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Items: 1 to 20 of 101

1.

Mutations in PITX2 may contribute to cases of omphalocele and VATER-like syndromes.

Katz LA, Schultz RE, Semina EV, Torfs CP, Krahn KN, Murray JC.

Am J Med Genet A. 2004 Oct 15;130A(3):277-83.

PMID:
15378534
2.

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.

3.

A novel PITX2 mutation in a Chinese family with Axenfeld-Rieger syndrome.

Li D, Zhu Q, Lin H, Zhou N, Qi Y.

Mol Vis. 2008;14:2205-10. Epub 2008 Dec 5.

5.

Functional analyses of two newly identified PITX2 mutants reveal a novel molecular mechanism for Axenfeld-Rieger syndrome.

Priston M, Kozlowski K, Gill D, Letwin K, Buys Y, Levin AV, Walter MA, Héon E.

Hum Mol Genet. 2001 Aug 1;10(16):1631-8.

PMID:
11487566
6.

A novel homeobox mutation in the PITX2 gene in a family with Axenfeld-Rieger syndrome associated with brain, ocular, and dental phenotypes.

Idrees F, Bloch-Zupan A, Free SL, Vaideanu D, Thompson PJ, Ashley P, Brice G, Rutland P, Bitner-Glindzicz M, Khaw PT, Fraser S, Sisodiya SM, Sowden JC.

Am J Med Genet B Neuropsychiatr Genet. 2006 Mar 5;141B(2):184-91.

PMID:
16389592
7.

Identification of a dominant negative homeodomain mutation in Rieger syndrome.

Saadi I, Semina EV, Amendt BA, Harris DJ, Murphy KP, Murray JC, Russo AF.

J Biol Chem. 2001 Jun 22;276(25):23034-41. Epub 2001 Apr 11.

8.

Rieger syndrome: a clinical, molecular, and biochemical analysis.

Amendt BA, Semina EV, Alward WL.

Cell Mol Life Sci. 2000 Oct;57(11):1652-66. Review.

PMID:
11092457
9.

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
10.

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.

11.

Phenotypic variability and asymmetry of Rieger syndrome associated with PITX2 mutations.

Perveen R, Lloyd IC, Clayton-Smith J, Churchill A, van Heyningen V, Hanson I, Taylor D, McKeown C, Super M, Kerr B, Winter R, Black GC.

Invest Ophthalmol Vis Sci. 2000 Aug;41(9):2456-60.

PMID:
10937553
12.
13.

A novel mutation in the PITX2 gene in a family with Axenfeld-Rieger syndrome.

Brooks BP, Moroi SE, Downs CA, Wiltse S, Othman MI, Semina EV, Richards JE.

Ophthalmic Genet. 2004 Mar;25(1):57-62.

PMID:
15255117
14.

Four novel mutations in the PITX2 gene in patients with Axenfeld-Rieger syndrome.

Phillips JC.

Ophthalmic Res. 2002 Sep-Oct;34(5):324-6.

PMID:
12381896
15.

Novel PITX2 gene mutations in patients with Axenfeld-Rieger syndrome.

Seifi M, Footz T, Taylor SA, Elhady GM, Abdalla EM, Walter MA.

Acta Ophthalmol. 2016 Nov;94(7):e571-e579. doi: 10.1111/aos.13030. Epub 2016 Mar 24.

16.

Analysis of RNA splicing defects in PITX2 mutants supports a gene dosage model of Axenfeld-Rieger syndrome.

Maciolek NL, Alward WL, Murray JC, Semina EV, McNally MT.

BMC Med Genet. 2006 Jul 11;7:59.

17.

A molecular basis for differential developmental anomalies in Axenfeld-Rieger syndrome.

Espinoza HM, Cox CJ, Semina EV, Amendt BA.

Hum Mol Genet. 2002 Apr 1;11(7):743-53.

PMID:
11929847
18.

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.

19.

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
20.

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

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