BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

194 related articles for article (PubMed ID: 32552135)

  • 21. 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; 16():1514-24. PubMed ID: 20806075
    [TBL] [Abstract][Full Text] [Related]  

  • 22. [Genetic testing and prenatal diagnosis for thirteen Chinese pedigrees affected with oculocutaneous albinism].
    Yang Y; Mao B; Wang Q; Lie S; Zhang R; Zhao X
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2022 Feb; 39(2):143-147. PubMed ID: 35076908
    [TBL] [Abstract][Full Text] [Related]  

  • 23. 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. PubMed ID: 23324268
    [TBL] [Abstract][Full Text] [Related]  

  • 24. [Prenatal genetic diagnosis for two Chinese families affected with oculocutaneous albinism type Ⅱ].
    Hu H; Wang H; Jia Z; Xie Q
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2014 Aug; 31(4):424-7. PubMed ID: 25119903
    [TBL] [Abstract][Full Text] [Related]  

  • 25. 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. PubMed ID: 19060277
    [TBL] [Abstract][Full Text] [Related]  

  • 26. [Mutation analysis of two pedigrees with suspected oculocutaneous albinism].
    Ye H; Lan X; Qiao T; Xu W; Tang X; Yang Y; Zhang H
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2019 Mar; 36(3):212-216. PubMed ID: 30835348
    [TBL] [Abstract][Full Text] [Related]  

  • 27. Oculocutaneous albinism (OCA) in Colombia: first molecular screening of the TYR and OCA2 genes in South America.
    Urtatiz O; Sanabria D; Lattig MC
    J Dermatol Sci; 2014 Dec; 76(3):260-2. PubMed ID: 25455140
    [No Abstract]   [Full Text] [Related]  

  • 28. Genetic Causes of Oculocutaneous Albinism in Pakistani Population.
    Sajid Z; Yousaf S; Waryah YM; Mughal TA; Kausar T; Shahzad M; Rao AR; Abbasi AA; Shaikh RS; Waryah AM; Riazuddin S; Ahmed ZM
    Genes (Basel); 2021 Mar; 12(4):. PubMed ID: 33800529
    [TBL] [Abstract][Full Text] [Related]  

  • 29. Tyrosinase gene (TYR) mutations in Chinese patients with oculocutaneous albinism type 1.
    Liu J; Choy KW; Chan LW; Leung TY; Tam PO; Chiang SW; Lam DS; Pang CP; Lai TY
    Clin Exp Ophthalmol; 2010 Jan; 38(1):37-42. PubMed ID: 20447099
    [TBL] [Abstract][Full Text] [Related]  

  • 30. Comprehensive analysis of spectral distribution of a large cohort of Chinese patients with non-syndromic oculocutaneous albinism facilitates genetic diagnosis.
    Zhong Z; Gu L; Zheng X; Ma N; Wu Z; Duan J; Zhang J; Chen J
    Pigment Cell Melanoma Res; 2019 Sep; 32(5):672-686. PubMed ID: 31077556
    [TBL] [Abstract][Full Text] [Related]  

  • 31. 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; 52(3):1281-9. PubMed ID: 20861488
    [TBL] [Abstract][Full Text] [Related]  

  • 32. Oculocutaneous albinism (OCA) in Japanese patients: five novel mutations.
    Okamura K; Yoshizawa J; Abe Y; Hanaoka K; Higashi N; Togawa Y; Nakagawa S; Kambe N; Funasaka Y; Ohko K; Hozumi Y; Suzuki T
    J Dermatol Sci; 2014 May; 74(2):173-4. PubMed ID: 24461674
    [No Abstract]   [Full Text] [Related]  

  • 33. High-resolution array-CGH in patients with oculocutaneous albinism identifies new deletions of the TYR, OCA2, and SLC45A2 genes and a complex rearrangement of the OCA2 gene.
    Morice-Picard F; Lasseaux E; Cailley D; Gros A; Toutain J; Plaisant C; Simon D; François S; Gilbert-Dussardier B; Kaplan J; Rooryck C; Lacombe D; Arveiler B
    Pigment Cell Melanoma Res; 2014 Jan; 27(1):59-71. PubMed ID: 24118800
    [TBL] [Abstract][Full Text] [Related]  

  • 34. A comprehensive study of oculocutaneous albinism type 1 reveals three previously unidentified alleles on the TYR gene.
    Lin YY; Wei AH; He X; Zhou ZY; Lian S; Zhu W
    Eur J Dermatol; 2014; 24(2):168-73. PubMed ID: 24721949
    [TBL] [Abstract][Full Text] [Related]  

  • 35. Novel compound heterozygous mutations in OCA2 gene associated with non-syndromic oculocutaneous albinism in a Chinese Han patient: a case report.
    Wang H; Wan Y; Yang Y; Li H; Mao L; Gao S; Xu J; Wang J
    BMC Med Genet; 2019 Jul; 20(1):130. PubMed ID: 31345173
    [TBL] [Abstract][Full Text] [Related]  

  • 36. Identification of TYR mutations in patients with oculocutaneous albinism.
    Sun W; Shen Y; Shan S; Han L; Li Y; Zhou Z; Zhong Z; Chen J
    Mol Med Rep; 2018 Jun; 17(6):8409-8413. PubMed ID: 29658579
    [TBL] [Abstract][Full Text] [Related]  

  • 37. Delineating the genetic heterogeneity of OCA in Hungarian patients.
    Fábos B; Farkas K; Tóth L; Sulák A; Tripolszki K; Tihanyi M; Németh R; Vas K; Csoma Z; Kemény L; Széll M; Nagy N
    Eur J Med Res; 2017 Jun; 22(1):20. PubMed ID: 28629449
    [TBL] [Abstract][Full Text] [Related]  

  • 38. Identification of a functionally significant tri-allelic genotype in the Tyrosinase gene (TYR) causing hypomorphic oculocutaneous albinism (OCA1B).
    Norman CS; O'Gorman L; Gibson J; Pengelly RJ; Baralle D; Ratnayaka JA; Griffiths H; Rose-Zerilli M; Ranger M; Bunyan D; Lee H; Page R; Newall T; Shawkat F; Mattocks C; Ward D; Ennis S; Self JE
    Sci Rep; 2017 Jun; 7(1):4415. PubMed ID: 28667292
    [TBL] [Abstract][Full Text] [Related]  

  • 39. Genetic studies of multiple consanguineous Pakistani families segregating oculocutaneous albinism identified novel and reported mutations.
    Gul H; Shah AH; Harripaul R; Mikhailov A; Prajapati K; Khan E; Ullah F; Zubair M; Ali MZ; Shah AH; Salman S; Khan S; Vincent JB; Khan MA
    Ann Hum Genet; 2019 Jul; 83(4):278-284. PubMed ID: 30868578
    [TBL] [Abstract][Full Text] [Related]  

  • 40. Tyrosinase (TYR) gene sequencing and literature review reveals recurrent mutations and multiple population founder gene mutations as causative of oculocutaneous albinism (OCA) in Pakistani families.
    Shakil M; Harlalka GV; Ali S; Lin S; D'Atri I; Hussain S; Nasir A; Shahzad MA; Ullah MI; Self JE; Baple EL; Crosby AH; Mahmood S
    Eye (Lond); 2019 Aug; 33(8):1339-1346. PubMed ID: 30996339
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 10.