Publications by authors named "Sylvain Hanein"

48Publications

Improving the diagnostic efficiency of primary immunodeficiencies with targeted next-generation sequencing.

J Allergy Clin Immunol 2020 Jun 10. Epub 2020 Jun 10.

University of Paris, Institut National de la Santé et de la Recherche Médicale (INSERM) Unité Mixte de Recherche (UMR) 1163, Imagine Institute, Paris, France; Study Center for Primary Immunodeficiencies, Necker Hospital for Sick Children-Assistance Publique-Hôpitaux de Paris (AP-HP), Paris, France; Laboratory of Lymphocyte Activation and Susceptibility to EBV infection, INSERM-UMR 1163, Paris, France; Pediatric Immuno-Hematology and Rheumatology Unit, Necker Hospital for Sick Children, AP-HP, Paris, France; French National Reference Center for Primary Immune Deficiencies, Le Centre de Référence Déficits Immunitaires Héréditaires, Necker Hospital for Sick Children, AP-HP, Paris, France.

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http://dx.doi.org/10.1016/j.jaci.2020.05.046DOI Listing
June 2020

Low Prevalence of GSC Gene Mutations in a Large Cohort of Predominantly Caucasian Patients with Hidradenitis Suppurativa.

J Invest Dermatol 2020 Mar 3. Epub 2020 Mar 3.

Laboratory of Genetic Skin Diseases, INSERM UMR1163 Imagine Institute, Paris, France; Paris University, Paris, France; European Hidradenitis Suppurativa Foundation e.V., Dessau, Germany; Department of Genetics, Necker-Enfants Malades Hospital, AP-HP, Paris, France. Electronic address:

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http://dx.doi.org/10.1016/j.jid.2019.10.025DOI Listing
March 2020

[Twenty years of on-site clinical genetics consultations for people with ASD].

Med Sci (Paris) 2019 Nov 17;35(11):843-851. Epub 2019 Dec 17.

Fédération de Génétique Médicale et Institute Imagine, UMR Inserm 1163, Université Paris-Descartes, Hôpital Necker Enfants-Malades et Fondation Elan Retrouvé, 149 rue de Sèvres, 75015 Paris, France.

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http://dx.doi.org/10.1051/medsci/2019170DOI Listing
November 2019

Diagnostic Yield of Next-generation Sequencing in Very Early-onset Inflammatory Bowel Diseases: A Multicentre Study.

J Crohns Colitis 2018 Aug;12(9):1104-1112

INSERM, UMR1163, Laboratory of Intestinal Immunity, and Imagine Institute, Paris, France.

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

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

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

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

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

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

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