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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 2019

CPH1, a new gene for Dominant Optic Atrophy

Cecile Delettre Cribaillet; Camille Mégy; Xavier Zanlonghi; Isabelle Anne Meunier; Marie O Pequignot; Mélanie Quiles; Christian Hamel; Agathe Roubertie; Nicole Weisschuh; Béatrice Bocquet; Guy Lenaers; Gael Manes; Bernd Wissinger; Maria Solà Vilarrubias; Hans Spelbrink; Emmanuelle Sarzi

Invest. Ophthalmol. Vis. Sci.. 2019; 60(9):2811. doi:

ARVO Annual Meeting Abstract July 2018

Mutations in IMPG1 cause autosomal dominant and recessive retinitis pigmentosa

Gael Manes; Xavier ZANLONGHI; Carmen Ayuso; Graeme Black; Guillaume OLIVIER; Béatrice Bocquet; Audrey Sénéchal; Isabelle Meunier; Christian Hamel

Invest. Ophthalmol. Vis. Sci.. 2018; 59(9):2322. doi:

ARVO Annual Meeting Abstract September 2016

Video imaging during visual field perimetry

Jacques R Charlier; Xavier Zanlonghi

Invest. Ophthalmol. Vis. Sci.. 2016; 57(12):3387. doi:

ARVO Annual Meeting Abstract June 2015

Feasibility of computerized confrontation perimetry in young infants

Jacques R Charlier; Xavier Zanlonghi

Invest. Ophthalmol. Vis. Sci.. 2015; 56(7 ):1403. doi:

ARVO Annual Meeting Abstract April 2014

Phenotypic features related to Wolfram syndrome in 17 families

Stephanie Leruez; Verschoore Marion; Johanna Grenier; Xavier Zanlonghi; Christian P Hamel; Christophe Orssaud; Catherine Vignal-Clermont; Vincent Pascal Procaccio Reynier; Patrizia Dominique Bonneau; Dan Milea

Invest. Ophthalmol. Vis. Sci.. 2014; 55(13):6423. doi:

ARVO Annual Meeting Abstract June 2013

Whole exome sequencing identifies mutations in LRIT3 as a cause for autosomal recessive complete congenital stationary night blindness

Christina Zeitz; Samuel Jacobson; Christian Hamel; Kinga Bujakowska; Marion Neuillé; Elise Orhan; Xavier Zanlonghi; Jose Sahel; Shomi Bhattacharya; Isabelle Audo; CSNB study group

Invest. Ophthalmol. Vis. Sci.. 2013; 54(15):3350. doi:

ARVO Annual Meeting Abstract June 2013

Screening of PRPH2/RDS in patients with autosomal dominant retinitis pigmentosa reveals novel disease-causing mutations and 8.6% prevalence in French population

Gael Manes; Claire-Marie Dhaenens; Werner Vos; Isabelle Audo; Xavier Zanlonghi; Sylvie Odent; Helene Dollfus; Beatrice Bocquet; Isabelle Meunier; Christian Hamel

Invest. Ophthalmol. Vis. Sci.. 2013; 54(15):659. doi:

Retina July 2010

Spectrum of Rhodopsin Mutations in French Autosomal Dominant Rod–Cone Dystrophy Patients

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Isabelle Audo; Gaël Manes; Saddek Mohand-Saïd; Anne Friedrich; Marie-Elise Lancelot; Aline Antonio; Veselina Moskova-Doumanova; Oliver Poch; Xavier Zanlonghi; Christian P. Hamel; José-Alain Sahel; Shomi S. Bhattacharya; Christina Zeitz
TAGS: french, mutation, retinitis pigmentosa, rhodopsin, family, phenotype
Invest. Ophthalmol. Vis. Sci.. 2010; 51(7):3687-3700. doi: https://doi.org/10.1167/iovs.09-4766

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