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ARVO Annual Meeting Abstract June 2023

MYH10 heterozygous variants cause a dominant phenotype associating coloboma and ptosis reminiscent of the Baraitser-Winter syndrome spectrum

Helene Dollfus; Séverine Bär; Ariane Kröll-Hermi; Anita Korpioja; Clarisse Delvallée; Samira Secula; Véronique Geoffroy; Elise Schaefer; Christelle Etard; Corinne Stoetzel; Uwe Strähle; Xavier Zanlonghi; Jean Muller; Elisa Rahikkala; Sylvie Friant; Sophie Scheidecker

Invest. Ophthalmol. Vis. Sci.. 2023; 64(8):4531.

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.

ARVO Annual Meeting Abstract April 2010

Confirmation of ADAMTSL4 Mutations for Autosomal Recessive Isolated Bilateral Ectopia Lentis

H. Dollfus; V. Bennouna Greene; V. Marion; V. Pelletier; C. Stoetzel

Invest. Ophthalmol. Vis. Sci.. 2010; 51(13):3079.

ARVO Annual Meeting Abstract April 2009

Variable Ocular Phenotype and Confirmation of Tfap2a Gene Involvement in Branchio-Oculo-Facial Syndrome (BOFS)

H. Dollfus; V. Pelletier; J.-M. Danse; B. Leheup; J. Vigneron; S. Hellé; C. Stoetzel

Invest. Ophthalmol. Vis. Sci.. 2009; 50(13):4099.

ARVO Annual Meeting Abstract May 2008

Mutational Load in a Series of 140 Bardet Biedl Syndrome Families Mutated in Known BBS Genes (BBS1-BBS12)

H. Dollfus; C. Stoetzel; S. Hellé; J.-M. Danse; C. Dalloz; V. Marion; M.-C. Vincent; M. Cossée; J.-L. Mandel

Invest. Ophthalmol. Vis. Sci.. 2008; 49(13):453.

ARVO Annual Meeting Abstract May 2007

Bardet-Biedl Syndrome: Identification of Two New Genes (Bbs10 and Bbs12) Defines a New Vertebrate Specific Chaperonine-Like Family

H. Dollfus; C. Stoetzel; J. Muller; E. Davies; D. Bonneau; A. Mégarbané; P. Beales; O. Poch; N. Katsanis; J.-L. Mandel

Invest. Ophthalmol. Vis. Sci.. 2007; 48(13):6003.

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