BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

315 related articles for article (PubMed ID: 26419218)

  • 1. A familial pericentric inversion of chromosome 11 associated with a microdeletion of 163 kb and microduplication of 288 kb at 11p13 and 11q22.3 without aniridia or eye anomalies.
    Balay L; Totten E; Okada L; Zell S; Ticho B; Israel J; Kogan J
    Am J Med Genet A; 2016 Jan; 170A(1):202-9. PubMed ID: 26419218
    [TBL] [Abstract][Full Text] [Related]  

  • 2. A 556 kb deletion in the downstream region of the PAX6 gene causes familial aniridia and other eye anomalies in a Chinese family.
    Cheng F; Song W; Kang Y; Yu S; Yuan H
    Mol Vis; 2011 Feb; 17():448-55. PubMed ID: 21321669
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Pax6 3' deletion results in aniridia, autism and mental retardation.
    Davis LK; Meyer KJ; Rudd DS; Librant AL; Epping EA; Sheffield VC; Wassink TH
    Hum Genet; 2008 May; 123(4):371-8. PubMed ID: 18322702
    [TBL] [Abstract][Full Text] [Related]  

  • 4. 11p13 deletions can be more frequent than the PAX6 gene point mutations in Polish patients with aniridia.
    Wawrocka A; Sikora A; Kuszel L; Krawczynski MR
    J Appl Genet; 2013 Aug; 54(3):345-51. PubMed ID: 23761016
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Frequent chromosome aberrations revealed by molecular cytogenetic studies in patients with aniridia.
    Crolla JA; van Heyningen V
    Am J Hum Genet; 2002 Nov; 71(5):1138-49. PubMed ID: 12386836
    [TBL] [Abstract][Full Text] [Related]  

  • 6. PAX6 3' deletion in a family with aniridia.
    Wawrocka A; Budny B; Debicki S; Jamsheer A; Sowinska A; Krawczynski MR
    Ophthalmic Genet; 2012 Mar; 33(1):44-8. PubMed ID: 21985185
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Large novel deletions detected in Chinese families with aniridia: correlation between genotype and phenotype.
    Zhang X; Zhang Q; Tong Y; Dai H; Zhao X; Bai F; Xu L; Li Y
    Mol Vis; 2011 Feb; 17():548-57. PubMed ID: 21364908
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Genetic analysis of chromosome 11p13 and the PAX6 gene in a series of 125 cases referred with aniridia.
    Robinson DO; Howarth RJ; Williamson KA; van Heyningen V; Beal SJ; Crolla JA
    Am J Med Genet A; 2008 Mar; 146A(5):558-69. PubMed ID: 18241071
    [TBL] [Abstract][Full Text] [Related]  

  • 9. 3' deletions cause aniridia by preventing PAX6 gene expression.
    Lauderdale JD; Wilensky JS; Oliver ER; Walton DS; Glaser T
    Proc Natl Acad Sci U S A; 2000 Dec; 97(25):13755-9. PubMed ID: 11087823
    [TBL] [Abstract][Full Text] [Related]  

  • 10. A novel heterozygous deletion within the 3' region of the PAX6 gene causing isolated aniridia in a large family group.
    Bayrakli F; Guney I; Bayri Y; Ercan-Sencicek AG; Ceyhan D; Cankaya T; Mason C; Bilguvar K; Bayrakli S; Mane SM; State MW; Gunel M
    J Clin Neurosci; 2009 Dec; 16(12):1610-4. PubMed ID: 19793656
    [TBL] [Abstract][Full Text] [Related]  

  • 11. A deletion 3' to the PAX6 gene in familial aniridia cases.
    D'Elia AV; Pellizzari L; Fabbro D; Pianta A; Divizia MT; Rinaldi R; Grammatico B; Grammatico P; Arduino C; Damante G
    Mol Vis; 2007 Jul; 13():1245-50. PubMed ID: 17679951
    [TBL] [Abstract][Full Text] [Related]  

  • 12. [Two neonates with congenital aniridia: the necessity of genetic investigation].
    van Os E; Niemarkt HJ; Verreussel MJ; Cruysberg JR; Bok LA; Spruijt L
    Ned Tijdschr Geneeskd; 2008 Mar; 152(10):569-73. PubMed ID: 18402324
    [TBL] [Abstract][Full Text] [Related]  

  • 13. 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]  

  • 14. A large novel deletion downstream of PAX6 gene in a Chinese family with ocular coloboma.
    Guo H; Dai L; Huang Y; Liao Q; Bai Y
    PLoS One; 2013; 8(12):e83073. PubMed ID: 24349436
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Homozygous microdeletion in the 11p13 region in the patient with isolated form of aniridia: New challenges in the genetic diagnostics of aniridia.
    Wawrocka A; Walczak-Sztulpa J; Socha M; Kuszel L; Sowinska-Seidler A; Budny B; Bukowska-Olech E; Pilas-Pomykalska M; Jamsheer A; Krawczynski MR
    Am J Med Genet A; 2022 Feb; 188(2):642-647. PubMed ID: 34773354
    [TBL] [Abstract][Full Text] [Related]  

  • 16. 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]  

  • 17. 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]  

  • 18. Isolated aniridia caused by a novel
    Torrefranca AB; Carmona SM; Santiago APD; Cutiongco-Dela Paz E; Lingao MD
    Ophthalmic Genet; 2023 Oct; 44(5):501-504. PubMed ID: 36440799
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Raised risk of Wilms tumour in patients with aniridia and submicroscopic WT1 deletion.
    van Heyningen V; Hoovers JM; de Kraker J; Crolla JA
    J Med Genet; 2007 Dec; 44(12):787-90. PubMed ID: 17630404
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Long-read genome sequencing identifies cryptic structural variants in congenital aniridia cases.
    Damián A; Núñez-Moreno G; Jubin C; Tamayo A; de Alba MR; Villaverde C; Fund C; Delépine M; Leduc A; Deleuze JF; Mínguez P; Ayuso C; Corton M
    Hum Genomics; 2023 Jun; 17(1):45. PubMed ID: 37269011
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 16.