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 *

229 related articles for article (PubMed ID: 14722913)

  • 21. 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]  

  • 22. 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]  

  • 23. 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]  

  • 24. Mutation analysis of a Chinese family with oculocutaneous albinism.
    Wang X; Zhu Y; Shen N; Peng J; Wang C; Liu H; Lu Y
    Oncotarget; 2016 Dec; 7(51):84981-84988. PubMed ID: 27829221
    [TBL] [Abstract][Full Text] [Related]  

  • 25. Birth prevalence and mutation spectrum in danish patients with autosomal recessive albinism.
    Grønskov K; Ek J; Sand A; Scheller R; Bygum A; Brixen K; Brondum-Nielsen K; Rosenberg T
    Invest Ophthalmol Vis Sci; 2009 Mar; 50(3):1058-64. PubMed ID: 19060277
    [TBL] [Abstract][Full Text] [Related]  

  • 26. Oculocutaneous albinism: developing novel antibodies targeting the proteins associated with OCA2 and OCA4.
    Kondo T; Namiki T; Coelho SG; Valencia JC; Hearing VJ
    J Dermatol Sci; 2015 Jan; 77(1):21-7. PubMed ID: 25530116
    [TBL] [Abstract][Full Text] [Related]  

  • 27. Novel and recurrent mutations in the tyrosinase gene and the P gene in the German albino population.
    Passmore LA; Kaesmann-Kellner B; Weber BH
    Hum Genet; 1999 Sep; 105(3):200-10. PubMed ID: 10987646
    [TBL] [Abstract][Full Text] [Related]  

  • 28. Molecular and clinical characterization of albinism in a large cohort of Italian patients.
    Gargiulo A; Testa F; Rossi S; Di Iorio V; Fecarotta S; de Berardinis T; Iovine A; Magli A; Signorini S; Fazzi E; Galantuomo MS; Fossarello M; Montefusco S; Ciccodicola A; Neri A; Macaluso C; Simonelli F; Surace EM
    Invest Ophthalmol Vis Sci; 2011 Mar; 52(3):1281-9. PubMed ID: 20861488
    [TBL] [Abstract][Full Text] [Related]  

  • 29. Comprehensive analysis of oculocutaneous albinism among non-Hispanic caucasians shows that OCA1 is the most prevalent OCA type.
    Hutton SM; Spritz RA
    J Invest Dermatol; 2008 Oct; 128(10):2442-50. PubMed ID: 18463683
    [TBL] [Abstract][Full Text] [Related]  

  • 30. [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]  

  • 31. Clinical and Mutation Spectrum of Autosomal Recessive Non-Syndromic Oculocutaneous Albinism (nsOCA) in Pakistan: A Review.
    Ullah MI
    Genes (Basel); 2022 Jun; 13(6):. PubMed ID: 35741834
    [TBL] [Abstract][Full Text] [Related]  

  • 32. Genetic analyses of Chinese patients with digenic oculocutaneous albinism.
    Wei AH; Yang XM; Lian S; Li W
    Chin Med J (Engl); 2013 Jan; 126(2):226-30. PubMed ID: 23324268
    [TBL] [Abstract][Full Text] [Related]  

  • 33. 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]  

  • 34. The etiology of oculocutaneous albinism (OCA) type II: the pink protein modulates the processing and transport of tyrosinase.
    Toyofuku K; Valencia JC; Kushimoto T; Costin GE; Virador VM; Vieira WD; Ferrans VJ; Hearing VJ
    Pigment Cell Res; 2002 Jun; 15(3):217-24. PubMed ID: 12028586
    [TBL] [Abstract][Full Text] [Related]  

  • 35. 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]  

  • 36. Is autosomal recessive deafness associated with oculocutaneous albinism a "coincidence syndrome"?
    Lezirovitz K; Nicastro FS; Pardono E; Abreu-Silva RS; Batissoco AC; Neustein I; Spinelli M; Mingroni-Netto RC
    J Hum Genet; 2006; 51(8):716-720. PubMed ID: 16868655
    [TBL] [Abstract][Full Text] [Related]  

  • 37. Mutation spectrum of the TYR and SLC45A2 genes in patients with oculocutaneous albinism.
    Ko JM; Yang JA; Jeong SY; Kim HJ
    Mol Med Rep; 2012 Apr; 5(4):943-8. PubMed ID: 22294196
    [TBL] [Abstract][Full Text] [Related]  

  • 38. Prenatal genotyping of four common oculocutaneous albinism genes in 51 Chinese families.
    Wei AH; Zang DJ; Zhang Z; Yang XM; Li W
    J Genet Genomics; 2015 Jun; 42(6):279-86. PubMed ID: 26165494
    [TBL] [Abstract][Full Text] [Related]  

  • 39. Mutational Analysis on Membrane Associated Transporter Protein (MATP) and Their Structural Consequences in Oculocutaeous Albinism Type 4 (OCA4)-A Molecular Dynamics Approach.
    Kamaraj B; Purohit R
    J Cell Biochem; 2016 Nov; 117(11):2608-19. PubMed ID: 27019209
    [TBL] [Abstract][Full Text] [Related]  

  • 40. Oculocutaneous albinism type 3 (OCA3): analysis of two novel mutations in TYRP1 gene in two Chinese patients.
    Zhang KH; Li Z; Lei J; Pang T; Xu B; Jiang WY; Li HY
    Cell Biochem Biophys; 2011 Dec; 61(3):523-9. PubMed ID: 21739261
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 12.