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Results: 1 to 20 of 572

1.

A family with Axenfeld-Rieger syndrome and Peters Anomaly caused by a point mutation (Phe112Ser) in the FOXC1 gene.

Honkanen RA, Nishimura DY, Swiderski RE, Bennett SR, Hong S, Kwon YH, Stone EM, Sheffield VC, Alward WL.

Am J Ophthalmol. 2003 Mar;135(3):368-75.

PMID:
12614756
[PubMed - indexed for MEDLINE]
2.

Screening for mutations of Axenfeld-Rieger syndrome caused by FOXC1 gene in Japanese patients.

Kawase C, Kawase K, Taniguchi T, Sugiyama K, Yamamoto T, Kitazawa Y, Alward WL, Stone EM, Nishimura DY, Sheffield VC.

J Glaucoma. 2001 Dec;10(6):477-82.

PMID:
11740218
[PubMed - indexed for MEDLINE]
3.

Genetic analysis of PITX2 and FOXC1 in Rieger Syndrome patients from Brazil.

Borges AS, Susanna R Jr, Carani JC, Betinjane AJ, Alward WL, Stone EM, Sheffield VC, Nishimura DY.

J Glaucoma. 2002 Feb;11(1):51-6.

PMID:
11821690
[PubMed - indexed for MEDLINE]
4.

Mutation spectrum of FOXC1 and clinical genetic heterogeneity of Axenfeld-Rieger anomaly in India.

Komatireddy S, Chakrabarti S, Mandal AK, Reddy AB, Sampath S, Panicker SG, Balasubramanian D.

Mol Vis. 2003 Feb 18;9:43-8.

PMID:
12592227
[PubMed - indexed for MEDLINE]
Free Article
5.

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.

PMID:
12454026
[PubMed - indexed for MEDLINE]
Free Article
6.

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. doi: 10.1111/j.1399-0004.2008.01025.x. Epub 2008 May 21.

PMID:
18498376
[PubMed - indexed for MEDLINE]
7.

Novel mutations of FOXC1 and PITX2 in patients with Axenfeld-Rieger malformations.

Weisschuh N, Dressler P, Schuettauf F, Wolf C, Wissinger B, Gramer E.

Invest Ophthalmol Vis Sci. 2006 Sep;47(9):3846-52. Erratum in: Invest Ophthalmol Vis Sci. 2006 Dec;47(12):5162.

PMID:
16936096
[PubMed - indexed for MEDLINE]
Free Article
8.

Axenfeld-Rieger anomaly: a novel mutation in the forkhead box C1 (FOXC1) gene in a 4-generation family.

Mortemousque B, Amati-Bonneau P, Couture F, Graffan R, Dubois S, Colin J, Bonneau D, Morissette J, Lacombe D, Raymond V.

Arch Ophthalmol. 2004 Oct;122(10):1527-33.

PMID:
15477465
[PubMed - indexed for MEDLINE]
9.

Genotype-phenotype correlations in Axenfeld-Rieger malformation and glaucoma patients with FOXC1 and PITX2 mutations.

Strungaru MH, Dinu I, Walter MA.

Invest Ophthalmol Vis Sci. 2007 Jan;48(1):228-37.

PMID:
17197537
[PubMed - indexed for MEDLINE]
Free Article
10.

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.

PMID:
16638984
[PubMed - indexed for MEDLINE]
Free Article
11.

Novel mutations in the FOXC1 gene in Japanese patients with Axenfeld-Rieger syndrome.

Fuse N, Takahashi K, Yokokura S, Nishida K.

Mol Vis. 2007 Jun 27;13:1005-9.

PMID:
17653043
[PubMed - indexed for MEDLINE]
Free PMC Article
12.

A novel (Pro79Thr) mutation in the FKHL7 gene in a Japanese family with Axenfeld-Rieger syndrome.

Suzuki T, Takahashi K, Kuwahara S, Wada Y, Abe T, Tamai M.

Am J Ophthalmol. 2001 Oct;132(4):572-5.

PMID:
11589884
[PubMed - indexed for MEDLINE]
13.

Axenfeld-Rieger syndrome in the age of molecular genetics.

Alward WL.

Am J Ophthalmol. 2000 Jul;130(1):107-15. Review.

PMID:
11004268
[PubMed - indexed for MEDLINE]
14.

Functional interactions between FOXC1 and PITX2 underlie the sensitivity to FOXC1 gene dose in Axenfeld-Rieger syndrome and anterior segment dysgenesis.

Berry FB, Lines MA, Oas JM, Footz T, Underhill DA, Gage PJ, Walter MA.

Hum Mol Genet. 2006 Mar 15;15(6):905-19. Epub 2006 Jan 31.

PMID:
16449236
[PubMed - indexed for MEDLINE]
Free Article
15.

Analyses of a novel L130F missense mutation in FOXC1.

Ito YA, Footz TK, Murphy TC, Courtens W, Walter MA.

Arch Ophthalmol. 2007 Jan;125(1):128-35.

PMID:
17210863
[PubMed - indexed for MEDLINE]
16.

Identification of four new PITX2 gene mutations in patients with Axenfeld-Rieger syndrome.

Vieira V, David G, Roche O, de la Houssaye G, Boutboul S, Arbogast L, Kobetz A, Orssaud C, Camand O, Schorderet DF, Munier F, Rossi A, Delezoide AL, Marsac C, Ricquier D, Dufier JL, Menasche M, Abitbol M.

Mol Vis. 2006 Dec 1;12:1448-60.

PMID:
17167399
[PubMed - indexed for MEDLINE]
Free Article
17.

The wing 2 region of the FOXC1 forkhead domain is necessary for normal DNA-binding and transactivation functions.

Murphy TC, Saleem RA, Footz T, Ritch R, McGillivray B, Walter MA.

Invest Ophthalmol Vis Sci. 2004 Aug;45(8):2531-8.

PMID:
15277473
[PubMed - indexed for MEDLINE]
Free Article
18.

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.

PMID:
12766066
[PubMed - indexed for MEDLINE]
Free Article
19.

Autosomal-dominant iridogoniodysgenesis and Axenfeld-Rieger syndrome are genetically distinct.

Walter MA, Mirzayans F, Mears AJ, Hickey K, Pearce WG.

Ophthalmology. 1996 Nov;103(11):1907-15.

PMID:
8942889
[PubMed - indexed for MEDLINE]
20.

A novel PITX2 mutation and a polymorphism in a 5-generation family with Axenfeld-Rieger anomaly and coexisting Fuchs' endothelial dystrophy.

Kniestedt C, Taralczak M, Thiel MA, Stuermer J, Baumer A, Gloor BP.

Ophthalmology. 2006 Oct;113(10):1791.e1-8. Epub 2006 Jul 31.

PMID:
16876867
[PubMed - indexed for MEDLINE]

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