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在“Elsevier电子期刊”中，命中：17条，耗时：0.0289846 秒

在所有数据库中总计命中：2条

1.Biallelic Mutation of ARHGEF18, Involved in the Determination of Epithelial Apicobasal Polarity, Causes Adult-Onset Retinal Degeneration

作者：Gavin Arno¹ ; ² ; Keren J. Carss³ ; ⁴ ; Sarah Hull¹ ; ² ; Ceniz Zihni¹ ; Anthony G. Robson¹ ; ² ; Alessia Fiorentino¹ ; UK Inherited Retinal Disease Consortium Graeme Black ; Georgina Hall ; Stuart Ingram ; Rachel Gillespie ; Forbes Manson ; Panagiotis Sergouniotis ; Chris Inglehearn ; Carmel Toomes ; Manir Ali ; Martin McKibbin ; James Poulter ; Kamron Khan ; Emma Lord ; Andrea Nemeth ; Susan Downes ; Stephanie Halford ; Jing Yu ; Stefano Lise ; Gavin Arno ; Alessia Fiorentino ; Nikos Ponitkos ; Vincent Plagnol ; Michel Michaelides ; Alison J. Hardcastle ; Michael E. Cheetham ; Andrew R. Webster ; Veronica van Heyningen

关键词：retinitis pigmentosa ; inherited retinal dystrophy ; retinal degeneration ; ARHGEF18 ; p114RhoGEF ; apicobasal polarity

刊名：The American Journal of Human Genetics

出版年：2017

2.Heterozygous Loss-of-Function Mutations in YAP1 Cause Both Isolated and Syndromic Optic Fissure Closure Defects

作者：Kathleen聽A. Williamson ; Joe Rainger ; James聽A.B. Floyd ; Morad Ansari ; Alison Meynert ; Kishan聽V. Aldridge ; Jacqueline聽K. Rainger ; Carl聽A. Anderson ; Anthony聽T. Moore ; Matthew聽E. Hurles ; Angus Clarke ; Veronica van聽Heyningen ; Alain Verloes ; Martin聽S. Taylor ; Andrew聽O.M. Wilkie ; UK10K Consortium ; David聽R. FitzPatrick

刊名：The American Journal of Human Genetics

出版年：6 February, 2014

3.Disruption of Autoregulatory Feedback by a Mutation in a Remote, Ultraconserved PAX6 Enhancer Causes Aniridia

作者：Shipra Bhatia ; Hemant Bengani ; Margaret Fish ; Alison Brown ; Maria聽Teresa Divizia ; Riccardo de聽Marco ; Guiseppe Damante ; Robert Grainger ; Veronica van聽Heyningen ; Dirk聽A. Kleinjan

刊名：The American Journal of Human Genetics

出版年：5 December, 2013

4.Incapacitating the evolutionary capacitor: Hsp90 modulation of disease

作者：Patricia L. Yeyati ; Veronica van Heyningen

刊名：Current Opinion in Genetics & Development

出版年：2008

5.GDF6,

作者：Mika Asai-Coakwell ; Curtis R. French ; Karyn M. Berry ; Ming Ye ; Ron Koss ; Martin Somerville ; Rosemary Mueller ; Veronica van Heyningen ; Andrew J. Waskiewicz ; Ordan J. Lehmann

刊名：The American Journal of Human Genetics

出版年：2007

6.Long-range downstream enhancers are essential for Pax6 expression

作者：Dirk A. Kleinjan ; Anne Seawright ; Sebastien Mella ; Catherine B. Carr ; David A. Tyas ; T. Ian Simpson ; John O. Mason ; David J. Price and Veronica van Heyningen

关键词：Pax6 gene regulation ; Long-range enhancer ; Transgenic mouse ; Yeast artificial chromosome ; Green fluorescent protein ; Eye development ; Paired-less isoform ; Microphthalamia

刊名：Developmental Biology

出版年：2006

7.Expression analysis of SIX3 and SIX6 in human tissues reveals differences in expression and a novel correlation between the expression of SIX3 and the genes encoding isocitrate dehyhrogenase and cadherin 18

作者：Aijaz ; Saima ; Allen ; Jennifer ; Tregidgo ; Robert ; van Heyningen ; Veronica ; Hanson ; Isabel ; Clark ; Brian J.

关键词：SIX3 ; SIX6 ; Expression analysis ; Real-time quantitative PCR

刊名：Genomics

出版年：2005

8.Conserved elements in Pax6 intron 7 involved in (auto)regulation and alternative transcription

作者：Kleinjan ; Dirk A. ; Seawright ; Anne ; Childs ; Andrew J. ; van Heyningen ; Veronica

关键词：Pax6 ; Transcriptional regulation ; Evolutionary conservation ; Autoregulation

刊名：Developmental Biology

出版年：2004

9.Developmental eye disorders

作者：FitzPatrick ; David R ; Heyningen ; Veronica van

刊名：Current Opinion in Genetics & Development

出版年：2005

10.Long-Range Control of Gene Expression: Emerging Mechanisms and Disruption in Disease

作者：Dirk A. Kleinjan ; Veronica van Heyningen

刊名：The American Journal of Human Genetics

出版年：2005

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