Publications by authors named "Julie Gauthier"

70Publications

The diagnosis of a haemophilia A carrier over 2 decades.

Haemophilia 2020 Jun 11. Epub 2020 Jun 11.

Division of Hematology-Oncology, Department of Pediatrics, CHU Sainte-Justine, Université de Montréal, Montreal, QC, Canada.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1111/hae.14073DOI Listing
June 2020

Correction of Tetralogy of Fallot Associated With Anomalous Coronary Artery Without Extracardiac Conduit.

World J Pediatr Congenit Heart Surg 2020 05;11(3):343-345

Service de Chirurgie Cardiaque Congénitale, Hôpital Louis-Pradel, Hospices Civils de Lyon, Bron, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1177/2150135120903281DOI Listing
May 2020

Challenges in diagnosis of von Willebrand disease in the presence of combined mutations of different genes.

Haemophilia 2019 03 28;25(2):e113-e117. Epub 2019 Jan 28.

Centre d'hémostase pédiatrique et adulte du CHU Sainte-Justine, Montreal University, Montréal, Quebec, Canada.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1111/hae.13686DOI Listing
March 2019

Correction: IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients.

Genet Med 2019 Aug;21(8):1897-1898

INSERM, U 1127, CNRS UMR 7225, Sorbonne Universites, UPMC Univ Paris 06 UMR S 1127, Institut du Cerveau et de la Moelle epiniere, ICM, Paris, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/s41436-018-0327-7DOI Listing
August 2019

IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients.

Genet Med 2019 04 12;21(4):837-849. Epub 2018 Sep 12.

INSERM, U 1127, CNRS UMR 7225, Sorbonne Universites, UPMC Univ Paris 06 UMR S 1127, Institut du Cerveau et de la Moelle epiniere, ICM, Paris, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/s41436-018-0268-1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6752297PMC
April 2019

Non-invasive prenatal aneuploidy testing: Critical diagnostic performance parameters predict sample z-score values.

Clin Biochem 2018 Sep 27;59:69-77. Epub 2018 Jun 27.

Service of Medical Biochemistry, Department of Medical Biology, CHU de Québec - Université Laval, Quebec, Canada; Department of Molecular Biology, Medical Biochemistry, and Pathology, Faculty of Medicine, Université Laval, Quebec, Canada; Human and Molecular Genetics Research Unit, Research Center, CHU de Québec, Quebec, Canada; PEGASUS, Quebec, Canada.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.clinbiochem.2018.06.015DOI Listing
September 2018

A case of familial transmission of the newly described DNMT3A-Overgrowth Syndrome.

Am J Med Genet A 2017 Jul 27;173(7):1887-1890. Epub 2017 Apr 27.

Département de pédiatrie, Service de génétique médicale, Centre Hospitalier Universitaire Ste-Justine, Université de Montréal, Montréal, Canada.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.38119DOI Listing
July 2017

Identification of cvSI-3 and evidence for the wide distribution and active evolution of the I84 family of protease inhibitors in mollusks.

Fish Shellfish Immunol 2017 Mar 31;62:332-340. Epub 2017 Jan 31.

School of Animal Sciences, Louisiana State University Agricultural Center, Baton Rouge, LA 70803, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.fsi.2017.01.040DOI Listing
March 2017

Meta-analysis of SHANK Mutations in Autism Spectrum Disorders: a gradient of severity in cognitive impairments.

PLoS Genet 2014 Sep 4;10(9):e1004580. Epub 2014 Sep 4.

Institut Pasteur, Human Genetics and Cognitive Functions Unit, Paris, France; CNRS UMR 3571 Genes, Synapses and Cognition, Institut Pasteur, Paris, France; University Paris Diderot, Sorbonne Paris Cité, Human Genetics and Cognitive Functions, Paris, France; FondaMental Foundation, Créteil, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1371/journal.pgen.1004580DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4154644PMC
September 2014

Loss of association of REEP2 with membranes leads to hereditary spastic paraplegia.

Am J Hum Genet 2014 Feb 2;94(2):268-77. Epub 2014 Jan 2.

Université Pierre and Marie Curie - Paris VI, Unité Mixte de Recherche S975, Centre de Recherche de l'Institut du Cerveau et de la Moelle épinière, Groupe Hospitalier Pitié-Salpêtrière, 75013 Paris, France; Institut National de la Santé et de la Recherche Médicale, Unité 975, 75013 Paris, France; Centre National de la Recherche Scientifique, Unité Mixte de Recherche 7225, 75013 Paris, France. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ajhg.2013.12.005DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3928657PMC
February 2014

Quantitative PCR assay to determine prevalence and intensity of MSX (Haplosporidium nelsoni) in North Carolina and Rhode Island oysters Crassostrea virginica.

Dis Aquat Organ 2012 Dec;102(2):107-18

Department of Biology and Marine Biology, Center for Marine Science, University of North Carolina Wilmington, Wilmington, North Carolina 28409, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.3354/dao02540DOI Listing
December 2012

Analysis of the effects of rare variants on splicing identifies alterations in GABAA receptor genes in autism spectrum disorder individuals.

Eur J Hum Genet 2013 Jul 21;21(7):749-56. Epub 2012 Nov 21.

Department of Medicine, Centre of Excellence in Neuroscience of Université de Montréal, CRCHUM Notre-Dame Hospital, Montreal, Quebec, Canada.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/ejhg.2012.243DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3722945PMC
July 2013

De novo mutations in neurological and psychiatric disorders: effects, diagnosis and prevention.

Genome Med 2012 25;4(9):71. Epub 2012 Sep 25.

Center of Excellence in Neuroscience of the Université de Montréal , Quebec, Canada H2L 4MI ; Centre de Recherche du Centre Hospitalier de l'Université de Montréal, Quebec, Canada H2L 4MI ; Department of Medicine, Université de Montréal, Quebec, Canada H2L 4MI.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1186/gm372DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3580441PMC
June 2014

Identification of a novel metal binding protein, segon, in plasma of the eastern oyster, Crassostrea virginica.

Comp Biochem Physiol B Biochem Mol Biol 2012 Sep 8;163(1):74-85. Epub 2012 May 8.

Department of Veterinary Science, Louisiana State University Agricultural Center, Baton Rouge, LA 70803, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.cbpb.2012.05.002DOI Listing
September 2012

Identification of a novel in-frame de novo mutation in SPTAN1 in intellectual disability and pontocerebellar atrophy.

Eur J Hum Genet 2012 Jul 18;20(7):796-800. Epub 2012 Jan 18.

Centre of Excellence in Neuroscience of Université de Montréal, Centre de Recherche du CHU Sainte-Justine, Montréal, Quebec, Canada.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/ejhg.2011.271DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3376261PMC
July 2012

Rare variants in complex traits: novel identification strategies and the role of de novo mutations.

Hum Hered 2012 11;74(3-4):215-25. Epub 2013 Apr 11.

Center of Excellence in Neuroscience and Department of Medicine, Université de Montréal, Montreal, Quebec, Canada.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1159/000346478DOI Listing
October 2013

Increased exonic de novo mutation rate in individuals with schizophrenia.

Nat Genet 2011 Jul 10;43(9):860-3. Epub 2011 Jul 10.

Centre of Excellence in Neuromics of Université de Montréal, Centre Hospitalier de l'Université de Montréal Research Center, Montréal, Québec, Canada.

View Article

Download full-text PDF

Source
http://www.nature.com/articles/ng.886
Publisher Site
http://dx.doi.org/10.1038/ng.886DOI Listing
July 2011

A strategy to identify de novo mutations in common disorders such as autism and schizophrenia.

J Vis Exp 2011 Jun 15(52). Epub 2011 Jun 15.

Centre of Excellence in Neuromics, CHUM Research Center and the Department of Medicine, Universite de Montreal.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.3791/2534DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3197027PMC
June 2011

Intellectual disability without epilepsy associated with STXBP1 disruption.

Eur J Hum Genet 2011 May 2;19(5):607-9. Epub 2011 Mar 2.

The Centre of Excellence in Neuromics of Université de Montréal and Synapse to Disease (S2D) group, Montréal, Quebec, Canada.

View Article

Download full-text PDF

Source
http://www.nature.com/articles/ejhg2010183
Publisher Site
http://dx.doi.org/10.1038/ejhg.2010.183DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3083607PMC
May 2011

De novo SYNGAP1 mutations in nonsyndromic intellectual disability and autism.

Biol Psychiatry 2011 May 15;69(9):898-901. Epub 2011 Jan 15.

Centre of Excellence in Neuromics of Université de Montréal and Synapse to Disease, S2D, Group, Centre Hospitalier Universitaire Sainte-Justine Research Center, Montréal, Canada.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.biopsych.2010.11.015DOI Listing
May 2011

Resequencing of 29 candidate genes in patients with familial and sporadic amyotrophic lateral sclerosis.

Arch Neurol 2011 May 10;68(5):587-93. Epub 2011 Jan 10.

Centre of Excellence in Neuromics, Centre hospitalier de l'Université de Montréal Research Center, 2099 Alexandre De-Seve St., Montreal, QC, Canada.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1001/archneurol.2010.351DOI Listing
May 2011

Role of GacA in virulence of Vibrio vulnificus.

Microbiology (Reading) 2010 Dec 3;156(Pt 12):3722-3733. Epub 2010 Sep 3.

Food Science and Human Nutrition Department, 212 Aquatic Food Products Laboratory, University of Florida, Gainesville, FL 32611, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1099/mic.0.043422-0DOI Listing
December 2010

De novo truncating mutation in Kinesin 17 associated with schizophrenia.

Biol Psychiatry 2010 Oct 19;68(7):649-56. Epub 2010 Jun 19.

Department of Medicine, Center of Excellence in Neuromics of Université de Montréal, Centre Hospitalier de l'Université de Montreal Research Center, University of Montréal, Montreal, Quebec, Canada.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.biopsych.2010.04.018DOI Listing
October 2010

[De novo mutations in SYNGAP1 associated with non-syndromic mental retardation].

Med Sci (Paris) 2010 Feb;26(2):133-5

Centre d'excellence en neuromique de l'Université de Montréal, Centre de recherche, Montréal, H3T 1C5 Canada.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1051/medsci/2010262133DOI Listing
February 2010

De novo STXBP1 mutations in mental retardation and nonsyndromic epilepsy.

Ann Neurol 2009 Jun;65(6):748-53

Centre of Excellence in Neuromics of Université de Montréal and Synapse to Disease Group, Centre Hospitalier Universitaire Sainte-Justine Research Center, Université de Montréal, Montreal, Quebec, Canada.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ana.21625DOI Listing
June 2009

Identification of drostanolone and 17-methyldrostanolone metabolites produced by cryopreserved human hepatocytes.

Steroids 2009 Mar 13;74(3):306-14. Epub 2008 Nov 13.

INRS-Institut Armand-Frappier, 531, boul. des Prairies, Laval, Québec H7V 1B7, Canada.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.steroids.2008.11.002DOI Listing
March 2009

Mutations in the calcium-related gene IL1RAPL1 are associated with autism.

Hum Mol Genet 2008 Dec 18;17(24):3965-74. Epub 2008 Sep 18.

Centre for Excellence in Neuromics, CHUM Research Center and Department of Medicine, University of Montreal, Montreal, QC, Canada H2L 4M1.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1093/hmg/ddn300DOI Listing
December 2008

Novel de novo SHANK3 mutation in autistic patients.

Am J Med Genet B Neuropsychiatr Genet 2009 Apr;150B(3):421-4

Centre of Excellence in Neuromics of Université de Montréal, CHUM Research Centre, Notre-Dame Hospital, Université de Montréal, Montreal, QC, Canada.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.b.30822DOI Listing
April 2009

Transmission disequilibrium study of an oligodendrocyte and myelin glycoprotein gene allele in 431 families with an autistic proband.

Neurosci Res 2007 Dec 19;59(4):426-30. Epub 2007 Aug 19.

INSERM, U619, Université François-Rabelais de Tours, CHRU de Tours, Faculté de Médecine, 10 Boulevard Tonnellé, BP3223, 37032, Tours Cedex, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.neures.2007.08.009DOI Listing
December 2007

Sleep and COMT polymorphism in ADHD children: preliminary actigraphic data.

J Am Acad Child Adolesc Psychiatry 2006 Aug;45(8):982-989

Drs. Gruber, Grizenko, and Joober, Mr. Schwartz, Ms. Gauthier, and Ms. de Guzman are with the Douglas Hospital Research Centre and McGill University, Montreal; and Dr. Amor is with the Laval University and Hôpital Hôtel Dieu de Lévis, Quebec City, Canada.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1097/01.chi.0000220848.48650.10DOI Listing
August 2006

NLGN3/NLGN4 gene mutations are not responsible for autism in the Quebec population.

Am J Med Genet B Neuropsychiatr Genet 2005 Jan;132B(1):74-5

Research Institute of the McGill University, Health Center, Cedar Ave, Montreal, H3G 1A4, Canada.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.b.30066DOI Listing
January 2005

Flow cytometric analysis of lectin binding to in vitro-cultured Perkinsus marinus surface carbohydrates.

J Parasitol 2004 Jun;90(3):446-54

Department of Biological Sciences, Nicholls State University, Thibodaux, Louisiana 70310, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1645/GE-3269DOI Listing
June 2004

A serosurvey of leptospirosis in Connecticut peridomestic wildlife.

Vector Borne Zoonotic Dis 2003 ;3(4):187-93

Department of Biological Sciences, Quinnipiac University, Hamden, Connecticut 06518-1908, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1089/153036603322662174DOI Listing
May 2004

Superoxide dismutases from the oyster parasite Perkinsus marinus: purification, biochemical characterization, and development of a plate microassay for activity.

Anal Biochem 2003 Jul;318(1):132-41

Center of Marine Biotechnology, University of Maryland Biotechnology Institute, 701 East Pratt Street, Baltimore, MD 21202, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/s0003-2697(03)00192-1DOI Listing
July 2003

Mutation screening of FOXP2 in individuals diagnosed with autistic disorder.

Am J Med Genet A 2003 Apr;118A(2):172-5

Research Institute of the McGill University Health Center, 1650 Cedar Ave, Montreal, Canada.

View Article

Download full-text PDF

Source
http://doi.wiley.com/10.1002/ajmg.a.10105
Publisher Site
http://dx.doi.org/10.1002/ajmg.a.10105DOI Listing
April 2003

cDNA cloning and characterization of two iron superoxide dismutases from the oyster parasite Perkinsus marinus.

Mol Biochem Parasitol 2002 Aug;123(1):73-77

Center of Marine Biotechnology, University of Maryland Biotechnology Institute, 701 East Pratt Street, Baltimore, MD 21202, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/s0166-6851(02)00090-7DOI Listing
August 2002

Nucleotide sequence of the p53 cDNA of beluga whale (Delphinapterus leucas).

Gene 2002 Apr;288(1-2):159-66

Division of Molecular Epidemiology, Kobe University Graduate School of Medicine, 7-5-1, Kusunoki-cho, Chuo-ku, Japan.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/s0378-1119(02)00472-9DOI Listing
April 2002

Effects of plasma from bivalve mollusk species on the in vitro proliferation of the protistan parasite Perkinsus marinus.

J Exp Zool 2002 Feb;292(3):221-30

Center of Marine Biotechnology, University of Maryland Biotechnology Institute, Baltimore, Maryland 21202, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/jez.10013DOI Listing
February 2002