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 *

256 related articles for article (PubMed ID: 30472657)

  • 1. Mild form of oculocutaneous albinism type 1: phenotypic analysis of compound heterozygous patients with the R402Q variant of the
    Monfermé S; Lasseaux E; Duncombe-Poulet C; Hamel C; Defoort-Dhellemmes S; Drumare I; Zanlonghi X; Dollfus H; Perdomo Y; Bonneau D; Korobelnik JF; Plaisant C; Michaud V; Pennamen P; Rooryck-Thambo C; Morice-Picard F; Paya C; Arveiler B
    Br J Ophthalmol; 2019 Sep; 103(9):1239-1247. PubMed ID: 30472657
    [TBL] [Abstract][Full Text] [Related]  

  • 2. 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]  

  • 3. Two novel tyrosinase (TYR) gene mutations with pathogenic impact on oculocutaneous albinism type 1 (OCA1).
    Ghodsinejad Kalahroudi V; Kamalidehghan B; Arasteh Kani A; Aryani O; Tondar M; Ahmadipour F; Chung LY; Houshmand M
    PLoS One; 2014; 9(9):e106656. PubMed ID: 25216246
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Mutational Analysis of the TYR and OCA2 Genes in Four Chinese Families with Oculocutaneous Albinism.
    Wang Y; Wang Z; Chen M; Fan N; Yang J; Liu L; Wang Y; Liu X
    PLoS One; 2015; 10(4):e0125651. PubMed ID: 25919014
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Screening of TYR, OCA2, GPR143, and MC1R in patients with congenital nystagmus, macular hypoplasia, and fundus hypopigmentation indicating albinism.
    Preising MN; Forster H; Gonser M; Lorenz B
    Mol Vis; 2011 Apr; 17():939-48. PubMed ID: 21541274
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Genotype-phenotype associations in Danish patients with ocular and oculocutaneous albinism.
    Kessel L; Kjer B; Lei U; Duno M; Grønskov K
    Ophthalmic Genet; 2021 Jun; 42(3):230-238. PubMed ID: 33612058
    [TBL] [Abstract][Full Text] [Related]  

  • 7. The R402Q tyrosinase variant does not cause autosomal recessive ocular albinism.
    Oetting WS; Pietsch J; Brott MJ; Savage S; Fryer JP; Summers CG; King RA
    Am J Med Genet A; 2009 Mar; 149A(3):466-9. PubMed ID: 19208379
    [TBL] [Abstract][Full Text] [Related]  

  • 8. 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]  

  • 9. 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]  

  • 10. Hermansky-Pudlak syndrome and oculocutaneous albinism in Chinese children with pigmentation defects and easy bruising.
    Power B; Ferreira CR; Chen D; Zein WM; O'Brien KJ; Introne WJ; Stephen J; Gahl WA; Huizing M; Malicdan MCV; Adams DR; Gochuico BR
    Orphanet J Rare Dis; 2019 Feb; 14(1):52. PubMed ID: 30791930
    [TBL] [Abstract][Full Text] [Related]  

  • 11. 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]  

  • 12. Sequence analysis of tyrosinase gene in ocular and oculocutaneous albinism patients: introducing three novel mutations.
    Khordadpoor-Deilamani F; Akbari MT; Karimipoor M; Javadi G
    Mol Vis; 2015; 21():730-5. PubMed ID: 26167114
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Genetic Linkage between
    Bjeloš M; Ćurić A; Bušić M; Rak B; Kuzmanović Elabjer B
    Int J Mol Sci; 2024 Jun; 25(12):. PubMed ID: 38928147
    [TBL] [Abstract][Full Text] [Related]  

  • 14. 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]  

  • 15. 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]  

  • 16. [An overview of oculocutaneous albinism: TYR gene mutations in five Colombian individuals].
    Sanabria D; Groot H; Guzmán J; Lattig MC
    Biomedica; 2012 Jun; 32(2):269-76. PubMed ID: 23242301
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Ophthalmic features of minimal pigment oculocutaneous albinism.
    Summers CG; King RA
    Ophthalmology; 1994 May; 101(5):906-14. PubMed ID: 8190479
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Genetic analysis of oculocutaneous albinism type 1 (OCA1) in Indian families: two novel frameshift mutations in the TYR Gene.
    Sundaresan P; Sil AK; Philp AR; Randolph MA; Natchiar G; Namperumalsamy P
    Mol Vis; 2004 Dec; 10():1005-10. PubMed ID: 15635296
    [TBL] [Abstract][Full Text] [Related]  

  • 19. 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]  

  • 20. Tyrosinase gene mutations in the Chinese Han population with OCA1.
    Liu N; Kong XD; Shi HR; Wu QH; Jiang M
    Genet Res (Camb); 2014 Nov; 96():e14. PubMed ID: 25577957
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 13.