檢索結果 - Kury, Sebastien

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

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

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

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Clinical utility gene card for: Biotinidase deficiency—update 2015 由 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 由 Ebstein, Frédéric, Küry, Sébastien, Papendorf, Jonas Johannes, Krüger, Elke

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Clinical utility gene card for: acrodermatitis enteropathica – update 2015 由 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 由 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 由 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 由 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) 由 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 由 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 由 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 由 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 由 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 由 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 由 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 由 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 由 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 由 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 由 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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