B. Puech

发表

[Stargardt's disease and fundus flavimaculatus].

P. Francois, P. Turut, B. Puech, 1975, Archives d'ophtalmologie et revue generale d'ophtalmologie.

High prevalence of PRPH2 in autosomal dominant retinitis pigmentosa in france and characterization of biochemical and clinical features.

J. Sahel, C. Béroud, M. Picot, 2015, American journal of ophthalmology.

Identification of novel VMD2 gene mutations in patients with best vitelliform macular dystrophy

D. Schorderet, F. Munier, J. Dufier, 2001, Human mutation.

Spectral-Domain Optical Coherence Tomography in Hereditary Retinal Dystrophies

M. Mauget-Faÿsse, C. Hamel, S. Defoort-Dhellemmes, 2014 .

North Carolina Macular Dystrophy Is Caused by Dysregulation of the Retinal Transcription Factor PRDM13.

Adam P. DeLuca, S Scott Whitmore, Adam P DeLuca, 2016, Ophthalmology.

Genome-wide linkage and haplotype sharing analysis implicates the MCDR3 locus as a candidate region for a developmental macular disorder in association with digit abnormalities

D. Hunt, V. Cipriani, Nikolas Pontikos, 2017, Ophthalmic genetics.

Natural history of Alström syndrome in early childhood: onset with dilated cardiomyopathy.

R. Weksberg, J. Smallhorn, C. Shuman, 1996, The Journal of pediatrics.

Extensive macular atrophy with pseudodrusen-like appearance: a new clinical entity.

C. Hamel, X. Zanlonghi, I. Meunier, 2009, American journal of ophthalmology.

Dietary, environmental, and genetic risk factors of Extensive Macular Atrophy with Pseudodrusen, a severe bilateral macular atrophy of middle-aged patients

J. Sahel, P. Gastaud, C. Creuzot-Garcher, 2018, Scientific Reports.

Frequency and clinical pattern of vitelliform macular dystrophy caused by mutations of interphotoreceptor matrix IMPG1 and IMPG2 genes.

I. Audo, C. Hamel, S. Defoort-Dhellemmes, 2014, Ophthalmology.

Spastic Paraplegia and Retinal Degeneration: Kjellin Syndrome

G. Stevanin, J. J. Laey, B. Puech, 2014 .

Kjellin syndrome: long-term neuro-ophthalmologic follow-up and novel mutations in the SPG11 gene.

P. Vermersch, C. Depienne, G. Stevanin, 2011, Ophthalmology.

A new autosomal dominant eye and lung syndrome linked to mutations in TIMP3 gene

J. Sahel, G. Labesse, M. Remy-Jardin, 2016, Scientific Reports.

[Congenital achromatopsia and congestive cardiomyopathy].

F. Guilbert, B. Puech, G. Brévière, 1982, Bulletin des societes d'ophtalmologie de France.

Did Mozart have a chronic extradural haematoma?

P. Pellerin, P. Puech, B. Puech, 1989, Injury.

Enrichment of LOVD‐USHbases with 152 USH2A Genotypes Defines an Extensive Mutational Spectrum and Highlights Missense Hotspots

M. Claustres, D. Bonneau, S. Malcolm, 2014, Human mutation.

Deep-intronic ABCA4 variants explain missing heritability in Stargardt disease and allow correction of splice defects by antisense oligonucleotides

F. Grassmann, H. Stöhr, F. Cremers, 2019, Genetics in Medicine.

Human Mutation

T. Rosenberg, F. Raymond, K. Carss, 2019 .

Mutations of VMD2 splicing regulators cause nanophthalmos and autosomal dominant vitreoretinochoroidopathy (ADVIRC).

D. Baralle, S. Bhattacharya, A. Moore, 2004, Investigative ophthalmology & visual science.

Resolving the dark matter of ABCA4 for 1,054 Stargardt disease probands through integrated genomics and transcriptomics

A. Hoischen, C. Klaver, D. Sharon, 2019, bioRxiv.

Cost‐effective molecular inversion probe‐based ABCA4 sequencing reveals deep‐intronic variants in Stargardt disease

F. Grassmann, H. Stöhr, F. Cremers, 2019, Human mutation.

Predominantly Cone-System Dysfunction as Rare Form of Retinal Degeneration in Patients With Molecularly Confirmed Bardet-Biedl Syndrome.

G. Holder, A. Webster, A. Moore, 2015, American journal of ophthalmology.

Extensive Macular Atrophy with Pseudodrusen-Like Appearance

J. J. Laey, B. Puech, 2014 .

Congenital Hypotrichosis with Juvenile Macular Dystrophy

J. J. Laey, B. Puech, 2014 .

A Molecular Genetic Investigation of Two Families With Macular Dysplasia in Association With Digit Abnormalities

D. Hunt, M. Michaelides, A. Webster, 2008 .

X-linked Juvenile Retinoschisis Author : Doctor

J. J. Laey, B. Puech, 2004 .

[Epidemiology and prevalence of hereditary retinal dystrophies in the Northern France].

P. Francois, B. Puech, J. Hache, 1991, Journal francais d'ophtalmologie.

Genetic analysis of new French X-linked juvenile retinoschisis kindreds using microsatellite markers closely linked to the RS locus: further narrowing of the RS candidate region

A. Hanauer, F. Peugnet, X. Zanlonghi, 1995, Human Genetics.

Systematic screening of BEST1 and PRPH2 in juvenile and adult vitelliform macular dystrophies: a rationale for molecular analysis.

C. Hamel, I. Meunier, C. Dhaenens, 2011, Ophthalmology.

Phenotypic variability in a French family with a novel mutation in the BEST1 gene causing multifocal best vitelliform macular dystrophy

K. Bigot, M. Abitbol, F. Rigaudière, 2011, Molecular vision.

Retinitis Pigmentosa and Allied Disorders

J. J. Laey, B. Puech, 2014 .

Identification of the cranium of W.A. Mozart.

P F Puech, B Puech, G Tichy, 1989, Forensic science international.

Deep-intronic ABCA4 variants explain missing heritability in Stargardt disease and allow correction of splice defects by antisense oligonucleotides

F. Grassmann, H. Stöhr, F. Cremers, 2019, Genetics in Medicine.

Microcephaly and Chorioretinopathy With or Without Mental Retardation and Lymphedema

B. Puech, 2014 .

Bietti Crystalline Corneoretinal Dystrophy

J. J. Laey, B. Puech, J. de Laey, 2014 .

Clinical Characteristics and Risk Factors of Extensive Macular Atrophy with Pseudodrusen: The EMAP Case-Control National Clinical Trial.

J. Sahel, P. Gastaud, C. Creuzot-Garcher, 2016, Ophthalmology.

Dietary, environmental, and genetic risk factors of Extensive Macular Atrophy with Pseudodrusen, a severe bilateral macular atrophy of middle-aged patients

J. Sahel, P. Gastaud, C. Creuzot-Garcher, 2018, Scientific Reports.

Inherited Chorioretinal Dystrophies

G. Holder, J. J. Laey, B. Puech, 2014 .

Duplication events downstream of IRX1 cause North Carolina macular dystrophy at the MCDR3 locus

V. Cipriani, Nikolas Pontikos, G. Arno, 2017, Scientific Reports.

Spinocerebellar Ataxia 7

G. Stevanin, X. Zanlonghi, B. Puech, 2014 .

Craniofacial dysmorphism in Mozart's skull.

P. Puech, B. Puech, P. Dhellemmes, 1989, Journal of forensic sciences.

North Carolina macular dystrophy (MCDR1) locus: a fine resolution genetic map and haplotype analysis.

M. Pericak-Vance, C. Flaxel, D. Saperstein, 1999, Molecular vision.

Autosomal Dominant Stargardt-Like Macular Dystrophy (ELOVL4)

J. J. Laey, B. Puech, 2014 .

North Carolina Macular Dystrophy Is Caused by Dysregulation of the Retinal Transcription Factor PRDM13.

Adam P. DeLuca, T. Scheetz, J. Folk, 2016, Ophthalmology.

Resolving the dark matter of ABCA4 for 1054 Stargardt disease probands through integrated genomics and transcriptomics

A. Hoischen, C. Klaver, D. Sharon, 2020, Genetics in Medicine.

[Fundus flavimaculatus of dominant heredity (apropos of 2 families). Nosological considerations on Stargardt's disease].

P. Francois, P. Turut, B. Puech, 1975, Bulletin des societes d'ophtalmologie de France.

Spectrum of SPATA7 mutations in Leber congenital amaurosis and delineation of the associated phenotype

A. Munnich, D. Zafeiriou, S. Hanein, 2010, Human mutation.

Diagnosis of Leber's hereditary optic neuropathy without neurological abnormalities

P. Roussel, P. Labalette, P. Francois, 1992, The Lancet.