Helene Dollfus
AuthID: R-00F-HMH
1
TITLE: Current management of Inherited Retinal Degenerations (IRD) patients in Europe. Results of a 2 years follow-up multinational survey by EVICR.net and ERN-EYE
AUTHORS: Tavares, Joana; Lorenz, Birgit; van den Born, Ingeborgh; Marques, Joao Pedro; Stingl, Katarina; Pilotto, Elisabetta; Issa, Peter Charbel; Leroux, Dorothee; Dollfus, Helene; Scholl, Hendrik P.;
PUBLISHED: 2022, SOURCE: INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, VOLUME: 63, ISSUE: 7
AUTHORS: Tavares, Joana; Lorenz, Birgit; van den Born, Ingeborgh; Marques, Joao Pedro; Stingl, Katarina; Pilotto, Elisabetta; Issa, Peter Charbel; Leroux, Dorothee; Dollfus, Helene; Scholl, Hendrik P.;
PUBLISHED: 2022, SOURCE: INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, VOLUME: 63, ISSUE: 7
INDEXED IN: 
WOS
WOS2
TITLE: Current management of patients with RPE65 mutation-associated Inherited Retinal Degenerations (RPE65-IRD) in Europe. Results of a 2-year follow-up multinational survey by the European Vision Institute Clinical Research Network (EVICR.net) and the European Reference Network for Rare Eye Diseases (ERN-EYE)
AUTHORS: Lorenz, Birgit; Tavares, Joana; van den Born, Ingeborgh; Marques, Joao Pedro; Stingl, Katarina; Pilotto, Elisabetta; Issa, Peter Charbel; Leroux, Dorothee; Dollfus, Helene; Scholl, Hendrik P.;
PUBLISHED: 2022, SOURCE: INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, VOLUME: 63, ISSUE: 7
AUTHORS: Lorenz, Birgit; Tavares, Joana; van den Born, Ingeborgh; Marques, Joao Pedro; Stingl, Katarina; Pilotto, Elisabetta; Issa, Peter Charbel; Leroux, Dorothee; Dollfus, Helene; Scholl, Hendrik P.;
PUBLISHED: 2022, SOURCE: INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, VOLUME: 63, ISSUE: 7
INDEXED IN: WOS
WOS3
TITLE: Mutations in NMNAT1 cause Leber congenital amaurosis with early-onset severe macular and optic atrophy Full Text
AUTHORS: Isabelle Perrault; Sylvain Hanein; Xavier Zanlonghi; Valerie Serre; Michael Nicouleau; Sabine Defoort Delhemmes; Nathalie Delphin; Lucas Fares Taie; Sylvie Gerber; Olivia Xerri; Catherine Edelson; Alice Goldenberg; Alice Duncombe; Gylene Le Meur; Christian Hamel; Eduardo Silva ; Patrick Nitschke; Patrick Calvas; Arnold Munnich; Olivier Roche; ...More
PUBLISHED: 2012, SOURCE: NATURE GENETICS, VOLUME: 44, ISSUE: 9
AUTHORS: Isabelle Perrault; Sylvain Hanein; Xavier Zanlonghi; Valerie Serre; Michael Nicouleau; Sabine Defoort Delhemmes; Nathalie Delphin; Lucas Fares Taie; Sylvie Gerber; Olivia Xerri; Catherine Edelson; Alice Goldenberg; Alice Duncombe; Gylene Le Meur; Christian Hamel; Eduardo Silva ; Patrick Nitschke; Patrick Calvas; Arnold Munnich; Olivier Roche; ...More
PUBLISHED: 2012, SOURCE: NATURE GENETICS, VOLUME: 44, ISSUE: 9
4
TITLE: Candidate exome capture identifies mutation of SDCCAG8 as the cause of a retinal-renal ciliopathy Full Text
AUTHORS: Edgar A Otto; Toby W Hurd; Rannar Airik; Moumita Chaki; Weibin Zhou; Corinne Stoetzel; Suresh B Patil; Shawn Levy; Amiya K Ghosh; Carlos A Murga Zamalloa; Jeroen van Reeuwijk; Stef J F Letteboer; Liyun Sang; Rachel H Giles; Qin Liu; Karlien L M Coene; Alejandro Estrada Cuzcano; Rob W J Collin; Heather M McLaughlin; Susanne Held; ...More
PUBLISHED: 2010, SOURCE: NATURE GENETICS, VOLUME: 42, ISSUE: 10
AUTHORS: Edgar A Otto; Toby W Hurd; Rannar Airik; Moumita Chaki; Weibin Zhou; Corinne Stoetzel; Suresh B Patil; Shawn Levy; Amiya K Ghosh; Carlos A Murga Zamalloa; Jeroen van Reeuwijk; Stef J F Letteboer; Liyun Sang; Rachel H Giles; Qin Liu; Karlien L M Coene; Alejandro Estrada Cuzcano; Rob W J Collin; Heather M McLaughlin; Susanne Held; ...More
PUBLISHED: 2010, SOURCE: NATURE GENETICS, VOLUME: 42, ISSUE: 10
5
TITLE: Mutation Update for the CSB/ERCC6 and CSA/ERCC8 Genes Involved in Cockayne Syndrome Full Text
AUTHORS: Laugel, V; Dalloz, C; Durand, M; Sauvanaud, F; Kristensen, U; Vincent, MC; Pasquier, L; Odent, S; Cormier Daire, V; Gener, B; Tobias, ES; Tolmie, JL; Martin Coignard, D; Drouin Garraud, V; Heron, D; Journel, H; Raffo, E; Vigneron, J; Lyonnet, S; Murday, V; ...More
PUBLISHED: 2010, SOURCE: HUMAN MUTATION, VOLUME: 31, ISSUE: 2
AUTHORS: Laugel, V; Dalloz, C; Durand, M; Sauvanaud, F; Kristensen, U; Vincent, MC; Pasquier, L; Odent, S; Cormier Daire, V; Gener, B; Tobias, ES; Tolmie, JL; Martin Coignard, D; Drouin Garraud, V; Heron, D; Journel, H; Raffo, E; Vigneron, J; Lyonnet, S; Murday, V; ...More
PUBLISHED: 2010, SOURCE: HUMAN MUTATION, VOLUME: 31, ISSUE: 2
6
TITLE: BBS10 encodes a vertebrate-specific chaperonin-like protein and is a major BBS locus Full Text
AUTHORS: Stoetzel, C; Laurier, V; Davis, EE; Muller, J; Rix, S; Badano, JL; Leitch, CC; Salem, N; Chouery, E; Corbani, S; Jalk, N; Vicaire, S; Sarda, P; Hamel, C; Lacombe, D; Holder, M; Odent, S; Holder, S; Brooks, AS; Elcioglu, NH; ...More
PUBLISHED: 2006, SOURCE: NATURE GENETICS, VOLUME: 38, ISSUE: 5
AUTHORS: Stoetzel, C; Laurier, V; Davis, EE; Muller, J; Rix, S; Badano, JL; Leitch, CC; Salem, N; Chouery, E; Corbani, S; Jalk, N; Vicaire, S; Sarda, P; Hamel, C; Lacombe, D; Holder, M; Odent, S; Holder, S; Brooks, AS; Elcioglu, NH; ...More
PUBLISHED: 2006, SOURCE: NATURE GENETICS, VOLUME: 38, ISSUE: 5
7
TITLE: Leber congenital amaurosis: Comprehensive survey of the genetic heterogeneity, refinement of the clinical definition, and genotype-phenotype correlations as a strategy for molecular diagnosis Full Text
AUTHORS: Hanein, S; Perrault, I; Gerber, S; Tanguy, G; Barbet, F; Ducroq, D; Calvas, P; Dollfus, H; Hamel, C; Lopponen, T; Munier, F; Santos, L; Shalev, S; Zafeiriou, D; Dufier, JL; Munnich, A; Rozet, JM; Kaplan, J;
PUBLISHED: 2004, SOURCE: HUMAN MUTATION, VOLUME: 23, ISSUE: 4
AUTHORS: Hanein, S; Perrault, I; Gerber, S; Tanguy, G; Barbet, F; Ducroq, D; Calvas, P; Dollfus, H; Hamel, C; Lopponen, T; Munier, F; Santos, L; Shalev, S; Zafeiriou, D; Dufier, JL; Munnich, A; Rozet, JM; Kaplan, J;
PUBLISHED: 2004, SOURCE: HUMAN MUTATION, VOLUME: 23, ISSUE: 4
