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Axenfeld-Rieger syndrome.
Seifi M, Walter MA. Seifi M, et al. Clin Genet. 2018 Jun;93(6):1123-1130. doi: 10.1111/cge.13148. Epub 2018 Jan 25. Clin Genet. 2018. PMID: 28972279 Review.
Axenfeld-Rieger syndrome (ARS) is a clinically and genetically heterogeneous group of developmental disorders affecting primarily the anterior segment of the eye, often leading to secondary glaucoma. ...
Axenfeld-Rieger syndrome (ARS) is a clinically and genetically heterogeneous group of developmental disorders affecting …
Unclassified Axenfeld-Rieger Syndrome: A CASE SERIES and Review of Literature.
Rao A, Padhy D, Sarangi S, Das G. Rao A, et al. Semin Ophthalmol. 2018;33(3):300-307. doi: 10.1080/08820538.2016.1208767. Epub 2016 Dec 8. Semin Ophthalmol. 2018. PMID: 27929720 Review.
PURPOSE: To report anterior segment features in unclassified anterior segment dysgenesis with overlapping features of Axenfeld-Rieger syndrome and other developmental anomalies. METHODS: This retrospective study included those with atypical or overlapping fea …
PURPOSE: To report anterior segment features in unclassified anterior segment dysgenesis with overlapping features of Axenfeld-Rie …
Craniofacial and dental features of Axenfeld-Rieger syndrome patients with PITX2 mutations.
Arte S, Pöyhönen M, Myllymäki E, Ronkainen E, Rice DP, Nieminen P. Arte S, et al. Orthod Craniofac Res. 2023 Aug;26(3):320-330. doi: 10.1111/ocr.12631. Epub 2023 Jan 18. Orthod Craniofac Res. 2023. PMID: 36620911 Review.
We aimed to characterize the genetic basis and craniofacial and dental features of Finnish patients with Axenfeld-Rieger syndrome (ARS). Mutational analyses of seven patients in five families were performed by sequencing or comparative genomic hybridization. …
We aimed to characterize the genetic basis and craniofacial and dental features of Finnish patients with Axenfeld-Rieger sy …
Mechanistic Insights into Axenfeld-Rieger Syndrome from Zebrafish foxc1 and pitx2 Mutants.
French CR. French CR. Int J Mol Sci. 2021 Sep 16;22(18):10001. doi: 10.3390/ijms221810001. Int J Mol Sci. 2021. PMID: 34576164 Free PMC article. Review.
Axenfeld-Rieger syndrome (ARS) encompasses a group of developmental disorders that affect the anterior segment of the eye, as well as systemic developmental defects in some patients. ...
Axenfeld-Rieger syndrome (ARS) encompasses a group of developmental disorders that affect the anterior segment of the e …
Genotype-phenotype association of PITX2 and FOXC1 in Axenfeld-Rieger syndrome.
Zhou L, Wang X, An J, Zhang Y, He M, Tang L. Zhou L, et al. Exp Eye Res. 2023 Jan;226:109307. doi: 10.1016/j.exer.2022.109307. Epub 2022 Nov 25. Exp Eye Res. 2023. PMID: 36442680 Free article. Review.
PITX2 and FOXC1 are the most common pathogenic genes associated with Axenfeld-Rieger syndrome (ARS). In this study, we aimed to explore the variation spectrum of PITX2 and FOXC1 and their associated phenotype based on data from our study and previously report …
PITX2 and FOXC1 are the most common pathogenic genes associated with Axenfeld-Rieger syndrome (ARS). In this study, we …
Axenfeld-Rieger syndrome: new perspectives.
Chang TC, Summers CG, Schimmenti LA, Grajewski AL. Chang TC, et al. Br J Ophthalmol. 2012 Mar;96(3):318-22. doi: 10.1136/bjophthalmol-2011-300801. Epub 2011 Dec 23. Br J Ophthalmol. 2012. PMID: 22199394 Review.
Axenfeld-Rieger syndrome is a genetic disease affecting multiple organ systems. ...Recent advances in molecular genetics have identified two major genes, PITX2 and FOXC1, demonstrating a wide spectrum of mutations, which aids in the molecular diagnosis of the …
Axenfeld-Rieger syndrome is a genetic disease affecting multiple organ systems. ...Recent advances in molecular genetic …
Axenfeld-Rieger syndrome: a novel histopathologic finding associated with corneal abnormalities.
Yu T, Dai Z, Peng R, Xiao G, Zhang P, Ma S, Hong J. Yu T, et al. BMC Ophthalmol. 2022 Dec 28;22(1):514. doi: 10.1186/s12886-022-02754-8. BMC Ophthalmol. 2022. PMID: 36577962 Free PMC article. Review.
BACKGROUND: Axenfeld-Rieger syndrome (ARS) is a rare kind of anterior segment dysgenesis (ASD). ...
BACKGROUND: Axenfeld-Rieger syndrome (ARS) is a rare kind of anterior segment dysgenesis (ASD). ...
Aniridia and Axenfeld-Rieger Syndrome: Clinical presentations, molecular genetics and current/emerging therapies.
Chrystal PW, Walter MA. Chrystal PW, et al. Exp Eye Res. 2019 Dec;189:107815. doi: 10.1016/j.exer.2019.107815. Epub 2019 Sep 24. Exp Eye Res. 2019. PMID: 31560925 Review.
Aniridia and Axenfeld-Rieger Syndrome are related, human ocular disorders that are typically inherited in an autosomal dominant manner. ...This review will focus on describing the clinical presentations of Aniridia and Axenfeld-Rieger Syndrom …
Aniridia and Axenfeld-Rieger Syndrome are related, human ocular disorders that are typically inherited in an autosomal …
Axenfeld-Rieger syndrome and spectrum of PITX2 and FOXC1 mutations.
Tümer Z, Bach-Holm D. Tümer Z, et al. Eur J Hum Genet. 2009 Dec;17(12):1527-39. doi: 10.1038/ejhg.2009.93. Epub 2009 Jun 10. Eur J Hum Genet. 2009. PMID: 19513095 Free PMC article. Review.
Axenfeld-Rieger syndrome (ARS) is a rare autosomal dominant disorder, which encompasses a range of congential malformations affecting the anterior segment of the eye. ...
Axenfeld-Rieger syndrome (ARS) is a rare autosomal dominant disorder, which encompasses a range of congential malformat …
33 results