BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

188 related articles for article (PubMed ID: 19764918)

  • 1. Rieger syndrome is not associated with PAX6 deletion: a correction to Acta Ophthalmol Scand 2001: 79: 201-203.
    Riise R; D'haene B; De Baere E; Grønskov K; Brøndum-Nielsen K
    Acta Ophthalmol; 2009 Nov; 87(8):923. PubMed ID: 19764918
    [No Abstract]   [Full Text] [Related]  

  • 2. Rieger syndrome is associated with PAX6 deletion.
    Riise R; Storhaug K; Brøndum-Nielsen K
    Acta Ophthalmol Scand; 2001 Apr; 79(2):201-3. PubMed ID: 11284764
    [TBL] [Abstract][Full Text] [Related]  

  • 3. 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]  

  • 4. Ocular findings in Gillespie-like syndrome: association with a new PAX6 mutation.
    Ticho BH; Hilchie-Schmidt C; Egel RT; Traboulsi EI; Howarth RJ; Robinson D
    Ophthalmic Genet; 2006 Dec; 27(4):145-9. PubMed ID: 17148041
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Novel CYP1B1 and known PAX6 mutations in anterior segment dysgenesis (ASD).
    Chavarria-Soley G; Michels-Rautenstrauss K; Caliebe A; Kautza M; Mardin C; Rautenstrauss B
    J Glaucoma; 2006 Dec; 15(6):499-504. PubMed ID: 17106362
    [TBL] [Abstract][Full Text] [Related]  

  • 6. A case of aniridia with unilateral Peters anomaly.
    Sawada M; Sato M; Hikoya A; Wang C; Minoshima S; Azuma N; Hotta Y
    J AAPOS; 2011 Feb; 15(1):104-6. PubMed ID: 21397818
    [TBL] [Abstract][Full Text] [Related]  

  • 7. A new autosomal dominant Peters' anomaly phenotype expanding the anterior segment dysgenesis spectrum.
    Berker N; Alanay Y; Elgin U; Volkan-Salanci B; Simsek T; Akarsu N; Alikasifoglu M
    Acta Ophthalmol; 2009 Feb; 87(1):52-7. PubMed ID: 18616618
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Two novel mutations of the PAX6 gene causing different phenotype in a cohort of Chinese patients.
    Zhang X; Tong Y; Xu W; Dong B; Yang H; Xu L; Li Y
    Eye (Lond); 2011 Dec; 25(12):1581-9. PubMed ID: 21904390
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Genetic dissection of Pax6 dosage requirements in the developing mouse eye.
    Davis-Silberman N; Kalich T; Oron-Karni V; Marquardt T; Kroeber M; Tamm ER; Ashery-Padan R
    Hum Mol Genet; 2005 Aug; 14(15):2265-76. PubMed ID: 15987699
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Three cases with unusual ophthalmic phenotypes of congenital aniridia.
    Lee NY; Lee YE; Mok J; Kim M; Park SH
    Can J Ophthalmol; 2013 Aug; 48(4):340-2. PubMed ID: 23931477
    [TBL] [Abstract][Full Text] [Related]  

  • 11. De novo duplication 11p13 involving the PAX6 gene in a patient with neonatal seizures, hypotonia, microcephaly, developmental disability and minor ocular manifestations.
    Aradhya S; Smaoui N; Marble M; Lacassie Y
    Am J Med Genet A; 2011 Feb; 155A(2):442-4. PubMed ID: 21271670
    [No Abstract]   [Full Text] [Related]  

  • 12. Dental anomalies in Axenfeld-Rieger syndrome.
    O'Dwyer EM; Jones DC
    Int J Paediatr Dent; 2005 Nov; 15(6):459-63. PubMed ID: 16238657
    [TBL] [Abstract][Full Text] [Related]  

  • 13. [Rieger syndrome].
    Ishikiriyama S
    Ryoikibetsu Shokogun Shirizu; 2000; (30 Pt 5):231-3. PubMed ID: 11057209
    [No Abstract]   [Full Text] [Related]  

  • 14. Rieger syndrome.
    Deng J; Wang N
    Yan Ke Xue Bao; 1998 Mar; 14(1):52-6. PubMed ID: 12580078
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Histopathological characterisation of effects of the mouse Pax6(Leca4) missense mutation on eye development.
    Ramaesh T; Williams SE; Paul C; Ramaesh K; Dhillon B; West JD
    Exp Eye Res; 2009 Aug; 89(2):263-73. PubMed ID: 19345209
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Missense mutation at the C terminus of the PAX6 gene in ocular anterior segment anomalies.
    Azuma N; Yamada M
    Invest Ophthalmol Vis Sci; 1998 Apr; 39(5):828-30. PubMed ID: 9538891
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Not for the eyes only: PAX6 and glucose metabolism.
    Laakso M
    Diabetologia; 2009 Mar; 52(3):381-4. PubMed ID: 19130035
    [No Abstract]   [Full Text] [Related]  

  • 18. Foxe3 is required for morphogenesis and differentiation of the anterior segment of the eye and is sensitive to Pax6 gene dosage.
    Blixt A; Landgren H; Johansson BR; Carlsson P
    Dev Biol; 2007 Feb; 302(1):218-29. PubMed ID: 17064680
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Clinical manifestation of a novel PAX6 mutation Arg128Pro.
    Bredrup C; Knappskog PM; Rødahl E; Boman H
    Arch Ophthalmol; 2008 Mar; 126(3):428-30. PubMed ID: 18332330
    [No Abstract]   [Full Text] [Related]  

  • 20. Primary defects in the lens underlie complex anterior segment abnormalities of the Pax6 heterozygous eye.
    Collinson JM; Quinn JC; Buchanan MA; Kaufman MH; Wedden SE; West JD; Hill RE
    Proc Natl Acad Sci U S A; 2001 Aug; 98(17):9688-93. PubMed ID: 11481423
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 10.