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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. In the eye, this condition manifests with varying degrees of anterior segment dysgenesis and carries a high risk of glaucoma. ...The management of individuals affected by Axenf
Axenfeld-Rieger syndrome is a genetic disease affecting multiple organ systems. In the eye, this condition manifests wi
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: 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). The most common ocular features of ARS are posterior embryotoxon and iris hypoplasia, while some patients may manifest as corneal opacity and edema. ...
BACKGROUND: Axenfeld-Rieger syndrome (ARS) is a rare kind of anterior segment dysgenesis (ASD). The most common ocular …
36 results