Search | IOVS | ARVO Journals

View

Showing 1 – 6 of 6

SORT: Best Match Most Recent Oldest

VIEW: Basic | Expanded

ARVO Annual Meeting Abstract June 2017

A mutation in VPS15 (PIK3R4) affects IFT20 cilia trafficking and causes a ciliopathy with early onset retinitis pigmentosa

Helene J Dollfus; Corinne Stoetzel; Séverine Bär; Philippe Hammann; Christelle Etard; Sylvie Friant

Invest. Ophthalmol. Vis. Sci.. 2017; 58(8):4514. doi:

ARVO Annual Meeting Abstract September 2016

Survey of ophthalmic and systemic features in patients with PNPLA6 -related disorders

Robert B Hufnagel; Sarah Hull; Jose Luiz Pedroso; Shuan Dai; Andrea Nemeth; Helene Dollfus; Brian Patrick Brooks; Robert Sisk; Michel Michaelides; Anthony T Moore; Zubair Ahmed

Invest. Ophthalmol. Vis. Sci.. 2016; 57(12):6564. doi:

ARVO Annual Meeting Abstract April 2014

Is C8orf37 the eighteenth BBS gene? A case report

Elise Heon; Sophie Qin; Helene Dollfus; Val Sheffield; Edwin M Stone; Gail Billingsley; Ajoy Vincent

Invest. Ophthalmol. Vis. Sci.. 2014; 55(13):3271. 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:

ARVO Annual Meeting Abstract April 2011

Iqcb1 (nphp5) Mutations In Leber Congenital Amaurosis With Very Late Nephronophthisis

Jean-Michel Rozet; Remi Salomon; Nathalie Delphin; Eduardo D. Silva; Helene Dollfus; Christian P. Hamel; Arnold Munnich; Sophie Saunier; Josseline Kaplan; Isabelle Perrault

Invest. Ophthalmol. Vis. Sci.. 2011; 52(14):5368. doi:

ARVO Annual Meeting Abstract April 2011

Bardet Biedl Syndrome Chaperonin-like Proteins Depletion Induces Photoreceptor Cells Death Due To Endoplasmic Reticulum Stress

Helene Dollfus; Anais Mockel; Dominique Schlicht; Nadia Messaddeq; Vincent Marion

Invest. Ophthalmol. Vis. Sci.. 2011; 52(14):5414. doi:

Advertisement