Search Results - Küry, Sébastien

BAK1 gene variation and abdominal aortic aneurysms—results may have been prematurely overrated by Küry, Sébastien, Airaud, Fabrice, Piloquet, Philippe, Bézieau, Stéphane

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Clinical utility gene card for: acrodermatitis enteropathica by Küry, Sébastien, Kharfi, Monia, Schmitt, Sébastien, Bézieau, Stéphane

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Clinical utility gene card for: Biotinidase deficiency by Küry, Sébastien, Ramaekers, Vincent, Bézieau, Stéphane, Wolf, Barry

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Clinical utility gene card for: Biotinidase deficiency—update 2015 by Küry, Sébastien, Ramaekers, Vincent, Bézieau, Stéphane, Wolf, Barry

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Neurodevelopmental Disorders (NDD) Caused by Genomic Alterations of the Ubiquitin-Proteasome System (UPS): the Possible Contribution of Immune Dysregulation to Disease Pathogenesis by Ebstein, Frédéric, Küry, Sébastien, Papendorf, Jonas Johannes, Krüger, Elke

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Clinical utility gene card for: acrodermatitis enteropathica – update 2015 by Küry, Sébastien, Kharfi, Monia, Blouin, Eric, Schmitt, Sébastien, Bézieau, Stéphane

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A de novo germline MLH1 mutation in a Lynch syndrome patient with discordant immunohistochemical and molecular biology test results by Airaud, Fabrice, Küry, Sébastien, Valo, Isabelle, Maury, Ingrid, Bonneau, Dominique, Ingster, Olivier, Bezieau, Stéphane

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Three independent mutations in the TSC2 gene in a family with tuberous sclerosis by Le Caignec, Cédric, Kwiatkowski, David J, Küry, Sébastien, Hardouin, Jean-Benoit, Melki, Judith, David, Albert

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Reappraisal of the so-called ‘villous tumours’ of the rectosigmoid, based on histological, immunohistochemical and genotypic features by Droy-Dupré, Laure, Küry, Sébastien, Coron, Emmanuel, Bézieau, Stéphane, Laboisse, Christian L, Mosnier, Jean-François

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CUGC for hereditary fibrosing poikiloderma with tendon contractures, myopathy, and pulmonary fibrosis (POIKTMP) by Küry, Sébastien, Mercier, Sandra, Shaboodien, Gasnat, Besnard, Thomas, Barbarot, Sébastien, Khumalo, Nonhlanhla P, Mayosi, Bongani M, Bézieau, Stéphane

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Characterization of zinc amino acid complexes for zinc delivery in vitro using Caco-2 cells and enterocytes from hiPSC by Sauer, Ann Katrin, Pfaender, Stefanie, Hagmeyer, Simone, Tarana, Laura, Mattes, Ann-Kathrin, Briel, Franziska, Küry, Sébastien, Boeckers, Tobias M., Grabrucker, Andreas M.

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Evaluation of the colorectal cancer risk conferred by rare UNC5C alleles by Küry, Sébastien, Garrec, Céline, Airaud, Fabrice, Breheret, Flora, Guibert, Virginie, Frenard, Cécile, Jiao, Shuo, Bonneau, Dominique, Berthet, Pascaline, Bossard, Céline, Ingster, Olivier, Cauchin, Estelle, Bezieau, Stéphane

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Low-penetrance alleles predisposing to sporadic colorectal cancers: a French case-controlled genetic association study by Küry, Sébastien, Buecher, Bruno, Robiou-du-Pont, Sébastien, Scoul, Catherine, Colman, Hélène, Le Neel, Tanguy, Le Houérou, Claire, Faroux, Roger, Ollivry, Jean, Lafraise, Bernard, Chupin, Louis-Dominique, Sébille, Véronique, Bézieau, Stéphane

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The intellectual disability‐associated CAMK2G p.Arg292Pro mutation acts as a pathogenic gain‐of‐function by Proietti Onori, Martina, Koopal, Balwina, Everman, David B., Worthington, Jessica D., Jones, Julie R., Ploeg, Melissa A., Mientjes, Edwin, van Bon, Bregje W., Kleefstra, Tjitske, Schulman, Howard, Kushner, Steven A., Küry, Sébastien, Elgersma, Ype, van Woerden, Geeske M.

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A dominant vimentin variant causes a rare syndrome with premature aging by Cogné, Benjamin, Bouameur, Jamal-Eddine, Hayot, Gaëlle, Latypova, Xenia, Pattabiraman, Sundararaghavan, Caillaud, Amandine, Si-Tayeb, Karim, Besnard, Thomas, Küry, Sébastien, Chariau, Caroline, Gaignerie, Anne, David, Laurent, Bordure, Philippe, Kaganovich, Daniel, Bézieau, Stéphane, Golzio, Christelle, Magin, Thomas M., Isidor, Bertrand

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Two novel variants in CNTNAP1 in two siblings presenting with congenital hypotonia and hypomyelinating neuropathy by Nizon, Mathilde, Cogne, Benjamin, Vallat, Jean-Michel, Joubert, Madeleine, Liet, Jean-Michel, Simon, Laure, Vincent, Marie, Küry, Sébastien, Boisseau, Pierre, Schmitt, Sébastien, Mercier, Sandra, Bénéteau, Claire, Larrose, Catherine, Coste, Marianne, Latypova, Xénia, Péréon, Yann, Mussini, Jean-Marie, Bézieau, Stéphane, Isidor, Bertrand

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Identification of shared genetic variants between schizophrenia and lung cancer by Zuber, Verena, Jönsson, Erik G., Frei, Oleksandr, Witoelar, Aree, Thompson, Wesley K., Schork, Andrew J., Bettella, Francesco, Wang, Yunpeng, Djurovic, Srdjan, Smeland, Olav B., Dieset, Ingrid, Fanous, Ayman H., Desikan, Rahul S., Küry, Sébastien, Bézieau, Stéphane, Dale, Anders M., Mills, Ian G., Andreassen, Ole A.

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Clinical Presentation of a Complex Neurodevelopmental Disorder Caused by Mutations in ADNP by Van Dijck, Anke, Vulto-van Silfhout, Anneke T., Cappuyns, Elisa, van der Werf, Ilse M., Mancini, Grazia M., Tzschach, Andreas, Bernier, Raphael, Gozes, Illana, Eichler, Evan E., Romano, Corrado, Lindstrand, Anna, Nordgren, Ann, Consortium, ADNP, Kvarnung, Malin, Kleefstra, Tjitske, de Vries, Bert B.A., Küry, Sébastien, Rosenfeld, Jill A., Meuwissen, Marije E., Vandeweyer, Geert, Kooy, R. Frank

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Mutations in FAM111B Cause Hereditary Fibrosing Poikiloderma with Tendon Contracture, Myopathy, and Pulmonary Fibrosis by Mercier, Sandra, Küry, Sébastien, Shaboodien, Gasnat, Houniet, Darren T., Khumalo, Nonhlanhla P., Bou-Hanna, Chantal, Bodak, Nathalie, Cormier-Daire, Valérie, David, Albert, Faivre, Laurence, Figarella-Branger, Dominique, Gherardi, Romain K., Glen, Elise, Hamel, Antoine, Laboisse, Christian, Le Caignec, Cédric, Lindenbaum, Pierre, Magot, Armelle, Munnich, Arnold, Mussini, Jean-Marie, Pillay, Komala, Rahman, Thahira, Redon, Richard, Salort-Campana, Emmanuelle, Santibanez-Koref, Mauro, Thauvin, Christel, Barbarot, Sébastien, Keavney, Bernard, Bézieau, Stéphane, Mayosi, Bongani M.

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De Novo Truncating Variants in SON Cause Intellectual Disability, Congenital Malformations, and Failure to Thrive by Tokita, Mari J., Braxton, Alicia A., Shao, Yunru, Lewis, Andrea M., Vincent, Marie, Küry, Sébastien, Besnard, Thomas, Isidor, Bertrand, Latypova, Xénia, Bézieau, Stéphane, Liu, Pengfei, Motter, Connie S., Melver, Catherine Ward, Robin, Nathaniel H., Infante, Elena M., McGuire, Marianne, El-Gharbawy, Areeg, Littlejohn, Rebecca O., McLean, Scott D., Bi, Weimin, Bacino, Carlos A., Lalani, Seema R., Scott, Daryl A., Eng, Christine M., Yang, Yaping, Schaaf, Christian P., Walkiewicz, Magdalena A.

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