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Items: 20

1.

Axenfeld-Rieger syndrome: new perspectives.

Chang TC, Summers CG, Schimmenti LA, Grajewski AL.

Br J Ophthalmol. 2012 Mar;96(3):318-22. doi: 10.1136/bjophthalmol-2011-300801. Epub 2011 Dec 23. Review.

PMID:
22199394
2.

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.

3.

A zebrafish model of axenfeld-rieger syndrome reveals that pitx2 regulation by retinoic acid is essential for ocular and craniofacial development.

Bohnsack BL, Kasprick DS, Kish PE, Goldman D, Kahana A.

Invest Ophthalmol Vis Sci. 2012 Jan 3;53(1):7-22. doi: 10.1167/iovs.11-8494.

4.

Studies on Axenfeld-Rieger syndrome patients and mice reveal Foxc1's role in corneal neovascularization.

François M, Ramchandran R.

Proc Natl Acad Sci U S A. 2012 Feb 7;109(6):1818-9. doi: 10.1073/pnas.1119291109. Epub 2012 Jan 30. No abstract available.

5.

[Glaucoma with primary iris malformations. Axenfeld-Rieger syndromes, ICE syndromes (essential iris atrophy, Chandler's syndrome, Cogan-Reese syndrome), aniridia].

Ninios K, Jonescu-Cuypers CP, Seitz B.

Ophthalmologe. 2011 Jun;108(6):585-93; quiz 594. doi: 10.1007/s00347-011-2372-3. Review. German.

PMID:
21695610
6.

Unusual presentation in Axenfeld-Rieger syndrome.

Parikh RS, Parikh SR, Debashish B, Harsha BL, Thomas R.

Indian J Ophthalmol. 2011 Jul-Aug;59(4):312-4. doi: 10.4103/0301-4738.82003.

7.

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
8.

Axenfeld-Rieger syndrome in the age of molecular genetics.

Alward WL.

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

PMID:
11004268
9.

Axenfeld-Rieger syndrome (ARS): A review and case report.

Waldron JM, McNamara C, Hewson AR, McNamara CM.

Spec Care Dentist. 2010 Sep-Oct;30(5):218-22. doi: 10.1111/j.1754-4505.2010.00153.x. Epub 2010 Aug 17. Review.

PMID:
20831741
10.

Axenfeld-Rieger syndrome. A spectrum of developmental disorders.

Shields MB, Buckley E, Klintworth GK, Thresher R.

Surv Ophthalmol. 1985 May-Jun;29(6):387-409. Review.

PMID:
3892740
11.

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
12.

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.

13.

[Axenfeld-Rieger syndrome].

Sauer A, Speeg-Schatz C.

J Fr Ophtalmol. 2012 May;35(5):392. doi: 10.1016/j.jfo.2011.10.005. Epub 2012 Mar 30. French. No abstract available.

14.

Axenfeld-Rieger syndrome: dentofacial manifestation and oral rehabilitation considerations.

Berenstein-Aizman G, Hazan-Molina H, Drori D, Aizenbud D.

Pediatr Dent. 2011 Sep-Oct;33(5):440-4.

PMID:
22104715
15.

Axenfeld-Rieger spectrum in a patient with 45,X Turner syndrome.

Abdalla EM, Nabil KM.

Ophthalmic Genet. 2012 Jun;33(2):111-5. doi: 10.3109/13816810.2011.634880. Epub 2012 Jan 9.

PMID:
22229795
16.

Current molecular understanding of Axenfeld-Rieger syndrome.

Hjalt TA, Semina EV.

Expert Rev Mol Med. 2005 Nov 8;7(25):1-17. Review.

PMID:
16274491
17.

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.

18.

Familial Axenfeld-Rieger anomaly, cardiac malformations, and sensorineural hearing loss: a provisionally unique genetic syndrome?

Grosso S, Farnetani MA, Berardi R, Vivarelli R, Vanni M, Morgese G, Balestri P.

Am J Med Genet. 2002 Aug 1;111(2):182-6.

PMID:
12210347
20.

Dental anomalies in Axenfeld-Rieger syndrome.

O'Dwyer EM, Jones DC.

Int J Paediatr Dent. 2005 Nov;15(6):459-63.

PMID:
16238657

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