BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

316 related articles for article (PubMed ID: 18402324)

  • 1. [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]  

  • 2. WAGR syndrome--a case report.
    Mahale A; Poornima V; Shrestha M
    Nepal Med Coll J; 2007 Jun; 9(2):138-40. PubMed ID: 17899969
    [TBL] [Abstract][Full Text] [Related]  

  • 3. 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]  

  • 4. 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]  

  • 5. [Genetics of congenital aniridia].
    Neuhaus C; Betz C; Bergmann C; Bolz HJ
    Ophthalmologe; 2014 Dec; 111(12):1157-63. PubMed ID: 25475187
    [TBL] [Abstract][Full Text] [Related]  

  • 6. [Molecular genetic study of the PAX6 gene in aniridia patients].
    Wolf M; Zabel B; Lorenz B; Blankenagel A; Ghorbani MB; Schwenn O; Wildhardt G
    Ophthalmologe; 1998 Dec; 95(12):828-30. PubMed ID: 10025146
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Polymerase chain reaction-based risk assessment for Wilms tumor in sporadic aniridia.
    Gupta SK; De Becker I; Guernsey DL; Neumann PE
    Am J Ophthalmol; 1998 May; 125(5):687-92. PubMed ID: 9625553
    [TBL] [Abstract][Full Text] [Related]  

  • 8. 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]  

  • 9. 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]  

  • 10. 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]  

  • 11. Population-based risk estimates of Wilms tumor in sporadic aniridia. A comprehensive mutation screening procedure of PAX6 identifies 80% of mutations in aniridia.
    Grønskov K; Olsen JH; Sand A; Pedersen W; Carlsen N; Bak Jylling AM; Lyngbye T; Brøndum-Nielsen K; Rosenberg T
    Hum Genet; 2001 Jul; 109(1):11-8. PubMed ID: 11479730
    [TBL] [Abstract][Full Text] [Related]  

  • 12. 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]  

  • 13. 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]  

  • 14. 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]  

  • 15. 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]  

  • 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. 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]  

  • 18. Aniridia: recent achievements in paediatric practice.
    Ivanov I; Shuper A; Shohat M; Snir M; Weitz R
    Eur J Pediatr; 1995 Oct; 154(10):795-800. PubMed ID: 8529675
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Prediction by FISH analysis of the occurrence of Wilms tumor in aniridia patients.
    Muto R; Yamamori S; Ohashi H; Osawa M
    Am J Med Genet; 2002 Apr; 108(4):285-9. PubMed ID: 11920832
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Aniridia.
    Hingorani M; Hanson I; van Heyningen V
    Eur J Hum Genet; 2012 Oct; 20(10):1011-7. PubMed ID: 22692063
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 16.