Resultados de procura - Nadine Hanna

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  1. 1
    The clinical presentation of Marfan syndrome is modulated by expression of wild-type FBN1 allele

    The clinical presentation of Marfan syndrome is modulated by expression of wild-type FBN1 allele por Mélodie Aubart, Marie‐Sylvie Gross, Nadine Hanna, M. T. Zabot, M. Sznajder, Delphine Détaint, Laurent Gouya, Guillaume Jondeau, Cathérine Boileau, Chantal Stheneur

    Publicado 2015
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  2. 2
    Pathogenic FBN1 Genetic Variation and Aortic Dissection in Patients With Marfan Syndrome

    Pathogenic FBN1 Genetic Variation and Aortic Dissection in Patients With Marfan Syndrome por Olivier Milleron, Florence Arnoult, G Delorme, Delphine Détaint, Quentin Pellenc, Richard Raffoul, Maria Tchitchinadze, Maud Langeois, C Guien, Christophe Béroud, Jacques Ropers, Nadine Hanna, Pauline Arnaud, Laurent Gouya, Cathérine Boileau, Guillaume Jondeau

    Publicado 2020
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  3. 3
    Clinical relevance of genotype–phenotype correlations beyond vascular events in a cohort study of 1500 Marfan syndrome patients with FBN1 pathogenic variants

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

    Publicado 2021
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  4. 4
    SPRED1 germline mutations caused a neurofibromatosis type 1 overlapping phenotype

    SPRED1 germline mutations caused a neurofibromatosis type 1 overlapping phenotype por Éric Pasmant, Audrey Sabbagh, Nadine Hanna, Julien Masliah‐Planchon, Emmitt R. Jolly, P. Goussard, P Ballerini, François Cartault, S. Barbarot, Judith Landman‐Parker, Nadem Soufir, Béatrice Parfait, Michel Vidaud, P. Wolkenstein, Dominique Vidaud, R N F France

    Publicado 2009
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  5. 5
    Cardio-facio-cutaneous and Noonan syndromes due to mutations in the RAS/MAPK signalling pathway: genotype phenotype relationships and overlap with Costello syndrome

    Cardio-facio-cutaneous and Noonan syndromes due to mutations in the RAS/MAPK signalling pathway: genotype phenotype relationships and overlap with Costello syndrome por Caroline Nava, Nadine Hanna, Caroline Michot, Sérgio L. Pereira, Nathalie Pouvreau, Tetsuya Niihori, Yasuhiro Aoki, Yoichi Matsubara, Benoı̂t Arveiler, Didier Lacombe, Éric Pasmant, B. Parfait, Clarisse Baumann, Delphine Héron, S. Sigaudy, Annick Toutain, Marlène Rio, Alice Goldenberg, Bruno Leheup, Alain Verloès, Hélène Cavé

    Publicado 2007
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  6. 6
    Association of modifiers and other genetic factors explain Marfan syndrome clinical variability

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

    Publicado 2018
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  7. 7
    MYLK pathogenic variants aortic disease presentation, pregnancy risk, and characterization of pathogenic missense variants

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

    Publicado 2018
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  8. 8
    Genetic diversity and pathogenic variants as possible predictors of severity in a French sample of nonsyndromic heritable thoracic aortic aneurysms and dissections (nshTAAD)

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

    Publicado 2019
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  9. 9
    Early-Onset Osteoarthritis, Charcot-Marie-Tooth Like Neuropathy, Autoimmune Features, Multiple Arterial Aneurysms and Dissections: An Unrecognized and Life Threatening Condition

    Early-Onset Osteoarthritis, Charcot-Marie-Tooth Like Neuropathy, Autoimmune Features, Multiple Arterial Aneurysms and Dissections: An Unrecognized and Life Threatening Condition por Mélodie Aubart, Delphine Gobert, F. Aubart-Cohen, Delphine Détaint, Nadine Hanna, d’Indya Hyacintha, Lequintrec Janine-Sophie, P Renard, Anne-Marie Vigneron, Philippe Dieudé, Jean‐Pierre Laissy, Pierre Koch, Christine Muti, J. Roume, Véronica Cusin, Bernard Grandchamp, Laurent Gouya, Eric Leguern, T. Papo, Cathérine Boileau, Guillaume Jondeau

    Publicado 2014
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  10. 10
    MFAP5 Loss-of-Function Mutations Underscore the Involvement of Matrix Alteration in the Pathogenesis of Familial Thoracic Aortic Aneurysms and Dissections

    MFAP5 Loss-of-Function Mutations Underscore the Involvement of Matrix Alteration in the Pathogenesis of Familial Thoracic Aortic Aneurysms and Dissections por Mathieu Barbier, Marie Sylvie Gross, Mélodie Aubart, Nadine Hanna, Ketty Kessler, Dong Guo, Laurent Tosolini, Benoît Ho‐Tin‐Noé, Ellen S. Regalado, Mathilde Varret, Marianne Abifadel, Olivier Milleron, Sylvie Odent, Sophie Dupuis‐Girod, Laurence Faivre, Thomas Édouard, Yves Dulac, Tiffany Busa, Laurent Gouya, Dianna M. Milewicz, Guillaume Jondeau, Cathérine Boileau

    Publicado 2014
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  11. 11
    Clinical Validity of Genes for Heritable Thoracic Aortic Aneurysm and Dissection

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

    Publicado 2018
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  12. 12
    Analysis of transcript-deleterious variants in Mendelian disorders: implications for RNA-based diagnostics

    Analysis of transcript-deleterious variants in Mendelian disorders: implications for RNA-based diagnostics por Sateesh Maddirevula, Hiroyuki Kuwahara, Nour Ewida, Hanan E. Shamseldin, Nisha Patel, Fatema Alzahrani, Tarfa Al‐Sheddi, Eman Alobeid, Mona Alenazi, Hessa S. Alsaif, Maha Alqahtani, Maha AlAli, Hatoon Al Ali, Rana Helaby, Niema Ibrahim, Firdous Abdulwahab, Mais Hashem, Nadine Hanna, Dorota Monies, Nada Derar, Afaf Alsagheir, Amal Alhashem, Badr Alsaleem, Hamoud Alhebbi, Sami Wali, Ramzan Umarov, Xin Gao, Fowzan S. Alkuraya

    Publicado 2020
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  13. 13
    Differences in Arterial Events in Vascular Ehlers-Danlos, Loeys-Dietz, and Marfan Syndrome

    Differences in Arterial Events in Vascular Ehlers-Danlos, Loeys-Dietz, and Marfan Syndrome por Ernesto Calderón Martinez, Walter V. Velasco, Dongchuan Guo, Ellen M. Hostetler, Xun Zhang, Sara B. Stephens, Sherene Shalhub, Julie De Backer, Maral Ouzounian, Scott A. LeMaire, Olivier Milleron, Nadine Hanna, Pauline Arnaud, Maria Tchitchinadze, Siddharth K. Prakash, Mark E. Lindsay, Julien Marcadier, Richmond Jeremy, Shaine A. Morris, Anji T. Yetman, Cathérine Boileau, Alan C. Braverman, Guillaume Jondeau, Dianna M. Milewicz

    Publicado 2025
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  14. 14
    TGFB2 mutations cause familial thoracic aortic aneurysms and dissections associated with mild systemic features of Marfan syndrome

    TGFB2 mutations cause familial thoracic aortic aneurysms and dissections associated with mild systemic features of Marfan syndrome por Cathérine Boileau, Dong Guo, Nadine Hanna, Ellen S. Regalado, Delphine Détaint, Limin Gong, Mathilde Varret, Siddharth K. Prakash, Alexander Li, Hyacintha d’Indy, Alan C. Braverman, Bernard Grandchamp, Callie Kwartler, Laurent Gouya, Regie Lyn P. Santos‐Cortez, Marianne Abifadel, Suzanne M. Leal, Christine Muti, Jay Shendure, Marie Sylvie Gross, Mark J. Rieder, Alec Vahanian, Deborah A. Nickerson, Jean Baptiste Michel, Guillaume Jondeau, Dianna M. Milewicz

    Publicado 2012
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  15. 15
    The new Ghent criteria for Marfan syndrome: what do they change?

    The new Ghent criteria for Marfan syndrome: what do they change? por Laurence Faivre, Gwenaëlle Collod‐Béroud, Lesley C. Adès, Eloisa Arbustini, Anne H. Child, Bert Callewaert, Bart Loeys, Christine Binquet, Élodie Gautier, Karin Mayer, Mine Arslan‐Kirchner, Maurizia Grasso, Christophe Béroud, Dalil Hamroun, Claire Bonithon‐Kopp, H Plauchu, Peter N. Robinson, Julie De Backer, Paul Coucke, Uta Francke, O. Bouchot, J. E. Wolf, Chantal Stheneur, Nadine Hanna, Delphine Détaint, Anne De Paepe, Cathérine Boileau, Guillaume Jondeau

    Publicado 2011
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