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Items: 1 to 20 of 190

1.

Cardiac anomalies in Axenfeld-Rieger syndrome due to a novel FOXC1 mutation.

Gripp KW, Hopkins E, Jenny K, Thacker D, Salvin J.

Am J Med Genet A. 2013 Jan;161A(1):114-9. doi: 10.1002/ajmg.a.35697. Epub 2012 Dec 14.

PMID:
23239455
2.

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
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
4.

PITX2 and FOXC1 spectrum of mutations in ocular syndromes.

Reis LM, Tyler RC, Volkmann Kloss BA, Schilter KF, Levin AV, Lowry RB, Zwijnenburg PJ, Stroh E, Broeckel U, Murray JC, Semina EV.

Eur J Hum Genet. 2012 Dec;20(12):1224-33. doi: 10.1038/ejhg.2012.80. Epub 2012 May 9.

5.

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
6.

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.

7.

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
8.

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
9.

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
10.

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
11.

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
12.

Axenfeld-Rieger syndrome and spectrum of PITX2 and FOXC1 mutations.

Tümer Z, Bach-Holm D.

Eur J Hum Genet. 2009 Dec;17(12):1527-39. doi: 10.1038/ejhg.2009.93. Epub 2009 Jun 10. Review.

13.

Identification of the first intragenic deletion of the PITX2 gene causing an Axenfeld-Rieger Syndrome: case report.

de la Houssaye G, Bieche I, Roche O, Vieira V, Laurendeau I, Arbogast L, Zeghidi H, Rapp P, Halimi P, Vidaud M, Dufier JL, Menasche M, Abitbol M.

BMC Med Genet. 2006 Nov 29;7:82.

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
15.

Expanding the spectrum of FOXC1 and PITX2 mutations and copy number changes in patients with anterior segment malformations.

D'haene B, Meire F, Claerhout I, Kroes HY, Plomp A, Arens YH, de Ravel T, Casteels I, De Jaegere S, Hooghe S, Wuyts W, van den Ende J, Roulez F, Veenstra-Knol HE, Oldenburg RA, Giltay J, Verheij JB, de Faber JT, Menten B, De Paepe A, Kestelyn P, Leroy BP, De Baere E.

Invest Ophthalmol Vis Sci. 2011 Jan 21;52(1):324-33. doi: 10.1167/iovs.10-5309.

PMID:
20881294
16.

Expression of the Mf1 gene in developing mouse hearts: implication in the development of human congenital heart defects.

Swiderski RE, Reiter RS, Nishimura DY, Alward WL, Kalenak JW, Searby CS, Stone EM, Sheffield VC, Lin JJ.

Dev Dyn. 1999 Sep;216(1):16-27.

17.

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.

18.

Axenfeld-Rieger anomaly and Axenfeld-Rieger syndrome: clinical, molecular-cytogenetic, and DNA array analyses of three patients with chromosomal defects at 6p25.

Tonoki H, Harada N, Shimokawa O, Yosozumi A, Monzaki K, Satoh K, Kosaki R, Sato A, Matsumoto N, Iizuka S.

Am J Med Genet A. 2011 Dec;155A(12):2925-32. doi: 10.1002/ajmg.a.33858. Epub 2011 Oct 18.

PMID:
22009788
19.

Novel c.300_301delinsT mutation in PITX2 in a Korean family with Axenfeld-Rieger syndrome.

Yun JW, Cho HK, Oh SY, Ki CS, Kee C.

Ann Lab Med. 2013 Sep;33(5):360-3. doi: 10.3343/alm.2013.33.5.360. Epub 2013 Aug 8.

20.

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

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