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Functionally validated SCN5A variants allow interpretation of pathogenicity and prediction of lethal events in Brugada syndrome
Functionally validated SCN5A variants allow interpretation of pathogenicity and prediction of lethal events in Brugada syndrome
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Functionally validated SCN5A variants allow interpretation of pathogenicity and prediction of lethal events in Brugada syndrome

Ishikawa, Taisuke ; Kimoto, Hiroki ; Mishima, Hiroyuki ; Yamagata, Kenichiro ; Ogata, Soshiro ; Aizawa, Yoshiyasu ; Hayashi, Kenshi ; Morita, Hiroshi ; Nakajima, Tadashi ; Nakano, Yukiko ; Nagase, Satoshi ; Murakoshi, Nobuyuki ; Kowase, Shinya ; Ohkubo, Kimie ; Aiba, Takeshi ; Morimoto, Shimpei ; Ohno, Seiko ; Kamakura, Shiro ; Nogami, Akihiko ; Takagi, Masahiko ; Karakachoff, Matilde ; Dina, Christian ; Schott, Jean-Jacques ; Yoshiura, Koh-Ichiro ; Horie, Minoru ; Shimizu, Wataru ; Nishimura, Kunihiro ; Kusano, Kengo ; Makita, Naomasa

European heart journal, 2021-07, Vol.42 (29), p.2854-2863 [Periódico revisado por pares]

England: Oxford University Press

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2
Genetics of syndromic and non-syndromic mitral valve prolapse
Genetics of syndromic and non-syndromic mitral valve prolapse
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Genetics of syndromic and non-syndromic mitral valve prolapse

Le Tourneau, Thierry ; Mérot, Jean ; Rimbert, Antoine ; Le Scouarnec, Solena ; Probst, Vincent ; Le Marec, Hervé ; Levine, Robert A ; Schott, Jean-Jacques

Heart (British Cardiac Society), 2018-06, Vol.104 (12), p.978-984 [Periódico revisado por pares]

England: BMJ Publishing Group LTD

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3
An international compendium of mutations in the SCN5A -encoded cardiac sodium channel in patients referred for Brugada syndrome genetic testing
An international compendium of mutations in the SCN5A -encoded cardiac sodium channel in patients referred for Brugada syndrome genetic testing
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An international compendium of mutations in the SCN5A -encoded cardiac sodium channel in patients referred for Brugada syndrome genetic testing

Kapplinger, Jamie D., BA ; Tester, David J., BS ; Alders, Marielle, PhD ; Benito, Begoña, MD ; Berthet, Myriam, BA ; Brugada, Josep, MD, PhD ; Brugada, Pedro, MD, PhD ; Fressart, Véronique, MD ; Guerchicoff, Alejandra, PhD ; Harris-Kerr, Carole, PhD ; Kamakura, Shiro, MD, PhD ; Kyndt, Florence, PhD ; Koopmann, Tamara T., PhD ; Miyamoto, Yoshihiro, MD ; Pfeiffer, Ryan, BS ; Pollevick, Guido D., PhD ; Probst, Vincent, MD, PhD ; Zumhagen, Sven, MD ; Vatta, Matteo, PhD ; Towbin, Jeffrey A., MD ; Shimizu, Wataru, MD, PhD ; Schulze-Bahr, Eric, MD ; Antzelevitch, Charles, PhD ; Salisbury, Benjamin A., PhD ; Guicheney, Pascale, PhD ; Wilde, Arthur A.M., MD, PhD ; Brugada, Ramon, MD, PhD ; Schott, Jean-Jacques, PhD ; Ackerman, Michael J., MD, PhD

Heart rhythm, 2010-01, Vol.7 (1), p.33-46 [Periódico revisado por pares]

United States: Elsevier Inc

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4
SCN5A Mutations and the Role of Genetic Background in the Pathophysiology of Brugada Syndrome
SCN5A Mutations and the Role of Genetic Background in the Pathophysiology of Brugada Syndrome
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SCN5A Mutations and the Role of Genetic Background in the Pathophysiology of Brugada Syndrome

Probst, Vincent ; Wilde, Arthur A.M ; Barc, Julien ; Sacher, Frederic ; Babuty, Dominique ; Mabo, Philippe ; Mansourati, Jacques ; Le Scouarnec, Solena ; Kyndt, Florence ; Le Caignec, Cedric ; Guicheney, Pascale ; Gouas, Laetitia ; Albuisson, Juliette ; Meregalli, Paola G ; Le Marec, Herve ; Tan, Hanno L ; Schott, Jean-Jacques

Circulation. Cardiovascular genetics, 2009-12, Vol.2 (6), p.552-557 [Periódico revisado por pares]

United States: American Heart Association, Inc

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5
Identification of Large Families in Early Repolarization Syndrome
Identification of Large Families in Early Repolarization Syndrome
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Identification of Large Families in Early Repolarization Syndrome

Gourraud, Jean-Baptiste, MD ; Le Scouarnec, Solena, PhD ; Sacher, Frederic, MD ; Chatel, Stéphanie, PhD ; Derval, Nicolas, MD ; Portero, Vincent, MS ; Chavernac, Pascal, MD ; Sandoval, Juan E., PhD ; Mabo, Philippe, MD, PhD ; Redon, Richard, PhD ; Schott, Jean-Jacques, PhD ; Le Marec, Hervé, MD, PhD ; Haïssaguerre, Michel, MD, PhD ; Probst, Vincent, MD, PhD

Journal of the American College of Cardiology, 2013-01, Vol.61 (2), p.164-172 [Periódico revisado por pares]

New York, NY: Elsevier Inc

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6
Type of SCN5A mutation determines clinical severity and degree of conduction slowing in loss-of-function sodium channelopathies
Type of SCN5A mutation determines clinical severity and degree of conduction slowing in loss-of-function sodium channelopathies
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Type of SCN5A mutation determines clinical severity and degree of conduction slowing in loss-of-function sodium channelopathies

Meregalli, Paola G., MD ; Tan, Hanno L., MD, PhD ; Probst, Vincent, MD, PhD ; Koopmann, Tamara T., PhD ; Tanck, Michael W., PhD ; Bhuiyan, Zahurul A., MD, PhD ; Sacher, Frederic, MD ; Kyndt, Florence, PharmD, PhD ; Schott, Jean-Jacques, PhD ; Albuisson, J., MD ; Mabo, Philippe, MD ; Bezzina, Connie R., PhD ; Le Marec, Herve, MD, PhD ; Wilde, Arthur A.M., MD, PhD

Heart rhythm, 2009-03, Vol.6 (3), p.341-348 [Periódico revisado por pares]

United States: Elsevier Inc

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7
Clinical aspects and prognosis of brugada syndrome in children
Clinical aspects and prognosis of brugada syndrome in children
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Clinical aspects and prognosis of brugada syndrome in children

PROBST, Vincent ; DENJOY, Isabelle ; LUPOGLAZOFF, Jean-Marc ; MABO, Philippe ; VELTMANN, Christian ; JESEL, Laurence ; CHEVALIER, Philippe ; CLUR, Sally-Ann B ; HAISSAGUERRE, Michel ; WOLPERT, Christian ; LE MAREC, Hervé ; WILDE, Arthur A. M ; MEREGALLI, Paola G ; AMIRAULT, Jean-Christophe ; SACHER, Frédéric ; MANSOURATI, Jacques ; BABUTY, Dominique ; VILLAIN, Elisabeth ; VICTOR, Jacques ; SCHOTT, Jean-Jacques

Circulation (New York, N.Y.), 2007-04, Vol.115 (15), p.2042-2048 [Periódico revisado por pares]

Hagerstown, MD: Lippincott Williams & Wilkins

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8
Defects in Ankyrin-Based Membrane Protein Targeting Pathways Underlie Atrial Fibrillation
Defects in Ankyrin-Based Membrane Protein Targeting Pathways Underlie Atrial Fibrillation
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Defects in Ankyrin-Based Membrane Protein Targeting Pathways Underlie Atrial Fibrillation

CUNHA, Shane R ; HUND, Thomas J ; KARCK, Matthias ; SCHOTT, Jean-Jacques ; PROBST, Vincent ; LE MAREC, Herve ; ANDERSON, Mark E ; DOBREV, Dobromir ; WEHRENS, Xander H. T ; MOHLER, Peter J ; HASHEMI, Seyed ; VOIGT, Niels ; NA LI ; WRIGHT, Patrick ; KOVAL, Olha ; JINGDONG LI ; GUDMUNDSSON, Hjalti ; GUMINA, Richard J

Circulation (New York, N.Y.), 2011-09, Vol.124 (11), p.1212-1222 [Periódico revisado por pares]

Hagerstown, MD: Lippincott Williams & Wilkins

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9
Mutations in the gene encoding filamin a as a cause for familial cardiac valvular dystrophy
Mutations in the gene encoding filamin a as a cause for familial cardiac valvular dystrophy
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Mutations in the gene encoding filamin a as a cause for familial cardiac valvular dystrophy

KYNDT, Florence ; GUEFFET, Jean-Pierre ; NEWBURY-ECOB, Ruth ; TRAN, Vinh ; YOUNG, Ian ; TROCHU, Jean-Noël ; LE MAREC, Hervé ; SCHOTT, Jean-Jacques ; PROBST, Vincent ; JAAFAR, Philippe ; LEGENDRE, Antoine ; LE BOUFFANT, Francoise ; TOQUET, Claire ; ROY, Estelle ; MCGREGOR, Lesley ; LYNCH, Sally Ann

Circulation (New York, N.Y.), 2007-01, Vol.115 (1), p.40-49 [Periódico revisado por pares]

Hagerstown, MD: Lippincott Williams & Wilkins

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10
TRPM4 non-selective cation channel variants in long QT syndrome
TRPM4 non-selective cation channel variants in long QT syndrome
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TRPM4 non-selective cation channel variants in long QT syndrome

Hof, Thomas ; Liu, Hui ; Sallé, Laurent ; Schott, Jean-Jacques ; Ducreux, Corinne ; Millat, Gilles ; Chevalier, Philippe ; Probst, Vincent ; Guinamard, Romain ; Bouvagnet, Patrice

BMC medical genetics, 2017-03, Vol.18 (1), p.31-31, Article 31 [Periódico revisado por pares]

England: BioMed Central Ltd

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