Search Results - "Lindenbaum, P."

GAIN-OF-FUNCTION MUTATION IN THE VOLTAGE-GATED K+ CHANNEL BETA-2 SUBUNIT IS ASSOCIATED WITH BRUGADA SYNDROME by 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

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Haplotypes in the gene encoding protein kinase c-beta (PRKCB1) on chromosome 16 are associated with autism by 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

“…Autism is a developmental disorder characterized by impairments in social interaction and communication associated with repetitive patterns of interest or…”
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Effectiveness of acoustic cameras as tools for assessing biogenic structures formed by Sabellaria in highly turbid environments by 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.

“…Accurately mapping the extent and status of biogenic reefs formed by polychaete worms of the genus Sabellaria is of conservation importance given their…”
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In vivo and in vitro phosphorylation of rotavirus NSP5 correlates with its localization in viroplasms by Poncet, D, Lindenbaum, P, L'Haridon, R, Cohen, J

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Identification of a new VHL exon and complex splicing alterations in familial erythrocytosis or von Hippel-Lindau disease by 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

“…Chuvash polycythemia is an autosomal recessive form of erythrocytosis associated with a homozygous p.Arg200Trp mutation in the von Hippel-Lindau (VHL) gene…”
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Syndromic cardiac disorder is associated with a non-coding deletion that induces a 3D chromatin remodeling and PITX2 expression dysregulation by 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

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Leu351Arg in apoB, a new missense variant causing familial hypobetalipoproteinemia by 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.

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P2864A novel mechanism of sinus node dysfunction: intergenic deletion between PITX2 and ANK2 disrupts chromatin structure in pacemaker cell differentiation by 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

“…Abstract Background Genetics of sinus node dysfunction (SND) remains poorly understood with few genes identified (HCN4, SCN5A, GJA5, KCNQ1, MYH6 and ANK2) and…”
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Molecular mechanism of a new cardiac syndrome associated with a regulatory element deletion of chromosome 4q25 by 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

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Identification of a gain-of-function LIPC variant as a novel cause of familial combined hypocholesterolemia by 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.

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Publishers’ Booklists in Late Seventeenth-Century London by Lindenbaum, Peter

“…In the middle of the seventeenth century London publishers began to include lists of other publications in books. Between 1646 and 1665 the number of…”
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Non-coding deletion induces 3D chromatin remodelling and PITX2 expression dysregulation associated with a syndromic cardiac disorder by 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.

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Nomograms for morbidity and mortality after oncologic colon resection in the enhanced recovery era: results from a multicentric prospective national study by 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

“…Purpose Predicting postoperative complications and mortality is important to plan the surgical strategy. Different scores have been proposed before to predict…”
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Relevance and diagnostic performance of genes involved in arrhythmogenic cardiomyopathy by 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.

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Identification by Whole Genome Sequencing of a New Gene Causing Hereditary Sinus Node and Atrioventricular Conduction Dysfunction by Le Guillou, X., Lindenbaum, P., Baron, E., Thollet, A., Kyndt, F., Le Marec, H., Probst, V., Schott, J.J., Gourraud, J.B., Barc, J.

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P336Exome sequencing of multiple affected individuals from an Irish family with Brugada Syndrome uncovers a novel locus for the disorder by Barc, J G, Marsman, RF, Le Scouarnec, S, Mizusawa, Y, Lindenbaum, P, Carter, N, Redon, R, Wilde, AAM, Mckeown, P, Bezzina, CR

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CloneIT: finding cloning strategies, in-frame deletions and frameshifts by Lindenbaum, P

“…The CloneIt program searches for sub-cloning strategies, in-frame deletions and frameshifts within a plasmid sequence. The program, written in ANSI-C language,…”
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RoXaN, a Novel Cellular Protein Containing TPR, LD, and Zinc Finger Motifs, Forms a Ternary Complex with Eukaryotic Initiation Factor 4G and Rotavirus NSP3 by VITOUR, Damien, LINDENBAUM, Pierre, VENDE, Patrice, BECKER, Michelle M, PONCET, Didier

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The Shattering of an Illusion: The Problem of Competition in Lesbian Relationships by Lindenbaum, Joyce P.

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Clonelt : finding cloning strategies, in-frame deletions and frameshifts by LINDENBAUM, P

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