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

ανά Benarroch, Louise, Aubart, Mélodie, Gross, Marie-Sylvie, Arnaud, Pauline, Hanna, Nadine, Jondeau, Guillaume, Boileau, Catherine
Τόπος έκδοσης Genes (Basel) (2019)

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

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

Unsuspected somatic mosaicism for FBN1 gene contributes to Marfan syndrome

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

Quantifying the Genetic Basis of Marfan Syndrome Clinical Variability

ανά 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
Τόπος έκδοσης Genes (Basel) (2020)

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

ανά 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
Τόπος έκδοσης Mol Syndromol (2016)

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

ανά 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
Τόπος έκδοσης 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

ανά 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
Τόπος έκδοσης Genet Med (2021)

Systems pharmacology–based integration of human and mouse data for drug repurposing to treat thoracic aneurysms

ανά Hansen, Jens, Galatioto, Josephine, Caescu, Cristina I., Arnaud, Pauline, Calizo, Rhodora C., Spronck, Bart, Murtada, Sae-Il, Borkar, Roshan, Weinberg, Alan, Azeloglu, Evren U., Bintanel-Morcillo, Maria, Gallo, James M., Humphrey, Jay D., Jondeau, Guillaume, Boileau, Catherine, Ramirez, Francesco, Iyengar, Ravi
Τόπος έκδοσης JCI Insight (2019)

Development and Validation of a New Scoring System to Predict Survival in Patients With Myotonic Dystrophy Type 1

ανά 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
Τόπος έκδοσης JAMA Neurol (2018)

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

ανά 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
Τόπος έκδοσης Eur J Hum Genet (2018)

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

ανά 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.
Τόπος έκδοσης Genet Med (2018)

LOX Mutations Predispose to Thoracic Aortic Aneurysms and Dissections

ανά 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.
Τόπος έκδοσης Circ Res (2016)

Clinical Validity of Genes for Heritable Thoracic Aortic Aneurysm and Dissection

ανά 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
Τόπος έκδοσης J Am Coll Cardiol (2018)