Publications by authors named "Sylvie Gerber"

35Publications

En Face Optical Coherence Tomography Imaging in Enhanced S-Cone Syndrome.

Retina 2020 Aug;40(8):e32-e33

Department of Ophthalmology, Centre Hospitalier Intercommunal de Creteil, Creteil, France.

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http://dx.doi.org/10.1097/IAE.0000000000002857DOI Listing
August 2020

FDXR Mutations Cause Sensorial Neuropathies and Expand the Spectrum of Mitochondrial Fe-S-Synthesis Diseases.

Am J Hum Genet 2017 Oct 28;101(4):630-637. Epub 2017 Sep 28.

UMR 1163, Université Paris Descartes, Sorbonne Paris Cité, Institut IMAGINE, 24 Boulevard du Montparnasse, 75015 Paris, France; Centre de Référence des Surdités Génétiques, Service de Génétique, Hôpital Necker-Enfants Malades, Assistance Publique-Hôpitaux de Paris, 75015 Paris, France; Service de Génétique, Hôpital Necker-Enfants Malades, Assistance Publique-Hôpitaux de Paris, 75015 Paris, France. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2017.09.007DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5630197PMC
October 2017

RETINOCHOROIDAL ANASTOMOSIS ASSOCIATED WITH ENHANCED S-CONE SYNDROME.

Retin Cases Brief Rep 2019 ;13(4):295-299

Department of Ophthalmology, Hopital Intercommunal de Creteil, University Paris Est, Creteil, France.

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http://dx.doi.org/10.1097/ICB.0000000000000594DOI Listing
March 2020

Compound heterozygosity for severe and hypomorphic mutations cause non-syndromic LHON-like optic neuropathy.

J Med Genet 2017 05 28;54(5):346-356. Epub 2016 Dec 28.

Laboratory of Genetics in Ophthalmology (LGO), INSERM UMR1163, Institute of Genetic Diseases, Imagine, Paris Descartes University, Paris, France.

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http://dx.doi.org/10.1136/jmedgenet-2016-104212DOI Listing
May 2017

Incomplete penetrance of biallelic ALDH1A3 mutations.

Eur J Med Genet 2016 Apr 10;59(4):215-8. Epub 2016 Feb 10.

Genetics Department, Purpan University Hospital, France; UDEAR, UMR 1056 Inserm - Université de Toulouse, FRE 3742 CNRS, Toulouse, France. Electronic address:

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http://dx.doi.org/10.1016/j.ejmg.2016.02.004DOI Listing
April 2016

TMEM126A is a mitochondrial located mRNA (MLR) protein of the mitochondrial inner membrane.

Biochim Biophys Acta 2013 Jun 13;1830(6):3719-33. Epub 2013 Mar 13.

Départment de Génétique, Fondation Imagine, Université Paris Descartes-Sorbonne Paris Cité, Paris, France.

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http://dx.doi.org/10.1016/j.bbagen.2013.02.025DOI Listing
June 2013

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

Mutations in LCA5 are an uncommon cause of Leber congenital amaurosis (LCA) type II.

Hum Mutat 2007 Dec;28(12):1245

INSERM U781 et Service de Génétique, Hôpital des Enfants Malades, 149 rue de Sèvres, 75743 Paris Cedex 15, France.

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http://dx.doi.org/10.1002/humu.9513DOI Listing
December 2007

Population history and infrequent mutations: how old is a rare mutation? GUCY2D as a worked example.

Eur J Hum Genet 2008 Jan 8;16(1):115-23. Epub 2007 Aug 8.

Unité de Recherches sur les Handicaps Génétiques de l'Enfant. Hôpital Necker - Enfants Malades, Paris, France.

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http://dx.doi.org/10.1038/sj.ejhg.5201905DOI Listing
January 2008

Spectrum of NPHP6/CEP290 mutations in Leber congenital amaurosis and delineation of the associated phenotype.

Hum Mutat 2007 Apr;28(4):416

Unité de Recherches en Génétique et Epigénétique des Maladies Métaboliques, Neurosensorielles et du Développement, INSERM U78, Hôpital des Enfants Malades, Paris, France.

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http://dx.doi.org/10.1002/humu.9485DOI Listing
April 2007

Leber congenital amaurosis: survey of the genetic heterogeneity, refinement of the clinical definition and phenotype-genotype correlations as a strategy for molecular diagnosis. Clinical and molecular survey in LCA.

Adv Exp Med Biol 2006 ;572:15-20

Unitè de Recherches sur les Handicaps Génétiques de l'Enfant, Hôpital Necker-Enfants Malades, 149 rue de Sèvres, 75743 Paris, France.

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http://dx.doi.org/10.1007/0-387-32442-9_3DOI Listing
April 2007

A novel mutation in the GUCY2D gene responsible for an early onset severe RP different from the usual GUCY2D-LCA phenotype.

Hum Mutat 2005 Feb;25(2):222

Unité de Recherches sur les Handicaps Génétiques de l'Enfant, Hôpital Necker - Enfants Malades, 149 rue de Sèvres, 75743 Paris Cedex 15, France.

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http://dx.doi.org/10.1002/humu.9304DOI Listing
February 2005

A first locus for isolated autosomal recessive optic atrophy (ROA1) maps to chromosome 8q.

Eur J Hum Genet 2003 Dec;11(12):966-71

Unité de Recherches sur les Handicaps, Génétiques de l'Enfant, Hôpital Necker-Enfants Malades, Paris, France.

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http://dx.doi.org/10.1038/sj.ejhg.5201070DOI Listing
December 2003

Evidence of a founder effect for the RETGC1 (GUCY2D) 2943DelG mutation in Leber congenital amaurosis pedigrees of Finnish origin.

Hum Mutat 2002 Oct;20(4):322-3

Unité de Recherches sur les Handicaps Génétiques de l'Enfant. Hôpital Necker - Enfants Malades, 149 rue de Sèvres, 75743 Paris Cedex 15, France.

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http://doi.wiley.com/10.1002/humu.9067
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http://dx.doi.org/10.1002/humu.9067DOI Listing
October 2002