BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

93 related articles for article (PubMed ID: 32920601)

  • 1. Aberrant expression of PAX6 gene associated with classical aniridia: identification and functional characterization of novel noncoding mutations.
    Lee J; Suh Y; Jeong H; Kim GH; Byeon SH; Han J; Lim HT
    J Hum Genet; 2021 Mar; 66(3):333-338. PubMed ID: 32920601
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Identification of novel PAX6 mutations in two families with bilateral aniridia. Mutations in brief no. 167. Online.
    Neuner-Jehle M; Munier F; Kobetz A; Sahly I; Uteza Y; Mermoud A; Schorderet DF; Dufier JL; Abitbol M
    Hum Mutat; 1998; 12(2):138. PubMed ID: 10694925
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Implication of non-coding PAX6 mutations in aniridia.
    Plaisancié J; Tarilonte M; Ramos P; Jeanton-Scaramouche C; Gaston V; Dollfus H; Aguilera D; Kaplan J; Fares-Taie L; Blanco-Kelly F; Villaverde C; Francannet C; Goldenberg A; Arroyo I; Rozet JM; Ayuso C; Chassaing N; Calvas P; Corton M
    Hum Genet; 2018 Oct; 137(10):831-846. PubMed ID: 30291432
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Minigene Splicing Assays and Long-Read Sequencing to Unravel Pathogenic Deep-Intronic Variants in
    Tamayo A; Núñez-Moreno G; Ruiz C; Plaisancie J; Damian A; Moya J; Chassaing N; Calvas P; Ayuso C; Minguez P; Corton M
    Int J Mol Sci; 2023 Jan; 24(2):. PubMed ID: 36675087
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Three new PAX6 mutations including one causing an unusual ophthalmic phenotype associated with neurodevelopmental abnormalities.
    Dansault A; David G; Schwartz C; Jaliffa C; Vieira V; de la Houssaye G; Bigot K; Catin F; Tattu L; Chopin C; Halimi P; Roche O; Van Regemorter N; Munier F; Schorderet D; Dufier JL; Marsac C; Ricquier D; Menasche M; Penfornis A; Abitbol M
    Mol Vis; 2007 Apr; 13():511-23. PubMed ID: 17417613
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Variants in TRIM44 Cause Aniridia by Impairing PAX6 Expression.
    Zhang X; Qin G; Chen G; Li T; Gao L; Huang L; Zhang Y; Ouyang K; Wang Y; Pang Y; Zeng B; Yu L
    Hum Mutat; 2015 Dec; 36(12):1164-7. PubMed ID: 26394807
    [TBL] [Abstract][Full Text] [Related]  

  • 7. PAX6 gene variations associated with aniridia in south India.
    Neethirajan G; Krishnadas SR; Vijayalakshmi P; Shashikant S; Sundaresan P
    BMC Med Genet; 2004 Apr; 5():9. PubMed ID: 15086958
    [TBL] [Abstract][Full Text] [Related]  

  • 8. PAX6 gene intragenic deletions in Mexican patients with congenital aniridia.
    Ramirez-Miranda A; Zenteno JC
    Mol Vis; 2006 Apr; 12():318-23. PubMed ID: 16617299
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Mutational analysis and genotype-phenotype correlations in southern Indian patients with sporadic and familial aniridia.
    Dubey SK; Mahalaxmi N; Vijayalakshmi P; Sundaresan P
    Mol Vis; 2015; 21():88-97. PubMed ID: 25678763
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Missense mutation at the C-terminus of PAX6 negatively modulates homeodomain function.
    Singh S; Chao LY; Mishra R; Davies J; Saunders GF
    Hum Mol Genet; 2001 Apr; 10(9):911-8. PubMed ID: 11309364
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Four novel and two previously reported mutations of the PAX6 gene in patients with aniridia.
    Saunders GF; Chao LY
    Hum Mutat; 1998; Suppl 1():S207-8. PubMed ID: 9452088
    [No Abstract]   [Full Text] [Related]  

  • 12. Experimental assessment of novel PAX6 splicing mutations in two Chinese families with aniridia.
    Miao Q; Ping X; Tang X; Zhang L; Zhang X; Cheng Y; Shentu X
    Gene; 2017 Sep; 630():44-48. PubMed ID: 28760551
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Comparison between aniridia with and without PAX6 mutations: clinical and molecular analysis in 14 Korean patients with aniridia.
    Lim HT; Seo EJ; Kim GH; Ahn H; Lee HJ; Shin KH; Lee JK; Yoo HW
    Ophthalmology; 2012 Jun; 119(6):1258-64. PubMed ID: 22361317
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Xenopus pax6 mutants affect eye development and other organ systems, and have phenotypic similarities to human aniridia patients.
    Nakayama T; Fisher M; Nakajima K; Odeleye AO; Zimmerman KB; Fish MB; Yaoita Y; Chojnowski JL; Lauderdale JD; Netland PA; Grainger RM
    Dev Biol; 2015 Dec; 408(2):328-44. PubMed ID: 25724657
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Assessment of PAX6 alleles in 66 families with aniridia.
    Bobilev AM; McDougal ME; Taylor WL; Geisert EE; Netland PA; Lauderdale JD
    Clin Genet; 2016 Jun; 89(6):669-77. PubMed ID: 26661695
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Identification of a novel frameshift heterozygous deletion in exon 8 of the PAX6 gene in a pedigree with aniridia.
    Giray Bozkaya O; Ataman E; Aksel Kilicarslan O; Cankaya T; Ulgenalp A
    Mol Med Rep; 2016 Sep; 14(3):2150-4. PubMed ID: 27431685
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Molecular analysis of patients with aniridia in Russian Federation broadens the spectrum of PAX6 mutations.
    Vasilyeva TA; Voskresenskaya AA; Käsmann-Kellner B; Khlebnikova OV; Pozdeyeva NA; Bayazutdinova GM; Kutsev SI; Ginter EK; Semina EV; Marakhonov AV; Zinchenko RA
    Clin Genet; 2017 Dec; 92(6):639-644. PubMed ID: 28321846
    [TBL] [Abstract][Full Text] [Related]  

  • 18. PAX6 allelic heterogeneity in Mexican congenital aniridia patients: expanding the mutational spectrum with seven novel pathogenic variants.
    Pérez-Solórzano S; Chacón-Camacho OF; Astiazarán MC; Ledesma-Gil G; Zenteno JC
    Clin Exp Ophthalmol; 2017 Dec; 45(9):875-883. PubMed ID: 28488383
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Mutation in the PAX6 gene in twenty patients with aniridia.
    Chao LY; Huff V; Strong LC; Saunders GF
    Hum Mutat; 2000; 15(4):332-9. PubMed ID: 10737978
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Upstream ORF frameshift variants in the PAX6 5'UTR cause congenital aniridia.
    Filatova AY; Vasilyeva TA; Marakhonov AV; Sukhanova NV; Voskresenskaya AA; Zinchenko RA; Skoblov MY
    Hum Mutat; 2021 Aug; 42(8):1053-1065. PubMed ID: 34174135
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 5.