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Results: 1 to 20 of 119

1.

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.

PMID:
22569110
[PubMed - indexed for MEDLINE]
Free PMC Article
2.

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
[PubMed - indexed for MEDLINE]
3.

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
[PubMed - indexed for MEDLINE]
Free Article
4.

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
5.

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
6.

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
7.

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]
8.

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]
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
[PubMed - indexed for MEDLINE]
Free Article
10.

Absence of PITX2, BARX1, and FOXC1 mutations in De Hauwere syndrome (Axenfeld-Rieger anomaly, hydrocephaly, hearing loss): a 25-year follow up.

Lowry RB, Gould DB, Walter MA, Savage PR.

Am J Med Genet A. 2007 Jun 1;143A(11):1227-30.

PMID:
17486624
[PubMed - indexed for MEDLINE]
11.

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.

PMID:
19513095
[PubMed - indexed for MEDLINE]
Free PMC Article
12.

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.

PMID:
24003428
[PubMed - indexed for MEDLINE]
Free PMC Article
13.

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]
14.

Digenic inheritance of mutations in FOXC1 and PITX2 : correlating transcription factor function and Axenfeld-Rieger disease severity.

Kelberman D, Islam L, Holder SE, Jacques TS, Calvas P, Hennekam RC, Nischal KK, Sowden JC.

Hum Mutat. 2011 Oct;32(10):1144-52. doi: 10.1002/humu.21550. Epub 2011 Sep 8.

PMID:
21837767
[PubMed - indexed for MEDLINE]
15.

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
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.

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
[PubMed - indexed for MEDLINE]
18.

Identification of a novel frameshift mutation in PITX2 gene in a Chinese family with Axenfeld-Rieger syndrome.

Yin HF, Fang XY, Jin CF, Yin JF, Li JY, Zhao SJ, Miao Q, Song FW.

J Zhejiang Univ Sci B. 2014 Jan;15(1):43-50. doi: 10.1631/jzus.B1300053.

PMID:
24390743
[PubMed - indexed for MEDLINE]
Free PMC Article
19.

Potential novel mechanism for Axenfeld-Rieger syndrome: deletion of a distant region containing regulatory elements of PITX2.

Volkmann BA, Zinkevich NS, Mustonen A, Schilter KF, Bosenko DV, Reis LM, Broeckel U, Link BA, Semina EV.

Invest Ophthalmol Vis Sci. 2011 Mar 18;52(3):1450-9. doi: 10.1167/iovs.10-6060. Print 2011 Mar.

PMID:
20881290
[PubMed - indexed for MEDLINE]
Free PMC Article
20.

Characterization and prevalence of PITX2 microdeletions and mutations in Axenfeld-Rieger malformations.

Lines MA, Kozlowski K, Kulak SC, Allingham RR, Héon E, Ritch R, Levin AV, Shields MB, Damji KF, Newlin A, Walter MA.

Invest Ophthalmol Vis Sci. 2004 Mar;45(3):828-33.

PMID:
14985297
[PubMed - indexed for MEDLINE]
Free Article

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