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Results: 1 to 20 of 70

1.

Functional characterization of two novel splicing mutations in the OCA2 gene associated with oculocutaneous albinism type II.

Rimoldi V, Straniero L, Asselta R, Mauri L, Manfredini E, Penco S, Gesu GP, Del Longo A, Piozzi E, Soldà G, Primignani P.

Gene. 2014 Mar 1;537(1):79-84. doi: 10.1016/j.gene.2013.11.102. Epub 2013 Dec 18.

PMID:
24361966
[PubMed - indexed for MEDLINE]
2.

Biology and genetics of oculocutaneous albinism and vitiligo - common pigmentation disorders in southern Africa.

Manga P, Kerr R, Ramsay M, Kromberg JG.

S Afr Med J. 2013 Jul 29;103(12 Suppl 1):984-8. doi: 10.7196/samj.7046.

PMID:
24300644
[PubMed - indexed for MEDLINE]
3.

High expression of glycolytic and pigment proteins is associated with worse clinical outcome in stage III melanoma.

Falkenius J, Lundeberg J, Johansson H, Tuominen R, Frostvik-Stolt M, Hansson J, Egyhazi Brage S.

Melanoma Res. 2013 Dec;23(6):452-60. doi: 10.1097/CMR.0000000000000027.

PMID:
24128789
[PubMed - indexed for MEDLINE]
4.

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
[PubMed - indexed for MEDLINE]
5.

Prediction of eye color in the Slovenian population using the IrisPlex SNPs.

Kastelic V, Pośpiech E, Draus-Barini J, Branicki W, Drobnič K.

Croat Med J. 2013 Aug;54(4):381-6.

PMID:
23986280
[PubMed - indexed for MEDLINE]
Free PMC Article
6.

Genetic analyses of the human eye colours using a novel objective method for eye colour classification.

Andersen JD, Johansen P, Harder S, Christoffersen SR, Delgado MC, Henriksen ST, Nielsen MM, Sørensen E, Ullum H, Hansen T, Dahl AL, Paulsen RR, Børsting C, Morling N.

Forensic Sci Int Genet. 2013 Sep;7(5):508-15. doi: 10.1016/j.fsigen.2013.05.003. Epub 2013 Jun 28.

PMID:
23948321
[PubMed - indexed for MEDLINE]
7.

Exploring signatures of positive selection in pigmentation candidate genes in populations of East Asian ancestry.

Hider JL, Gittelman RM, Shah T, Edwards M, Rosenbloom A, Akey JM, Parra EJ.

BMC Evol Biol. 2013 Jul 12;13:150. doi: 10.1186/1471-2148-13-150.

PMID:
23848512
[PubMed - indexed for MEDLINE]
Free PMC Article
8.

Improved eye- and skin-color prediction based on 8 SNPs.

Hart KL, Kimura SL, Mushailov V, Budimlija ZM, Prinz M, Wurmbach E.

Croat Med J. 2013 Jun;54(3):248-56.

PMID:
23771755
[PubMed - indexed for MEDLINE]
Free PMC Article
9.

Albinism in Europe.

Mártinez-García M, Montoliu L.

J Dermatol. 2013 May;40(5):319-24. doi: 10.1111/1346-8138.12170. Review.

PMID:
23668539
[PubMed - indexed for MEDLINE]
10.

The convergent evolution of blue iris pigmentation in primates took distinct molecular paths.

Meyer WK, Zhang S, Hayakawa S, Imai H, Przeworski M.

Am J Phys Anthropol. 2013 Jul;151(3):398-407. doi: 10.1002/ajpa.22280. Epub 2013 May 2.

PMID:
23640739
[PubMed - indexed for MEDLINE]
Free PMC Article
11.

Gender is a major factor explaining discrepancies in eye colour prediction based on HERC2/OCA2 genotype and the IrisPlex model.

Martinez-Cadenas C, Peña-Chilet M, Ibarrola-Villava M, Ribas G.

Forensic Sci Int Genet. 2013 Jul;7(4):453-60. doi: 10.1016/j.fsigen.2013.03.007. Epub 2013 Apr 16.

PMID:
23601698
[PubMed - indexed for MEDLINE]
12.

SNP model development for the prediction of eye colour in New Zealand.

Allwood JS, Harbison S.

Forensic Sci Int Genet. 2013 Jul;7(4):444-52. doi: 10.1016/j.fsigen.2013.03.005. Epub 2013 Apr 15.

PMID:
23597786
[PubMed - indexed for MEDLINE]
13.

Genetic architecture of skin and eye color in an African-European admixed population.

Beleza S, Johnson NA, Candille SI, Absher DM, Coram MA, Lopes J, Campos J, Araújo II, Anderson TM, Vilhjálmsson BJ, Nordborg M, Correia E Silva A, Shriver MD, Rocha J, Barsh GS, Tang H.

PLoS Genet. 2013 Mar;9(3):e1003372. doi: 10.1371/journal.pgen.1003372. Epub 2013 Mar 21.

PMID:
23555287
[PubMed - indexed for MEDLINE]
Free PMC Article
14.

Genome-wide association studies identify several new loci associated with pigmentation traits and skin cancer risk in European Americans.

Zhang M, Song F, Liang L, Nan H, Zhang J, Liu H, Wang LE, Wei Q, Lee JE, Amos CI, Kraft P, Qureshi AA, Han J.

Hum Mol Genet. 2013 Jul 15;22(14):2948-59. doi: 10.1093/hmg/ddt142. Epub 2013 Apr 1.

PMID:
23548203
[PubMed - indexed for MEDLINE]
Free PMC Article
15.

Genetic variants in PARP1 (rs3219090) and IRF4 (rs12203592) genes associated with melanoma susceptibility in a Spanish population.

Peña-Chilet M, Blanquer-Maceiras M, Ibarrola-Villava M, Martinez-Cadenas C, Martin-Gonzalez M, Gomez-Fernandez C, Mayor M, Aviles JA, Lluch A, Ribas G.

BMC Cancer. 2013 Mar 27;13:160. doi: 10.1186/1471-2407-13-160.

PMID:
23537197
[PubMed - indexed for MEDLINE]
Free PMC Article
16.

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.

Hum Mutat. 2013 Jun;34(6):827-35. doi: 10.1002/humu.22315. Epub 2013 Apr 30. Review.

PMID:
23504663
[PubMed - indexed for MEDLINE]
Free PMC Article
17.

Genetics of eye colours in different rural populations on the Silk Road.

Ulivi S, Mezzavilla M, Gasparini P.

Eur J Hum Genet. 2013 Nov;21(11):1320-3. doi: 10.1038/ejhg.2013.41. Epub 2013 Mar 13.

PMID:
23486544
[PubMed - indexed for MEDLINE]
18.

Exome sequencing identifies SLC24A5 as a candidate gene for nonsyndromic oculocutaneous albinism.

Wei AH, Zang DJ, Zhang Z, Liu XZ, He X, Yang L, Wang Y, Zhou ZY, Zhang MR, Dai LL, Yang XM, Li W.

J Invest Dermatol. 2013 Jul;133(7):1834-40. doi: 10.1038/jid.2013.49. Epub 2013 Jan 30.

PMID:
23364476
[PubMed - indexed for MEDLINE]
Free Article
19.

Genetic analyses of Chinese patients with digenic oculocutaneous albinism.

Wei AH, Yang XM, Lian S, Li W.

Chin Med J (Engl). 2013 Jan;126(2):226-30.

PMID:
23324268
[PubMed - indexed for MEDLINE]
Free Article
20.

Association of melanogenesis genes with skin color variation among Japanese females.

Abe Y, Tamiya G, Nakamura T, Hozumi Y, Suzuki T.

J Dermatol Sci. 2013 Feb;69(2):167-72. doi: 10.1016/j.jdermsci.2012.10.016. Epub 2012 Oct 30.

PMID:
23165166
[PubMed - indexed for MEDLINE]

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