Jean-Baptiste Rivière

Jean-Baptiste Rivière

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Jean-Baptiste Rivière

Jean-Baptiste Rivière

Publications by authors named "Jean-Baptiste Rivière"

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Genetic testing for familial hypercholesterolemia: Impact on diagnosis, treatment and cardiovascular risk.

Eur J Prev Cardiol 2019 Aug 12;26(12):1262-1270. Epub 2019 Feb 12.

1 Research Institute of the McGill University Health Centre, Royal Victoria Hospital, Montreal, Canada.

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http://dx.doi.org/10.1177/2047487319829746DOI Listing
August 2019

Genome and RNA sequencing in patients with methylmalonic aciduria of unknown cause.

Genet Med 2019 Aug 29. Epub 2019 Aug 29.

Department of Human Genetics, McGill University, Montreal, QC, Canada.

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http://dx.doi.org/10.1038/s41436-019-0640-9DOI Listing
August 2019

Patterned cutaneous hypopigmentation phenotype characterization: A retrospective study in 106 children.

Pediatr Dermatol 2019 Jul 30. Epub 2019 Jul 30.

Division of Pediatric Dermatology, Department of Pediatrics, Sainte-Justine University Hospital Centre, University of Montreal, Montreal, Quebec, Canada.

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http://dx.doi.org/10.1111/pde.13913DOI Listing
July 2019

Pathogenic variants in AIMP1 cause pontocerebellar hypoplasia.

Neurogenetics 2019 05 28;20(2):103-108. Epub 2019 Mar 28.

Departments of Pediatrics, Neurology & Neurosurgery, MUHC-Research Institute, McGill University, 1001 Blvd Décarie, Montreal, H4A 3J1, Canada.

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http://link.springer.com/10.1007/s10048-019-00572-7
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http://dx.doi.org/10.1007/s10048-019-00572-7DOI Listing
May 2019

LARP7 variants and further delineation of the Alazami syndrome phenotypic spectrum among primordial dwarfisms: 2 sisters.

Eur J Med Genet 2019 Mar 10;62(3):161-166. Epub 2018 Jul 10.

Département de Génétique Médicale, Maladies Rares et Médecine Personnalisée, Centre de Référence Anomalies du développement et Syndromes Malformatifs, Plateforme Recherche de Microremaniements Chromosomiques, CHU de Montpellier, Université de Montpellier, France; Unité Inserm, U1183, Hôpital Saint-Eloi, CHU de Montpellier, Montpellier, France. Electronic address:

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http://dx.doi.org/10.1016/j.ejmg.2018.07.003DOI Listing
March 2019

A Recurrent De Novo PACS2 Heterozygous Missense Variant Causes Neonatal-Onset Developmental Epileptic Encephalopathy, Facial Dysmorphism, and Cerebellar Dysgenesis.

Am J Hum Genet 2018 05 12;102(5):995-1007. Epub 2018 Apr 12.

Centre de Génétique Médicale, Centre de Référence "Déficiences Intellectuelles de causes rares," CHU de Dijon Bourgogne, 21079 Dijon, France; Fédération Hospitalo-Universitaire Médecine Translationnelle et Anomalies du Développement (TRANSLAD), CHU de Dijon Bourgogne, 21079 Dijon, France; Inserm UMR1231 GAD, Génétique des Anomalies du Développement, Université de Bourgogne, 21079 Dijon, France. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2018.03.005DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5986694PMC
May 2018

B3GAT3-related disorder with craniosynostosis and bone fragility due to a unique mutation.

Genet Med 2018 02 3;20(2):269-274. Epub 2017 Aug 3.

Département de Génétique Médicale, Maladies Rares et Médecine Personnalisée, Centre de Référence Anomalies du Développement et Syndromes Malformatifs, Plateforme Recherche de Microremaniements Chromosomiques, Hôpital Arnaud de Villeneuve, CHU de Montpellier, Faculté de Médecine Montpellier-Nîmes, Université de Montpellier, Montpellier, France.

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http://dx.doi.org/10.1038/gim.2017.109DOI Listing
February 2018

Reducing diagnostic turnaround times of exome sequencing for families requiring timely diagnoses.

Eur J Med Genet 2017 Nov 12;60(11):595-604. Epub 2017 Aug 12.

Equipe Génétique des Anomalies du Développement, INSERM UMR1231, Université de Bourgogne-Franche Comté, Dijon, France; Centre de Génétique et Centre de Référence Anomalies du Développement et Syndromes Malformatifs, FHU TRANSLAD, Hôpital d'Enfants, CHU Dijon et Université de Bourgogne, Dijon, France. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S17697212173019
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http://dx.doi.org/10.1016/j.ejmg.2017.08.011DOI Listing
November 2017

Exonic Mosaic Mutations Contribute Risk for Autism Spectrum Disorder.

Am J Hum Genet 2017 Sep 31;101(3):369-390. Epub 2017 Aug 31.

Department of Molecular & Medical Genetics, Oregon Health & Science University, Portland, OR 97239, USA. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S00029297173032
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http://dx.doi.org/10.1016/j.ajhg.2017.07.016DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5590950PMC
September 2017

Mosaicism for a KITLG Mutation in Linear and Whorled Nevoid Hypermelanosis.

J Invest Dermatol 2017 07 28;137(7):1575-1578. Epub 2017 Feb 28.

Université Bourgogne Franche-Comté, EA 4271 Génétique des Anomalies du Développement, Dijon, France; Service de Pathologie, Plateau Technique de Biologie, CHU Dijon Bourgogne, France; Service de Dermatologie, CHU Dijon Bourgogne, Dijon, France; Centre de référence Anomalies du Développement et Syndromes Malformatifs, CHU Dijon Bourgogne, France. Electronic address:

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http://dx.doi.org/10.1016/j.jid.2017.01.035DOI Listing
July 2017

Mutations in the ERCC2 (XPD) gene associated with severe fetal ichthyosis and dysmorphic features.

Prenat Diagn 2016 Dec 2;36(13):1276-1279. Epub 2016 Dec 2.

Service de Génétique Médicale, Institut de Génétique Médicale d'Alsace (IGMA), Centre de Référence Maladies Rares Anomalies du Développement et Syndromes Malformatifs de l'Est, Hôpitaux Universitaires de Strasbourg, Hôpital de Hautepierre, Strasbourg, France.

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http://dx.doi.org/10.1002/pd.4965DOI Listing
December 2016

Autosomal-Recessive Mutations in AP3B2, Adaptor-Related Protein Complex 3 Beta 2 Subunit, Cause an Early-Onset Epileptic Encephalopathy with Optic Atrophy.

Am J Hum Genet 2016 Dec 23;99(6):1368-1376. Epub 2016 Nov 23.

Equipe d'Accueil 4271, Génétique des Anomalies du Développement, Université de Bourgogne, 21079 Dijon, France; INSERM 1141, Service de Neurologie Pédiatrique, Hôpital Robert Debré, 75019 Paris, France; Centre de Génétique et Centre de Référence Anomalies du Développement et Syndromes Malformatifs de l'Interrégion Est, Centre Hospitalier Universitaire Dijon, 21079 Dijon, France. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2016.10.009DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5142104PMC
December 2016

Postzygotic BRAF p.Lys601Asn Mutation in Phacomatosis Pigmentokeratotica with Woolly Hair Nevus and Focal Cortical Dysplasia.

J Invest Dermatol 2016 05 29;136(5):1060-1062. Epub 2016 Jan 29.

Equipe d'Accueil 4271, Génétique des Anomalies du Développement, Université de Bourgogne Franche-Comté, Dijon, France; Fédération Hospitalo-Universitaire Médecine Translationnelle et Anomalies du Développement (TRANSLAD), Centre Hospitalo-Universitaire Dijon-Bourgogne, Dijon, France; Service de Dermatologie, Centre Hospitalo-Universitaire Dijon-Bourgogne, Dijon, France.

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http://dx.doi.org/10.1016/j.jid.2016.01.015DOI Listing
May 2016

OFIP/KIAA0753 forms a complex with OFD1 and FOR20 at pericentriolar satellites and centrosomes and is mutated in one individual with oral-facial-digital syndrome.

Hum Mol Genet 2016 Feb 7;25(3):497-513. Epub 2015 Dec 7.

Equipe d'Accueil 4271, Génétique des Anomalies du Développement, Université Fédérale Bourgogne - Franche Comté, F-21079 Dijon, France, Fédération Hospitalo-Universitaire Médecine Translationnelle et Anomalies du Développement (TRANSLAD), Centre de Génétique et Centre de Référence Anomalies du Développement et Syndromes Malformatifs de l'Interrégion Est,

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http://dx.doi.org/10.1093/hmg/ddv488DOI Listing
February 2016

Autosomal-recessive SASH1 variants associated with a new genodermatosis with pigmentation defects, palmoplantar keratoderma and skin carcinoma.

Eur J Hum Genet 2015 Jul 15;23(7):957-62. Epub 2014 Oct 15.

1] Equipe d'Accueil 4271, Génétique des Anomalies du Développement, Université de Bourgogne, Dijon, France [2] Centre de Génétique et Centre de Référence Anomalies du Développement et Syndromes Malformatifs de l'Interrégion Est, Centre Hospitalier Universitaire Dijon, Dijon, France.

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http://dx.doi.org/10.1038/ejhg.2014.213DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4463501PMC
July 2015

Mutations in SLC13A5 cause autosomal-recessive epileptic encephalopathy with seizure onset in the first days of life.

Am J Hum Genet 2014 Jul;95(1):113-20

Fédération Hospitalo-Universitaire Médecine Translationnelle et Anomalies du Développement (TRANSLAD), Centre Hospitalier Universitaire Dijon, 21079 Dijon, France; Equipe d'Accueil 4271, Génétique des Anomalies du Développement, Université de Bourgogne, 21079 Dijon, France; Laboratoire de Génétique Moléculaire, Plateau Technique de Biologie, Centre Hospitalier Universitaire Dijon, 21079 Dijon, France. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2014.06.006DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4085634PMC
July 2014

Expanding the differential diagnosis of fetal hydrops: an unusual prenatal presentation of megalencephaly-capillary malformation syndrome.

Prenat Diagn 2013 Oct 23;33(10):1010-2. Epub 2013 Jul 23.

Division of Human Genetics, Department of Pediatrics, University of Pennsylvania School of Medicine and The Children's Hospital of Philadelphia, Philadelphia, PA, USA; Division of Neonatology, Department of Pediatrics, University of Pennsylvania School of Medicine and The Children's Hospital of Philadelphia, Philadelphia, PA, USA.

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http://dx.doi.org/10.1002/pd.4178DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3962827PMC
October 2013

Megalencephaly syndromes and activating mutations in the PI3K-AKT pathway: MPPH and MCAP.

Am J Med Genet C Semin Med Genet 2013 May 16;163C(2):122-30. Epub 2013 Apr 16.

Department of Pediatrics, Center for Integrative Brain Research, University of Washington, Seattle Children's Research Institute, Seattle, WA, USA.

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http://doi.wiley.com/10.1002/ajmg.c.31361
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http://dx.doi.org/10.1002/ajmg.c.31361DOI Listing
May 2013

Expanding the differential diagnosis of inherited neuropathies with non-uniform conduction: Andermann syndrome.

J Peripher Nerv Syst 2012 Mar;17(1):123-7

Department of Neurosciences and Behavior Neurosciences, School of Medicine of Ribeirão Preto, University of São Paulo, Av. Bandeirantes 3900, São Paulo, Brazil.

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http://doi.wiley.com/10.1111/j.1529-8027.2012.00374.x
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http://dx.doi.org/10.1111/j.1529-8027.2012.00374.xDOI Listing
March 2012

Glucocerebrosidase mutations in a French-Canadian Parkinson's disease cohort.

Can J Neurol Sci 2011 Sep;38(5):772-3

Center of Excellence in Neuroscience of Université de Montréal (CENUM), Centre de Recherche du Centre Hospitalier de l'Université de Montréal (CRCHUM), Canada.

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http://dx.doi.org/10.1017/s0317167100012300DOI Listing
September 2011

Genome-wide TDT analysis in French-Canadian families with Tourette syndrome.

Can J Neurol Sci 2010 Jan;37(1):110-2

The Centre of Excellence in Neuromics, CHUM Research Center Department of Medicine, University of Montreal, Montreal, Quebec, Canada.

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http://dx.doi.org/10.1017/s0317167100009744DOI Listing
January 2010

Association of intronic variants of the BTBD9 gene with Tourette syndrome.

Arch Neurol 2009 Oct;66(10):1267-72

Sainte Justine Hospital Research Center and the Center of Excellence in Neuromics, University of Montreal, Montreal, QC H2L 4M1, Canada.

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http://dx.doi.org/10.1001/archneurol.2009.213DOI Listing
October 2009

Genetic association studies of neurotensin gene and restless legs syndrome in French Canadians.

Sleep Med 2008 Mar 17;9(3):273-82. Epub 2007 Jul 17.

Center for the Study of Brain Diseases, CHUM Research Center - Notre Dame Hospital, University of Montreal, Bureau Y-3616-2, 1560, rue Sherbrooke Est, Montréal, Que., Canada H2L 4MI.

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https://linkinghub.elsevier.com/retrieve/pii/S13899457070012
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http://dx.doi.org/10.1016/j.sleep.2007.03.020DOI Listing
March 2008

Molecular genetic studies of DMT1 on 12q in French-Canadian restless legs syndrome patients and families.

Am J Med Genet B Neuropsychiatr Genet 2007 Oct;144B(7):911-7

Laboratoire d'étude des maladies du cerveau, Centre de recherche du CHUM, Hôpital Notre-Dame, Université de Montréal, 1560 rue Sherbrooke Est, Montréal, Québec, Canada.

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http://dx.doi.org/10.1002/ajmg.b.30528DOI Listing
October 2007

LRRK2 is not a significant cause of Parkinson's disease in French-Canadians.

Can J Neurol Sci 2007 Aug;34(3):333-5

Faculty of Medicine, Laval University, Department of Neurological Sciences, CHAUQ-Enfant Jésus, Quebec City, Quebec, Canada.

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http://dx.doi.org/10.1017/s0317167100006776DOI Listing
August 2007

Patients with familial biparental hydatidiform moles have normal methylation at imprinted genes.

Eur J Hum Genet 2005 Apr;13(4):486-90

Institute of Experimental Haematology and Transfusion Medicine, Bonn, Germany.

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http://dx.doi.org/10.1038/sj.ejhg.5201353DOI Listing
April 2005

CAA insertion polymorphism in the 3'UTR of Nogo gene on 2p14 is not associated with schizophrenia.

Brain Res Mol Brain Res 2005 Jan;133(1):153-6

Department of Psychiatry, Douglas Hospital Research Centre, 6875 Boulevard Lasalle, FBC Pavillion, Verdun, Quebec, Canada H4H1R3.

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http://dx.doi.org/10.1016/j.molbrainres.2004.08.024DOI Listing
January 2005

A mutation in the HSN2 gene causes sensory neuropathy type II in a Lebanese family.

Ann Neurol 2004 Oct;56(4):572-5

Centre for Research in Neurosciences and Department of Neurology and Neurosurgery, McGill University, Montreal, Quebec, Canada.

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http://dx.doi.org/10.1002/ana.20237DOI Listing
October 2004

The 14q restless legs syndrome locus in the French Canadian population.

Ann Neurol 2004 Jun;55(6):887-91

Centre for Research in Neuroscience, McGill University Health Centre Research Institute, Montreal General Hospital, Quebec, Canada.

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http://doi.wiley.com/10.1002/ana.20140
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http://dx.doi.org/10.1002/ana.20140DOI Listing
June 2004

Association between 7q31 markers and Tourette syndrome.

Am J Med Genet A 2004 May;127A(1):17-20

Research Institute, McGill University Health Centre, 1650 Cedar Avenue, Montreal, Quebec H3G 1A4, Canada.

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http://dx.doi.org/10.1002/ajmg.a.20631DOI Listing
May 2004