Bernard Puech

Bernard Puech

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Bernard Puech

Bernard Puech

Publications by authors named "Bernard Puech"

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22Publications

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

Genet Med 2020 Apr 20. Epub 2020 Apr 20.

Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.

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http://dx.doi.org/10.1038/s41436-020-0787-4DOI Listing
April 2020

Long-term follow-up of two patients with oligocone trichromacy.

Doc Ophthalmol 2015 Oct 3;131(2):149-58. Epub 2015 Jul 3.

Exploration of Visual Function and Neuro-Ophthalmology Department, Lille University Hospital, Rue Emilie Laine, 59037, Lille Cedex, France.

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http://dx.doi.org/10.1007/s10633-015-9508-8DOI Listing
October 2015

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

Am J Ophthalmol 2015 Aug 15;160(2):364-372.e1. Epub 2015 May 15.

Service de Génétique Médicale, Institut de Génétique Médicale d'Alsace, Centre de Référence pour les Affections Rares en Génétique Ophtalmologique (CARGO), Strasbourg, France; Laboratoire de Génétique Médicale, Institut de Génétique Médicale d'Alsace, INSERM U1112, Faculté de Médecine, Université de Strasbourg, Strasbourg, France. Electronic address:

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http://dx.doi.org/10.1016/j.ajo.2015.05.007DOI Listing
August 2015

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

Ophthalmology 2014 Dec 29;121(12):2406-14. Epub 2014 Jul 29.

Centre de Référence Maladies Sensorielles Génétiques, Hôpital Gui de Chauliac, Montpellier, France; Montpellier University, Montpellier, France; Institute for Neurosciences, INSERM, Montpellier, France.

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http://dx.doi.org/10.1016/j.ophtha.2014.06.028DOI Listing
December 2014

Can we still hear the Cro-magnon man?

Acta Med Hist Adriat 2012 ;10(2):331-8

Institut de Paléontologie Humaine, France.

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October 2013

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

Ophthalmology 2011 Mar 29;118(3):564-73. Epub 2010 Oct 29.

Service d'Exploration de la Vision et Neuro-Ophtalmologie, Hôpital Roger-Salengro, CHRU de Lille, Lille Cedex, France.

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http://dx.doi.org/10.1016/j.ophtha.2010.07.024DOI Listing
March 2011

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

Hum Mutat 2010 Mar;31(3):E1241-50

Unité de Recherches Génétique et Epigénétique des Maladies Métaboliques, Neurosensorielles et du Développement, INSERM U781 and Université Paris Descartes, CHU Necker Enfants Malades, Paris, France.

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http://dx.doi.org/10.1002/humu.21203DOI Listing
March 2010

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

Am J Ophthalmol 2009 Apr 1;147(4):609-20. Epub 2009 Feb 1.

Centre Hospitalier Régional et Universitaire, Centre de Référence Maladies Sensorielles Génétiques, Montpellier, France.

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http://dx.doi.org/10.1016/j.ajo.2008.10.022DOI Listing
April 2009