BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

563 related articles for article (PubMed ID: 17646993)

  • 1. [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]  

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

  • 3. 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]  

  • 4. 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]  

  • 5. 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]  

  • 6. Mutational Analysis of TYR, OCA2, and SLC45A2 Genes in Chinese Families with Oculocutaneous Albinism.
    Lin Y; Chen X; Yang Y; Che F; Zhang S; Yuan L; Wu Y
    Mol Genet Genomic Med; 2019 Jul; 7(7):e00687. PubMed ID: 31199599
    [TBL] [Abstract][Full Text] [Related]  

  • 7. 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]  

  • 8. 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]  

  • 9. 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]  

  • 10. [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]  

  • 11. Genetic Causes of Oculocutaneous Albinism in Pakistani Population.
    Sajid Z; Yousaf S; Waryah YM; Mughal TA; Kausar T; Shahzad M; Rao AR; Abbasi AA; Shaikh RS; Waryah AM; Riazuddin S; Ahmed ZM
    Genes (Basel); 2021 Mar; 12(4):. PubMed ID: 33800529
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Molecular basis of type I (tyrosinase-related) oculocutaneous albinism: mutations and polymorphisms of the human tyrosinase gene.
    Oetting WS; King RA
    Hum Mutat; 1993; 2(1):1-6. PubMed ID: 8477259
    [TBL] [Abstract][Full Text] [Related]  

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

  • 14. 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]  

  • 15. 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]  

  • 16. 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]  

  • 17. SLC45A2 mutation frequency in Oculocutaneous Albinism Italian patients doesn't differ from other European studies.
    Mauri L; Barone L; Al Oum M; Del Longo A; Piozzi E; Manfredini E; Stanzial F; Benedicenti F; Penco S; Patrosso MC
    Gene; 2014 Jan; 533(1):398-402. PubMed ID: 24096233
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Genetic analysis and prenatal diagnosis of 20 Chinese families with oculocutaneous albinism.
    Xu C; Xiang Y; Li H; Xu Y; Mao Y; Zhou L; Xu X; Tang S
    J Clin Lab Anal; 2021 Feb; 35(2):e23647. PubMed ID: 33124154
    [TBL] [Abstract][Full Text] [Related]  

  • 19. 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]  

  • 20. NGS-based targeted sequencing identified two novel variants in Southwestern Chinese families with oculocutaneous albinism.
    Xiao Y; Zhou C; Xie H; Huang S; Wang J; Liu S
    BMC Genomics; 2022 Apr; 23(1):332. PubMed ID: 35488210
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 29.