7704033,18925668,19533789,19208379,18326704,23504663,9158138,666627,10766867,17952075,18488028,18488027[uid] - Search Results

Year	Number of Results
1978	1
1995	1
1997	1
2000	1
2007	1
2008	4
2009	2
2013	1
2024	0

1

Autosomal recessive ocular albinism associated with a functionally significant tyrosinase gene polymorphism.

Fukai K, Holmes SA, Lucchese NJ, Siu VM, Weleber RG, Schnur RE, Spritz RA. Fukai K, et al. Nat Genet. 1995 Jan;9(1):92-5. doi: 10.1038/ng0195-92. Nat Genet. 1995. PMID: 7704033

2

A new hypothesis of OCA1B.

Chiang PW, Drautz JM, Tsai AC, Spector E, Clericuzio CL. Chiang PW, et al. Am J Med Genet A. 2008 Nov 15;146A(22):2968-70. doi: 10.1002/ajmg.a.32539. Am J Med Genet A. 2008. PMID: 18925668 No abstract available.

3

Oculocutaneous albinism spectrum.

Chiang PW, Spector E, Tsai AC. Chiang PW, et al. Am J Med Genet A. 2009 Jul;149A(7):1590-1. doi: 10.1002/ajmg.a.32939. Am J Med Genet A. 2009. PMID: 19533789 No abstract available.

4

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. Oetting WS, et al. Am J Med Genet A. 2009 Mar;149A(3):466-9. doi: 10.1002/ajmg.a.32654. Am J Med Genet A. 2009. PMID: 19208379

5

A comprehensive genetic study of autosomal recessive ocular albinism in Caucasian patients.

Hutton SM, Spritz RA. Hutton SM, et al. Invest Ophthalmol Vis Sci. 2008 Mar;49(3):868-72. doi: 10.1167/iovs.07-0791. Invest Ophthalmol Vis Sci. 2008. PMID: 18326704

6

DNA variations in oculocutaneous albinism: an updated mutation list and current outstanding issues in molecular diagnostics.

Simeonov DR, Wang X, Wang C, Sergeev Y, Dolinska M, Bower M, Fischer R, Winer D, Dubrovsky G, Balog JZ, Huizing M, Hart R, Zein WM, Gahl WA, Brooks BP, Adams DR. Simeonov DR, et al. Hum Mutat. 2013 Jun;34(6):827-35. doi: 10.1002/humu.22315. Epub 2013 Apr 30. Hum Mutat. 2013. PMID: 23504663 Free PMC article. Review.

7

Apparent digenic inheritance of Waardenburg syndrome type 2 (WS2) and autosomal recessive ocular albinism (AROA).

Morell R, Spritz RA, Ho L, Pierpont J, Guo W, Friedman TB, Asher JH Jr. Morell R, et al. Hum Mol Genet. 1997 May;6(5):659-64. doi: 10.1093/hmg/6.5.659. Hum Mol Genet. 1997. PMID: 9158138

8

Heterogeneity in Waardenburg's syndrome. Report of a family with ocular albinism.

Bard LA. Bard LA. Arch Ophthalmol. 1978 Jul;96(7):1193-8. doi: 10.1001/archopht.1978.03910060027006. Arch Ophthalmol. 1978. PMID: 666627

9

A common temperature-sensitive allelic form of human tyrosinase is retained in the endoplasmic reticulum at the nonpermissive temperature.

Berson JF, Frank DW, Calvo PA, Bieler BM, Marks MS. Berson JF, et al. J Biol Chem. 2000 Apr 21;275(16):12281-9. doi: 10.1074/jbc.275.16.12281. J Biol Chem. 2000. PMID: 10766867 Free article.

10

Genetic determinants of hair, eye and skin pigmentation in Europeans.

Sulem P, Gudbjartsson DF, Stacey SN, Helgason A, Rafnar T, Magnusson KP, Manolescu A, Karason A, Palsson A, Thorleifsson G, Jakobsdottir M, Steinberg S, Pálsson S, Jonasson F, Sigurgeirsson B, Thorisdottir K, Ragnarsson R, Benediktsdottir KR, Aben KK, Kiemeney LA, Olafsson JH, Gulcher J, Kong A, Thorsteinsdottir U, Stefansson K. Sulem P, et al. Nat Genet. 2007 Dec;39(12):1443-52. doi: 10.1038/ng.2007.13. Epub 2007 Oct 21. Nat Genet. 2007. PMID: 17952075

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