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ARVO Annual Meeting Abstract July 2019

Targeted identification of reported deep-intronic variants in ABCA4 in 224 French Stargardt disease cases

Claire-Marie DHAENENS; Mubeen Khan; Aurore Devos; Charlene Piriou; Duaa ELMELIK; Eline Manders; Emeline Goreki; Yaumara Perdomo; Helene Dollfus; Xavier Zanlonghi; Béatrice Bocquet; Isabelle Anne Meunier; Bernard Puech; Sabine defoort; Frans P Cremers

Invest. Ophthalmol. Vis. Sci.. 2019; 60(9):4930. doi:

ARVO Annual Meeting Abstract July 2018

CRISPR-derived mouse model of North Carolina Macular Dystrophy reveals in trans tissue-specific upregulation of PRDM13

Raquel Sofia Silva; Katerina Kraft; Gavin Arno; Verena Heinrich; Nikolas Pontikos; Valentina Cipriani; Bernard Puech; Anthony T Moore; Veronica Van Heyningen; Stefan Mundlos; Andrew Webster

Invest. Ophthalmol. Vis. Sci.. 2018; 59(9):6026. doi:

ARVO Annual Meeting Abstract June 2017

North Carolina macular dystrophy is caused by a novel duplication leading to an upregulation of PRDM13 transcription factor

Gael Manes; Willy Joly; Thomas Guignard; Béatrice Bocquet; Patrick Carroll; David Geneviève; Bernard Puech; Christian P Hamel; Isabelle Meunier

Invest. Ophthalmol. Vis. Sci.. 2017; 58(8):4510. doi:

ARVO Annual Meeting Abstract June 2017

North Carolina macular dystrophy: mutations found in 12 additional families

Kent W Small; Fadi Shaya; Svetlana Yelchits; Adam P DeLuca; Richard Alan Lewis; Monique J Leys; Nitin Udar; Benjamin Bakall; Klaus Rohrschneider; Bernard Puech; Virginie Puech; Elise Heon; James C Folk; Gerald A Fishman; Christine Garabetian; Edwin M Stone

Invest. Ophthalmol. Vis. Sci.. 2017; 58(8):2779. doi:

Retina October 2004

Mutations of VMD2 Splicing Regulators Cause Nanophthalmos and Autosomal Dominant Vitreoretinochoroidopathy (ADVIRC)

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Jill Yardley; Bart P. Leroy; Niki Hart-Holden; Bart A. Lafaut; Bart Loeys; Ludwine M. Messiaen; Rahat Perveen; M. Ashwin Reddy; Shomi S. Bhattacharya; Elias Traboulsi; Diana Baralle; Jean-Jacques De Laey; Bernard Puech; Philippe Kestelyn; Anthony T. Moore; Forbes D. C. Manson; Graeme C. M. Black
TAGS: microphthalmos, mutation, rna splicing, family, vitelliform dystrophy
Invest. Ophthalmol. Vis. Sci.. 2004; 45(10):3683-3689. doi: https://doi.org/10.1167/iovs.04-0550

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