Unexpected frequency of Upshaw-Schulman syndrome in pregnancy-onset thrombotic thrombocytopenic purpura von Moatti-Cohen, Marie, Garrec, Céline, Wolf, Martine, Boisseau, Pierre, Galicier, Lionel, Azoulay, Elie, Stepanian, Alain, Delmas, Yahsou, Rondeau, Eric, Bezieau, Stéphane, Coppo, Paul, Veyradier, Agnès

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Truncating mutations in the last exon of NOTCH2 cause a rare skeletal disorder with osteoporosis von Isidor, Bertrand, Lindenbaum, Pierre, Pichon, Olivier, Bézieau, Stéphane, Dina, Christian, Jacquemont, Sébastien, Martin-Coignard, Dominique, Thauvin-Robinet, Christel, Le Merrer, Martine, Mandel, Jean-Louis, David, Albert, Faivre, Laurence, Cormier-Daire, Valérie, Redon, Richard, Le Caignec, Cédric

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High HFE mutation incidence in idiopathic erythrocytosis von Burlet, Bénédicte, Bourgeois, Valentin, Buriller, Céline, Aral, Bernard, Airaud, Fabrice, Garrec, Céline, Bézieau, Stéphane, Gardie, Betty, Girodon, François

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GestaltMatcher facilitates rare disease matching using facial phenotype descriptors von Hsieh, Tzung-Chien, Bar-Haim, Aviram, Moosa, Shahida, Ehmke, Nadja, Gripp, Karen W., Pantel, Jean Tori, Danyel, Magdalena, Mensah, Martin Atta, Horn, Denise, Rosnev, Stanislav, Fleischer, Nicole, Bonini, Guilherme, Hustinx, Alexander, Schmid, Alexander, Knaus, Alexej, Javanmardi, Behnam, Klinkhammer, Hannah, Lesmann, Hellen, Sivalingam, Sugirthan, Kamphans, Tom, Meiswinkel, Wolfgang, Ebstein, Frédéric, Krüger, Elke, Küry, Sébastien, Bézieau, Stéphane, Schmidt, Axel, Peters, Sophia, Engels, Hartmut, Mangold, Elisabeth, Kreiß, Martina, Cremer, Kirsten, Perne, Claudia, Betz, Regina C., Bender, Tim, Grundmann-Hauser, Kathrin, Haack, Tobias B., Wagner, Matias, Brunet, Theresa, Bentzen, Heidi Beate, Averdunk, Luisa, Coetzer, Kimberly Christine, Lyon, Gholson J., Spielmann, Malte, Schaaf, Christian P., Mundlos, Stefan, Nöthen, Markus M., Krawitz, Peter M.

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Mapping of colorectal carcinoma diseases with activation of Wnt/beta-catenin signalling pathway using hierarchical clustering approach von Mosnier, Jean-François, Airaud, Fabrice, Métairie, Sylvie, Volteau, Christelle, Bezieau, Stéphane, Denis, Marc

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Nationwide French Study of RET Variants Detected from 2003 to 2013 Suggests a Possible Influence of Polymorphisms as Modifiers von Lebeault, Maylis, Pinson, Stéphane, Guillaud-Bataille, Marine, Gimenez-Roqueplo, Anne-Paule, Carrie, Alain, Barbu, Véronique, Pigny, Pascal, Bezieau, Stéphane, Rey, Jean-Marc, Delvincourt, Chantal, Giraud, Sophie, Veyrat-Durebex, Charlotte, Saulnier, Patrick, Bouzamondo, Nathalie, Chabbert, Marie, Blin, Julien, Mohamed, Amira, Romanet, Pauline, Borson-Chazot, Francoise, Rohmer, Vincent, Barlier, Anne, Mirebeau-Prunier, Delphine

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Purplish granules as a cytological signature of cortical developmental disorders caused by pathogenic variants in WDR81 von Le Calvez, Baptiste, Besnard, Thomas, Cogne, Benjamin, Bézieau, Stéphane, Béné, Marie C., Beneteau, Claire, Eveillard, Marion

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A new mutation of ANO6 in two familial cases of Scott syndrome von Boisseau, Pierre, Bene, Marie C., Besnard, Thomas, Pachchek, Sinthuja, Giraud, Mathilde, Talarmain, Patricia, Robillard, Nelly, Gourlaouen, Marie A., Bezieau, Stéphane, Fouassier, Marc

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Identification of SLC39A4 , a gene involved in acrodermatitis enteropathica von Küry, Sébastien, Giraudet, Stéphanie, Bézieau, Stéphane, Dréno, Brigitte, Kharfi, Monia, Kamoun, Ridha, Moisan, Jean-Paul

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De novo loss-of-function KCNMA1 variants are associated with a new multiple malformation syndrome and a broad spectrum of developmental and neurological phenotypes von Liang, Lina, Li, Xia, Moutton, Sébastien, Schrier Vergano, Samantha A, Cogné, Benjamin, Saint-Martin, Anne, Hurst, Anna C E, Hu, Yushuang, Bodamer, Olaf, Thevenon, Julien, Hung, Christina Y, Isidor, Bertrand, Gerard, Bénédicte, Rega, Adelaide, Nambot, Sophie, Lehalle, Daphné, Duffourd, Yannis, Thauvin-Robinet, Christel, Faivre, Laurence, Bézieau, Stéphane, Dure, Leon S, Helbling, Daniel C, Bick, David, Xu, Chengqi, Chen, Qiuyun, Mancini, Grazia M S, Vitobello, Antonio, Wang, Qing Kenneth

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Burden of rare variants in arrhythmogenic cardiomyopathy with right dominant form‐associated genes provides new insights for molecular diagnosis and clinical management von Goudal, Adeline, Karakachoff, Matilde, Lindenbaum, Pierre, Baron, Estelle, Bonnaud, Stéphanie, Kyndt, Florence, Arnaud, Marine, Minois, Damien, Bourcereau, Emmanuelle, Thollet, Aurélie, Deleuze, Jean‐François, Genin, Emmanuelle, Wiart, François, Pasquié, Jean‐Luc, Galand, Vincent, Sacher, Frédéric, Dina, Christian, Redon, Richard, Bezieau, Stéphane, Schott, Jean‐Jacques, Probst, Vincent, Barc, Julien

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A de novo pathogenic variant in the MSH6 gene in a 52 years-old woman von Pierre-Noël, Elise, Airaud, Fabrice, Cauchin, Estelle, Garrec, Céline, Ricordeau, Ingrid, Michon, Clémence, Kerdraon, Olivier, Bezieau, Stéphane, Abadie, Caroline

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Cost of cancer diagnosis using next-generation sequencing targeted gene panels in routine practice: a nationwide French study von Marino, Patricia, Touzani, Rajae, Perrier, Lionel, Rouleau, Etienne, Kossi, Dede Sika, Zhaomin, Zou, Charrier, Nathanaël, Goardon, Nicolas, Preudhomme, Claude, Durand-Zaleski, Isabelle, Borget, Isabelle, Baffert, Sandrine

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A dominant vimentin variant causes a rare syndrome with premature aging von 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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Testing the burden of rare variation in arrhythmia-susceptibility genes provides new insights into molecular diagnosis for Brugada syndrome von Le Scouarnec, Solena, Karakachoff, Matilde, Gourraud, Jean-Baptiste, Lindenbaum, Pierre, Bonnaud, Stéphanie, Portero, Vincent, Duboscq-Bidot, Laëtitia, Daumy, Xavier, Simonet, Floriane, Teusan, Raluca, Baron, Estelle, Violleau, Jade, Persyn, Elodie, Bellanger, Lise, Barc, Julien, Chatel, Stéphanie, Martins, Raphaël, Mabo, Philippe, Sacher, Frédéric, Haïssaguerre, Michel, Kyndt, Florence, Schmitt, Sébastien, Bézieau, Stéphane, Le Marec, Hervé, Dina, Christian, Schott, Jean-Jacques, Probst, Vincent, Redon, Richard

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Acute cytotoxicity of MIRA-1/NSC19630, a mutant p53-reactivating small molecule, against human normal and cancer cells via a caspase-9-dependent apoptosis von Bou-Hanna, Chantal, Jarry, Anne, Lode, Laurence, Schmitz, Ingo, Schulze-Osthoff, Klaus, Kury, Sébastien, Bezieau, Stéphane, Mosnier, Jean-François, Laboisse, Christian L

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Bi-allelic variants in DOHH, catalyzing the last step of hypusine biosynthesis, are associated with a neurodevelopmental disorder von Ziegler, Alban, Steindl, Katharina, Hanner, Ashleigh S., Kar, Rajesh Kumar, Prouteau, Clément, Boland, Anne, Deleuze, Jean Francois, Coubes, Christine, Bézieau, Stéphane, Küry, Sébastien, Maystadt, Isabelle, Le Mao, Morgane, Lenaers, Guy, Navet, Benjamin, Faivre, Laurence, Tran Mau-Them, Frédéric, Zanoni, Paolo, Chung, Wendy K., Rauch, Anita, Bonneau, Dominique, Park, Myung Hee

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Understanding neurodevelopmental proteasomopathies as new rare disease entities: A review of current concepts, molecular biomarkers, and perspectives von Cuinat, Silvestre, Bézieau, Stéphane, Deb, Wallid, Mercier, Sandra, Vignard, Virginie, Isidor, Bertrand, Küry, Sébastien, Ebstein, Frédéric

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Novel KCNB1 mutation associated with non-syndromic intellectual disability von Latypova, Xénia, Matsumoto, Naomichi, Vinceslas-Muller, Cécile, Bézieau, Stéphane, Isidor, Bertrand, Miyake, Noriko

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Circulating white blood cell traits and colorectal cancer risk: A Mendelian randomisation study von Constantinescu, Andrei-Emil, Bull, Caroline J, Jones, Nicholas, Mitchell, Ruth, Burrows, Kimberley, Dimou, Niki, Bézieau, Stéphane, Brenner, Hermann, Buchanan, Daniel D, D'Amato, Mauro, Jenkins, Mark A, Moreno, Victor, Pai, Rish K, Um, Caroline Y, White, Emily, Murphy, Neil, Gunter, Marc, Timpson, Nicholas J, Huyghe, Jeroen R, Vincent, Emma E

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