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 *

319 related articles for article (PubMed ID: 22734612)

  • 1. 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]  

  • 2. 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]  

  • 3. 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]  

  • 4. 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]  

  • 5. 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]  

  • 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. 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]  

  • 9. 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]  

  • 10. 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]  

  • 11. 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]  

  • 12. 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]  

  • 13. 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]  

  • 14. 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]  

  • 15. Molecular outcomes, clinical consequences, and genetic diagnosis of Oculocutaneous Albinism in Pakistani population.
    Shahzad M; Yousaf S; Waryah YM; Gul H; Kausar T; Tariq N; Mahmood U; Ali M; Khan MA; Waryah AM; Shaikh RS; Riazuddin S; Ahmed ZM;
    Sci Rep; 2017 Mar; 7():44185. PubMed ID: 28266639
    [TBL] [Abstract][Full Text] [Related]  

  • 16. 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]  

  • 17. 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]  

  • 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. Mutational spectrum associated with oculocutaneous albinism and Hermansky-Pudlak syndrome in nine Pakistani families.
    Khan J; Asif S; Ghani S; Khan H; Arshad MW; Khan SA; Lin S; Baple EL; Salter C; Crosby AH; Rawlins L; Shabbir MI
    BMC Ophthalmol; 2024 Aug; 24(1):345. PubMed ID: 39143519
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Tyrosinase (TYR) gene sequencing and literature review reveals recurrent mutations and multiple population founder gene mutations as causative of oculocutaneous albinism (OCA) in Pakistani families.
    Shakil M; Harlalka GV; Ali S; Lin S; D'Atri I; Hussain S; Nasir A; Shahzad MA; Ullah MI; Self JE; Baple EL; Crosby AH; Mahmood S
    Eye (Lond); 2019 Aug; 33(8):1339-1346. PubMed ID: 30996339
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 16.