Clinical Validity of Genes for Heritable Thoracic Aortic Aneurysm and Dissection von Renard, Marjolijn, Francis, Catherine, Ghosh, Rajarshi, Scott, Alan F., Witmer, P. Dane, Adès, Lesley C., Andelfinger, Gregor U., Arnaud, Pauline, Boileau, Catherine, Callewaert, Bert L., Guo, Dongchuan, Hanna, Nadine, Lindsay, Mark E., Morisaki, Hiroko, Morisaki, Takayuki, Pachter, Nicholas, Robert, Leema, Van Laer, Lut, Dietz, Harry C., Loeys, Bart L., Milewicz, Dianna M., De Backer, Julie

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Association of modifiers and other genetic factors explain Marfan syndrome clinical variability von Aubart, Melodie, Gazal, Steven, Arnaud, Pauline, Benarroch, Louise, Gross, Marie-Sylvie, Buratti, Julien, Boland, Anne, Meyer, Vincent, Zouali, Habib, Hanna, Nadine, Milleron, Olivier, Stheneur, Chantal, Bourgeron, Thomas, Desguerre, Isabelle, Jacob, Marie-Paule, Gouya, Laurent, Génin, Emmanuelle, Deleuze, Jean-François, Jondeau, Guillaume, Boileau, Catherine

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Cooperative Mechanism of ADAMTS/ ADAMTSL and Fibrillin-1 in the Marfan Syndrome and Acromelic Dysplasias von Arnaud, Pauline, Mougin, Zakaria, Boileau, Catherine, Le Goff, Carine

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A new mutational hotspot in the SKI gene in the context of MFS/TAA molecular diagnosis von Arnaud, Pauline, Racine, Caroline, Hanna, Nadine, Thevenon, Julien, Alessandri, Jean-Luc, Bonneau, Dominique, Clayton-Smith, Jill, Coubes, Christine, Delobel, Bruno, Dupuis-Girod, Sophie, Gouya, Laurent, Odent, Sylvie, Carmignac, Virginie, Thauvin-Robinet, Christel, Le Goff, Carine, Jondeau, Guillaume, Boileau, Catherine, Faivre, Laurence

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Quantifying the Genetic Basis of Marfan Syndrome Clinical Variability von Grange, Thomas, Aubart, Mélodie, Langeois, Maud, Benarroch, Louise, Arnaud, Pauline, Milleron, Olivier, Eliahou, Ludivine, Gross, Marie-Sylvie, Hanna, Nadine, Boileau, Catherine, Gouya, Laurent, Jondeau, Guillaume

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Clinical and genetic data of 22 new patients with SMAD3 pathogenic variants and review of the literature von Chesneau, Bertrand, Edouard, Thomas, Dulac, Yves, Colineaux, Hélène, Langeois, Maud, Hanna, Nadine, Boileau, Catherine, Arnaud, Pauline, Chassaing, Nicolas, Julia, Sophie, Jondeau, Guillaume, Plancke, Aurélie, Khau Van Kien, Philippe, Plaisancié, Julie

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Association Between Mutation Size and Cardiac Involvement in Myotonic Dystrophy Type 1 von Chong-Nguyen, Caroline, Karim, Wahbi, Algalarrondo Vincent, Bécane, Henri Marc, Radvanyi-Hoffman, Hélène, Arnaud, Pauline, Furling Denis, Lazarus, Arnaud, Bassez Guillaume, Béhin Anthony, Fayssoil Abdallah, Laforêt Pascal, Stojkovic, Tanya, Eymard Bruno, Duboc Denis

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Clinical relevance of genotype–phenotype correlations beyond vascular events in a cohort study of 1500 Marfan syndrome patients with FBN1 pathogenic variants von Arnaud, Pauline, Milleron, Olivier, Hanna, Nadine, Ropers, Jacques, Ould Ouali, Nadia, Affoune, Amel, Langeois, Maud, Eliahou, Ludivine, Arnoult, Florence, Renard, Philippe, Michelon-Jouneaux, Marlène, Cotillon, Marie, Gouya, Laurent, Boileau, Catherine, Jondeau, Guillaume

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Pathogenic FBN1 Genetic Variation and Aortic Dissection in Patients With Marfan Syndrome von Milleron, Olivier, Arnoult, Florence, Delorme, Gabriel, Detaint, Delphine, Pellenc, Quentin, Raffoul, Richard, Tchitchinadze, Maria, Langeois, Maud, Guien, Celine, Beroud, Christophe, Ropers, Jacques, Hanna, Nadine, Arnaud, Pauline, Gouya, Laurent, Boileau, Catherine, Jondeau, Guillaume

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LOX Mutations Predispose to Thoracic Aortic Aneurysms and Dissections von Guo, Dong-chuan, Regalado, Ellen S, Gong, Limin, Duan, Xueyan, Santos-Cortez, Regie Lyn P, Arnaud, Pauline, Ren, Zhao, Cai, Bo, Hostetler, Ellen M, Moran, Rocio, Liang, David, Estrera, Anthony, Safi, Hazim J, Leal, Suzanne M, Bamshad, Michael J, Shendure, Jay, Nickerson, Deborah A, Jondeau, Guillaume, Boileau, Catherine, Milewicz, Dianna M

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Early-Onset Aortic Dissection: Characterization of a New Pathogenic Splicing Variation in the MYH11 Gene with Several In-Frame Abnormal Transcripts von Arnaud, Pauline, Cadenet, Margaux, Mougin, Zakaria, Le Goff, Carine, Perbet, Sébastien, Francois, Mathilde, Dupuis-Girod, Sophie, Boileau, Catherine, Hanna, Nadine

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The natural history of a family with aortic dissection associated with a novel ACTA2 variant von Delsart, Pascal, Vanlerberghe, Clémence, Juthier, Francis, Sobocinski, Jonathan, Domanski, Olivia, Longere, Benjamin, Hanna, Nadine, Arnaud, Pauline, Marsili, Luisa

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Unsuspected somatic mosaicism for FBN1 gene contributes to Marfan syndrome von Arnaud, Pauline, Morel, Hélène, Milleron, Olivier, Gouya, Laurent, Francannet, Christine, Da Costa, Antoine, Le Goff, Carine, Jondeau, Guillaume, Boileau, Catherine, Hanna, Nadine

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Genetic diversity and pathogenic variants as possible predictors of severity in a French sample of nonsyndromic heritable thoracic aortic aneurysms and dissections (nshTAAD) von Arnaud, Pauline, Hanna, Nadine, Benarroch, Louise, Aubart, Mélodie, Bal, Laurence, Bouvagnet, Patrice, Busa, Tiffany, Dulac, Yves, Dupuis-Girod, Sophie, Edouard, Thomas, Faivre, Laurence, Gouya, Laurent, Lacombe, Didier, Langeois, Maud, Leheup, Bruno, Milleron, Olivier, Naudion, Sophie, Odent, Sylvie, Tchitchinadze, Maria, Ropers, Jacques, Jondeau, Guillaume, Boileau, Catherine

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Development and Validation of a New Scoring System to Predict Survival in Patients With Myotonic Dystrophy Type 1 von Wahbi, Karim, Porcher, Raphaël, Laforêt, Pascal, Fayssoil, Abdallah, Bécane, Henri Marc, Lazarus, Arnaud, Sochala, Maximilien, Stojkovic, Tanya, Béhin, Anthony, Leonard-Louis, Sarah, Arnaud, Pauline, Furling, Denis, Probst, Vincent, Babuty, Dominique, Pellieux, Sybille, Clementy, Nicolas, Bassez, Guillaume, Péréon, Yann, Eymard, Bruno, Duboc, Denis

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Inhibition of homeodomain-interacting protein kinase 2 (HIPK2) alleviates thoracic aortic disease in mice with progressively severe Marfan syndrome von Caescu, Cristina I., Hansen, Jens, Crockett, Brittany, Xiao, Wenzhen, Arnaud, Pauline, Spronck, Bart, Weinberg, Alan, Hashimoto, Takeshi, Murtada, Sae-Il, Borkar, Roshan, Gallo, James M., Jondeau, Guillaume, Boileau, Catherine, Humphrey, Jay D., He, John Cijiang, Iyengar, Ravi, Ramirez, Francesco

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Inhibition of HIPK2 Alleviates Thoracic Aortic Disease in Mice With Progressively Severe Marfan Syndrome von Caescu, Cristina I., Hansen, Jens, Crockett, Brittany, Xiao, Wenzhen, Arnaud, Pauline, Spronck, Bart, Weinberg, Alan, Hashimoto, Takeshi, Murtada, Sae-Il, Borkar, Roshan, Gallo, James M., Jondeau, Guillaume, Boileau, Catherine, Humphrey, Jay D., He, John Cijiang, Iyengar, Ravi, Ramirez, Francesco

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A Giant Abdominal Aortic Aneurysm Revealing a Marfan Syndrome With a New FBN1 Mutation von Filippetti, Laura, Dufrost, Virginie, Busby-Venner, Hélène, Hanna, Nadine, Arnaud, Pauline, Settembre, Nicla, Mandry, Damien, Malikov, Sergueï, Wahl, Denis, Zuily, Stéphane

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Inhibition of HIPK2 Alleviates Thoracic Aortic Disease in Mice With Progressively Severe Marfan Syndrome von Caescu, Cristina I., Hansen, Jens, Crockett, Brittany, Xiao, Wenzhen, Arnaud, Pauline, Spronck, Bart, Weinberg, Alan, Hashimoto, Takeshi, Murtada, Sae-Il, Borkar, Roshan, Gallo, James M., Jondeau, Guillaume, Boileau, Catherine, Humphrey, Jay D., He, John Cijiang, Iyengar, Ravi, Ramirez, Francesco

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MYLK pathogenic variants aortic disease presentation, pregnancy risk, and characterization of pathogenic missense variants von Wallace, Stephanie E., Regalado, Ellen S., Gong, Limin, Janda, Alexandra L., Guo, Dong-chuan, Russo, Claudio F., Kulmacz, Richard J., Hanna, Nadine, Jondeau, Guillaume, Boileau, Catherine, Arnaud, Pauline, Lee, Kwanghyuk, Leal, Suzanne M., Hannuksela, Matias, Carlberg, Bo, Johnston, Tami, Antolik, Christian, Hostetler, Ellen M., Colombo, Roberto, Milewicz, Dianna M.

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