BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

61 related articles for article (PubMed ID: 24118800)

  • 1. 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]  

  • 2. Mutational Analysis of TYR, OCA2, SLC45A2, and TYRP1 Genes Identifies Novel and Reported Mutations in Chinese Families with Oculocutaneous Albinism.
    Xu B; Chen X; Li H
    Altern Ther Health Med; 2023 Oct; 29(7):278-283. PubMed ID: 37471664
    [TBL] [Abstract][Full Text] [Related]  

  • 3. 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]  

  • 4. 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]  

  • 5. 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]  

  • 6. In Southern Africa, brown oculocutaneous albinism (BOCA) maps to the OCA2 locus on chromosome 15q: P-gene mutations identified.
    Manga P; Kromberg J; Turner A; Jenkins T; Ramsay M
    Am J Hum Genet; 2001 Mar; 68(3):782-7. PubMed ID: 11179026
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Report of a novel OCA2 gene mutation and an investigation of OCA2 variants on melanoma risk in a familial melanoma pedigree.
    Hawkes JE; Cassidy PB; Manga P; Boissy RE; Goldgar D; Cannon-Albright L; Florell SR; Leachman SA
    J Dermatol Sci; 2013 Jan; 69(1):30-7. PubMed ID: 23103111
    [TBL] [Abstract][Full Text] [Related]  

  • 8. The molecular landscape of oculocutaneous albinism in India and its therapeutic implications.
    Kohli S; Saxena R; Puri RD; Bijarnia Mahay S; Pal S; Dubey S; Arora V; Verma I
    Eur J Hum Genet; 2023 Nov; ():. PubMed ID: 38030918
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Genetic analysis of albinism caused by compound heterozygous mutations of the OCA2 gene in a Chinese family.
    Wang Y; Chang Y; Gao M; Zang W; Liu X
    Hereditas; 2024 Feb; 161(1):8. PubMed ID: 38317267
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Oculocutaneous albinism type 4: Novel compound heterozygous mutations in the SLC45A2 gene in a Chinese case.
    He D; Liu X; Yao T; Hu J; Zheng X; Tang L; Fan X
    Mol Genet Genomic Med; 2024 Feb; 12(2):e2385. PubMed ID: 38337174
    [TBL] [Abstract][Full Text] [Related]  

  • 11. The Slc45a4 Gene Regulates Pigmentation in a Manner Distinct from that of the OCA4 Gene Slc45a2.
    Brito S; Heo H; Cha B; Lee SH; Park G; Kwak BM; Seong JK; Lee H; Park JH; Weon BM; Bin BH
    J Invest Dermatol; 2024 Mar; 144(3):720-722.e5. PubMed ID: 37775036
    [No Abstract]   [Full Text] [Related]  

  • 12. Genotypic spectrum of albinism in Mali.
    Diallo M; Sylla O; Sidibé MK; Plaisant C; Mercier E; Sequeira A; Javerzat S; Hadid A; Lasseaux E; Michaud V; Arveiler B
    Pigment Cell Melanoma Res; 2024 May; ():. PubMed ID: 38720644
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Identification of Candidate Genes for Red-Eyed (Albinism) Domestic Guppies Using Genomic and Transcriptomic Analyses.
    Chang Y; Wu S; Li J; Bao H; Wu C
    Int J Mol Sci; 2024 Feb; 25(4):. PubMed ID: 38396851
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Genetic analyses of oculocutaneous albinism types 1 and 2 with four novel mutations.
    Yang Q; Yi S; Li M; Xie B; Luo J; Wang J; Rong X; Zhang Q; Qin Z; Hang L; Feng S; Fan X
    BMC Med Genet; 2019 Jun; 20(1):106. PubMed ID: 31196117
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Identification and characterization of two novel noncoding tyrosinase (TYR) gene variants leading to oculocutaneous albinism type 1.
    Li C; Chen Q; Wu J; Ren J; Zhang M; Wang H; Li J; Tang Y
    J Biol Chem; 2022 May; 298(5):101922. PubMed ID: 35413289
    [TBL] [Abstract][Full Text] [Related]  

  • 16. A custom capture sequence approach for oculocutaneous albinism identifies structural variant alleles at the OCA2 locus.
    Loftus SK; Lundh L; Watkins-Chow DE; Baxter LL; Pairo-Castineira E; Nisc Comparative Sequencing Program ; Jackson IJ; Oetting WS; Pavan WJ; Adams DR
    Hum Mutat; 2021 Oct; 42(10):1239-1253. PubMed ID: 34246199
    [TBL] [Abstract][Full Text] [Related]  

  • 17. The genetics of aniridia - simple things become complicated.
    Wawrocka A; Krawczynski MR
    J Appl Genet; 2018 May; 59(2):151-159. PubMed ID: 29460221
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Retrospective analysis in oculocutaneous albinism patients for the 2.7 kb deletion in the
    Gao J; D'Souza L; Wetherby K; Antolik C; Reeves M; Adams DR; Tumminia S; Wang X
    Cell Biosci; 2017; 7():22. PubMed ID: 28451379
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Improving molecular diagnosis of aniridia and WAGR syndrome using customized targeted array-based CGH.
    Blanco-Kelly F; Palomares M; Vallespín E; Villaverde C; Martín-Arenas R; Vélez-Monsalve C; Lorda-Sánchez I; Nevado J; Trujillo-Tiebas MJ; Lapunzina P; Ayuso C; Corton M
    PLoS One; 2017; 12(2):e0172363. PubMed ID: 28231309
    [TBL] [Abstract][Full Text] [Related]  

  • 20.
    ; ; . PubMed ID:
    [No Abstract]   [Full Text] [Related]  

    [Next]    [New Search]
    of 4.