

Iwata F, Reed GF, Caruso RC, Kuehl EM, Gahl WA, Kaiser-Kupfer MI.

Ophthalmology. 2000 Apr;107(4):783-9.

PMID:
10768343
6.

[Genetics of oculocutaneous albinism].

Zühlke C, Stell A, Käsmann-Kellner B.

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

PMID:
17646993
7.

[Prenatal diagnosis of oculocutaneous albinism type IV and discovery of a novel mutation].

Pang T, Lei J, Zheng H, Xu B, Jiang WY, Li HY.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2011 Feb;28(1):1-5. doi: 10.3760/cma.j.issn.1003-9406.2011.01.001. Chinese.

PMID:
21287499
8.

Prenatal molecular diagnosis of oculocutaneous albinism (OCA) in a large cohort of Israeli families.

Rosenmann A, Bejarano-Achache I, Eli D, Maftsir G, Mizrahi-Meissonnier L, Blumenfeld A.

Prenat Diagn. 2009 Oct;29(10):939-46. doi: 10.1002/pd.2317.

PMID:
19626598
9.

Oculocutaneous albinism.

Goldberg RA, Lally DR, Heier JS.

JAMA Ophthalmol. 2015 Mar;133(3):e143518. doi: 10.1001/jamaophthalmol.2014.3518. Epub 2015 Mar 12. No abstract available.

PMID:
25763554
10.

Mutation analysis in a family with oculocutaneous albinism manifesting in the same generation of three branches.

Preising MN, Forster H, Tan H, Lorenz B, de Jong PT, Plomp AS.

Mol Vis. 2007 Oct 2;13:1851-5.

PMID:
17960121
11.

SLC45A2 mutation frequency in Oculocutaneous Albinism Italian patients doesn't differ from other European studies.

Mauri L, Barone L, Al Oum M, Del Longo A, Piozzi E, Manfredini E, Stanzial F, Benedicenti F, Penco S, Patrosso MC.

Gene. 2014 Jan 1;533(1):398-402. doi: 10.1016/j.gene.2013.09.053. Epub 2013 Oct 3.

PMID:
24096233
13.

Albinism and its implications with vision.

Kirkwood BJ.

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

PMID:
19534229
14.

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
15.

A patient with subclinical oculocutaneous albinism type 2 diagnosed on getting severely sunburned.

Kawai M, Suzuki T, Ito S, Inagaki K, Suzuki N, Tomita Y.

Dermatology. 2005;210(4):322-3.

PMID:
15942220
16.

Mutational analysis of oculocutaneous albinism: a compact review.

Kamaraj B, Purohit R.

Biomed Res Int. 2014;2014:905472. doi: 10.1155/2014/905472. Epub 2014 Jun 29. Review.

17.

Correlation of visual acuity with foveal hypoplasia grading by optical coherence tomography in albinism.

Seo JH, Yu YS, Kim JH, Choung HK, Heo JW, Kim SJ.

Ophthalmology. 2007 Aug;114(8):1547-51. Epub 2007 Mar 6.

PMID:
17337060
18.

A unique case of a congenital diaphragmatic hernia in a boy with albinism.

Hussain N, Dawrant MJ, Firmin RK.

J Pediatr Surg. 2009 Dec;44(12):e21-2. doi: 10.1016/j.jpedsurg.2009.09.028.

PMID:
20005999
19.

Oculocutaneous albinism type 1A: a case report.

Karaman A.

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

PMID:
19094851
20.

Variable expression of vision in sibs with albinism.

Summers CG, Creel D, Townsend D, King RA.

Am J Med Genet. 1991 Sep 1;40(3):327-31.

PMID:
1951438

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