Reference Expression Profile of Three FBN1 Transcript Isoforms and Their Association with Clinical Variability in Marfan Syndrome

por Benarroch, Louise, Aubart, Mélodie, Gross, Marie-Sylvie, Arnaud, Pauline, Hanna, Nadine, Jondeau, Guillaume, Boileau, Catherine
Publicado en Genes (Basel) (2019)

Marfan Syndrome Variability: Investigation of the Roles of Sarcolipin and Calcium as Potential Transregulator of FBN1 Expression

por Benarroch, Louise, Aubart, Mélodie, Gross, Marie-Sylvie, Jacob, Marie-Paule, Arnaud, Pauline, Hanna, Nadine, Jondeau, Guillaume, Boileau, Catherine
Publicado en Genes (Basel) (2018)

Unsuspected somatic mosaicism for FBN1 gene contributes to Marfan syndrome

por Arnaud, Pauline, Morel, Hélène, Milleron, Olivier, Gouya, Laurent, Francannet, Christine, Da Costa, Antoine, Le Goff, Carine, Jondeau, Guillaume, Boileau, Catherine, Hanna, Nadine
Publicado en Genet Med (2021)

Quantifying the Genetic Basis of Marfan Syndrome Clinical Variability

por 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
Publicado en Genes (Basel) (2020)

Neonatal Marfan Syndrome: Report of a Case with an Inherited Splicing Mutation outside the Neonatal Domain

por Le Gloan, Laurianne, Hauet, Quentin, David, Albert, Hanna, Nadine, Arfeuille, Chloé, Arnaud, Pauline, Boileau, Catherine, Romefort, Bénédicte, Benbrik, Nadir, Gournay, Véronique, Joram, Nicolas, Baron, Olivier, Isidor, Bertrand
Publicado en Mol Syndromol (2016)

Clinical and genetic data of 22 new patients with SMAD3 pathogenic variants and review of the literature

por 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
Publicado en Mol Genet Genomic Med (2020)

Clinical relevance of genotype–phenotype correlations beyond vascular events in a cohort study of 1500 Marfan syndrome patients with FBN1 pathogenic variants

por 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
Publicado en Genet Med (2021)

Cardio‐facio‐cutaneous and Noonan syndromes due to mutations in the RAS/MAPK signalling pathway: genotype–phenotype relationships and overlap with Costello syndrome

por Nava, Caroline, Hanna, Nadine, Michot, Caroline, Pereira, Sabrina, Pouvreau, Nathalie, Niihori, Tetsuya, Aoki, Yoko, Matsubara, Yoichi, Arveiler, Benoit, Lacombe, Didier, Pasmant, Eric, Parfait, Béatrice, Baumann, Clarisse, Héron, Delphine, Sigaudy, Sabine, Toutain, Annick, Rio, Marlène, Goldenberg, Alice, Leheup, Bruno, Verloes, Alain, Cavé, Hélène
Publicado 2007

Association of modifiers and other genetic factors explain Marfan syndrome clinical variability

por 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
Publicado en Eur J Hum Genet (2018)

Early-Onset Osteoarthritis, Charcot-Marie-Tooth Like Neuropathy, Autoimmune Features, Multiple Arterial Aneurysms and Dissections: An Unrecognized and Life Threatening Condition

por Aubart, Mélodie, Gobert, Delphine, Aubart-Cohen, Fleur, Detaint, Delphine, Hanna, Nadine, d’Indya, Hyacintha, Lequintrec, Janine-Sophie, Renard, Philippe, Vigneron, Anne-Marie, Dieudé, Philippe, Laissy, Jean-Pierre, Koch, Pierre, Muti, Christine, Roume, Joelle, Cusin, Veronica, Grandchamp, Bernard, Gouya, Laurent, LeGuern, Eric, Papo, Thomas, Boileau, Catherine, Jondeau, Guillaume
Publicado 2014

MYLK Mutations: Aortic Disease Presentation, Pregnancy Risk, and Characterization of Pathogenic Missense Variants

por 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.
Publicado en Genet Med (2018)

MFAP5 Loss-of-Function Mutations Underscore the Involvement of Matrix Alteration in the Pathogenesis of Familial Thoracic Aortic Aneurysms and Dissections

por Barbier, Mathieu, Gross, Marie-Sylvie, Aubart, Mélodie, Hanna, Nadine, Kessler, Ketty, Guo, Dong-Chuan, Tosolini, Laurent, Ho-Tin-Noe, Benoit, Regalado, Ellen, Varret, Mathilde, Abifadel, Marianne, Milleron, Olivier, Odent, Sylvie, Dupuis-Girod, Sophie, Faivre, Laurence, Edouard, Thomas, Dulac, Yves, Busa, Tiffany, Gouya, Laurent, Milewicz, Dianna M., Jondeau, Guillaume, Boileau, Catherine
Publicado en Am J Hum Genet (2014)

Clinical Validity of Genes for Heritable Thoracic Aortic Aneurysm and Dissection

por 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., Backer, Julie De
Publicado en J Am Coll Cardiol (2018)

Analysis of transcript-deleterious variants in Mendelian disorders: implications for RNA-based diagnostics

por Maddirevula, Sateesh, Kuwahara, Hiroyuki, Ewida, Nour, Shamseldin, Hanan E., Patel, Nisha, Alzahrani, Fatema, AlSheddi, Tarfa, AlObeid, Eman, Alenazi, Mona, Alsaif, Hessa S., Alqahtani, Maha, AlAli, Maha, Al Ali, Hatoon, Helaby, Rana, Ibrahim, Niema, Abdulwahab, Firdous, Hashem, Mais, Hanna, Nadine, Monies, Dorota, Derar, Nada, Alsagheir, Afaf, Alhashem, Amal, Alsaleem, Badr, Alhebbi, Hamoud, Wali, Sami, Umarov, Ramzan, Gao, Xin, Alkuraya, Fowzan S.
Publicado en Genome Biol (2020)

TGFB2 loss of function mutations cause familial thoracic aortic aneurysms and acute aortic dissections associated with mild systemic features of the Marfan syndrome

por Boileau, Catherine, Guo, Dong-Chuan, Hanna, Nadine, Regalado, Ellen S., Detaint, Delphine, Gong, Limin, Varret, Mathilde, Prakash, Siddharth, Li, Alexander H., d’Indy, Hyacintha, Braverman, Alan C., Grandchamp, Bernard, Kwartler, Callie S., Gouya, Laurent, Santos-Cortez, Regie Lyn P., Abifadel, Marianne, Leal, Suzanne M., Muti, Christine, Shendure, Jay, Gross, Marie-Sylvie, Rieder, Mark J., Vahanian, Alec, Nickerson, Deborah A., Michel, Jean Baptiste, Jondeau, Guillaume, Milewicz, Dianna M.
Publicado 2012