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	Pour les 64 documents Envoyer sur ORCID RSS ATOM Exporter BibTeX XML-TEI CSV RTF EndNote PDF HTML Export avancé	Page : Page précédente 1 2 3 Page suivante	triés par Pertinence Auteur A→Z Auteur Z→A Titre A→Z Titre Z→A Date de publication croissante Date de publication décroissante Date de dépôt croissante Date de dépôt décroissante

		Statistical tests for Rare Variants Data Rare Variants in Human Genetic Diseases: Comparison of Association Statistical Tests Lise Bellanger , Elodie Persyn , Floriane Simonet , Richard Redon , Jean-Jacques Schott , et al. International Biometric Conference, Jul 2014, Florence, Italy Poster de conférence hal-01160576v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		SCN5A Mutation Type and a Genetic Risk Score Associate Variably With Brugada Syndrome Phenotype in SCN5A Families Yanushi Wijeyeratne , Michael Tanck , Yuka Mizusawa , Velislav Batchvarov , Julien Barc , et al. Circulation: Genomic and Precision Medicine, 2020, 13 (6), ⟨10.1161/CIRCGEN.120.002911⟩ Article dans une revue hal-04000097v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Genetics of syndromic and non-syndromic mitral valve prolapse Thierry Le Tourneau , Jean Mérot , Antoine Rimbert , Solena Le Scouarnec , Vincent Probst , et al. Heart, 2018, Equipe I, 104 (12), pp.978 - 984. ⟨10.1136/heartjnl-2017-312420⟩ Article dans une revue hal-01833921v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Variants in the SCN5A Promoter Associated With Various Arrhythmia Phenotypes Nobue Yagihara , Hiroshi Watanabe , Phil Barnett , Laetitia Duboscq-Bidot , Atack C. Thomas , et al. Journal of the American Heart Association, 2016, 5 (9), ⟨10.1161/JAHA.116.003644⟩ Article dans une revue hal-01831755v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Parental electrocardiographic screening identifies a high degree of inheritance for congenital and childhood nonimmune isolated atrioventricular block. Alban-Elouen Baruteau , Albin Behaghel , Swanny Fouchard , Philippe Mabo , Jean-Jacques Schott , et al. Circulation, 2012, 126 (12), pp.1469-77. ⟨10.1161/CIRCULATIONAHA.111.069161⟩ Article dans une revue hal-00880957v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Type of SCN5A mutation determines clinical severity and degree of conduction slowing in loss-of-function sodium channelopathies. Paola G Meregalli , Hanno L Tan , Vincent Probst , Tamara T Koopmann , Michael W Tanck , et al. Heart Rhythm, 2009, 6 (3), pp.341-8. ⟨10.1016/j.hrthm.2008.11.009⟩ Article dans une revue hal-00913229v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Detection, cloning, and distribution of minisatellites in some mammalian genomes. Gilles Vergnaud , D Gauguier , J J Schott , D Lepetit , V Lauthier , et al. EXS, 1992, 67, pp.47-57. ⟨10.1007/978-3-0348-8583-6_4⟩ Article dans une revue hal-01160685v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Mutations in DCHS1 cause mitral valve prolapse Ronen Durst , Kimberly Sauls , David S. Peal , Annemarieke Devlaming , Katelynn Toomer , et al. Nature, 2015, Equipe 3, 525 (7567), pp.109--113. ⟨10.1038/nature14670⟩ Article dans une revue hal-01830584v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		TRPM4 non-selective cation channel variants in long QT syndrome Thomas Hof , Hui Liu , Laurent Sallé , Jean-Jacques Schott , Corinne Ducreux , et al. BMC Medical Genetics, 2017, Equipe I, 18 (1), pp.31. ⟨10.1186/s12881-017-0397-4⟩ Article dans une revue hal-01832144v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		MVP-Associated Filamin A Mutations Affect FlnA-PTPN12 (PTP-PEST) Interactions Damien Duval , Pauline Labbé , Léa Bureau , Thierry Le Tourneau , Russell A. Norris , et al. Journal of Cardiovascular Development and Disease, 2015, Equipe 3, 2 (3), pp.233--247. ⟨10.3390/jcdd2030233⟩ Article dans une revue hal-01830581v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		0211 : Implications of baselines 2010 task force criterias on ventricular arrhythmias in ARVC Nelly Amara , Jean-Baptiste Gourraud , Arnaud Denis , Philippe Mabo , Aurélie Thollet , et al. Archives of Cardiovascular Diseases Supplements, Apr 2015, Toulouse, France. pp.169, ⟨10.1016/S1878-6480(15)30103-8⟩ Communication dans un congrès hal-01150489v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		0185 : Genetic screening identifies a high proportion of mutations in patients with idiopathic ventricular fibrillation and sudden cardiac death Vincent Probst , Solena Le Scouarnec , Florence Kyndt , Jean-Jacques Schott , Jean-Baptiste Gourraud , et al. Archives of Cardiovascular Diseases Supplements, Apr 2015, Toulouse, France. pp.170, ⟨10.1016/S1878-6480(15)30107-5⟩ Communication dans un congrès hal-01150486v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		The alternatively spliced LRRFIP1 Isoform-1 is a key regulator of the Wnt/β-catenin transcription pathway Pauline Labbé , Emilie Faure , Simon Lecointe , Solena Le Scouarnec , Florence Kyndt , et al. BBA - Biochimica et Biophysica Acta, 2017, Equipe I, 1864 (7), pp.1142-1152. ⟨10.1016/j.bbamcr.2017.03.008⟩ Article dans une revue hal-01832152v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Mutations in the gene encoding filamin A as a cause for familial cardiac valvular dystrophy Vinh Tran , F. Kyndt , J.P. Gueffet , V. Probst , P. Jaafar , et al. Circulation, 2007, 115 (1), pp.40-9 Article dans une revue hal-00172816v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Characteristics and long-term outcome of non-immune isolated atrioventricular block diagnosed in utero or early childhood: a multicentre study. Alban-Elouen Baruteau , Swanny Fouchard , Albin Behaghel , Philippe Mabo , Elisabeth Villain , et al. European Heart Journal, 2012, 33 (5), pp.622-9. ⟨10.1093/eurheartj/ehr347⟩ Article dans une revue hal-00880999v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Durability of transcatheter aortic valve implantation: A translational review Charles Fauvel , Romain Capoulade , Eric Durand , Delphine Béziau , Jean-Jacques Schott , et al. Archives of cardiovascular diseases, 2020, 113 (3), pp.209-221. ⟨10.1016/j.acvd.2019.11.007⟩ Article dans une revue hal-03034466v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Familial Catecholamine-Induced QT Prolongation in Unexplained Sudden Cardiac Death Francois Huchet , Florence Kyndt , Julien Barc , Aurelie Thollet , Flavien Charpentier , et al. Journal of the American College of Cardiology, 2017, Equipe I Equipe IIa, 69 (12), pp.1642--1643. ⟨10.1016/j.jacc.2017.01.030⟩ Article dans une revue hal-01832147v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Mitral valve disease−morphology and mechanisms Robert A. Levine , Albert A. Hagége , Daniel P. Judge , Muralidhar Padala , Jacob P. Dal-Bianco , et al. Nature Reviews Cardiology, 2015, 12 (12), pp.689--710. ⟨10.1038/nrcardio.2015.161⟩ Article dans une revue hal-01830969v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Identification of a strong genetic background for progressive cardiac conduction defect by epidemiological approach Jean-Baptiste Gourraud , Florence Kyndt , Swanny Fouchard , Eric Rendu , Philippe Jaafar , et al. Heart, 2012, 98 (17), pp.1305 - 1310. ⟨10.1136/heartjnl-2012-301872⟩ Article dans une revue istex inserm-01667205v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Value of the sodium-channel blocker challenge in Brugada syndrome Dylan Therasse , Frederic Sacher , Dominique Babuty , Philippe Mabo , Jacques Mansourati , et al. International Journal of Cardiology, 2017, 245, pp.178--180. ⟨10.1016/j.ijcard.2017.05.099⟩ Article dans une revue hal-01832133v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Rare Variants in Human Genetic Diseases: Comparison of Association Statistical Tests Lise Bellanger , Elodie Persyn , Floriane Simonet , Richard Redon , Jean-Jacques Schott , et al. International Biometric Conference, Jul 2014, Florence, Italy. http://www.ibs-italy.info/welcome.html Communication dans un congrès hal-01037977v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Mental stress test: a rapid, simple, and efficient test to unmask long QT syndrome Pauline Etienne , François Huchet , Nathalie Gaborit , Julien Barc , Aurélie Thollet , et al. EP-Europace, 2018, Equipe I Equipe IIa, ⟨10.1093/europace/euy078⟩ Article dans une revue hal-01833912v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Analysis for Genetic Modifiers of Disease Severity in Patients With Long-QT Syndrome Type 2 Iris C. R. M. Kolder , Michael W. T. Tanck , Pieter G. Postema , Julien Barc , Moritz F. Sinner , et al. Circulation. Cardiovascular Genetics, 2015, 8 (3), pp.447--456. ⟨10.1161/CIRCGENETICS.114.000785⟩ Article dans une revue hal-01830596v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		0186 : Genotype/phenotype relationship in a large cohort of long QT syndrome patients Aurélie Thollet , Philippe Mabo , Dominique Babuty , Jacques Mansourati , Jean-Marc Davy , et al. Archives of Cardiovascular Diseases Supplements, Apr 2015, Toulouse, France. pp.171, ⟨10.1016/S1878-6480(15)30109-9⟩ Communication dans un congrès hal-01150487v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		0210 : Effect of SCN5A mutations and SCN10A, SCN5A and HEY2 frequent variants on ECG of Brugada patients during ajmaline test Dylan Therasse , Floriane Simonet , Christian Dina , Aurélie Thollet , Philippe Mabo , et al. Archives of Cardiovascular Diseases Supplements, Apr 2015, Toulouse, France. pp.170--171, ⟨10.1016/S1878-6480(15)30108-7⟩ Communication dans un congrès hal-01150488v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Author Correction: Genome-wide association analyses identify new Brugada syndrome risk loci and highlight a new mechanism of sodium channel regulation in disease susceptibility Julien Barc , Rafik Tadros , Charlotte Glinge , David Chiang , Mariam Jouni , et al. Nature Genetics, In press, ⟨10.1038/s41588-022-01079-y⟩ Article dans une revue hal-03656107v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Transethnic Genome-Wide Association Study Provides Insights in the Genetic Architecture and Heritability of Long QT Syndrome Najim Lahrouchi , Rafik Tadros , Lia Crotti , Yuka Mizusawa , Pieter Postema , et al. Circulation, 2020, 142 (4), pp.324-338. ⟨10.1161/CIRCULATIONAHA.120.045956⟩ Article dans une revue hal-02946905v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Dysfunction of the Voltage-Gated K+ Channel beta 2 Subunit in a Familial Case of Brugada Syndrome Vincent Portero , Solena Le Scouarnec , Zeineb Es-Salah-Lamoureux , Sophie Burel , Jean-Baptiste Gourraud , et al. Journal of the American Heart Association, 2016, 5 (6), pp.e003122. ⟨10.1161/JAHA.115.003122⟩ Article dans une revue hal-01414464v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		The Brugada Syndrome: A Rare Arrhythmia Disorder with Complex Inheritance Jean-Baptiste Gourraud , Julien Barc , Aurélie Thollet , Solena Le Scouarnec , Hervé Le Marec , et al. Frontiers in Cardiovascular Medicine, 2016, 3, pp.9. ⟨10.3389/fcvm.2016.00009⟩ Article dans une revue hal-01831587v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Dysfunction in ankyrin-B-dependent ion channel and transporter targeting causes human sinus node disease Solena Le Scouarnec , N. Bhasin , C. Vieyres , T. J. Hund , S. R. Cunha , et al. Proceedings of the National Academy of Sciences of the United States of America, 2008, 105 (40), pp.15617-22. ⟨10.1073/pnas.0805500105⟩ Article dans une revue hal-02363777v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More

Filtrer vos résultats

Statistical tests for Rare Variants Data Rare Variants in Human Genetic Diseases: Comparison of Association Statistical Tests

SCN5A Mutation Type and a Genetic Risk Score Associate Variably With Brugada Syndrome Phenotype in SCN5A Families

Genetics of syndromic and non-syndromic mitral valve prolapse

Variants in the SCN5A Promoter Associated With Various Arrhythmia Phenotypes

Parental electrocardiographic screening identifies a high degree of inheritance for congenital and childhood nonimmune isolated atrioventricular block.

Type of SCN5A mutation determines clinical severity and degree of conduction slowing in loss-of-function sodium channelopathies.

Detection, cloning, and distribution of minisatellites in some mammalian genomes.

Mutations in DCHS1 cause mitral valve prolapse

TRPM4 non-selective cation channel variants in long QT syndrome

MVP-Associated Filamin A Mutations Affect FlnA-PTPN12 (PTP-PEST) Interactions

0211 : Implications of baselines 2010 task force criterias on ventricular arrhythmias in ARVC

0185 : Genetic screening identifies a high proportion of mutations in patients with idiopathic ventricular fibrillation and sudden cardiac death

The alternatively spliced LRRFIP1 Isoform-1 is a key regulator of the Wnt/β-catenin transcription pathway

Mutations in the gene encoding filamin A as a cause for familial cardiac valvular dystrophy

Characteristics and long-term outcome of non-immune isolated atrioventricular block diagnosed in utero or early childhood: a multicentre study.

Durability of transcatheter aortic valve implantation: A translational review

Familial Catecholamine-Induced QT Prolongation in Unexplained Sudden Cardiac Death

Mitral valve disease−morphology and mechanisms

Identification of a strong genetic background for progressive cardiac conduction defect by epidemiological approach

Value of the sodium-channel blocker challenge in Brugada syndrome

Rare Variants in Human Genetic Diseases: Comparison of Association Statistical Tests

Mental stress test: a rapid, simple, and efficient test to unmask long QT syndrome

Analysis for Genetic Modifiers of Disease Severity in Patients With Long-QT Syndrome Type 2

0186 : Genotype/phenotype relationship in a large cohort of long QT syndrome patients

0210 : Effect of SCN5A mutations and SCN10A, SCN5A and HEY2 frequent variants on ECG of Brugada patients during ajmaline test

Author Correction: Genome-wide association analyses identify new Brugada syndrome risk loci and highlight a new mechanism of sodium channel regulation in disease susceptibility

Transethnic Genome-Wide Association Study Provides Insights in the Genetic Architecture and Heritability of Long QT Syndrome

Dysfunction of the Voltage-Gated K+ Channel beta 2 Subunit in a Familial Case of Brugada Syndrome

The Brugada Syndrome: A Rare Arrhythmia Disorder with Complex Inheritance

Dysfunction in ankyrin-B-dependent ion channel and transporter targeting causes human sinus node disease