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 *

332 related articles for article (PubMed ID: 20806075)

  • 1. Spectrum of candidate gene mutations associated with Indian familial oculocutaneous and ocular albinism.
    Renugadevi K; Sil AK; Perumalsamy V; Sundaresan P
    Mol Vis; 2010 Aug; 16():1514-24. PubMed ID: 20806075
    [TBL] [Abstract][Full Text] [Related]  

  • 2. 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]  

  • 3. 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]  

  • 4. SLC45A2 variations in Indian oculocutaneous albinism patients.
    Sengupta M; Chaki M; Arti N; Ray K
    Mol Vis; 2007 Aug; 13():1406-11. PubMed ID: 17768386
    [TBL] [Abstract][Full Text] [Related]  

  • 5. 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]  

  • 6. 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]  

  • 7. Identifying genetic defects in oculocutaneous albinism patients of West Bengal, Eastern India.
    Dutta T; Ganguly K; Saha A; Sil A; Ray K; Sengupta M
    Mol Biol Rep; 2024 Jul; 51(1):818. PubMed ID: 39014059
    [TBL] [Abstract][Full Text] [Related]  

  • 8. 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]  

  • 9. 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]  

  • 10. Molecular genetic studies and delineation of the oculocutaneous albinism phenotype in the Pakistani population.
    Jaworek TJ; Kausar T; Bell SM; Tariq N; Maqsood MI; Sohail A; Ali M; Iqbal F; Rasool S; Riazuddin S; Shaikh RS; Ahmed ZM
    Orphanet J Rare Dis; 2012 Jun; 7():44. PubMed ID: 22734612
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Genetic studies of multiple consanguineous Pakistani families segregating oculocutaneous albinism identified novel and reported mutations.
    Gul H; Shah AH; Harripaul R; Mikhailov A; Prajapati K; Khan E; Ullah F; Zubair M; Ali MZ; Shah AH; Salman S; Khan S; Vincent JB; Khan MA
    Ann Hum Genet; 2019 Jul; 83(4):278-284. PubMed ID: 30868578
    [TBL] [Abstract][Full Text] [Related]  

  • 12. 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]  

  • 13. Mutational spectrum of the TYR and SLC45A2 genes in Pakistani families with oculocutaneous albinism, and potential founder effect of missense substitution (p.Arg77Gln) of tyrosinase.
    Shah SA; Raheem N; Daud S; Mubeen J; Shaikh AA; Baloch AH; Nadeem A; Tayyab M; Babar ME; Ahmad J
    Clin Exp Dermatol; 2015 Oct; 40(7):774-80. PubMed ID: 25703744
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Comprehensive analysis of the molecular basis of oculocutaneous albinism in Indian patients lacking a mutation in the tyrosinase gene.
    Sengupta M; Mondal M; Jaiswal P; Sinha S; Chaki M; Samanta S; Ray K
    Br J Dermatol; 2010 Sep; 163(3):487-94. PubMed ID: 20426782
    [TBL] [Abstract][Full Text] [Related]  

  • 15. 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]  

  • 16. Mutation Analysis of 63 Northwest Chinese Probands with Oculocutaneous Albinism.
    Chuan Z; Yan Y; Hao S; Zhang Q; Zhou B; Feng X; Wang X; Liu F; Zheng L; Cao Z; Ma X
    Curr Eye Res; 2021 Jan; 46(1):140-143. PubMed ID: 32552135
    [TBL] [Abstract][Full Text] [Related]  

  • 17. 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]  

  • 18. Functional characterization of two novel splicing mutations in the OCA2 gene associated with oculocutaneous albinism type II.
    Rimoldi V; Straniero L; Asselta R; Mauri L; Manfredini E; Penco S; Gesu GP; Del Longo A; Piozzi E; Soldà G; Primignani P
    Gene; 2014 Mar; 537(1):79-84. PubMed ID: 24361966
    [TBL] [Abstract][Full Text] [Related]  

  • 19. 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]  

  • 20. Identification of P gene mutations in individuals with oculocutaneous albinism in sub-Saharan Africa.
    Kerr R; Stevens G; Manga P; Salm S; John P; Haw T; Ramsay M
    Hum Mutat; 2000; 15(2):166-72. PubMed ID: 10649493
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 17.