Publications by authors named "Lam Son Nguyen"

15Publications

Loss of the neurodevelopmental disease-associated gene miR-146a impairs neural progenitor differentiation and causes learning and memory deficits.

Authors:
Julien Fregeac Stéphanie Moriceau Antoine Poli Lam Son Nguyen Franck Oury Laurence Colleaux

Mol Autism 2020 03 30;11(1):22. Epub 2020 Mar 30.

Developmental Brain Disorder Laboratory, INSERM UMR 1163, Imagine Institute, Paris, France.

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March 2020

High N-glycan multiplicity is critical for neuronal adhesion and sensitizes the developing cerebellum to N-glycosylation defect.

Authors:
Daniel Medina-Cano Ekin Ucuncu Lam Son Nguyen Michael Nicouleau Joanna Lipecka Jean-Charles Bizot Christian Thiel François Foulquier Nathalie Lefort Catherine Faivre-Sarrailh Laurence Colleaux Ida Chiara Guerrera Vincent Cantagrel

Elife 2018 10 12;7. Epub 2018 Oct 12.

Paris Descartes-Sorbonne Paris Cité University, Paris, France.

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October 2018

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

Authors:
Huy Hoang Nguyen Van Anh Pham Giulia Barcia Valérie Malan Kiem Lien Thi Nguyen Diem Ngoc Ngo Thu Hien Nguyen Pierre Landrieu Laurence Colleaux Van Hai Nong Lam Son Nguyen

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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September 2018

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

Authors:
Lam Son Nguyen Julien Fregeac Christine Bole-Feysot Nicolas Cagnard Anand Iyer Jasper Anink Eleonora Aronica Olivier Alibeu Patrick Nitschke Laurence Colleaux

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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October 2018

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

Authors:
Matthieu Egloff Lam-Son Nguyen Karine Siquier-Pernet Valérie Cormier-Daire Geneviève Baujat Tania Attié-Bitach Christine Bole-Feysot Patrick Nitschke Michel Vekemans Laurence Colleaux Valérie Malan

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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June 2018

The emerging roles of MicroRNAs in autism spectrum disorders.

Authors:
Julien Fregeac Laurence Colleaux Lam Son Nguyen

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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December 2016

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

Authors:
Lam Son Nguyen Marylin Lepleux Mélanie Makhlouf Christelle Martin Julien Fregeac Karine Siquier-Pernet Anne Philippe François Feron Bruno Gepner Claire Rougeulle Yann Humeau Laurence Colleaux

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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April 2016

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

Authors:
Lam Son Nguyen Taiane Schneider Marlène Rio Sébastien Moutton Karine Siquier-Pernet Florine Verny Nathalie Boddaert Isabelle Desguerre Arnold Munich José Luis Rosa Valérie Cormier-Daire Laurence Colleaux

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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March 2016

HCFC1 loss-of-function mutations disrupt neuronal and neural progenitor cells of the developing brain.

Authors:
Lachlan A Jolly Lam Son Nguyen Deepti Domingo Ying Sun Simon Barry Miroslava Hancarova Pavlina Plevova Marketa Vlckova Marketa Havlovicova Vera M Kalscheuer Claudio Graziano Tommaso Pippucci Elena Bonora Zdenek Sedlacek Jozef Gecz

Hum Mol Genet 2015 Jun 3;24(12):3335-47. Epub 2015 Mar 3.

School of Paediatrics and Reproductive Health, Robinson Research Institute and School of Molecular and Biomedical Sciences, University of Adelaide, Adelaide 5000, Australia,

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June 2015

Mutations in USP9X are associated with X-linked intellectual disability and disrupt neuronal cell migration and growth.

Authors:
Claire C Homan Raman Kumar Lam Son Nguyen Eric Haan F Lucy Raymond Fatima Abidi Martine Raynaud Charles E Schwartz Stephen A Wood Jozef Gecz Lachlan A Jolly

Am J Hum Genet 2014 Mar;94(3):470-8

School of Paediatrics and Reproductive Health, University of Adelaide, Adelaide, SA 5005, Australia; Robinson Institute, University of Adelaide, Adelaide, SA 5005, Australia. Electronic address:

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March 2014

Nonsense-mediated mRNA decay: inter-individual variability and human disease.

Authors:
Lam Son Nguyen Miles F Wilkinson Jozef Gecz

Neurosci Biobehav Rev 2014 Oct 14;46 Pt 2:175-86. Epub 2013 Nov 14.

School of Paediatrics and Reproductive Health, The University of Adelaide, Adelaide, SA 5006, Australia; Department of Genetics and Molecular Pathology, SA Pathology, Adelaide, SA 5006, Australia. Electronic address:

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October 2014

Rare copy number variation in cerebral palsy.

Authors:
Gai McMichael Santhosh Girirajan Andres Moreno-De-Luca Jozef Gecz Chloe Shard Lam Son Nguyen Jillian Nicholl Catherine Gibson Eric Haan Evan Eichler Christa Lese Martin Alastair MacLennan

Eur J Hum Genet 2014 Jan 22;22(1):40-5. Epub 2013 May 22.

Robinson Institute, The University of Adelaide, Adelaide, South Australia, Australia.

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January 2014

ZC4H2 mutations are associated with arthrogryposis multiplex congenita and intellectual disability through impairment of central and peripheral synaptic plasticity.

Authors:
Hiromi Hirata Indrajit Nanda Anne van Riesen Gai McMichael Hao Hu Melanie Hambrock Marie-Amélie Papon Ute Fischer Sylviane Marouillat Can Ding Servane Alirol Melanie Bienek Sabine Preisler-Adams Astrid Grimme Dominik Seelow Richard Webster Eric Haan Alastair MacLennan Werner Stenzel Tzu Ying Yap Alison Gardner Lam Son Nguyen Marie Shaw Nicolas Lebrun Stefan A Haas Wolfram Kress Thomas Haaf Elke Schellenberger Jamel Chelly Géraldine Viot Lisa G Shaffer Jill A Rosenfeld Nancy Kramer Rena Falk Dima El-Khechen Luis F Escobar Raoul Hennekam Peter Wieacker Christoph Hübner Hans-Hilger Ropers Jozef Gecz Markus Schuelke Frédéric Laumonnier Vera M Kalscheuer

Am J Hum Genet 2013 May 25;92(5):681-95. Epub 2013 Apr 25.

Center for Frontier Research, National Institute of Genetics, Precursory Research for Embryonic Science and Technology, Japan Science and Technology Agency, Mishima 411-8540, Japan.

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May 2013

Broadening the phenotype associated with mutations in UPF3B: two further cases with renal dysplasia and variable developmental delay.

Authors:
Sally Ann Lynch Lam Son Nguyen Li Yen Ng Mary Waldron Denise McDonald Jozef Gecz

Eur J Med Genet 2012 Aug-Sep;55(8-9):476-9. Epub 2012 Apr 25.

National Centre for Medical Genetics, Our Lady's Children's Hospital, Crumlin, Dublin 12, Ireland.

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November 2012

A UPF3-mediated regulatory switch that maintains RNA surveillance.

Authors:
Wai-Kin Chan Angela D Bhalla Hervé Le Hir Lam Son Nguyen Lulu Huang Jozef Gécz Miles F Wilkinson

Nat Struct Mol Biol 2009 Jul 7;16(7):747-53. Epub 2009 Jun 7.

Department of Biochemistry and Molecular Biology, The University of Texas M.D. Anderson Cancer Center, Houston, Texas, USA.

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July 2009