BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

194 related articles for article (PubMed ID: 32552135)

  • 41. [A novel P gene mutation in a Chinese family with oculocutaneous albinism].
    Duan HL; Li HY; Wu WQ; Zheng H; Chen Z
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2006 Dec; 23(6):614-7. PubMed ID: 17160937
    [TBL] [Abstract][Full Text] [Related]  

  • 42. TYR mutation in a Chinese population with oculocutaneous albinism: Molecular characteristics and ophthalmic manifestations.
    Chen C; Li J; Wang B; Wang Y; Yu X
    Exp Eye Res; 2024 Feb; 239():109761. PubMed ID: 38145795
    [TBL] [Abstract][Full Text] [Related]  

  • 43. Unveiling genetics of non-syndromic albinism using whole exome sequencing: A comprehensive study of TYR, TYRP1, OCA2 and MC1R genes in 17 families.
    Zaman Q; Khan J; Ahmad M; Khan H; Chaudhary HT; Rehman G; Rahman OU; Shah MM; Hussain J; Jamal Q; Khan BT; Khan MA; Sadeeda ; Sahar K; Idrees M; Ahmad R; Faisal MS; Khan MI; Khisroon M; Abdulkareem AA; Lee E; Ryu SW; Bibi N; Muthaffar OY; Jelani M; Naseer MI
    Gene; 2024 Feb; 894():147986. PubMed ID: 37956964
    [TBL] [Abstract][Full Text] [Related]  

  • 44. Identification and characterization of the compound heterozygous variants of TYR gene in a northern Chinese family with Oculocutaneous albinism type 1.
    Si S; Jia X; Xu L; Qin Q; Wu J; Ji W; Dong K; Zhang X; Cao L; Wang H; Liu P; Wang R; Bai J; Fu S; Huang Y; Sun W
    Pigment Cell Melanoma Res; 2023 Nov; 36(6):472-480. PubMed ID: 37403904
    [TBL] [Abstract][Full Text] [Related]  

  • 45. Genetic analyses of Vietnamese patients with oculocutaneous albinism.
    Thuong MTH; Anh LTL; Nhung VP; Ngoc TTB; Lan HT; Phuong DK; Ha NH; Van Hai N; Ton ND
    J Clin Lab Anal; 2022 Sep; 36(9):e24625. PubMed ID: 35870188
    [TBL] [Abstract][Full Text] [Related]  

  • 46. [Spectrum of pathological genetic variants among 405 Chinese pedigrees affected with oculocutaneous albinism].
    Wang C; Chen C; Zhao X; Zhao G; Liu L; Kong X
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2020 Jul; 37(7):725-730. PubMed ID: 32619251
    [TBL] [Abstract][Full Text] [Related]  

  • 47. 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. PubMed ID: 13680365
    [TBL] [Abstract][Full Text] [Related]  

  • 48. A novel missense mutation of the TYR gene in a pedigree with oculocutaneous albinism type 1 from China.
    Lin YY; Wei AH; Zhou ZY; Zhu W; He X; Lian S
    Chin Med J (Engl); 2011 Oct; 124(20):3358-61. PubMed ID: 22088535
    [TBL] [Abstract][Full Text] [Related]  

  • 49. 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]  

  • 50. Identification of a novel mutation (p.Ile198Thr) in gene TYR in a Pakistani family with nonsyndromic oculocutaneous albinism.
    Shah SA; Din SU; Raheem N; Daud S; Mubeen J; Nadeem A; Tayyab M; Baloch DM; Babar ME; Ahmad J
    Clin Exp Dermatol; 2014 Jul; 39(5):646-8. PubMed ID: 24934919
    [TBL] [Abstract][Full Text] [Related]  

  • 51. A comprehensive genetic study of autosomal recessive ocular albinism in Caucasian patients.
    Hutton SM; Spritz RA
    Invest Ophthalmol Vis Sci; 2008 Mar; 49(3):868-72. PubMed ID: 18326704
    [TBL] [Abstract][Full Text] [Related]  

  • 52. Novel compound heterozygous mutations in OCA2 gene were identified in a Chinese family with oculocutaneous albinism.
    Jiang B; Zhang H; Kan Y; Gao X; Du Z; Liu Q
    Mol Genet Genomic Med; 2024 Jan; 12(1):e2297. PubMed ID: 37882226
    [TBL] [Abstract][Full Text] [Related]  

  • 53. [Prenatal diagnosis of oculocutaneous albinism type II and discovery of two novel mutations].
    Li HY; Wei HY; Zheng H; Meng S; Jiang WY; Chen LM; Duan HL
    Zhonghua Yi Xue Za Zhi; 2007 Apr; 87(16):1123-5. PubMed ID: 17672996
    [TBL] [Abstract][Full Text] [Related]  

  • 54. 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]  

  • 55. Identification of a missense mutation in the tyrosinase gene in a Chinese family with oculocutaneous albinism type 1.
    Lu Q; Yuan L; Xu H; Huang X; Yang Z; Yi J; Ni B; Chen Y; Deng H
    Mol Med Rep; 2017 Mar; 15(3):1426-1430. PubMed ID: 28112372
    [TBL] [Abstract][Full Text] [Related]  

  • 56. [Genetics of oculocutaneous albinism].
    Zühlke C; Stell A; Käsmann-Kellner B
    Ophthalmologe; 2007 Aug; 104(8):674-80. PubMed ID: 17646993
    [TBL] [Abstract][Full Text] [Related]  

  • 57. Mutational analysis of oculocutaneous albinism: a compact review.
    Kamaraj B; Purohit R
    Biomed Res Int; 2014; 2014():905472. PubMed ID: 25093188
    [TBL] [Abstract][Full Text] [Related]  

  • 58. Prevalent and novel mutations of the tyrosinase gene in Korean patients with tyrosinase-deficient oculocutaneous albinism.
    Park SK; Lee KH; Park KC; Lee JS; Spritz RA; Lee ST
    Mol Cells; 1997 Apr; 7(2):187-91. PubMed ID: 9163730
    [TBL] [Abstract][Full Text] [Related]  

  • 59. Oculocutaneous albinism and analysis of tyrosinase gene in Japanese patients.
    Tomita Y; Miyamura Y
    Nagoya J Med Sci; 1998 Oct; 61(3-4):97-102. PubMed ID: 9879192
    [TBL] [Abstract][Full Text] [Related]  

  • 60. Identification of two novel mutations in the SLC45A2 gene in a Hungarian pedigree affected by unusual OCA type 4.
    Tóth L; Fábos B; Farkas K; Sulák A; Tripolszki K; Széll M; Nagy N
    BMC Med Genet; 2017 Mar; 18(1):27. PubMed ID: 28298193
    [TBL] [Abstract][Full Text] [Related]  

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