Literature DB >> 32699063

A case of Axenfeld-Rieger syndrome (ARS) with asymmetric ocular phenotypes and left glaucomatous optic atrophy.

Athul Suresh Puthalath1, Ajai Agrawal1, Rimpi Rana1, Ramanuj Samanta2.   

Abstract

Entities:  

Keywords:  glaucoma; iris

Mesh：

Year:  2020        PMID： 32699063      PMCID： PMC7380832          DOI： 10.1136/bcr-2020-237224

Source DB:  PubMed          Journal:  BMJ Case Rep        ISSN： 1757-790X


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  10 in total

1.  Digenic inheritance of mutations in FOXC1 and PITX2 : correlating transcription factor function and Axenfeld-Rieger disease severity.

Authors:  Daniel Kelberman; Lily Islam; Susan E Holder; Thomas S Jacques; Patrick Calvas; Raoul C Hennekam; Ken K Nischal; Jane C Sowden
Journal:  Hum Mutat       Date:  2011-09-08       Impact factor: 4.878

Review 2.  Current molecular understanding of Axenfeld-Rieger syndrome.

Authors:  Tord A Hjalt; Elena V Semina
Journal:  Expert Rev Mol Med       Date:  2005-11-08       Impact factor: 5.600

Review 3.  Peters anomaly: review of the literature.

Authors:  Ramanath Bhandari; Sara Ferri; Beatrice Whittaker; Margaret Liu; Douglas R Lazzaro
Journal:  Cornea       Date:  2011-08       Impact factor: 2.651

4.  Unusual presentation in Axenfeld-Rieger syndrome.

Authors:  Rajul S Parikh; Shefali R Parikh; B Debashish; B L Harsha; Ravi Thomas
Journal:  Indian J Ophthalmol       Date:  2011 Jul-Aug       Impact factor: 1.848

Review 5.  Axenfeld-Rieger syndrome. A spectrum of developmental disorders.

Authors:  M B Shields; E Buckley; G K Klintworth; R Thresher
Journal:  Surv Ophthalmol       Date:  1985 May-Jun       Impact factor: 6.048

6.  Phenotypic variability and asymmetry of Rieger syndrome associated with PITX2 mutations.

Authors:  R Perveen; I C Lloyd; J Clayton-Smith; A Churchill; V van Heyningen; I Hanson; D Taylor; C McKeown; M Super; B Kerr; R Winter; G C Black
Journal:  Invest Ophthalmol Vis Sci       Date:  2000-08       Impact factor: 4.799

7.  Asymmetric phenotype of Axenfeld-Rieger anomaly and aniridia associated with a novel PITX2 mutation.

Authors:  Simon K Law; Maha Sami; Natik Piri; Anne L Coleman; Joseph Caprioli
Journal:  Mol Vis       Date:  2011-05-06       Impact factor: 2.367

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

Authors:  Wei Song; Xiaodan Hu
Journal:  Medicine (Baltimore)       Date:  2017-08       Impact factor: 1.889

Review 9.  SHORT syndrome in a two-year-old girl - case report.

Authors:  Maria Klatka; Izabela Rysz; Katarzyna Kozyra; Agnieszka Polak; Witold Kołłątaj
Journal:  Ital J Pediatr       Date:  2017-05-04       Impact factor: 2.638

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

Authors:  Emmanuelle Souzeau; Owen M Siggs; Tiger Zhou; Anna Galanopoulos; Trevor Hodson; Deepa Taranath; Richard A Mills; John Landers; John Pater; James E Smith; James E Elder; Julian L Rait; Paul Giles; Vivek Phakey; Sandra E Staffieri; Lisa S Kearns; Andrew Dubowsky; David A Mackey; Alex W Hewitt; Jonathan B Ruddle; Kathryn P Burdon; Jamie E Craig
Journal:  Eur J Hum Genet       Date:  2017-05-17       Impact factor: 4.246
  10 in total

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