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Bernard Puech
Bernard Puech
CHRU de Lille
Verified email at nordnet.fr - Homepage
Title
Cited by
Cited by
Year
Mutations of VMD2 splicing regulators cause nanophthalmos and autosomal dominant vitreoretinochoroidopathy (ADVIRC)
J Yardley, BP Leroy, N Hart-Holden, BA Lafaut, B Loeys, LM Messiaen, ...
Investigative ophthalmology & visual science 45 (10), 3683-3689, 2004
2342004
L'hérédité en ophtalmologie
P FRANCOIS, B PUECH, L VALLEE, JC HACHE, ...
La Clinique ophtalmologique, 1988
1601988
Deep-intronic ABCA4 variants explain missing heritability in Stargardt disease and allow correction of splice defects by antisense oligonucleotides
R Sangermano, A Garanto, M Khan, EH Runhart, M Bauwens, NM Bax, ...
Genetics in Medicine 21 (8), 1751-1760, 2019
1282019
Natural history of Alström syndrome in early childhood: onset with dilated cardiomyopathy
JL Michaud, E Héon, F Guilbert, J Weill, B Puech, L Benson, JF Smallhorn, ...
The Journal of pediatrics 128 (2), 225-229, 1996
1191996
North Carolina Macular Dystrophy Is Caused by Dysregulation of the Retinal Transcription Factor PRDM13
KWSAPDLSSWTRRSGNUBPCAG Thomas
Ophthalmology 123, 9-18, 2016
982016
Resolving the dark matter of ABCA4 for 1054 Stargardt disease probands through integrated genomics and transcriptomics
M Khan, SS Cornelis, MD Pozo-Valero, L Whelan, EH Runhart, K Mishra, ...
Genetics in Medicine 22 (7), 1235-1246, 2020
792020
Systematic screening of BEST1 and PRPH2 in juvenile and adult vitelliform macular dystrophies: a rationale for molecular analysis
I Meunier, A Sénéchal, CM Dhaenens, C Arndt, B Puech, ...
Ophthalmology 118 (6), 1130-1136, 2011
662011
Enrichment of LOVD‐USHbases with 152 USH2A Genotypes Defines an Extensive Mutational Spectrum and Highlights Missense Hotspots
D Baux, C Blanchet, C Hamel, I Meunier, L Larrieu, V Faugère, C Vaché, ...
Human mutation 35 (10), 1179-1186, 2014
632014
Frequency and clinical pattern of vitelliform macular dystrophy caused by mutations of interphotoreceptor matrix IMPG1 and IMPG2 genes
I Meunier, G Manes, B Bocquet, V Marquette, C Baudoin, B Puech, ...
Ophthalmology 121 (12), 2406-2414, 2014
622014
Epidemiology and prevalence of hereditary retinal dystrophies in the Northern France
B Puech, B Kostrubiec, JC Hache, P Francois
Journal francais d'ophtalmologie 14 (3), 153-164, 1991
621991
North Carolina macular dystrophy phenotype in France maps to the MCDR1 locus
KW Small, B Puech, L Mullen, S Yelchits
Mol Vis 3 (1), 1997
581997
North Carolina macular dystrophy (MCDR1) locus: a fine resolution genetic map and haplotype analysis
KW Small, N Udar, S Yelchits, R Klein, C Garcia, G Gallardo, B Puech, ...
Mol Vis 5, 38, 1999
531999
Identification of novel VMD2 gene mutations in patients with best vitelliform macular dystrophy
D Marchant, K Gogat, S Boutboul, M Pequignot, C Sternberg, P Dureau, ...
Human mutation 17 (3), 235-235, 2001
522001
Spectrum of SPATA7 mutations in Leber congenital amaurosis and delineation of the associated phenotype
I Perrault, S Hanein, X Gerard, N Delphin, L Fares‐Taie, S Gerber, ...
Human mutation 31 (3), E1241-E1250, 2010
382010
Extensive macular atrophy with pseudodrusen-like appearance: a new clinical entity
CP Hamel, I Meunier, C Arndt, SB Salah, S Lopez, C Bazalgette, ...
American journal of ophthalmology 147 (4), 609-620, 2009
382009
Cost‐effective molecular inversion probe‐based ABCA4 sequencing reveals deep‐intronic variants in Stargardt disease
M Khan, SS Cornelis, MI Khan, D Elmelik, E Manders, S Bakker, R Derks, ...
Human Mutation 40 (10), 1749-1759, 2019
362019
High prevalence of PRPH2 in autosomal dominant retinitis pigmentosa in france and characterization of biochemical and clinical features
G Manes, T Guillaumie, WL Vos, A Devos, I Audo, C Zeitz, V Marquette, ...
American journal of ophthalmology 159 (2), 302-314, 2015
342015
Kjellin syndrome: long-term neuro-ophthalmologic follow-up and novel mutations in the SPG11 gene
B Puech, A Lacour, G Stevanin, BG Sautiere, D Devos, C Depienne, ...
Ophthalmology 118 (3), 564-573, 2011
342011
Phenotypic variability in a French family with a novel mutation in the BEST1 gene causing multifocal best vitelliform macular dystrophy
E Lacassagne, A Dhuez, F Rigaudière, A Dansault, C Vêtu, K Bigot, ...
Molecular vision 17, 309, 2011
302011
Identification of the cranium of WA Mozart
PF Puech, B Puech, G Tichy
Forensic science international 41 (1-2), 101-110, 1989
291989
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