Publications by authors named "Patrice Bouvagnet"

39Publications

Familial co-occurrence of congenital heart defects follows distinct patterns.

Eur Heart J 2018 03;39(12):1015-1022

Wilhelm Johannsen Centre for Functional Genome Research, Department of Cellular and Molecular Medicine, University of Copenhagen, Blegdamsvej 3, DK-2200 Copenhagen, Denmark.

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http://dx.doi.org/10.1093/eurheartj/ehx314DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6018923PMC
March 2018

A HAND to TBX5 Explains the Link Between Thalidomide and Cardiac Diseases.

Sci Rep 2017 05 3;7(1):1416. Epub 2017 May 3.

Departments of Biochemistry and Molecular Genetics, American University of Beirut, Beirut, Lebanon.

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http://dx.doi.org/10.1038/s41598-017-01641-3DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5431093PMC
May 2017

TRPM4 non-selective cation channel variants in long QT syndrome.

BMC Med Genet 2017 03 18;18(1):31. Epub 2017 Mar 18.

Laboratoire Cardiogénétique, Institut de Biologie et Chimie des Protéines, INSERM UMR 5305, Université Lyon 1, Lyon, France.

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http://dx.doi.org/10.1186/s12881-017-0397-4DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5357330PMC
March 2017

[A gene coding for a metalloprotease for the first time implied in heterotaxy].

Med Sci (Paris) 2016 Jun-Jul;32(6-7):551-3. Epub 2016 Jul 12.

Inserm U 1163, Institut Imagine, 24, boulevard Montparnasse, 75014 Paris, France.

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http://dx.doi.org/10.1051/medsci/20163206007DOI Listing
July 2017

[About a case of a recurrent glandular cardiac myxoma in a child].

Ann Pathol 2016 Jun 24;36(3):214-7. Epub 2016 May 24.

Service d'anatomie et cytologie pathologique, groupement hospitalier Est, hospices civils de Lyon, 59, boulevard Pinel, 69677 Lyon, France. Electronic address:

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http://dx.doi.org/10.1016/j.annpat.2016.01.007DOI Listing
June 2016

Unraveling De Novo Copy Number Variants in Congenital Heart Defects: The Bottom of the Iceberg Is Under Attack.

Circ Cardiovasc Genet 2016 Feb;9(1):4-5

From Laboratoire Cardiogénétique, INMG, CNRS UMR 5310, INSERM U1217 and Université Lyon 1, Lyon, France and Laboratoire Cardiogénétique, Hospices Civils de Lyon, Lyon, France.

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http://dx.doi.org/10.1161/CIRCGENETICS.116.001360DOI Listing
February 2016

TRPM4 in cardiac electrical activity.

Cardiovasc Res 2015 Oct 13;108(1):21-30. Epub 2015 Aug 13.

Groupe Signalisation, Electrophysiologie et Imagerie des Lésions d'Ischémie-Reperfusion Myocardique, EA4650, Université de Caen Basse-Normandie, Sciences D, Esplanade de la Paix, CS 14032, 14032 Caen Cedex 5, France.

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http://dx.doi.org/10.1093/cvr/cvv213DOI Listing
October 2015

A Novel Alpha Cardiac Actin (ACTC1) Mutation Mapping to a Domain in Close Contact with Myosin Heavy Chain Leads to a Variety of Congenital Heart Defects, Arrhythmia and Possibly Midline Defects.

PLoS One 2015 10;10(6):e0127903. Epub 2015 Jun 10.

EA 4173, Université Lyon 1 and Hôpital Nord-Ouest, Lyon, France; Laboratoire Cardiogénétique Malformation, Centre de Biologie et Pathologie Est, Hospices Civils de Lyon, Bron, France; Service de Cardiologie Pédiatrique, Hôpital Louis Pradel, Hospices Civils de Lyon, Bron, France.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0127903PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4464657PMC
April 2016

Evidence for genetic heterogeneity in Carvajal syndrome.

Cell Tissue Res 2012 May 17;348(2):261-4. Epub 2012 Feb 17.

Laboratoire Cardiogénétique, Centre de Biologie et Pathologie Est, Groupe Hospitalier Est, Bron, France.

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http://dx.doi.org/10.1007/s00441-012-1351-6DOI Listing
May 2012

Validation of high-resolution DNA melting analysis for mutation scanning of the LMNA gene.

Clin Biochem 2009 Jun 6;42(9):892-8. Epub 2009 Feb 6.

Laboratoire de Cardiogénétique Moléculaire, Centre de Biologie et Pathologie Est, Hospices Civils de Lyon, Bron, France.

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http://dx.doi.org/10.1016/j.clinbiochem.2009.01.016DOI Listing
June 2009

Functional and structural basis of the nuclear localization signal in the ZIC3 zinc finger domain.

Hum Mol Genet 2008 Nov 20;17(22):3459-73. Epub 2008 Aug 20.

Laboratory for Behavioral and Developmental Disorders, RIKEN Brain Science Institute, Wako-shi, Saitama, Japan.

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http://dx.doi.org/10.1093/hmg/ddn239DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2572694PMC
November 2008

A de novo mutation of the beta cardiac myosin heavy chain gene in an infantile restrictive cardiomyopathy.

Congenit Heart Dis 2008 Mar-Apr;3(2):138-43

Department of Pediatric Cardiology, Groupe Hospitalier Est, Hospices Civils de Lyon, Lyon, France.

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http://dx.doi.org/10.1111/j.1747-0803.2008.00165.xDOI Listing
June 2008

Congenital cardiac disease and inbreeding: specific defects escape higher risk due to parental consanguinity.

Cardiol Young 2007 Aug 27;17(4):414-22. Epub 2007 Jun 27.

Department of Paediatrics, Lebanese University, Faculty of Medical Sciences, Hadath, Greater Beirut, Lebanon.

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http://dx.doi.org/10.1017/S1047951107000704DOI Listing
August 2007

Genetics of congenital heart defects.

Rev Port Cardiol 2004 Jan;23(1):137-42

Deutsches Herzzentrum München.

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January 2004

Lateralization defects and ciliary dyskinesia: lessons from algae.

Trends Genet 2003 Mar;19(3):162-7

Laboratoire de Génétique Moléculaire Humaine, Faculté de Médecine Pharmacie, 8 avenue Rockefeller, 69373 Lyon Cedex 8, France.

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http://dx.doi.org/10.1016/S0168-9525(03)00026-XDOI Listing
March 2003