Literature DB >> 27381094

Clinical utility gene card for: Aniridia.

Rose Richardson1, Melanie Hingorani2, Veronica Van Heyningen1, Cheryl Gregory-Evans3, Mariya Moosajee1,2,4.   

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Year:  2016        PMID： 27381094      PMCID： PMC5110069          DOI： 10.1038/ejhg.2016.73

Source DB:  PubMed          Journal:  Eur J Hum Genet        ISSN： 1018-4813            Impact factor:   4.246


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  24 in total

1.  Mutational analysis of PAX6: 16 novel mutations including 5 missense mutations with a mild aniridia phenotype.

Authors:  K Grønskov; T Rosenberg; A Sand; K Brøndum-Nielsen
Journal:  Eur J Hum Genet       Date:  1999-04       Impact factor: 4.246

2.  Aniridia.

Authors:  Peng T Khaw
Journal:  J Glaucoma       Date:  2002-04       Impact factor: 2.503

3.  Mutations of the PAX6 gene detected in patients with a variety of optic-nerve malformations.

Authors:  Noriyuki Azuma; Yuki Yamaguchi; Hiroshi Handa; Keiko Tadokoro; Atsuko Asaka; Eriko Kawase; Masao Yamada
Journal:  Am J Hum Genet       Date:  2003-04-29       Impact factor: 11.025

4.  Prenatal diagnosis of aniridia.

Authors:  A J Churchill; I M Hanson; A F Markham
Journal:  Ophthalmology       Date:  2000-06       Impact factor: 12.079

5.  Ocular and nonocular findings in patients with aniridia.

Authors:  Alejandra Valenzuela; Roy A Cline
Journal:  Can J Ophthalmol       Date:  2004-10       Impact factor: 1.882

6.  Genetic analysis of chromosome 11p13 and the PAX6 gene in a series of 125 cases referred with aniridia.

Authors:  David O Robinson; Rachel J Howarth; Kathleen A Williamson; Veronica van Heyningen; Sarah J Beal; John A Crolla
Journal:  Am J Med Genet A       Date:  2008-03-01       Impact factor: 2.802

7.  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

8.  National study of microphthalmia, anophthalmia, and coloboma (MAC) in Scotland: investigation of genetic aetiology.

Authors:  D Morrison; D FitzPatrick; I Hanson; K Williamson; V van Heyningen; B Fleck; I Jones; J Chalmers; H Campbell
Journal:  J Med Genet       Date:  2002-01       Impact factor: 6.318

9.  Frequent chromosome aberrations revealed by molecular cytogenetic studies in patients with aniridia.

Authors:  John A Crolla; Veronica van Heyningen
Journal:  Am J Hum Genet       Date:  2002-10-17       Impact factor: 11.025

10.  Auditory interhemispheric transfer deficits, hearing difficulties, and brain magnetic resonance imaging abnormalities in children with congenital aniridia due to PAX6 mutations.

Authors:  Doris-Eva Bamiou; Samantha L Free; Sanjay M Sisodiya; Wui K Chong; Frank Musiek; Kathleen A Williamson; Veronica van Heyningen; Anthony T Moore; David Gadian; Linda M Luxon
Journal:  Arch Pediatr Adolesc Med       Date:  2007-05
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  5 in total

1.  Improving molecular diagnosis of aniridia and WAGR syndrome using customized targeted array-based CGH.

Authors:  Fiona Blanco-Kelly; María Palomares; Elena Vallespín; Cristina Villaverde; Rubén Martín-Arenas; Camilo Vélez-Monsalve; Isabel Lorda-Sánchez; Julián Nevado; María José Trujillo-Tiebas; Pablo Lapunzina; Carmen Ayuso; Marta Corton
Journal:  PLoS One       Date:  2017-02-23       Impact factor: 3.240

Review 2.  Advancing precision medicines for ocular disorders: Diagnostic genomics to tailored therapies.

Authors:  Priyalakshmi Panikker; Shomereeta Roy; Anuprita Ghosh; B Poornachandra; Arkasubhra Ghosh
Journal:  Front Med (Lausanne)       Date:  2022-07-15

3.  Long-term outcomes in Primary congenital glaucoma, aniridia and anterior segment dysgenesis.

Authors:  Tejal Magan; Alexander Tanner; Julia Fajardo-Sanchez; Kin Sheng Lim; Saurabh Goyal; Ian Rodrigues; Luis Amaya; Sameer Trikha; Avinash Kulkarni; Christopher Hammond; Gerassimos Lascaratos; Cynthia Yu-Wai-Man
Journal:  Eur J Ophthalmol       Date:  2022-01-10       Impact factor: 1.922

4.  Epistasis between Pax6Sey and genetic background reinforces the value of defined hybrid mouse models for therapeutic trials.

Authors:  Jack W Hickmott; Uvini Gunawardane; Kimberly Jensen; Andrea J Korecki; Elizabeth M Simpson
Journal:  Gene Ther       Date:  2018-09-26       Impact factor: 5.250

Review 5.  The Spectrum of PAX6 Mutations and Genotype-Phenotype Correlations in the Eye.

Authors:  Dulce Lima Cunha; Gavin Arno; Marta Corton; Mariya Moosajee
Journal:  Genes (Basel)       Date:  2019-12-17       Impact factor: 4.096
  5 in total

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