BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

482 related articles for article (PubMed ID: 29018889)

  • 1. [Oculocutaneous and ocular albinism].
    Kubasch AS; Meurer M
    Hautarzt; 2017 Nov; 68(11):867-875. PubMed ID: 29018889
    [TBL] [Abstract][Full Text] [Related]  

  • 2. [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]  

  • 3. 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]  

  • 4. 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]  

  • 5. Oculocutaneous albinism type 1A: a case report.
    Karaman A
    Dermatol Online J; 2008 Nov; 14(11):13. PubMed ID: 19094851
    [TBL] [Abstract][Full Text] [Related]  

  • 6. [Oculocutaneous albinism].
    Lacour JP; Ortonne JP
    Ann Pediatr (Paris); 1992 Sep; 39(7):409-18. PubMed ID: 1416662
    [TBL] [Abstract][Full Text] [Related]  

  • 7. [Human oculocutaneous albinism. From clinical observation to molecular biology].
    Aquaron R
    Bull Soc Pathol Exot; 1993; 86(5):313-26. PubMed ID: 8124097
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Oculocutaneous albinism.
    Grønskov K; Ek J; Brondum-Nielsen K
    Orphanet J Rare Dis; 2007 Nov; 2():43. PubMed ID: 17980020
    [TBL] [Abstract][Full Text] [Related]  

  • 9. 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]  

  • 10. 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]  

  • 11. Electron microscopic DOPA reaction test for oculocutaneous albinism.
    Takizawa Y; Kato S; Matsunaga J; Aozaki R; Tomita Y; Nishikawa T; Shimizu H
    Arch Dermatol Res; 2000 Jun; 292(6):301-5. PubMed ID: 10929771
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Prospective Study of the Phenotypic and Mutational Spectrum of Ocular Albinism and Oculocutaneous Albinism.
    Chan HW; Schiff ER; Tailor VK; Malka S; Neveu MM; Theodorou M; Moosajee M
    Genes (Basel); 2021 Mar; 12(4):. PubMed ID: 33808351
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Mutation analysis of the tyrosinase gene in oculocutaneous albinism.
    Camand O; Marchant D; Boutboul S; Péquignot M; Odent S; Dollfus H; Sutherland J; Levin A; Menasche M; Marsac C; Dufier JL; Heon E; Abitbol M
    Hum Mutat; 2001 Apr; 17(4):352. PubMed ID: 11295837
    [TBL] [Abstract][Full Text] [Related]  

  • 14. [Albinism].
    Souied E; Cohen SY; Soubrane G; Coscas G
    J Fr Ophtalmol; 1994; 17(11):692-705. PubMed ID: 7722231
    [No Abstract]   [Full Text] [Related]  

  • 15. 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]  

  • 16. Albinism: an update.
    Orlow SJ
    Semin Cutan Med Surg; 1997 Mar; 16(1):24-9. PubMed ID: 9125762
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Tyrosinase gene mutations in type I (tyrosinase-deficient) oculocutaneous albinism define two clusters of missense substitutions.
    Tripathi RK; Strunk KM; Giebel LB; Weleber RG; Spritz RA
    Am J Med Genet; 1992 Jul; 43(5):865-71. PubMed ID: 1642278
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Molecular genetics of oculocutaneous albinism.
    Spritz RA
    Hum Mol Genet; 1994; 3 Spec No():1469-75. PubMed ID: 7849740
    [TBL] [Abstract][Full Text] [Related]  

  • 19. [Phenotype of the visual system in oculocutaneous and ocular albinism].
    Käsmann-Kellner B; Seitz B
    Ophthalmologe; 2007 Aug; 104(8):648-61. PubMed ID: 17684749
    [TBL] [Abstract][Full Text] [Related]  

  • 20. 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]  

    [Next]    [New Search]
    of 25.