Format
Sort by

Send to

Choose Destination

Links from PubMed

Items: 1 to 20 of 172

1.

A mutation in the RIEG1 gene associated with Peters' anomaly.

Doward W, Perveen R, Lloyd IC, Ridgway AE, Wilson L, Black GC.

J Med Genet. 1999 Feb;36(2):152-5.

2.

Three new PAX6 mutations including one causing an unusual ophthalmic phenotype associated with neurodevelopmental abnormalities.

Dansault A, David G, Schwartz C, Jaliffa C, Vieira V, de la Houssaye G, Bigot K, Catin F, Tattu L, Chopin C, Halimi P, Roche O, Van Regemorter N, Munier F, Schorderet D, Dufier JL, Marsac C, Ricquier D, Menasche M, Penfornis A, Abitbol M.

Mol Vis. 2007 Apr 2;13:511-23.

3.

PAX 6 is normal in most cases of Peters' anomaly.

Churchill AJ, Booth AP, Anwar R, Markham AF.

Eye (Lond). 1998;12 ( Pt 2):299-303.

PMID:
9683959
4.

Mutation in the RIEG1 gene in patients with iridogoniodysgenesis syndrome.

Kulak SC, Kozlowski K, Semina EV, Pearce WG, Walter MA.

Hum Mol Genet. 1998 Jul;7(7):1113-7.

5.

A novel mutation of PAX6 in Chinese patients with new clinical features of Peters' anomaly.

Jia X, Guo X, Jia X, Xiao X, Li S, Zhang Q.

Mol Vis. 2010 Apr 15;16:676-81.

6.

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
7.

Missense mutation in the alternative splice region of the PAX6 gene in eye anomalies.

Azuma N, Yamaguchi Y, Handa H, Hayakawa M, Kanai A, Yamada M.

Am J Hum Genet. 1999 Sep;65(3):656-63.

8.

Foxe3 haploinsufficiency in mice: a model for Peters' anomaly.

Ormestad M, Blixt A, Churchill A, Martinsson T, Enerb├Ąck S, Carlsson P.

Invest Ophthalmol Vis Sci. 2002 May;43(5):1350-7.

PMID:
11980846
9.

Peters' anomaly.

Jordan T.

Br J Ophthalmol. 1996 Jun;80(6):579-80. No abstract available.

10.

Axenfeld-Rieger syndrome in the age of molecular genetics.

Alward WL.

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

PMID:
11004268
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.

A new autosomal dominant Peters' anomaly phenotype expanding the anterior segment dysgenesis spectrum.

Berker N, Alanay Y, Elgin U, Volkan-Salanci B, Simsek T, Akarsu N, Alikasifoglu M.

Acta Ophthalmol. 2009 Feb;87(1):52-7. doi: 10.1111/j.1600-0420.2007.01082.x. Epub 2008 Jun 19.

13.

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
14.

[Rieger syndrome].

Ishikiriyama S.

Ryoikibetsu Shokogun Shirizu. 2000;(30 Pt 5):231-3. Review. Japanese. No abstract available.

PMID:
11057209
15.

Missense mutation at the C terminus of the PAX6 gene in ocular anterior segment anomalies.

Azuma N, Yamada M.

Invest Ophthalmol Vis Sci. 1998 Apr;39(5):828-30.

PMID:
9538891
16.

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
17.

PAX6 mutation as a genetic factor common to aniridia and glucose intolerance.

Yasuda T, Kajimoto Y, Fujitani Y, Watada H, Yamamoto S, Watarai T, Umayahara Y, Matsuhisa M, Gorogawa S, Kuwayama Y, Tano Y, Yamasaki Y, Hori M.

Diabetes. 2002 Jan;51(1):224-30.

18.

A case of aniridia with unilateral Peters anomaly.

Sawada M, Sato M, Hikoya A, Wang C, Minoshima S, Azuma N, Hotta Y.

J AAPOS. 2011 Feb;15(1):104-6. doi: 10.1016/j.jaapos.2010.11.006.

PMID:
21397818
19.

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
20.

Variable phenotype related to a novel PAX 6 mutation (IVS4+5G>C) in a family presenting congenital nystagmus and foveal hypoplasia.

Vincent MC, Gallai R, Olivier D, Speeg-Schatz C, Flament J, Calvas P, Dollfus H.

Am J Ophthalmol. 2004 Dec;138(6):1016-21.

PMID:
15629294
Items per page

Supplemental Content

Write to the Help Desk