Publications by authors named "Laurence Colleaux"

66Publications

Exome sequencing findings in 27 patients with myoclonic-atonic epilepsy: Is there a major genetic factor?

Clin Genet 2019 09 6;96(3):254-260. Epub 2019 Jun 6.

Reference Centre for Rare Epilepsies, Pediatric Neurology, Necker Enfants-Malades Hospital, Paris, France.

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https://onlinelibrary.wiley.com/doi/abs/10.1111/cge.13581
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http://dx.doi.org/10.1111/cge.13581DOI Listing
September 2019

Distal duplication of chromosome 16q22.1q23.1 in a Vietnamese patient with midface hypoplasia and intellectual disability.

Am J Med Genet A 2018 09 4;176(9):1981-1984. Epub 2018 Sep 4.

Laboratory of Molecular and Pathophysiological Bases of Cognitive Disorders, Imagine Institute, Paris, France.

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http://doi.wiley.com/10.1002/ajmg.a.40375
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http://dx.doi.org/10.1002/ajmg.a.40375DOI Listing
September 2018

Role of in neural stem cell differentiation and neural lineage determination: relevance for neurodevelopmental disorders.

Mol Autism 2018 19;9:38. Epub 2018 Jun 19.

1INSERM UMR 1163, Laboratory of Molecular and pathophysiological bases of cognitive disorders, Imagine Institute, Necker-Enfants Malades Hospital, 24 Boulevard du Montparnasse, 75015 Paris, France.

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http://dx.doi.org/10.1186/s13229-018-0219-3DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6011198PMC
October 2018

Whole-exome sequence analysis highlights the role of unmasked recessive mutations in copy number variants with incomplete penetrance.

Eur J Hum Genet 2018 06 26;26(6):912-918. Epub 2018 Feb 26.

Service d'Histologie-Embryologie-Cytogénétique, Hôpital Necker-Enfants-Malades, Université Paris Descartes, 149, rue de Sèvres, 75015, Paris, France.

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http://dx.doi.org/10.1038/s41431-018-0124-4DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5974246PMC
June 2018

The emerging roles of MicroRNAs in autism spectrum disorders.

Neurosci Biobehav Rev 2016 Dec 25;71:729-738. Epub 2016 Oct 25.

INSERM UMR 1163, Laboratory of Molecular and Pathophysiological Bases of Cognitive Disorders, Imagine Institute, Necker-Enfants Malades Hospital, 24 Boulevard du Montparnasse, 75015 Paris, France; Paris Descartes-Sorbonne Paris Cité University, 12 Rue de l'École de Médecine, 75006 Paris, France. Electronic address:

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http://dx.doi.org/10.1016/j.neubiorev.2016.10.018DOI Listing
December 2016

[Mutations in NONO lead to syndromic intellectual disability and inhibitory synaptic defects].

Med Sci (Paris) 2016 Jun-Jul;32(6-7):571-3. Epub 2016 Jul 12.

Inserm UMR 1163, laboratoire bases moléculaires et pathophysiologiques des désordres cognitifs, université Paris Descartes- Sorbonne Paris Cité, institut Imagine, hôpital Necker-Enfants Malades, 24, boulevard du Montparnasse, 75015 Paris, France.

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http://dx.doi.org/10.1051/medsci/20163206015DOI Listing
July 2017

Profiling olfactory stem cells from living patients identifies miRNAs relevant for autism pathophysiology.

Mol Autism 2016 8;7. Epub 2016 Jan 8.

INSERM UMR 1163, Laboratory of Molecular and pathophysiological bases of cognitive disorders, Paris Descartes - Sorbonne Paris Cité University, Imagine Institute, Necker-Enfants Malades Hospital, 24 boulevard du Montparnasse, 75015 Paris, France.

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http://dx.doi.org/10.1186/s13229-015-0064-6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4705753PMC
April 2016

Refining the phenotype associated with CASC5 mutation.

Neurogenetics 2016 Jan 1;17(1):71-8. Epub 2015 Dec 1.

INSERM UMR 1163, Laboratory of Molecular and Pathophysiological Bases of Cognitive Disorders, Imagine Institute, Necker-Enfants Malades Hospital, Paris Descartes-Sorbonne Paris Cité University, 75015, Paris, France.

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http://dx.doi.org/10.1007/s10048-015-0468-7DOI Listing
January 2016

A nonsense variant in HERC1 is associated with intellectual disability, megalencephaly, thick corpus callosum and cerebellar atrophy.

Eur J Hum Genet 2016 Mar 8;24(3):455-8. Epub 2015 Jul 8.

Laboratory of Molecular and Pathophysiological Bases of Cognitive Disorders, INSERM UMR 1163, Paris Descartes - Sorbonne Paris Cité University, Imagine Institute, Necker-Enfants Malades Hospital, Paris, France.

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http://www.nature.com/articles/ejhg2015140
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http://dx.doi.org/10.1038/ejhg.2015.140DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4755376PMC
March 2016

Contiguous mutation syndrome in the era of high-throughput sequencing.

Mol Genet Genomic Med 2015 May 18;3(3):215-20. Epub 2015 Mar 18.

INSERM UMR 1163, Laboratory of Molecular and Pathophysiological Bases of Cognitive Disorders, Paris Descartes - Sorbonne Paris Cité University, Imagine Institute, Necker-Enfants Malades Hospital 75015, Paris, France.

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http://dx.doi.org/10.1002/mgg3.134DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4444163PMC
May 2015

Human slack potassium channel mutations increase positive cooperativity between individual channels.

Cell Rep 2014 Dec 4;9(5):1661-1672. Epub 2014 Dec 4.

Department of Pharmacology, Yale University, New Haven, CT 06520, USA; Department of Cellular and Molecular Physiology, Yale University, New Haven, CT 06520, USA. Electronic address:

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http://dx.doi.org/10.1016/j.celrep.2014.11.015DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4294418PMC
December 2014

Multiple congenital anomalies-intellectual disability (MCA-ID) and neuroblastoma in a patient harboring a de novo 14q23.1q23.3 deletion.

Am J Med Genet A 2014 May 24;164A(5):1310-7. Epub 2014 Mar 24.

Département de Génétique Histologie-Embryologie-Cytogénétique, Hôpital Necker-Enfants Malades, Paris, France; INSERM U781, Université Sorbonne Paris Cité, Institut IMAGINE, Paris, France.

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http://dx.doi.org/10.1002/ajmg.a.36452DOI Listing
May 2014

Mutations in QARS, encoding glutaminyl-tRNA synthetase, cause progressive microcephaly, cerebral-cerebellar atrophy, and intractable seizures.

Am J Hum Genet 2014 Apr 20;94(4):547-58. Epub 2014 Mar 20.

Department of Pediatric Neurology, Centre de Reference Epilepsies Rares, Hôpital Necker-Enfants Malades, Assistance Publique-Hôpitaux de Paris, 75015 Paris, France; Institut National de la Santé et de la Recherche Médicale U1129, Université Paris Descartes, 75006 Paris, France; Institut National de la Santé et de la Recherche Médicale U1129, NeuroSpin, Commissariat à l'Énergie Atomique et aux Énergies Alternatives, 91191 Gif-sur-Yvette, France. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S00029297140010
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http://dx.doi.org/10.1016/j.ajhg.2014.03.003DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3980424PMC
April 2014

Mutation in TTI2 reveals a role for triple T complex in human brain development.

Hum Mutat 2013 Nov 10;34(11):1472-6. Epub 2013 Sep 10.

INSERM U781, Université Paris Descartes, Sorbonne Paris Cité, Institut IMAGINE, Hôpital Necker-Enfants Malades, Paris, France.

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http://dx.doi.org/10.1002/humu.22399DOI Listing
November 2013

Xq25 duplications encompassing GRIA3 and STAG2 genes in two families convey recognizable X-linked intellectual disability with distinctive facial appearance.

Am J Med Genet A 2013 Jun 1;161A(6):1370-5. Epub 2013 May 1.

Université Paris Descartes, INSERM U 781 & Département de Génétique, Hôpital Necker-Enfants Malades, Paris, France.

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http://dx.doi.org/10.1002/ajmg.a.35307DOI Listing
June 2013

NF-κB signalling requirement for brain myelin formation is shown by genotype/MRI phenotype correlations in patients with Xq28 duplications.

Eur J Hum Genet 2013 Feb 18;21(2):195-9. Epub 2012 Jul 18.

INSERM U781, Département de Génétique et de Radiologie Pédiatrique, Fondation IMAGINE, Université Paris Descartes, Hôpital Necker-Enfants Malades, 149 Rue de Sèvres, Paris, France.

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http://dx.doi.org/10.1038/ejhg.2012.140DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3548256PMC
February 2013

MED23 mutation links intellectual disability to dysregulation of immediate early gene expression.

Science 2011 Aug;333(6046):1161-3

Institut de Génétique et de Biologie Moléculaire et Cellulaire, CNRS/INSERM/Université de Strasbourg, BP 163, 67404 Illkirch Cedex, C. U. Strasbourg, France.

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http://dx.doi.org/10.1126/science.1206638DOI Listing
August 2011

Adaptor protein complex 4 deficiency causes severe autosomal-recessive intellectual disability, progressive spastic paraplegia, shy character, and short stature.

Am J Hum Genet 2011 Jun 27;88(6):788-795. Epub 2011 May 27.

INSERM U781, Fondation IMAGINE, Département de Génétique and Département de Radiologie Pédiatrique, Université Paris Descartes, Hôpital Necker-Enfants Malades, 75015 Paris, France. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2011.04.019DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3113253PMC
June 2011

Familial interstitial Xq27.3q28 duplication encompassing the FMR1 gene but not the MECP2 gene causes a new syndromic mental retardation condition.

Eur J Hum Genet 2010 Mar 21;18(3):285-90. Epub 2009 Oct 21.

Département de Génétique, Université Paris Descartes, INSERM U781, Hôpital Necker-Enfants Malades, Assistance Publique-Hôpitaux de Paris, Paris, France.

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http://dx.doi.org/10.1038/ejhg.2009.159DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2987214PMC
March 2010

Compound heterozygous ASPM mutations associated with microcephaly and simplified cortical gyration in a consanguineous Algerian family.

Eur J Med Genet 2009 Jul-Aug;52(4):180-4. Epub 2009 Mar 28.

Department of Neurology, Etablissement hospitalier spécialisé de Benaknoun, and Department of Biochemistry, Centre Hospitalo-Universitaire Mustapha Bacha, Algiers, Algeria.

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https://linkinghub.elsevier.com/retrieve/pii/S17697212090003
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http://dx.doi.org/10.1016/j.ejmg.2009.03.013DOI Listing
November 2009

Neurobehavioral profile and brain imaging study of the 22q13.3 deletion syndrome in childhood.

Pediatrics 2008 Aug 14;122(2):e376-82. Epub 2008 Jul 14.

National Institute of Health and Medical Research and Department of Genetics, Necker-Enfants Malades Hospital, Assistance Publique-Hôpitaux de Paris, Paris, France.

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http://dx.doi.org/10.1542/peds.2007-2584DOI Listing
August 2008

Oligosaccharyltransferase-subunit mutations in nonsyndromic mental retardation.

Am J Hum Genet 2008 May 1;82(5):1150-7. Epub 2008 May 1.

Laboratoire de Génétique et Epigénétique des Maladies Métaboliques, Neurosensorielles et du Développement (INSERM U781), Université Paris Descartes, Hôpital Necker-Enfants Malades, F-75015 Paris, France.

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http://dx.doi.org/10.1016/j.ajhg.2008.03.021DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2427205PMC
May 2008

Clinical, cellular, and neuropathological consequences of AP1S2 mutations: further delineation of a recognizable X-linked mental retardation syndrome.

Hum Mutat 2008 Jul;29(7):966-74

INSERM U781 and Department of Medical Genetics, Hôpital Necker-Enfants Malades, Université Paris Descartes, Faculté de Médecine, Assistance Publique-Hôpitaux de Paris, Paris, France.

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http://dx.doi.org/10.1002/humu.20531DOI Listing
July 2008

Incidence and clinical features of X-linked Cornelia de Lange syndrome due to SMC1L1 mutations.

Hum Mutat 2007 Feb;28(2):205-6

INSERM U781 and Département de Génétique, Hôpital Necker-Enfants Malades, Paris, France.

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http://dx.doi.org/10.1002/humu.9478DOI Listing
February 2007

Tequila, a neurotrypsin ortholog, regulates long-term memory formation in Drosophila.

Science 2006 Aug;313(5788):851-3

Gènes et Dynamique des Systèmes de Mémoire, UMR CNRS 7637, Ecole Supérieure de Physique et de Chimie Industrielles, 10 Rue Vauquelin 75005 Paris, France.

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http://dx.doi.org/10.1126/science.1127215DOI Listing
August 2006

Molecular karyotyping in human constitutional cytogenetics.

Eur J Med Genet 2005 Jul-Sep;48(3):214-31

Service de cytogénétique, laboratoire de cytogénétique, hôpital Necker-Enfants Malades, 149, rue de Sèvres, 75015 Paris, France.

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http://dx.doi.org/10.1016/j.ejmg.2005.04.013DOI Listing
November 2005

Clinical and molecular overlap in overgrowth syndromes.

Am J Med Genet C Semin Med Genet 2005 Aug;137C(1):4-11

INSERM U393, Département de Génétique Médicale, Hôpital Necker-Enfants Malades, 149 rue de Sèvres, 75743 [corrected] Paris, France.

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http://dx.doi.org/10.1002/ajmg.c.30060DOI Listing
August 2005

Extracellular proteases and their inhibitors in genetic diseases of the central nervous system.

Hum Mol Genet 2003 Oct 12;12 Spec No 2:R195-200. Epub 2003 Aug 12.

Départment de Génétique et Unité de Recherche sur les Handicaps Génetiques de l'Enfant, INSERM U393, Hôpital Necker-Enfants Malades, Cedex 15, France.

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http://dx.doi.org/10.1093/hmg/ddg276DOI Listing
October 2003

Truncating neurotrypsin mutation in autosomal recessive nonsyndromic mental retardation.

Science 2002 Nov;298(5599):1779-81

Unité de Recherches sur les Handicaps Génétiques de l'Enfant, INSERM U-393, et Département de Génétique, Hôpital Necker-Enfants Malades, Paris, France.

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http://dx.doi.org/10.1126/science.1076521DOI Listing
November 2002

Fluorescence genotyping for screening cryptic telomeric rearrangements.

Methods Mol Biol 2002 ;204:181-9

Hôpital Necker-Enfants Malades, Paris, France.

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http://dx.doi.org/10.1385/1-59259-300-3:181DOI Listing
March 2003