GAIN-OF-FUNCTION MUTATION IN THE VOLTAGE-GATED K+ CHANNEL BETA-2 SUBUNIT IS ASSOCIATED WITH BRUGADA SYNDROME
Portero, V, Le Scouarnec, S, Es-Salah-Lamoureux, Z, Burel, S, Gourraud, J, Bonnaud, S, Lindenbaum, P, Simonet, F, Violleau, J, Sandoval-Tortosa, J, Scott, C, Chatel, S, Loussouarn, G, O’Hara, T, Mabo, P, Dina, C, Le Marec, H, Schott, J, Probst, V, Baró, I, Marionneau, C, Charpentier, F, Redon, R
Published in Heart rhythm (01.11.2014)
Published in Heart rhythm (01.11.2014)
Get full text
Journal Article
Haplotypes in the gene encoding protein kinase c-beta (PRKCB1) on chromosome 16 are associated with autism
PHILIPPI, A, ROSCHMANN, E, MAILLARD, S, DECAULNE, V, SARAIVA, J. P, BROOKS, P, ROUSSEAU, F, HAGER, J, TORES, F, LINDENBAUM, P, BENAJOU, A, GERMAIN-LECLERC, L, MARCAILLOU, C, FONTAINE, K, VANPEENE, M, ROY, S
Published in Molecular psychiatry (01.10.2005)
Published in Molecular psychiatry (01.10.2005)
Get full text
Journal Article
Effectiveness of acoustic cameras as tools for assessing biogenic structures formed by Sabellaria in highly turbid environments
Griffin, Ross A., Jones, Robyn E., Lough, Natasha E.L., Lindenbaum, Charles P., Alvarez, Maria C., Clark, Katie A.J., Griffiths, Jonathan D., Clabburn, Peter A.T.
Published in Aquatic conservation (01.06.2020)
Published in Aquatic conservation (01.06.2020)
Get full text
Journal Article
Syndromic cardiac disorder is associated with a non-coding deletion that induces a 3D chromatin remodeling and PITX2 expression dysregulation
Baudic, M, Murata, H, Bosada, F M, Souto Melo, U, Aizawa, T, Guedon, A, Lindenbaum, P, Gourraud, J B, Makita, N, Mundlos, S, Christoffels, V M, Makiyama, T, Probst, V, Schott, J J, Barc, J
Published in European heart journal (03.10.2022)
Published in European heart journal (03.10.2022)
Get full text
Journal Article
Identification of a new VHL exon and complex splicing alterations in familial erythrocytosis or von Hippel-Lindau disease
Lenglet, Marion, Robriquet, Florence, Schwarz, Klaus, Camps, Carme, Couturier, Anne, Hoogewijs, David, Buffet, Alexandre, Knight, Samantha J.L., Gad, Sophie, Couvé, Sophie, Chesnel, Franck, Pacault, Mathilde, Lindenbaum, Pierre, Job, Sylvie, Dumont, Solenne, Besnard, Thomas, Cornec, Marine, Dreau, Helene, Pentony, Melissa, Kvikstad, Erika, Deveaux, Sophie, Burnichon, Nelly, Ferlicot, Sophie, Vilaine, Mathias, Mazzella, Jean-Michaël, Airaud, Fabrice, Garrec, Céline, Heidet, Laurence, Irtan, Sabine, Mantadakis, Elpis, Bouchireb, Karim, Debatin, Klaus-Michael, Redon, Richard, Bezieau, Stéphane, Bressac-de Paillerets, Brigitte, Teh, Bin Tean, Girodon, François, Randi, Maria-Luigia, Putti, Maria Caterina, Bours, Vincent, Van Wijk, Richard, Göthert, Joachim R., Kattamis, Antonis, Janin, Nicolas, Bento, Celeste, Taylor, Jenny C., Arlot-Bonnemains, Yannick, Richard, Stéphane, Gimenez-Roqueplo, Anne-Paule, Cario, Holger, Gardie, Betty
Published in Blood (02.08.2018)
Published in Blood (02.08.2018)
Get full text
Journal Article
Web Resource
Leu351Arg in apoB, a new missense variant causing familial hypobetalipoproteinemia
Vanhoye, X., Janin, A., Caillaud, A., Rimbert, A., Venet, F., Gosset, M., Dijk, W., Marmontel, O., Nony, S., Chatelain, C., Lindenbaum, P., Cariou, B., Moulin, P., Di Filippo, M.
Published in Atherosclerosis (01.08.2022)
Published in Atherosclerosis (01.08.2022)
Get full text
Journal Article
P2864A novel mechanism of sinus node dysfunction: intergenic deletion between PITX2 and ANK2 disrupts chromatin structure in pacemaker cell differentiation
Murata, H, Lindenbaum, P, Le Scouarnec, S, Baron, E, Rajalu, A, Kyndt, F, Deleuze, J F, Le Marec, H, Probst, V, Shimizu, W, Redon, R, Schott, J J
Published in European heart journal (01.10.2019)
Published in European heart journal (01.10.2019)
Get full text
Journal Article
Molecular mechanism of a new cardiac syndrome associated with a regulatory element deletion of chromosome 4q25
Baudic, M, Murata, H, Le Scouarnec, S, Foucal, A, Lindenbaum, P, Ishikawa, T, Si-Tayeb, K, Gaborit, N, Makita, N, Makiyama, T, Shimizu, W, Vieyres, C, Probst, V, Schott, J.J, Barc, J
Published in European heart journal (01.11.2020)
Published in European heart journal (01.11.2020)
Get full text
Journal Article
Identification of a gain-of-function LIPC variant as a novel cause of familial combined hypocholesterolemia
Dijk, W., Di Filippo, M., Sander, K., Rimbert, A., Caillaud, A., Thédrez, A., Arnaud, L., Pronk, A., Garcon, D., Sotin, T., Lindenbaum, P., Ozcariz Garcia, E., De Barros, J.P. Pais, Duvillard, L., Si-Tayeb, K., Amigo, N., Le Questel, J.-Y., Rensen, P., Le May, C., Moulin, P., Cariou, B.
Published in Atherosclerosis (01.08.2022)
Published in Atherosclerosis (01.08.2022)
Get full text
Journal Article
Non-coding deletion induces 3D chromatin remodelling and PITX2 expression dysregulation associated with a syndromic cardiac disorder
Baudic, M., Murata, H., Bosada, F., Souto Melo, U., Aizawa, T., Guedon, A., Lindenbaum, P., Gourraud, J.-B., Makita, N., Mundlos, S., Christoffels, V.M., Makiyama, T., Probst, V., Schott, J.-J., Barc, J.
Published in Archives of Cardiovascular Diseases Supplements (01.01.2023)
Published in Archives of Cardiovascular Diseases Supplements (01.01.2023)
Get full text
Journal Article
Nomograms for morbidity and mortality after oncologic colon resection in the enhanced recovery era: results from a multicentric prospective national study
Sánchez-Guillén, Luis, Frasson, Matteo, Pellino, Gianluca, Fornés-Ferrer, Victoria, Ramos, José Luis, Flor-Lorente, Blas, García-Granero, Álvaro, Sierra, Isabel Blesa, Jiménez-Gómez, Luis Miguel, Moya-Martínez, Alejandro, García-Granero, Eduardo
Published in International journal of colorectal disease (01.12.2020)
Published in International journal of colorectal disease (01.12.2020)
Get full text
Journal Article
Identification by Whole Genome Sequencing of a New Gene Causing Hereditary Sinus Node and Atrioventricular Conduction Dysfunction
Le Guillou, X., Lindenbaum, P., Baron, E., Thollet, A., Kyndt, F., Le Marec, H., Probst, V., Schott, J.J., Gourraud, J.B., Barc, J.
Published in Archives of Cardiovascular Diseases Supplements (01.10.2020)
Published in Archives of Cardiovascular Diseases Supplements (01.10.2020)
Get full text
Journal Article
Relevance and diagnostic performance of genes involved in arrhythmogenic cardiomyopathy
Goudal, A., Karakachoff, M., Lindenbaum, P., Baron, E., Bonnaud, S., Kyndt, F., Bourcereau, E., Thollet, A., Redon, R., Bézieau, S., Schott, J.J., Probst, V., Barc, J.
Published in Archives of Cardiovascular Diseases Supplements (01.10.2020)
Published in Archives of Cardiovascular Diseases Supplements (01.10.2020)
Get full text
Journal Article
P336Exome sequencing of multiple affected individuals from an Irish family with Brugada Syndrome uncovers a novel locus for the disorder
Barc, J G, Marsman, RF, Le Scouarnec, S, Mizusawa, Y, Lindenbaum, P, Carter, N, Redon, R, Wilde, AAM, Mckeown, P, Bezzina, CR
Published in Cardiovascular research (15.07.2014)
Published in Cardiovascular research (15.07.2014)
Get full text
Journal Article
RoXaN, a Novel Cellular Protein Containing TPR, LD, and Zinc Finger Motifs, Forms a Ternary Complex with Eukaryotic Initiation Factor 4G and Rotavirus NSP3
VITOUR, Damien, LINDENBAUM, Pierre, VENDE, Patrice, BECKER, Michelle M, PONCET, Didier
Published in Journal of Virology (01.04.2004)
Published in Journal of Virology (01.04.2004)
Get full text
Journal Article
2014-A-33-CES - GAIN-OF-FUNCTION MUTATION IN THE VOLTAGE-GATED K+ CHANNEL BETA-2 SUBUNIT IS ASSOCIATED WITH BRUGADA SYNDROME
Portero, V., Le Scouarnec, S., Es-Salah-Lamoureux, Z., Burel, S., Gourraud, J., Bonnaud, S., Lindenbaum, P., Simonet, F., Violleau, J., Sandoval-Tortosa, J., Scott, C., Chatel, S., Loussouarn, G., O’Hara, T., Mabo, P., Dina, C., Le Marec, H., Schott, J., Probst, V., Baró, I., Marionneau, C., Charpentier, F., Redon, R.
Published in Heart rhythm (01.11.2014)
Published in Heart rhythm (01.11.2014)
Get full text
Journal Article