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Publications Authored by Sylvain Hanein | PubFacts
Sylvain Hanein

Sylvain Hanein

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Diagnostic Yield of Next-Generation Sequencing in Very Early-Onset Inflammatory Bowel Diseases: A Multicenter Study.

J Crohns Colitis 2018 May 18. Epub 2018 May 18.

INSERM, UMR, Laboratory of Intestinal Immunity, and Imagine Institute, Paris, France.

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Source
http://dx.doi.org/10.1093/ecco-jcc/jjy068DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6113703PMC
May 2018

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

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

AON-mediated Exon Skipping Restores Ciliation in Fibroblasts Harboring the Common Leber Congenital Amaurosis CEP290 Mutation.

Mol Ther Nucleic Acids 2012 Jun 26;1:e29. Epub 2012 Jun 26.

1] Genethon, Evry, France [2] CNRS UMR 8151-Inserm U1022, Université Paris Descarte-Sorbonne Paris Cité, Chimie-Paristech, Paris, France.

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http://dx.doi.org/10.1038/mtna.2012.21DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3390222PMC
June 2012

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

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

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

Spastic paraplegia 5: Locus refinement, candidate gene analysis and clinical description.

Am J Med Genet B Neuropsychiatr Genet 2007 Oct;144B(7):854-61

INSERM U679, Pierre and Marie Curie Paris 6 University, Pitié-Salpêtrière Hospital, 47 Boulevard de l'Hôpital, 75651 Paris Cedex 13, France.

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http://dx.doi.org/10.1002/ajmg.b.30518DOI Listing
October 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

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

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

Prenatal human ocular degeneration occurs in Leber's Congenital Amaurosis (LCA1 and 2).

Adv Exp Med Biol 2003 ;533:59-68

Laboratoire de Physiopathologie Cellulaire et Moléculaire de la Rétine, France.

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August 2004

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

Prenatal human ocular degeneration occurs in Leber's congenital amaurosis (LCA2).

J Gene Med 2002 Jul-Aug;4(4):390-6

Laboratoire de Physiopathologie Cellulaire et Moléculaire de la Rétine, INSERM Université Louis Pasteur EMI 9918, Clinique Médicale A, CHUR Strasbourg, BP. 426, 1 Place de l'Hôpital, 67091 Strasbourg Cedex, France.

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http://dx.doi.org/10.1002/jgm.278DOI Listing
January 2003

A novel mutation disrupting the cytoplasmic domain of CRB1 in a large consanguineous family of Palestinian origin affected with Leber congenital amaurosis.

Ophthalmic Genet 2002 Dec;23(4):225-35

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

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December 2002

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
Publisher Site
http://dx.doi.org/10.1002/humu.9067DOI Listing
October 2002