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 *

193 related articles for article (PubMed ID: 22042571)

  • 1. Molecular analysis of Korean patients with oculocutaneous albinism.
    Park SH; Chae H; Kim Y; Kim M
    Jpn J Ophthalmol; 2012 Jan; 56(1):98-103. PubMed ID: 22042571
    [TBL] [Abstract][Full Text] [Related]  

  • 2. 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]  

  • 3. 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]  

  • 4. 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]  

  • 5. A comprehensive analysis reveals mutational spectra and common alleles in Chinese patients with oculocutaneous albinism.
    Wei A; Wang Y; Long Y; Wang Y; Guo X; Zhou Z; Zhu W; Liu J; Bian X; Lian S; Li W
    J Invest Dermatol; 2010 Mar; 130(3):716-24. PubMed ID: 19865097
    [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. 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]  

  • 8. 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]  

  • 9. 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]  

  • 10. 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]  

  • 11. 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]  

  • 12. 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]  

  • 13. Identification of Five Novel Variants in Chinese Oculocutaneous Albinism by Targeted Next-Generation Sequencing.
    Qiu B; Ma T; Peng C; Zheng X; Yang J
    Genet Test Mol Biomarkers; 2018 Apr; 22(4):252-258. PubMed ID: 29437493
    [TBL] [Abstract][Full Text] [Related]  

  • 14. 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]  

  • 15. High-resolution array-CGH in patients with oculocutaneous albinism identifies new deletions of the TYR, OCA2, and SLC45A2 genes and a complex rearrangement of the OCA2 gene.
    Morice-Picard F; Lasseaux E; Cailley D; Gros A; Toutain J; Plaisant C; Simon D; François S; Gilbert-Dussardier B; Kaplan J; Rooryck C; Lacombe D; Arveiler B
    Pigment Cell Melanoma Res; 2014 Jan; 27(1):59-71. PubMed ID: 24118800
    [TBL] [Abstract][Full Text] [Related]  

  • 16. 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]  

  • 17. Mutational analysis of oculocutaneous albinism: a compact review.
    Kamaraj B; Purohit R
    Biomed Res Int; 2014; 2014():905472. PubMed ID: 25093188
    [TBL] [Abstract][Full Text] [Related]  

  • 18. 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]  

  • 19. 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]  

  • 20. 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]  

    [Next]    [New Search]
    of 10.