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Best matches for axenfeld-rieger syndrome:

A Family with Axenfeld-Rieger Syndrome: Report of the Clinical and Genetic Findings. Yang HJ et al. Korean J Ophthalmol. (2015)

Two cases of axenfeld-rieger syndrome, report of the complex pathology and treatment. Bender CA et al. Cleft Palate Craniofac J. (2014)

Axenfeld-Rieger syndrome: new perspectives. Chang TC et al. Br J Ophthalmol. (2012)

Search results

Items: 1 to 20 of 196

1.

A novel PITX2 mutation in non-syndromic oro-dental anomalies.

Intarak N, Theerapanon T, Ittiwut C, Suphapeetiporn K, Porntaveetus T, Shotelersuk V.

Oral Dis. 2017 Nov 9. doi: 10.1111/odi.12804. [Epub ahead of print]

PMID:
29121437
2.

4q25 microdeletion encompassing PITX2: A patient presenting with tetralogy of Fallot and dental anomalies without ocular features.

Vande Perre P, Zazo Seco C, Patat O, Bouneau L, Vigouroux A, Bourgeois D, El Hout S, Chassaing N, Calvas P.

Eur J Med Genet. 2017 Oct 31. pii: S1769-7212(17)30149-0. doi: 10.1016/j.ejmg.2017.10.018. [Epub ahead of print]

PMID:
29100920
3.

Axenfeld-Rieger syndrome.

Seifi M, Walter MA.

Clin Genet. 2017 Oct 3. doi: 10.1111/cge.13148. [Epub ahead of print] Review.

PMID:
28972279
4.

The rare Axenfeld-Rieger syndrome with systemic anomalies: A case report and brief review of literature.

Song W, Hu X.

Medicine (Baltimore). 2017 Aug;96(33):e7791. doi: 10.1097/MD.0000000000007791.

5.

A Chinese family with Axenfeld-Rieger syndrome: report of the clinical and genetic findings.

Sun DP, Dai YH, Pan XJ, Shan T, Wang DQ, Chen P.

Int J Ophthalmol. 2017 Jun 18;10(6):847-853. doi: 10.18240/ijo.2017.06.04. eCollection 2017.

6.

Novel Genetic Findings in a Chinese Family with Axenfeld-Rieger Syndrome.

Li K, Yang L, Liu Y, Lin D.

J Ophthalmol. 2017;2017:5078079. doi: 10.1155/2017/5078079. Epub 2017 Jun 13.

7.

Iris Malformation and Anterior Segment Dysgenesis in Mice and Humans With a Mutation in PI 3-Kinase.

Solheim MH, Clermont AC, Winnay JN, Hallstensen E, Molven A, Njølstad PR, Rødahl E, Kahn CR.

Invest Ophthalmol Vis Sci. 2017 Jun 1;58(7):3100-3106. doi: 10.1167/iovs.16-21347.

8.

A Novel Mutation in <i>PITX2</i> in a Patient with Axenfeld-Rieger Syndrome.

Hassed SJ, Li S, Xu W, Taylor AC.

Mol Syndromol. 2017 Mar;8(2):107-109. doi: 10.1159/000454963. Epub 2017 Jan 20.

9.

FOXC1 modulates MYOC secretion through regulation of the exocytic proteins RAB3GAP1, RAB3GAP2 and SNAP25.

Rasnitsyn A, Doucette L, Seifi M, Footz T, Raymond V, Walter MA.

PLoS One. 2017 Jun 2;12(6):e0178518. doi: 10.1371/journal.pone.0178518. eCollection 2017.

10.

Primary congenital and developmental glaucomas.

Lewis CJ, Hedberg-Buenz A, DeLuca AP, Stone EM, Alward WLM, Fingert JH.

Hum Mol Genet. 2017 Aug 1;26(R1):R28-R36. doi: 10.1093/hmg/ddx205.

PMID:
28549150
11.

Glaucoma spectrum and age-related prevalence of individuals with FOXC1 and PITX2 variants.

Souzeau E, Siggs OM, Zhou T, Galanopoulos A, Hodson T, Taranath D, Mills RA, Landers J, Pater J, Smith JE, Elder JE, Rait JL, Giles P, Phakey V, Staffieri SE, Kearns LS, Dubowsky A, Mackey DA, Hewitt AW, Ruddle JB, Burdon KP, Craig JE.

Eur J Hum Genet. 2017 Jun;25(7):839-847. doi: 10.1038/ejhg.2017.59. Epub 2017 May 17. Erratum in: Eur J Hum Genet. 2017 Nov;25(11):1290.

12.

Novel de novo FOXC1 nonsense mutation in an Axenfeld-Rieger syndrome patient.

Carmona S, da Luz Freitas M, Froufe H, Simões MJ, Sampaio MJ, Silva ED, Egas C.

Am J Med Genet A. 2017 Jun;173(6):1607-1610. doi: 10.1002/ajmg.a.38234. Epub 2017 Apr 21. No abstract available.

PMID:
28432732
13.

A novel mouse model of anterior segment dysgenesis (ASD): conditional deletion of Tsc1 disrupts ciliary body and iris development.

Hägglund AC, Jones I, Carlsson L.

Dis Model Mech. 2017 Mar 1;10(3):245-257. doi: 10.1242/dmm.028605.

14.

A de novo Pericentric Inversion in Chromosome 4 Associated with Disruption of PITX2 and a Microdeletion in 4p15.2 in a Patient with Axenfeld-Rieger Syndrome and Developmental Delay.

Maldžienė Ž, Preikšaitienė E, Ignotienė S, Kapitanova N, Utkus A, Kučinskas V.

Cytogenet Genome Res. 2017;151(1):5-9. doi: 10.1159/000456695. Epub 2017 Feb 23.

PMID:
28226328
15.

Unclassified Axenfeld-Rieger Syndrome: A CASE SERIES and Review of Literature.

Rao A, Padhy D, Sarangi S, Das G.

Semin Ophthalmol. 2016 Dec 8:1-8. doi: 10.1080/08820538.2016.1208767. [Epub ahead of print]

PMID:
27929720
16.

[Progressive moderate mitral regurgitation in a children with Axenfeld-Rieger syndrome. The importance of cardiologic follow up].

Sánchez Ferrer F, Grima Murcia MD.

Arch Argent Pediatr. 2016 Dec 1;114(6):e417-e420. doi: 10.5546/aap.2016.e417. Spanish.

17.

Comparison of Bioinformatics Prediction, Molecular Modeling, and Functional Analyses of FOXC1 Mutations in Patients with Axenfeld-Rieger Syndrome.

Seifi M, Footz T, Taylor SA, Walter MA.

Hum Mutat. 2017 Feb;38(2):169-179. doi: 10.1002/humu.23141. Epub 2016 Nov 21.

PMID:
27804176
18.

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.

19.

Axenfeld-Rieger Syndrome and Leukoencephalopathy Caused by a Mutation in FOXC1.

Kumar M, Chambers C, Dhamija R.

Pediatr Neurol. 2017 Jan;66:113-114. doi: 10.1016/j.pediatrneurol.2016.08.020. Epub 2016 Sep 9. No abstract available.

PMID:
27697311
20.

Heterozygous Pitx2 Null Mice Accurately Recapitulate the Ocular Features of Axenfeld-Rieger Syndrome and Congenital Glaucoma.

Chen L, Gage PJ.

Invest Ophthalmol Vis Sci. 2016 Sep 1;57(11):5023-5030. doi: 10.1167/iovs.16-19700.

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