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    Results: 1 to 20 of 64

    1.

    Angelman syndrome and severe infections in a patient with de novo 15q11.2-q13.1 deletion and maternally inherited 2q21.3 microdeletion.

    Neubert G, von Au K, Drossel K, Tzschach A, Horn D, Nickel R, Kaindl AM.

    Gene. 2013 Jan 10;512(2):453-5. doi: 10.1016/j.gene.2012.10.061. Epub 2012 Nov 1.

    PMID:
    23124039
    [PubMed - indexed for MEDLINE]
    2.

    Genome-wide association studies of quantitatively measured skin, hair, and eye pigmentation in four European populations.

    Candille SI, Absher DM, Beleza S, Bauchet M, McEvoy B, Garrison NA, Li JZ, Myers RM, Barsh GS, Tang H, Shriver MD.

    PLoS One. 2012;7(10):e48294. doi: 10.1371/journal.pone.0048294. Epub 2012 Oct 31.

    PMID:
    23118974
    [PubMed - indexed for MEDLINE]
    Free PMC Article
    3.

    Albinism and disease causing pathogens in Tanzania: are alleles that are associated with OCA2 being maintained by balancing selection?

    Tuli AM, Valenzuela RK, Kamugisha E, Brilliant MH.

    Med Hypotheses. 2012 Dec;79(6):875-8. doi: 10.1016/j.mehy.2012.09.013. Epub 2012 Oct 12.

    PMID:
    23063908
    [PubMed - indexed for MEDLINE]
    4.

    Comprehensive candidate gene study highlights UGT1A and BNC2 as new genes determining continuous skin color variation in Europeans.

    Jacobs LC, Wollstein A, Lao O, Hofman A, Klaver CC, Uitterlinden AG, Nijsten T, Kayser M, Liu F.

    Hum Genet. 2013 Feb;132(2):147-58. doi: 10.1007/s00439-012-1232-9. Epub 2012 Oct 11.

    PMID:
    23052946
    [PubMed - indexed for MEDLINE]
    5.

    Molecular basis of albinism in India: evaluation of seven potential candidate genes and some new findings.

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

    Gene. 2012 Dec 15;511(2):470-4. doi: 10.1016/j.gene.2012.09.012. Epub 2012 Sep 23.

    PMID:
    23010199
    [PubMed - indexed for MEDLINE]
    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.

    PMID:
    22734612
    [PubMed - indexed for MEDLINE]
    Free PMC Article
    7.

    Differential recognition of a dileucine-based sorting signal by AP-1 and AP-3 reveals a requirement for both BLOC-1 and AP-3 in delivery of OCA2 to melanosomes.

    Sitaram A, Dennis MK, Chaudhuri R, De Jesus-Rojas W, Tenza D, Setty SR, Wood CS, Sviderskaya EV, Bennett DC, Raposo G, Bonifacino JS, Marks MS.

    Mol Biol Cell. 2012 Aug;23(16):3178-92. Epub 2012 Jun 20.

    PMID:
    22718909
    [PubMed - indexed for MEDLINE]
    Free PMC Article
    8.

    Evaluation of genetic markers as instruments for Mendelian randomization studies on vitamin D.

    Berry DJ, Vimaleswaran KS, Whittaker JC, Hingorani AD, Hyppönen E.

    PLoS One. 2012;7(5):e37465. doi: 10.1371/journal.pone.0037465. Epub 2012 May 21.

    PMID:
    22629401
    [PubMed - indexed for MEDLINE]
    Free PMC Article
    9.

    A model-based approach for analysis of spatial structure in genetic data.

    Yang WY, Novembre J, Eskin E, Halperin E.

    Nat Genet. 2012 May 20;44(6):725-31. doi: 10.1038/ng.2285.

    PMID:
    22610118
    [PubMed - indexed for MEDLINE]
    10.

    Genome-wide association analyses identify 13 new susceptibility loci for generalized vitiligo.

    Jin Y, Birlea SA, Fain PR, Ferrara TM, Ben S, Riccardi SL, Cole JB, Gowan K, Holland PJ, Bennett DC, Luiten RM, Wolkerstorfer A, van der Veen JP, Hartmann A, Eichner S, Schuler G, van Geel N, Lambert J, Kemp EH, Gawkrodger DJ, Weetman AP, Taïeb A, Jouary T, Ezzedine K, Wallace MR, McCormack WT, Picardo M, Leone G, Overbeck A, Silverberg NB, Spritz RA.

    Nat Genet. 2012 May 6;44(6):676-80. doi: 10.1038/ng.2272.

    PMID:
    22561518
    [PubMed - indexed for MEDLINE]
    Free PMC Article
    11.

    HERC2 rs12913832 modulates human pigmentation by attenuating chromatin-loop formation between a long-range enhancer and the OCA2 promoter.

    Visser M, Kayser M, Palstra RJ.

    Genome Res. 2012 Mar;22(3):446-55. doi: 10.1101/gr.128652.111. Epub 2012 Jan 10.

    PMID:
    22234890
    [PubMed - indexed for MEDLINE]
    Free PMC Article
    12.

    Refractive profile in oculocutaneous albinism and its correlation with final visual outcome.

    Yahalom C, Tzur V, Blumenfeld A, Greifner G, Eli D, Rosenmann A, Glanzer S, Anteby I.

    Br J Ophthalmol. 2012 Apr;96(4):537-9. doi: 10.1136/bjophthalmol-2011-300072. Epub 2011 Dec 1.

    PMID:
    22133989
    [PubMed - indexed for MEDLINE]
    13.

    A global view of the OCA2-HERC2 region and pigmentation.

    Donnelly MP, Paschou P, Grigorenko E, Gurwitz D, Barta C, Lu RB, Zhukova OV, Kim JJ, Siniscalco M, New M, Li H, Kajuna SL, Manolopoulos VG, Speed WC, Pakstis AJ, Kidd JR, Kidd KK.

    Hum Genet. 2012 May;131(5):683-96. doi: 10.1007/s00439-011-1110-x. Epub 2011 Nov 8.

    PMID:
    22065085
    [PubMed - indexed for MEDLINE]
    Free PMC Article
    14.

    Molecular analysis of Korean patients with oculocutaneous albinism.

    Park SH, Chae H, Kim Y, Kim M.

    Jpn J Ophthalmol. 2012 Jan;56(1):98-103. doi: 10.1007/s10384-011-0098-z. Epub 2011 Nov 1.

    PMID:
    22042571
    [PubMed - indexed for MEDLINE]
    15.

    Genome-wide association study identifies novel loci predisposing to cutaneous melanoma.

    Amos CI, Wang LE, Lee JE, Gershenwald JE, Chen WV, Fang S, Kosoy R, Zhang M, Qureshi AA, Vattathil S, Schacherer CW, Gardner JM, Wang Y, Bishop DT, Barrett JH; GenoMEL Investigators, MacGregor S, Hayward NK, Martin NG, Duffy DL; Q-Mega Investigators, Mann GJ, Cust A, Hopper J; AMFS Investigators, Brown KM, Grimm EA, Xu Y, Han Y, Jing K, McHugh C, Laurie CC, Doheny KF, Pugh EW, Seldin MF, Han J, Wei Q.

    Hum Mol Genet. 2011 Dec 15;20(24):5012-23. doi: 10.1093/hmg/ddr415. Epub 2011 Sep 17.

    PMID:
    21926416
    [PubMed - indexed for MEDLINE]
    Free PMC Article
    16.

    Oculocutaneous albinism type 3 (OCA3): analysis of two novel mutations in TYRP1 gene in two Chinese patients.

    Zhang KH, Li Z, Lei J, Pang T, Xu B, Jiang WY, Li HY.

    Cell Biochem Biophys. 2011 Dec;61(3):523-9. doi: 10.1007/s12013-011-9234-0.

    PMID:
    21739261
    [PubMed - indexed for MEDLINE]
    17.

    Spread of X-chromosome inactivation into chromosome 15 is associated with Prader-Willi syndrome phenotype in a boy with a t(X;15)(p21.1;q11.2) translocation.

    Sakazume S, Ohashi H, Sasaki Y, Harada N, Nakanishi K, Sato H, Emi M, Endoh K, Sohma R, Kido Y, Nagai T, Kubota T.

    Hum Genet. 2012 Jan;131(1):121-30. doi: 10.1007/s00439-011-1051-4. Epub 2011 Jul 7.

    PMID:
    21735174
    [PubMed - indexed for MEDLINE]
    18.

    Inter-chromosomal variation in the pattern of human population genetic structure.

    Baye TM.

    Hum Genomics. 2011 May;5(4):220-40.

    PMID:
    21712187
    [PubMed - indexed for MEDLINE]
    Free PMC Article
    19.

    Gene expression and miR profiles of human corneal fibroblasts in response to dexamethasone.

    Liu L, Walker EA, Kissane S, Khan I, Murray PI, Rauz S, Wallace GR.

    Invest Ophthalmol Vis Sci. 2011 Sep 21;52(10):7282-8. doi: 10.1167/iovs.11-7463.

    PMID:
    21666241
    [PubMed - indexed for MEDLINE]
    Free Article
    20.

    Hexasomy of the Prader-Willi/Angelman critical region, including the OCA2 gene, in a patient with pigmentary dysplasia: case report.

    Kraoua L, Chaabouni M, Ewers E, Chelly I, Ouertani I, Ben Jemaa L, Maazoul F, Liehr T, Chaabouni H.

    Eur J Med Genet. 2011 Jul-Aug;54(4):e446-50. doi: 10.1016/j.ejmg.2011.04.007. Epub 2011 May 6.

    PMID:
    21621018
    [PubMed - indexed for MEDLINE]

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