BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

206 related articles for article (PubMed ID: 22815627)

  • 21. Structural assessment of PITX2, FOXC1, CYP1B1, and GJA1 genes in patients with Axenfeld-Rieger syndrome with developmental glaucoma.
    Cella W; de Vasconcellos JP; de Melo MB; Kneipp B; Costa FF; Longui CA; Costa VP
    Invest Ophthalmol Vis Sci; 2006 May; 47(5):1803-9. PubMed ID: 16638984
    [TBL] [Abstract][Full Text] [Related]  

  • 22. A mutation in
    Darbari E; Zare-Abdollahi D; Alavi A; Rezaei Kanavi M; Feizi S; Hosseini SB; Baradaran-Rafii A; Ahmadieh H; Issazadeh-Navikas S; Elahi E
    Mol Vis; 2020; 26():757-765. PubMed ID: 33273802
    [TBL] [Abstract][Full Text] [Related]  

  • 23. PAX6 gene dosage effect in a family with congenital cataracts, aniridia, anophthalmia and central nervous system defects.
    Glaser T; Jepeal L; Edwards JG; Young SR; Favor J; Maas RL
    Nat Genet; 1994 Aug; 7(4):463-71. PubMed ID: 7951315
    [TBL] [Abstract][Full Text] [Related]  

  • 24. Mutation Survey of Candidate Genes and Genotype-Phenotype Analysis in 20 Southeastern Chinese Patients with Axenfeld-Rieger Syndrome.
    Wang X; Liu X; Huang L; Fang S; Jia X; Xiao X; Li S; Guo X
    Curr Eye Res; 2018 Nov; 43(11):1334-1341. PubMed ID: 29939776
    [TBL] [Abstract][Full Text] [Related]  

  • 25. Molecular characterization of Axenfeld-Rieger spectrum and other anterior segment dysgeneses in a sample of Mexican patients.
    Hernández-Martínez N; González-Del Angel A; Alcántara-Ortigoza MA; González-Huerta LM; Cuevas-Covarrubias SA; Villanueva-Mendoza C
    Ophthalmic Genet; 2018 Dec; 39(6):728-734. PubMed ID: 30457409
    [TBL] [Abstract][Full Text] [Related]  

  • 26. Childhood glaucoma genes and phenotypes: Focus on FOXC1 mutations causing anterior segment dysgenesis and hearing loss.
    Gauthier AC; Wiggs JL
    Exp Eye Res; 2020 Jan; 190():107893. PubMed ID: 31836490
    [TBL] [Abstract][Full Text] [Related]  

  • 27. Mutations at the PAX6 locus are found in heterogeneous anterior segment malformations including Peters' anomaly.
    Hanson IM; Fletcher JM; Jordan T; Brown A; Taylor D; Adams RJ; Punnett HH; van Heyningen V
    Nat Genet; 1994 Feb; 6(2):168-73. PubMed ID: 8162071
    [TBL] [Abstract][Full Text] [Related]  

  • 28. 8q21.11 microdeletion in two patients with syndromic peters anomaly.
    Happ H; Schilter KF; Weh E; Reis LM; Semina EV
    Am J Med Genet A; 2016 Sep; 170(9):2471-5. PubMed ID: 27378168
    [TBL] [Abstract][Full Text] [Related]  

  • 29. A novel mutation in the FOXC1 gene in a family with Axenfeld-Rieger syndrome and Peters' anomaly.
    Weisschuh N; Wolf C; Wissinger B; Gramer E
    Clin Genet; 2008 Nov; 74(5):476-80. PubMed ID: 18498376
    [TBL] [Abstract][Full Text] [Related]  

  • 30. 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]  

  • 31. Bilateral Peters' anomaly, aniridia and Wilms tumour (WAGR syndrome) in monozygotic twins.
    Cronemberger S; Albuquerque ALB; Silva ACSE; Zanini JLSS; da Silva AHG; Barbosa LF; da Cunha Rubião F; de Lima FL; Casimiro RF; Martins MP; Diniz-Filho A; Bastos-Rodrigues L; Friedman E; De Marco L
    Acta Paediatr; 2024 Jun; 113(6):1420-1425. PubMed ID: 38363039
    [TBL] [Abstract][Full Text] [Related]  

  • 32. CYP1B1-related anterior segment developmental anomalies novel mutations for infantile glaucoma and von Hippel's ulcer revisited.
    Kelberman D; Islam L; Jacques TS; Russell-Eggitt I; Bitner-Glindzicz M; Khaw PT; Nischal KK; Sowden JC
    Ophthalmology; 2011 Sep; 118(9):1865-73. PubMed ID: 21600657
    [TBL] [Abstract][Full Text] [Related]  

  • 33. Variable Anterior Segment Dysgenesis and Cardiac Anomalies Caused by a Novel Truncating Variant of FOXC1.
    Ahmed MR; Sethna S; Krueger LA; Yang MB; Hufnagel RB
    Genes (Basel); 2022 Feb; 13(3):. PubMed ID: 35327965
    [TBL] [Abstract][Full Text] [Related]  

  • 34. Analysis of
    Reis LM; Tyler RC; Weh E; Hendee KE; Kariminejad A; Abdul-Rahman O; Ben-Omran T; Manning MA; Yesilyurt A; McCarty CA; Kitchner TE; Costakos D; Semina EV
    Mol Vis; 2016; 22():1229-1238. PubMed ID: 27777502
    [TBL] [Abstract][Full Text] [Related]  

  • 35. Novel mutation in FOXC1 wing region causing Axenfeld-Rieger anomaly.
    Panicker SG; Sampath S; Mandal AK; Reddy AB; Ahmed N; Hasnain SE
    Invest Ophthalmol Vis Sci; 2002 Dec; 43(12):3613-6. PubMed ID: 12454026
    [TBL] [Abstract][Full Text] [Related]  

  • 36. Domain disruption and mutation of the bZIP transcription factor, MAF, associated with cataract, ocular anterior segment dysgenesis and coloboma.
    Jamieson RV; Perveen R; Kerr B; Carette M; Yardley J; Heon E; Wirth MG; van Heyningen V; Donnai D; Munier F; Black GC
    Hum Mol Genet; 2002 Jan; 11(1):33-42. PubMed ID: 11772997
    [TBL] [Abstract][Full Text] [Related]  

  • 37. Novel anterior segment phenotypes resulting from forkhead gene alterations: evidence for cross-species conservation of function.
    Lehmann OJ; Tuft S; Brice G; Smith R; Blixt A; Bell R; Johansson B; Jordan T; Hitchings RA; Khaw PT; John SW; Carlsson P; Bhattacharya SS
    Invest Ophthalmol Vis Sci; 2003 Jun; 44(6):2627-33. PubMed ID: 12766066
    [TBL] [Abstract][Full Text] [Related]  

  • 38. Non-invasive anterior segment and posterior segment optical coherence tomography and phenotypic characterization of aniridia.
    Gregory-Evans K; Cheong-Leen R; George SM; Xie J; Moosajee M; Colapinto P; Gregory-Evans CY
    Can J Ophthalmol; 2011 Aug; 46(4):337-44. PubMed ID: 21816254
    [TBL] [Abstract][Full Text] [Related]  

  • 39. Loss of Msx2 function down-regulates the FoxE3 expression and results in anterior segment dysgenesis resembling Peters anomaly.
    Zhao J; Kawai K; Wang H; Wu D; Wang M; Yue Z; Zhang J; Liu YH
    Am J Pathol; 2012 Jun; 180(6):2230-9. PubMed ID: 22503753
    [TBL] [Abstract][Full Text] [Related]  

  • 40. Clinical and molecular aspects of congenital aniridia - A review of current concepts.
    Tibrewal S; Ratna R; Gour A; Agarkar S; Dubey S; Ganesh S; Kekunnaya R; Sangwan V; Liu Y; Vanita V
    Indian J Ophthalmol; 2022 Jul; 70(7):2280-2292. PubMed ID: 35791108
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 11.