These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

215 related articles for article (PubMed ID: 28629449)

  • 21. 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. PubMed ID: 23504663
    [TBL] [Abstract][Full Text] [Related]  

  • 22. Mutational spectrum of the TYR and SLC45A2 genes in Pakistani families with oculocutaneous albinism, and potential founder effect of missense substitution (p.Arg77Gln) of tyrosinase.
    Shah SA; Raheem N; Daud S; Mubeen J; Shaikh AA; Baloch AH; Nadeem A; Tayyab M; Babar ME; Ahmad J
    Clin Exp Dermatol; 2015 Oct; 40(7):774-80. PubMed ID: 25703744
    [TBL] [Abstract][Full Text] [Related]  

  • 23. Identification of P gene mutations in individuals with oculocutaneous albinism in sub-Saharan Africa.
    Kerr R; Stevens G; Manga P; Salm S; John P; Haw T; Ramsay M
    Hum Mutat; 2000; 15(2):166-72. PubMed ID: 10649493
    [TBL] [Abstract][Full Text] [Related]  

  • 24. Mutation Analysis of 63 Northwest Chinese Probands with Oculocutaneous Albinism.
    Chuan Z; Yan Y; Hao S; Zhang Q; Zhou B; Feng X; Wang X; Liu F; Zheng L; Cao Z; Ma X
    Curr Eye Res; 2021 Jan; 46(1):140-143. PubMed ID: 32552135
    [TBL] [Abstract][Full Text] [Related]  

  • 25. Identification of Five Novel Variants in Chinese Oculocutaneous Albinism by Targeted Next-Generation Sequencing.
    Qiu B; Ma T; Peng C; Zheng X; Yang J
    Genet Test Mol Biomarkers; 2018 Apr; 22(4):252-258. PubMed ID: 29437493
    [TBL] [Abstract][Full Text] [Related]  

  • 26. Comprehensive analysis of the molecular basis of oculocutaneous albinism in Indian patients lacking a mutation in the tyrosinase gene.
    Sengupta M; Mondal M; Jaiswal P; Sinha S; Chaki M; Samanta S; Ray K
    Br J Dermatol; 2010 Sep; 163(3):487-94. PubMed ID: 20426782
    [TBL] [Abstract][Full Text] [Related]  

  • 27. 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. PubMed ID: 22042571
    [TBL] [Abstract][Full Text] [Related]  

  • 28. [A new form of Oculocutaneous albinism, OCA4].
    Li HY; Duan HL; Zheng H
    Yi Chuan; 2006 Sep; 28(9):1149-52. PubMed ID: 16963427
    [TBL] [Abstract][Full Text] [Related]  

  • 29. Clinical and Mutation Spectrum of Autosomal Recessive Non-Syndromic Oculocutaneous Albinism (nsOCA) in Pakistan: A Review.
    Ullah MI
    Genes (Basel); 2022 Jun; 13(6):. PubMed ID: 35741834
    [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. Prenatal genotyping of four common oculocutaneous albinism genes in 51 Chinese families.
    Wei AH; Zang DJ; Zhang Z; Yang XM; Li W
    J Genet Genomics; 2015 Jun; 42(6):279-86. PubMed ID: 26165494
    [TBL] [Abstract][Full Text] [Related]  

  • 32. Mutations in the human orthologue of the mouse underwhite gene (uw) underlie a new form of oculocutaneous albinism, OCA4.
    Newton JM; Cohen-Barak O; Hagiwara N; Gardner JM; Davisson MT; King RA; Brilliant MH
    Am J Hum Genet; 2001 Nov; 69(5):981-8. PubMed ID: 11574907
    [TBL] [Abstract][Full Text] [Related]  

  • 33. Mutation spectrum of the TYR and SLC45A2 genes in patients with oculocutaneous albinism.
    Ko JM; Yang JA; Jeong SY; Kim HJ
    Mol Med Rep; 2012 Apr; 5(4):943-8. PubMed ID: 22294196
    [TBL] [Abstract][Full Text] [Related]  

  • 34. Identification of a Homozygous Missense Mutation in the TYR Gene in a Chinese Family with OCA1.
    Wang Y; Zhou YF; Shen N; Zhu YW; Tan K; Wang X
    Curr Med Sci; 2018 Oct; 38(5):932-936. PubMed ID: 30341532
    [TBL] [Abstract][Full Text] [Related]  

  • 35. 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]  

  • 36. 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; 7():44. PubMed ID: 22734612
    [TBL] [Abstract][Full Text] [Related]  

  • 37. Inheritance of a novel mutated allele of the OCA2 gene associated with high incidence of oculocutaneous albinism in a Polynesian community.
    Johanson HC; Chen W; Wicking C; Sturm RA
    J Hum Genet; 2010 Feb; 55(2):103-11. PubMed ID: 20019752
    [TBL] [Abstract][Full Text] [Related]  

  • 38. Mutation analysis of a Chinese family with oculocutaneous albinism.
    Wang X; Zhu Y; Shen N; Peng J; Wang C; Liu H; Lu Y
    Oncotarget; 2016 Dec; 7(51):84981-84988. PubMed ID: 27829221
    [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. 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. PubMed ID: 14961451
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 11.