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Results: 1 to 20 of 103

Similar articles for PubMed (Select 23312576)

1.

MC1R gene mutation and its association with oculocutaneous albinism type (OCA) phenotype in a consanguineous Pakistani family.

Saleha SB, Ajaml M, Jamil M, Nasir M, Hameed A.

J Dermatol Sci. 2013 Apr;70(1):68-70. doi: 10.1016/j.jdermsci.2012.11.591. Epub 2012 Dec 7. No abstract available.

PMID:
23312576
3.

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.

4.

MC1R mutations modify the classic phenotype of oculocutaneous albinism type 2 (OCA2).

King RA, Willaert RK, Schmidt RM, Pietsch J, Savage S, Brott MJ, Fryer JP, Summers CG, Oetting WS.

Am J Hum Genet. 2003 Sep;73(3):638-45. Epub 2003 Jul 22.

5.

Mutations of the tyrosinase gene in Indo-Pakistani patients with type I (tyrosinase-deficient) oculocutaneous albinism (OCA).

Tripathi RK, Bundey S, Musarella MA, Droetto S, Strunk KM, Holmes SA, Spritz RA.

Am J Hum Genet. 1993 Dec;53(6):1173-9.

6.

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.

7.

[Identification of a novel pathogenic mutation in MATP gene with oculocutaneous albinism type IV from a consanguineous marriage family].

Xu B, Pang T, Yao CQ, Zhang LY, Zheng H, Jiang WY, Li HY.

Zhonghua Yi Xue Za Zhi. 2012 Jan 31;92(4):254-8. Chinese.

PMID:
22490798
8.

Analysis of MC1R variants in Indian oculocutaneous albinism patients: highlighting the risk of skin cancer among albinos.

Sengupta M, Sarkar D, Mondal M, Samanta S, Sil A, Ray K.

J Genet. 2013;92(2):305-8. No abstract available.

9.

Spectrum of candidate gene mutations associated with Indian familial oculocutaneous and ocular albinism.

Renugadevi K, Sil AK, Perumalsamy V, Sundaresan P.

Mol Vis. 2010 Aug 9;16:1514-24.

10.

Identification of novel TYR and TYRP1 mutations in oculocutaneous albinism.

Forshew T, Khaliq S, Tee L, Smith U, Johnson CA, Mehdi SQ, Maher ER.

Clin Genet. 2005 Aug;68(2):182-4. No abstract available.

PMID:
15996218
11.

Oculocutaneous albinism and consanguineous marriage among Spanish Gitanos or Calé--a study of 83 cases.

Gamella JF, Carrasco-Muñoz EM, Núñez Negrillo AM.

Coll Antropol. 2013 Sep;37(3):723-34.

PMID:
24308209
12.

[A novel P gene mutation in a Chinese family with oculocutaneous albinism].

Duan HL, Li HY, Wu WQ, Zheng H, Chen Z.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2006 Dec;23(6):614-7. Chinese.

PMID:
17160937
13.

Genetic studies of TYRP1 and SLC45A2 in Pakistani patients with nonsyndromic oculocutaneous albinism.

Kausar T, Jaworek TJ, Tariq N, Sadia S, Ali M, Shaikh RS, Ahmed ZM.

J Invest Dermatol. 2013 Apr;133(4):1099-102. doi: 10.1038/jid.2012.432. Epub 2012 Nov 29. No abstract available.

14.

A new genetic isolate with a unique phenotype of syndromic oculocutaneous albinism: clinical, molecular, and cellular characteristics.

Schreyer-Shafir N, Huizing M, Anikster Y, Nusinker Z, Bejarano-Achache I, Maftzir G, Resnik L, Helip-Wooley A, Westbroek W, Gradstein L, Rosenmann A, Blumenfeld A.

Hum Mutat. 2006 Nov;27(11):1158.

PMID:
17041891
15.
17.

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
18.

SLC45A2 variations in Indian oculocutaneous albinism patients.

Sengupta M, Chaki M, Arti N, Ray K.

Mol Vis. 2007 Aug 10;13:1406-11.

19.

Tyrosinase gene mutations associated with type IB ("yellow") oculocutaneous albinism.

Giebel LB, Tripathi RK, Strunk KM, Hanifin JM, Jackson CE, King RA, Spritz RA.

Am J Hum Genet. 1991 Jun;48(6):1159-67. Erratum in: Am J Hum Genet 1991 Sep;49(3):696.

20.

Oculocutaneous albinism with TYRP1 gene mutations in a Caucasian patient.

Rooryck C, Roudaut C, Robine E, Müsebeck J, Arveiler B.

Pigment Cell Res. 2006 Jun;19(3):239-42.

PMID:
16704458
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