BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

289 related articles for article (PubMed ID: 33800529)

  • 1. 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]  

  • 2. Delineating Novel and Known Pathogenic Variants in
    Shakil M; Akbar A; Aisha NM; Hussain I; Ullah MI; Atif M; Kaul H; Amar A; Latif MZ; Qureshi MA; Mahmood S
    Genes (Basel); 2022 Mar; 13(3):. PubMed ID: 35328057
    [TBL] [Abstract][Full Text] [Related]  

  • 3. 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]  

  • 4. 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]  

  • 5. 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]  

  • 6. 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]  

  • 7. 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]  

  • 8. Ophthalmo-genetic analysis of Pakistani patients with nonsyndromic oculocutaneous albinism through whole exome sequencing.
    Gul H; Ali MZ; Khan E; Zubair M; Badar M; Khan S; Shah AH; Khan MA
    J Pak Med Assoc; 2017 May; 67(5):790-792. PubMed ID: 28507374
    [TBL] [Abstract][Full Text] [Related]  

  • 9. 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]  

  • 10. 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]  

  • 11. 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]  

  • 12. Oculocutaneous albinism (OCA) in Colombia: first molecular screening of the TYR and OCA2 genes in South America.
    Urtatiz O; Sanabria D; Lattig MC
    J Dermatol Sci; 2014 Dec; 76(3):260-2. PubMed ID: 25455140
    [No Abstract]   [Full Text] [Related]  

  • 13. 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]  

  • 14. [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]  

  • 15. Unveiling genetics of non-syndromic albinism using whole exome sequencing: A comprehensive study of TYR, TYRP1, OCA2 and MC1R genes in 17 families.
    Zaman Q; Khan J; Ahmad M; Khan H; Chaudhary HT; Rehman G; Rahman OU; Shah MM; Hussain J; Jamal Q; Khan BT; Khan MA; Sadeeda ; Sahar K; Idrees M; Ahmad R; Faisal MS; Khan MI; Khisroon M; Abdulkareem AA; Lee E; Ryu SW; Bibi N; Muthaffar OY; Jelani M; Naseer MI
    Gene; 2024 Feb; 894():147986. PubMed ID: 37956964
    [TBL] [Abstract][Full Text] [Related]  

  • 16. 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]  

  • 17. Oculocutaneous albinism type 1B associated with a functionally significant tyrosinase gene polymorphism detected with Whole Exome Sequencing.
    Mendez R; Iqbal S; Vishnopolska S; Martinez C; Dibner G; Aliano R; Zaiat J; Biagioli G; Fernandez C; Turjanski A; Campbell AJ; Mercado G; Marti MA
    Ophthalmic Genet; 2021 Jun; 42(3):291-295. PubMed ID: 33599182
    [No Abstract]   [Full Text] [Related]  

  • 18. 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]  

  • 19. 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]  

  • 20. Germline variants in oculocutaneous albinism genes and predisposition to familial cutaneous melanoma.
    Nathan V; Johansson PA; Palmer JM; Howlie M; Hamilton HR; Wadt K; Jönsson G; Brooks KM; Pritchard AL; Hayward NK
    Pigment Cell Melanoma Res; 2019 Nov; 32(6):854-863. PubMed ID: 31233279
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 15.