Publications by authors named "Pascale Saugier-Veber"

67Publications

Evaluation of DNA Methylation Episignatures for Diagnosis and Phenotype Correlations in 42 Mendelian Neurodevelopmental Disorders.

Am J Hum Genet 2020 03 27;106(3):356-370. Epub 2020 Feb 27.

Molecular Genetics Laboratory, Molecular Diagnostics Division, London Health Sciences Centre, London, ON N6A5W9, Canada; Department of Pathology and Laboratory Medicine, Western University, London, ON N6A3K7, Canada. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2020.01.019DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7058829PMC
March 2020

Pontocerebellar hypoplasia with rhombencephalosynapsis and microlissencephaly expands the spectrum of PCH type 1B.

Eur J Med Genet 2020 Apr 23;63(4):103814. Epub 2019 Nov 23.

Normandie Univ, UNIROUEN, INSERM U1245 and Rouen University Hospital, Department of Pathology, F76000, Normandy Center for Genomic and Personalized Medicine, Rouen, France. Electronic address:

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http://dx.doi.org/10.1016/j.ejmg.2019.103814DOI Listing
April 2020

Confirmation and further delineation of the SMG9-deficiency syndrome, a rare and severe developmental disorder.

Am J Med Genet A 2019 11 7;179(11):2257-2262. Epub 2019 Aug 7.

Department of Genetics and Reference Center for Developmental Disorders, Normandy Center for Genomic and Personalized Medicine, Normandie Univ, UNIROUEN, Inserm U1245 and Rouen University Hospital, Rouen, France.

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http://dx.doi.org/10.1002/ajmg.a.61317DOI Listing
November 2019

Neurodevelopmental outcome in prenatally diagnosed isolated agenesis of the corpus callosum.

Early Hum Dev 2018 01 5;116:9-16. Epub 2017 Nov 5.

Department of Neonatal Pediatrics and Intensive Care -Neuropediatrics, Rouen University Hospital, Rouen, France; Normandy University, Neovasc team UNIROUEN, U1245, INSERM, Institute for Research and Innovation in Biomedicine (IRIB), Rouen, France.

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https://linkinghub.elsevier.com/retrieve/pii/S03783782173013
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http://dx.doi.org/10.1016/j.earlhumdev.2017.10.004DOI Listing
January 2018

Keratopathy in Autoimmune Polyendocrinopathy Syndrome Type 1.

Cornea 2015 Sep;34(9):1086-91

*APHP, Hôpital Lariboisière, Service d'Ophtalmologie, Paris, France; †Université Paris Diderot, Sorbonne Paris Cité, Paris, France; ‡APHP, Hôpital Cochin, Service d'Ophtalmologie, Paris, France; §Université Paris Descartes, Faculté de Médecine, Paris, France; ¶Institute for Biomedical Research, Faculty of Medecine, University of Rouen, France; ‖Department of Genetics, Rouen University Hospital, Rouen, France; **AP-HP, Hôpital Robert Debré, Service d'Endocrinologie Diabétologie Pédiatrique et Centre de Référence des Maladies Endocriniennes Rares de la Croissance, and Institut National de la Santé et de la Recherche Médicale, Paris, France; and ††APHP, Hôpital Cochin, Service d'Endocrinologie, Paris, France.

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http://dx.doi.org/10.1097/ICO.0000000000000513DOI Listing
September 2015

Clinical assessment of five patients with BRWD3 mutation at Xq21.1 gives further evidence for mild to moderate intellectual disability and macrocephaly.

Eur J Med Genet 2014 Apr 22;57(5):200-6. Epub 2014 Jan 22.

Department of Genetics, Rouen University Hospital, Rouen, France; Inserm U1079, Rouen, France; Normandie University, IRIB, Rouen, France. Electronic address:

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http://dx.doi.org/10.1016/j.ejmg.2013.12.012DOI Listing
April 2014

Presence of autism, hyperserotonemia, and severe expressive language impairment in Williams-Beuren syndrome.

Mol Autism 2013 Aug 23;4(1):29. Epub 2013 Aug 23.

Department of Child and Adolescent Psychiatry, Centre Hospitalier Guillaume Regnier and Medical School of the University of Rennes 1, Rennes 35000, France.

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http://molecularautism.biomedcentral.com/articles/10.1186/20
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http://dx.doi.org/10.1186/2040-2392-4-29DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3765460PMC
August 2013

CCM molecular screening in a diagnosis context: novel unclassified variants leading to abnormal splicing and importance of large deletions.

Neurogenetics 2013 May 18;14(2):133-41. Epub 2013 Apr 18.

AP-HP, GH Saint-Louis-Lariboisière-Fernand Widal, Laboratoire de Génétique Moléculaire, Hôpital Lariboisière, 2 rue Ambroise Paré, 75010 Paris, France.

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http://dx.doi.org/10.1007/s10048-013-0362-0DOI Listing
May 2013

Polyglandular autoimmune syndrome type I.

Presse Med 2012 Dec 23;41(12 P 2):e651-62. Epub 2012 Nov 23.

CHRU de Lille, hôpital Claude-Huriez, clinique endocrinologique Marc-Linquette, 4e Ouest, 59037 Lille cedex, France.

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http://dx.doi.org/10.1016/j.lpm.2012.10.005DOI Listing
December 2012

Pathomechanistic characterization of two exonic L1CAM variants located in trans in an obligate carrier of X-linked hydrocephalus.

Neurogenetics 2012 Feb 6;13(1):49-59. Epub 2012 Jan 6.

Institute of Anatomy and Cell Biology, Center for Neurosciences, University of Freiburg, Freiburg, Germany.

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http://dx.doi.org/10.1007/s10048-011-0307-4DOI Listing
February 2012

Evidence for tangential migration disturbances in human lissencephaly resulting from a defect in LIS1, DCX and ARX genes.

Acta Neuropathol 2010 Oct 12;120(4):503-15. Epub 2010 May 12.

Pathology Laboratory, Pole Pathologie-Biologie, Brest University Hospital, Brest, France.

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http://dx.doi.org/10.1007/s00401-010-0692-zDOI Listing
October 2010

Myoclonus dystonia plus syndrome due to a novel 7q21 microdeletion.

Am J Med Genet A 2010 May;152A(5):1244-9

Department of Genetics, University Hospital of Rouen, Rouen, France.

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http://dx.doi.org/10.1002/ajmg.a.33369DOI Listing
May 2010

Human lissencephaly with cerebellar hypoplasia due to mutations in TUBA1A: expansion of the foetal neuropathological phenotype.

Acta Neuropathol 2010 Jun 8;119(6):779-89. Epub 2010 Apr 8.

Faculty of Medicine, INSERM, U614, IFRMP23, Rouen Institute for Medical Research and Innovation, University of Rouen, Rouen, France.

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http://dx.doi.org/10.1007/s00401-010-0684-zDOI Listing
June 2010

Myoclonus in fraternal twin toddlers: a French family with a novel mutation in the SGCE gene.

Eur J Paediatr Neurol 2009 Nov 14;13(6):559-61. Epub 2009 Jan 14.

LENVAL Foundation - Children's Hospital, 57 avenue de la Californie, 06200 Nice, France.

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https://linkinghub.elsevier.com/retrieve/pii/S10903798080021
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http://dx.doi.org/10.1016/j.ejpn.2008.11.009DOI Listing
November 2009

Large CACNA1A deletion in a family with episodic ataxia type 2.

Arch Neurol 2008 Jun;65(6):817-20

Laboratoire de Génétique, Groupe Hospitalier Lariboisière-Fernand Widal, Groupement Hospitalier-Universitaire Nord, Assistance Publique-Hôpitaux de Paris, 2 Rue Ambroise Paré, 75010 Paris, France.

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http://dx.doi.org/10.1001/archneur.65.6.817DOI Listing
June 2008

Refined characterization of the expression and stability of the SMN gene products.

Am J Pathol 2007 Oct 23;171(4):1269-80. Epub 2007 Aug 23.

Molecular Neurogenetics Laboratory, INSERM U798, Evry and Paris 11 Universities, Evry, France.

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http://dx.doi.org/10.2353/ajpath.2007.070399DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1988876PMC
October 2007

A sensitive assay for measuring SMN mRNA levels in peripheral blood and in muscle samples of patients affected with spinal muscular atrophy.

Eur J Hum Genet 2007 Oct 4;15(10):1054-62. Epub 2007 Jul 4.

Department of Genetics, Rouen University Hospital and INSERM U614, Institute for Biomedical Research, University of Rouen, Rouen, France.

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http://dx.doi.org/10.1038/sj.ejhg.5201885DOI Listing
October 2007

Factor V Cambridge mutation and activated protein C resistance assays.

Thromb Haemost 2006 Mar;95(3):581-3

Rouen University Hôpital, Faculty of Medicine, Rouen, France.

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http://dx.doi.org/10.1160/TH05-11-0740DOI Listing
March 2006

Molecular evaluation of foetuses with holoprosencephaly shows high incidence of microdeletions in the HPE genes.

Hum Genet 2006 Mar 2;119(1-2):1-8. Epub 2005 Dec 2.

Groupe Génétique Humaine, IFR140 GFAS, CNRS UMR 6061, Université de Rennes1, 2 avenue du Pr Léon Bernard, CS 34317, 35043 Rennes Cedex, France.

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http://dx.doi.org/10.1007/s00439-005-0097-6DOI Listing
March 2006