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 *

191 related articles for article (PubMed ID: 37882226)

  • 1. Novel compound heterozygous mutations in OCA2 gene were identified in a Chinese family with oculocutaneous albinism.
    Jiang B; Zhang H; Kan Y; Gao X; Du Z; Liu Q
    Mol Genet Genomic Med; 2024 Jan; 12(1):e2297. PubMed ID: 37882226
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Novel compound heterozygous mutations in OCA2 gene associated with non-syndromic oculocutaneous albinism in a Chinese Han patient: a case report.
    Wang H; Wan Y; Yang Y; Li H; Mao L; Gao S; Xu J; Wang J
    BMC Med Genet; 2019 Jul; 20(1):130. PubMed ID: 31345173
    [TBL] [Abstract][Full Text] [Related]  

  • 3. 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]  

  • 4. Genetic analysis of albinism caused by compound heterozygous mutations of the OCA2 gene in a Chinese family.
    Wang Y; Chang Y; Gao M; Zang W; Liu X
    Hereditas; 2024 Feb; 161(1):8. PubMed ID: 38317267
    [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. 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]  

  • 7. 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]  

  • 8. 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]  

  • 9. 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]  

  • 10. 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]  

  • 11. Molecular genetic characterization of Congolese patients with oculocutaneous albinism.
    Laetitia MM; Veronique K; Mamy NZ; Cathy SM; Aimé L; Race V; Prosper LT; Devriendt K
    Eur J Med Genet; 2022 Nov; 65(11):104611. PubMed ID: 36116698
    [TBL] [Abstract][Full Text] [Related]  

  • 12. 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]  

  • 13. 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]  

  • 14. 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]  

  • 15. 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]  

  • 16. Oculocutaneous albinism type 4: Novel compound heterozygous mutations in the SLC45A2 gene in a Chinese case.
    He D; Liu X; Yao T; Hu J; Zheng X; Tang L; Fan X
    Mol Genet Genomic Med; 2024 Feb; 12(2):e2385. PubMed ID: 38337174
    [TBL] [Abstract][Full Text] [Related]  

  • 17. 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]  

  • 18. 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]  

  • 19. 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]  

  • 20. [Mutation analysis of two pedigrees with suspected oculocutaneous albinism].
    Ye H; Lan X; Qiao T; Xu W; Tang X; Yang Y; Zhang H
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2019 Mar; 36(3):212-216. PubMed ID: 30835348
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 10.