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Results: 1 to 20 of 65

1.

Melanesian blond hair is caused by an amino acid change in TYRP1.

Kenny EE, Timpson NJ, Sikora M, Yee MC, Moreno-Estrada A, Eng C, Huntsman S, Burchard EG, Stoneking M, Bustamante CD, Myles S.

Science. 2012 May 4;336(6081):554. doi: 10.1126/science.1217849.

PMID:
22556244
[PubMed - indexed for MEDLINE]
Free PMC Article
2.

Molecular and clinical characterization of albinism in a large cohort of Italian patients.

Gargiulo A, Testa F, Rossi S, Di Iorio V, Fecarotta S, de Berardinis T, Iovine A, Magli A, Signorini S, Fazzi E, Galantuomo MS, Fossarello M, Montefusco S, Ciccodicola A, Neri A, Macaluso C, Simonelli F, Surace EM.

Invest Ophthalmol Vis Sci. 2011 Mar 14;52(3):1281-9. doi: 10.1167/iovs.10-6091. Print 2011 Mar.

PMID:
20861488
[PubMed - indexed for MEDLINE]
Free PMC Article
3.

Allelic variation of the FRMD7 gene in congenital idiopathic nystagmus.

Self JE, Shawkat F, Malpas CT, Thomas NS, Harris CM, Hodgkins PR, Chen X, Trump D, Lotery AJ.

Arch Ophthalmol. 2007 Sep;125(9):1255-63.

PMID:
17846367
[PubMed - indexed for MEDLINE]
4.

Distribution of two Asian-related coding SNPs in the MC1R and OCA2 genes.

Yuasa I, Umetsu K, Harihara S, Kido A, Miyoshi A, Saitou N, Dashnyam B, Jin F, Lucotte G, Chattopadhyay PK, Henke L, Henke J.

Biochem Genet. 2007 Aug;45(7-8):535-42. Epub 2007 Jun 15.

PMID:
17570052
[PubMed - indexed for MEDLINE]
5.

OCA2 481Thr, a hypofunctional allele in pigmentation, is characteristic of northeastern Asian populations.

Yuasa I, Umetsu K, Harihara S, Miyoshi A, Saitou N, Park KS, Dashnyam B, Jin F, Lucotte G, Chattopadhyay PK, Henke L, Henke J.

J Hum Genet. 2007;52(8):690-3. Epub 2007 Jun 14.

PMID:
17568986
[PubMed - indexed for MEDLINE]
6.

Prenatal diagnosis of oculocutaneous albinism type II and novel mutations in two Chinese families.

Hongyi L, Haiyun W, Hui Z, Qing W, Honglei D, Shu M, Weiying J.

Prenat Diagn. 2007 Jun;27(6):502-6.

PMID:
17385796
[PubMed - indexed for MEDLINE]
7.

A three-single-nucleotide polymorphism haplotype in intron 1 of OCA2 explains most human eye-color variation.

Duffy DL, Montgomery GW, Chen W, Zhao ZZ, Le L, James MR, Hayward NK, Martin NG, Sturm RA.

Am J Hum Genet. 2007 Feb;80(2):241-52. Epub 2006 Dec 20.

PMID:
17236130
[PubMed - indexed for MEDLINE]
Free PMC Article
8.

Signatures of positive selection in genes associated with human skin pigmentation as revealed from analyses of single nucleotide polymorphisms.

Lao O, de Gruijter JM, van Duijn K, Navarro A, Kayser M.

Ann Hum Genet. 2007 May;71(Pt 3):354-69. Epub 2007 Jan 18.

PMID:
17233754
[PubMed - indexed for MEDLINE]
9.

Genetic evidence for the convergent evolution of light skin in Europeans and East Asians.

Norton HL, Kittles RA, Parra E, McKeigue P, Mao X, Cheng K, Canfield VA, Bradley DG, McEvoy B, Shriver MD.

Mol Biol Evol. 2007 Mar;24(3):710-22. Epub 2006 Dec 20.

PMID:
17182896
[PubMed - indexed for MEDLINE]
Free Article
10.

Mutations in FRMD7, a newly identified member of the FERM family, cause X-linked idiopathic congenital nystagmus.

Tarpey P, Thomas S, Sarvananthan N, Mallya U, Lisgo S, Talbot CJ, Roberts EO, Awan M, Surendran M, McLean RJ, Reinecke RD, Langmann A, Lindner S, Koch M, Jain S, Woodruff G, Gale RP, Bastawrous A, Degg C, Droutsas K, Asproudis I, Zubcov AA, Pieh C, Veal CD, Machado RD, Backhouse OC, Baumber L, Constantinescu CS, Brodsky MC, Hunter DG, Hertle RW, Read RJ, Edkins S, O'Meara S, Parker A, Stevens C, Teague J, Wooster R, Futreal PA, Trembath RC, Stratton MR, Raymond FL, Gottlob I.

Nat Genet. 2006 Nov;38(11):1242-4. Epub 2006 Oct 1. Erratum in: Nat Genet. 2011 Jul;43(7):720. Bastawrous, Andrew [added].

PMID:
17013395
[PubMed - indexed for MEDLINE]
Free PMC Article
11.

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
[PubMed - indexed for MEDLINE]
12.

Albinism in Africa as a public health issue.

Hong ES, Zeeb H, Repacholi MH.

BMC Public Health. 2006 Aug 17;6:212.

PMID:
16916463
[PubMed - indexed for MEDLINE]
Free PMC Article
13.

Genetic testing for oculocutaneous albinism type 1 and 2 and Hermansky-Pudlak syndrome type 1 and 3 mutations in Puerto Rico.

Santiago Borrero PJ, Rodríguez-Pérez Y, Renta JY, Izquierdo NJ, Del Fierro L, Muñoz D, Molina NL, Ramírez S, Pagán-Mercado G, Ortíz I, Rivera-Caragol E, Spritz RA, Cadilla CL.

J Invest Dermatol. 2006 Jan;126(1):85-90.

PMID:
16417222
[PubMed - indexed for MEDLINE]
Free PMC Article
14.

Eye colour: portals into pigmentation genes and ancestry.

Sturm RA, Frudakis TN.

Trends Genet. 2004 Aug;20(8):327-32.

PMID:
15262401
[PubMed - indexed for MEDLINE]
15.

A genome scan for eye color in 502 twin families: most variation is due to a QTL on chromosome 15q.

Zhu G, Evans DM, Duffy DL, Montgomery GW, Medland SE, Gillespie NA, Ewen KR, Jewell M, Liew YW, Hayward NK, Sturm RA, Trent JM, Martin NG.

Twin Res. 2004 Apr;7(2):197-210.

PMID:
15169604
[PubMed - indexed for MEDLINE]
16.

Oculocutaneous albinism type 4 is one of the most common types of albinism in Japan.

Inagaki K, Suzuki T, Shimizu H, Ishii N, Umezawa Y, Tada J, Kikuchi N, Takata M, Takamori K, Kishibe M, Tanaka M, Miyamura Y, Ito S, Tomita Y.

Am J Hum Genet. 2004 Mar;74(3):466-71. Epub 2004 Feb 11.

PMID:
14961451
[PubMed - indexed for MEDLINE]
Free PMC Article
17.

Interactive effects of MC1R and OCA2 on melanoma risk phenotypes.

Duffy DL, Box NF, Chen W, Palmer JS, Montgomery GW, James MR, Hayward NK, Martin NG, Sturm RA.

Hum Mol Genet. 2004 Feb 15;13(4):447-61. Epub 2004 Jan 6.

PMID:
14709592
[PubMed - indexed for MEDLINE]
Free Article
18.

Sequences associated with human iris pigmentation.

Frudakis T, Thomas M, Gaskin Z, Venkateswarlu K, Chandra KS, Ginjupalli S, Gunturi S, Natrajan S, Ponnuswamy VK, Ponnuswamy KN.

Genetics. 2003 Dec;165(4):2071-83. Review.

PMID:
14704187
[PubMed - indexed for MEDLINE]
Free PMC Article
19.

What controls variation in human skin color?

Barsh GS.

PLoS Biol. 2003 Oct;1(1):E27. Epub 2003 Oct 13. No abstract available. Erratum in: PLoS Biol. 2003 Dec;1(3):445.

PMID:
14551921
[PubMed - indexed for MEDLINE]
Free PMC Article
20.

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
[PubMed - indexed for MEDLINE]
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