Literature DB >> 31392423

Through the looking glass: eye anomalies in the age of molecular science.

Patrick Calvas1, Elias I Traboulsi2, Nicola Ragge3,4.   

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Year:  2019        PMID: 31392423     DOI: 10.1007/s00439-019-02056-y

Source DB:  PubMed          Journal:  Hum Genet        ISSN: 0340-6717            Impact factor:   4.132


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  25 in total

1.  New GJA8 variants and phenotypes highlight its critical role in a broad spectrum of eye anomalies.

Authors:  Fabiola Ceroni; Domingo Aguilera-Garcia; Nicolas Chassaing; Dorine Arjanne Bax; Fiona Blanco-Kelly; Patricia Ramos; Maria Tarilonte; Cristina Villaverde; Luciana Rodrigues Jacy da Silva; Maria Juliana Ballesta-Martínez; Maria Jose Sanchez-Soler; Richard James Holt; Lisa Cooper-Charles; Jonathan Bruty; Yvonne Wallis; Dominic McMullan; Jonathan Hoffman; David Bunyan; Alison Stewart; Helen Stewart; Katherine Lachlan; Alan Fryer; Victoria McKay; Joëlle Roume; Pascal Dureau; Anand Saggar; Michael Griffiths; Patrick Calvas; Carmen Ayuso; Marta Corton; Nicola K Ragge
Journal:  Hum Genet       Date:  2018-02-20       Impact factor: 4.132

Review 2.  Genetics of congenital eye malformations: insights from chick experimental embryology.

Authors:  Paola Bovolenta; Juan-Ramón Martinez-Morales
Journal:  Hum Genet       Date:  2018-07-06       Impact factor: 4.132

Review 3.  Axenfeld-Rieger syndrome in the age of molecular genetics.

Authors:  W L Alward
Journal:  Am J Ophthalmol       Date:  2000-07       Impact factor: 5.258

4.  Epidemiology of anophthalmia and microphthalmia: Prevalence and patterns in Texas, 1999-2009.

Authors:  Tiffany M Chambers; A J Agopian; Richard A Lewis; Peter H Langlois; Heather E Danysh; Kari A Weber; Gary M Shaw; Laura E Mitchell; Philip J Lupo
Journal:  Am J Med Genet A       Date:  2018-08-02       Impact factor: 2.802

Review 5.  Peters' anomaly and associated congenital malformations.

Authors:  E I Traboulsi; I H Maumenee
Journal:  Arch Ophthalmol       Date:  1992-12

6.  SOX2 anophthalmia syndrome.

Authors:  Nicola K Ragge; Birgit Lorenz; Adele Schneider; Kate Bushby; Luisa de Sanctis; Ugo de Sanctis; Alison Salt; J Richard O Collin; Anthony J Vivian; Samantha L Free; Pamela Thompson; Kathleen A Williamson; Sanjay M Sisodiya; Veronica van Heyningen; David R Fitzpatrick
Journal:  Am J Med Genet A       Date:  2005-05-15       Impact factor: 2.802

7.  Mutations in SOX2 cause anophthalmia.

Authors:  Judy Fantes; Nicola K Ragge; Sally-Ann Lynch; Niolette I McGill; J Richard O Collin; Patricia N Howard-Peebles; Caroline Hayward; Anthony J Vivian; Kathy Williamson; Veronica van Heyningen; David R FitzPatrick
Journal:  Nat Genet       Date:  2003-03-03       Impact factor: 38.330

8.  Novel mutations in PAX6, OTX2 and NDP in anophthalmia, microphthalmia and coloboma.

Authors:  Brett Deml; Linda M Reis; Emmanuelle Lemyre; Robin D Clark; Ariana Kariminejad; Elena V Semina
Journal:  Eur J Hum Genet       Date:  2015-07-01       Impact factor: 4.246

Review 9.  The hedgehog pathway and ocular developmental anomalies.

Authors:  Florencia Cavodeassi; Sophie Creuzet; Heather C Etchevers
Journal:  Hum Genet       Date:  2018-08-02       Impact factor: 4.132

10.  The human PAX6 gene is mutated in two patients with aniridia.

Authors:  T Jordan; I Hanson; D Zaletayev; S Hodgson; J Prosser; A Seawright; N Hastie; V van Heyningen
Journal:  Nat Genet       Date:  1992-08       Impact factor: 38.330

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