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Patrice Bouvagnet
Patrice Bouvagnet
Laboratoire Génétique, CHU Martinique, France
在 chu-martinique.fr 的电子邮件经过验证
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引用次数
引用次数
年份
The complete nucleotide sequence of the human immunoglobulin heavy chain variable region locus
F Matsuda, K Ishii, P Bourvagnet, K Kuma, H Hayashida, T Miyata, ...
The Journal of experimental medicine 188 (11), 2151-2162, 1998
6091998
Circumstances of death and gross and microscopic observations in a series of 200 cases of sudden death associated with arrhythmogenic right ventricular cardiomyopathy and/or …
A Tabib, R Loire, L Chalabreysse, D Meyronnet, A Miras, D Malicier, ...
Circulation 108 (24), 3000-3005, 2003
4662003
Axonemal dynein intermediate-chain gene (DNAI1) mutations result in situs inversus and primary ciliary dyskinesia (Kartagener syndrome)
C Guichard, MC Harricane, JJ Lafitte, P Godard, M Zaegel, V Tack, ...
The American Journal of Human Genetics 68 (4), 1030-1035, 2001
3372001
Gain-of-Function Mutations in TRPM4 Cause Autosomal Dominant Isolated Cardiac Conduction Disease
H Liu, L El Zein, M Kruse, R Guinamard, A Beckmann, A Bozio, G Kurtbay, ...
Circulation: Cardiovascular Genetics 3 (4), 374-385, 2010
2362010
Prevalence and spectrum of mutations in a cohort of 192 unrelated patients with hypertrophic cardiomyopathy
G Millat, P Bouvagnet, P Chevalier, C Dauphin, PS Jouk, A Da Costa, ...
European journal of medical genetics 53 (5), 261-267, 2010
1902010
Molecular genetics and functional anomalies in a series of 248 Brugada cases with 11 mutations in the TRPM4 channel
H Liu, S Chatel, C Simard, N Syam, L Salle, V Probst, J Morel, G Millat, ...
PloS one 8 (1), e54131, 2013
1742013
Multiple positive and negative 5′ regulatory elements control the cell-type-specific expression of the embryonic skeletal myosin heavy-chain gene
PF Bouvagnet, EE Strehler, GE White, MA Strehler-Page, B Nadal-Ginard, ...
Molecular and cellular biology, 1987
1391987
X-linked transposition of the great arteries and incomplete penetrance among males with a nonsense mutation in ZIC3
A Mégarbané, N Salem, E Stephan, R Ashoush, D Lenoir, V Delague, ...
European Journal of Human Genetics 8 (9), 704-708, 2000
1352000
Clinical and mutational spectrum in a cohort of 105 unrelated patients with dilated cardiomyopathy
G Millat, P Bouvagnet, P Chevalier, L Sebbag, A Dulac, C Dauphin, ...
European Journal of Medical Genetics 54 (6), e570-e575, 2011
1302011
Mapping of a new locus for autosomal recessive demyelinating Charcot-Marie-Tooth disease to 19q13. 1-13.3 in a large consanguineous Lebanese family: exclusion of MAG as a …
V Delague, C Bareil, S Tuffery, P Bouvagnet, E Chouery, S Koussa, ...
The American Journal of Human Genetics 67 (1), 236-243, 2000
1222000
Fiber types and myosin types in human atrial and ventricular myocardium. An anatomical description.
P Bouvagnet, JOC Léger, F Pons, C Dechesne, JJ Leger
Circulation research 55 (6), 794-804, 1984
1181984
Spectrum of pathogenic mutations and associated polymorphisms in a cohort of 44 unrelated patients with long QT syndrome
G Millat, P Chevalier, L Restier‐Miron, A Da Costa, P Bouvagnet, ...
Clinical genetics 70 (3), 214-227, 2006
1142006
Cardiac alpha-myosin (MYH6) is the predominant sarcomeric disease gene for familial atrial septal defects
MG Posch, S Waldmuller, M Müller, T Scheffold, D Fournier, ...
PloS one 6 (12), e28872, 2011
1052011
Identification, genomic organization, chromosomal mapping and mutation analysis of the human INV gene, the ortholog of a murine gene implicated in left-right axis …
P Schön, K Tsuchiya, D Lenoir, T Mochizuki, C Guichard, S Takai, ...
Human genetics 110, 157-165, 2002
1052002
TRPM4 in cardiac electrical activity
R Guinamard, P Bouvagnet, T Hof, H Liu, C Simard, L Sallé
Cardiovascular research 108 (1), 21-30, 2015
942015
Targeted NGS gene panel identifies mutations in RSPH1 causing primary ciliary dyskinesia and a common mechanism for ciliary central pair agenesis due to radial …
A Onoufriadis, A Shoemark, M Schmidts, M Patel, G Jimenez, H Liu, ...
Human molecular genetics 23 (13), 3362-3374, 2014
932014
MMP21 is mutated in human heterotaxy and is required for normal left-right asymmetry in vertebrates
A Guimier, GC Gabriel, F Bajolle, M Tsang, H Liu, A Noll, M Schwartz, ...
Nature genetics 47 (11), 1260-1263, 2015
912015
Levels of ventricular myosin fragments in human sera after myocardial infarction, determined with monoclonal antibodies to myosin heavy chains
JOC Leger, P Bouvagnet, B Pau, R Roncucci, JJ Leger
European journal of clinical investigation 15 (6), 422-429, 1985
851985
Functional and structural basis of the nuclear localization signal in the ZIC3 zinc finger domain
M Hatayama, T Tomizawa, K Sakai-Kato, P Bouvagnet, S Kose, ...
Human molecular genetics 17 (22), 3459-3473, 2008
782008
Ciliary Beating Recovery in Deficient Human Airway Epithelial Cells after Lentivirus Ex Vivo Gene Therapy
B Chhin, D Negre, O Merrot, J Pham, Y Tourneur, D Ressnikoff, M Jaspers, ...
PLoS genetics 5 (3), e1000422, 2009
742009
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