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ArticlesPeer ReviewedFull Text
Genetic diversity and pathogenic variants as possible predictors of severity in a French sample of nonsyndromic heritable thoracic aortic aneurysms and dissections (nshTAAD)
Author / Creator: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
Publisher:New York: Elsevier Inc
Journal title:Genetics in medicine, 2019-09, Vol.21 (9), p.2015-2024
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Herpes simplex encephalitis in a patient with a distinctive form of inherited IFNAR1 deficiency
Author / Creator:Bastard, Paul ; Manry, Jeremy ; Chen, Jie ; Rosain, Jérémie ; Seeleuthner, Yoann ; AbuZaitun, Omar ; Lorenzo, Lazaro ; Khan, Taushif ; Hasek, Mary ; Hernandez, Nicholas ; Bigio, Benedetta ; Zhang, Peng ; Lévy, Romain ; Shrot, Shai ; Reino, Eduardo J Garcia ; Lee, Yoon-Seung ; Boucherit, Soraya ; Aubart, Mélodie ; Gijsbers, Rik ; Béziat, Vivien ; Li, Zhi ; Pellegrini, Sandra ; Rozenberg, Flore ; Marr, Nico ; Meyts, Isabelle ; Boisson, Bertrand ; Cobat, Aurélie ; Bustamante, Jacinta ; Zhang, Qian ; Jouangy, Emmanuelle ; Abel, Laurent ; Somech, Raz ; Casanova, Jean-Laurent ; Zhang, Shen-Ying
Publisher:United States: American Society for Clinical Investigation
Journal title:The Journal of clinical investigation, 2021-01, Vol.131 (1), p.1-18
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Neurological features related to influenza virus in the pediatric population: a 3-year monocentric retrospective study
Author / Creator:Goetz, Violette ; Yang, David-Dawei ; Abid, Hanene ; Roux, Charles-Joris ; Levy, Raphael ; Kossorotoff, Manoelle ; Desguerre, Isabelle ; Angoulvant, François ; Aubart, Mélodie
Publisher:Berlin/Heidelberg: Springer Berlin Heidelberg
Journal title:European journal of pediatrics, 2023-06, Vol.182 (6), p.2615-2624
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Teenager Febrile Dystextia
Author / Creator:Perrin de Brichambaut, Florian ; Dupuy, Gabrielle ; Sarda, Eugénie ; Boddaert, Nathalie ; Roux, Charles‐Joris ; Dabaj, Ivana ; Marret, Stéphane ; Aubart, Mélodie ; Desguerre, Isabelle
Publisher:England: John Wiley & Sons, Inc
Journal title:European journal of neurology, 2025-03, Vol.32 (3), p.e70059-n/a
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Ceroid lipofuscinosis type 2 disease: Effective presymptomatic therapy—Oldest case of a presymptomatic enzyme therapy
Author / Creator:Breuillard, Delphine ; Ouss, Lisa ; Le Normand, Marie Thérèse ; Denis, Timothée de Saint ; Barnerias, Christine ; Robert, Matthieu P. ; Eisermann, Monika ; Boddaert, Nathalie ; Caillaud, Catherine ; Bahi‐Buisson, Nadia ; Desguerre, Isabelle ; Aubart, Mélodie
Publisher:England: John Wiley & Sons, Inc
Journal title:European journal of neurology, 2024-09, Vol.31 (9), p.e16324-n/a
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Core-Shell Polymer-Based Nanoparticles Deliver miR-155-5p to Endothelial Cells
Author / Creator:Antunes, Joana C. ; Benarroch, Louise ; Moraes, Fernanda C. ; Juenet, Maya ; Gross, Marie-Sylvie ; Aubart, Mélodie ; Boileau, Catherine ; Caligiuri, Giuseppina ; Nicoletti, Antonino ; Ollivier, Véronique ; Chaubet, Frédéric ; Letourneur, Didier ; Chauvierre, Cédric
Publisher:United States: Elsevier Inc
Journal title:Molecular therapy. Nucleic acids, 2019-09, Vol.17, p.210-222
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Early-onset osteoarthritis, Charcot-Marie-Tooth like neuropathy, autoimmune features, multiple arterial aneurysms and dissections: an unrecognized and life threatening condition
Author / Creator: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
Publisher:United States: Public Library of Science
Journal title:PloS one, 2014-05, Vol.9 (5), p.e96387-e96387
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Quantifying the Genetic Basis of Marfan Syndrome Clinical Variability
Author / Creator: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
Publisher:Switzerland: MDPI
Journal title:Genes, 2020-05, Vol.11 (5), p.574
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Homozygous and compound heterozygous mutations in the FBN1 gene: unexpected findings in molecular diagnosis of Marfan syndrome
Author / Creator:Arnaud, Pauline ; Hanna, Nadine ; Aubart, Mélodie ; Leheup, Bruno ; Dupuis-Girod, Sophie ; Naudion, Sophie ; Lacombe, Didier ; Milleron, Olivier ; Odent, Sylvie ; Faivre, Laurence ; Bal, Laurence ; Edouard, Thomas ; Collod-Beroud, Gwenaëlle ; Langeois, Maud ; Spentchian, Myrtille ; Gouya, Laurent ; Jondeau, Guillaume ; Boileau, Catherine
Publisher:England: BMJ Publishing Group LTD
Journal title:Journal of medical genetics, 2017-02, Vol.54 (2), p.100-103
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Reference Expression Profile of Three FBN1 Transcript Isoforms and Their Association with Clinical Variability in Marfan Syndrome
Author / Creator:Benarroch, Louise ; Aubart, Mélodie ; Gross, Marie-Sylvie ; Arnaud, Pauline ; Hanna, Nadine ; Jondeau, Guillaume ; Boileau, Catherine
Publisher:Switzerland: MDPI AG
Journal title:Genes, 2019-02, Vol.10 (2), p.128
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Marfan Syndrome Variability: Investigation of the Roles of Sarcolipin and Calcium as Potential Transregulator of FBN1 Expression
Author / Creator:Benarroch, Louise ; Aubart, Mélodie ; Gross, Marie-Sylvie ; Jacob, Marie-Paule ; Arnaud, Pauline ; Hanna, Nadine ; Jondeau, Guillaume ; Boileau, Catherine
Publisher:Switzerland: MDPI
Journal title:Genes, 2018-08, Vol.9 (9), p.421
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Association of modifiers and other genetic factors explain Marfan syndrome clinical variability
Author / Creator: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
Publisher:England: Nature Publishing Group
Journal title:European journal of human genetics : EJHG, 2018-12, Vol.26 (12), p.1759-1772
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ArticlesPeer ReviewedFull Text
JAK Inhibition in Aicardi-Goutières Syndrome: a Monocentric Multidisciplinary Real-World Approach Study
Author / Creator:Frémond, Marie-Louise ; Hully, Marie ; Fournier, Benjamin ; Barrois, Rémi ; Lévy, Romain ; Aubart, Mélodie ; Castelle, Martin ; Chabalier, Delphine ; Gins, Clarisse ; Sarda, Eugénie ; Al Adba, Buthaina ; Couderc, Sophie ; D’ Almeida, Céline ; Berat, Claire-Marine ; Durrleman, Chloé ; Espil, Caroline ; Lambert, Laetitia ; Méni, Cécile ; Périvier, Maximilien ; Pillet, Pascal ; Polivka, Laura ; Schiff, Manuel ; Todosi, Calina ; Uettwiller, Florence ; Lepelley, Alice ; Rice, Gillian I. ; Seabra, Luis ; Sanquer, Sylvia ; Hulin, Anne ; Pressiat, Claire ; Goldwirt, Lauriane ; Bondet, Vincent ; Duffy, Darragh ; Moshous, Despina ; Bader-Meunier, Brigitte ; Bodemer, Christine ; Robin-Renaldo, Florence ; Boddaert, Nathalie ; Blanche, Stéphane ; Desguerre, Isabelle ; Crow, Yanick J. ; Neven, Bénédicte
Publisher:New York: Springer US
Journal title:Journal of clinical immunology, 2023-08, Vol.43 (6), p.1436-1447
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Pathogenic variants in THSD4, encoding the ADAMTS-like 6 protein, predispose to inherited thoracic aortic aneurysm
Author / Creator:Elbitar, Sandy ; Renard, Marjolijn ; Arnaud, Pauline ; Hanna, Nadine ; Jacob, Marie-Paule ; Guo, Dong-Chuan ; Tsutsui, Ko ; Gross, Marie-Sylvie ; Kessler, Ketty ; Tosolini, Laurent ; Dattilo, Vincenzo ; Dupont, Sebastien ; Jonquet, Jeremie ; Langeois, Maud ; Benarroch, Louise ; Aubart, Melodie ; Ghaleb, Youmna ; Abou Khalil, Yara ; Varret, Mathilde ; El Khoury, Petra ; Ho-Tin-Noé, Benoit ; Alembik, Yves ; Gaertner, Sébastien ; Isidor, Bertrand ; Gouya, Laurent ; Milleron, Olivier ; Sekiguchi, Kiyotoshi ; Milewicz, Dianna ; De Backer, Julie ; Le Goff, Carine ; Michel, Jean-Baptiste ; Jondeau, Guillaume ; Sakai, Lynn Y. ; Boileau, Catherine ; Abifadel, Marianne
Publisher:New York: Elsevier Inc
Journal title:Genetics in medicine, 2021-01, Vol.23 (1), p.111-122
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Brain 18 F-FDG PET reveals cortico-subcortical hypermetabolic dysfunction in juvenile neuropsychiatric systemic lupus erythematosus
Author / Creator:Rodrigo, Sebastian ; Costi, Stefania ; Ellul, Pierre ; Aubart, Melodie ; Boddaert, Nathalie ; Auvin, Stephane ; Elmaleh, Monique ; Ntorkou, Alexandra ; Bader-Meunier, Brigitte ; Lebon, Vincent ; Melki, Isabelle ; Chiron, Catherine
Publisher:Berlin/Heidelberg: Springer Berlin Heidelberg
Journal title:EJNMMI research, 2024-04, Vol.14 (1), p.34-34, Article 34
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ArticlesPeer ReviewedFull Text
Core-Shell Polymer-Based Nanoparticles Deliver miR-155-5p to Endothelial Cells
Author / Creator:Antunes, Joana ; Benarroch, Louise ; Moraes, Fernanda ; Juenet, Maya ; Gross, Marie-Sylvie ; Aubart, Mélodie ; Boileau, Catherine ; Caligiuri, Giuseppina ; Nicoletti, Antonino ; Ollivier, Véronique ; Chaubet, Frédéric ; Letourneur, Didier ; Chauvierre, Cédric
Publisher:Elsevier
Journal title:Molecular therapy. Nucleic acids, 2019-09, Vol.17, p.210-222
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ArticlesPeer ReviewedFull Text
Early-Onset Osteoarthritis, Charcot-Marie-Tooth Like Neuropathy, Autoimmune Features, Multiple Arterial Aneurysms and Dissections: An Unrecognized and Life Threatening Condition: e96387
Author / Creator:Aubart, Melodie ; Gobert, Delphine ; Aubart-Cohen, Fleur ; Detaint, Delphine ; Hanna, Nadine ; d'Indya, Hyacintha ; Lequintrec, Janine-Sophie ; Renard, Philippe ; Vigneron, Anne-Marie ; Dieude, Philippe
Journal title:PloS one, 2014-05, Vol.9 (5)
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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)

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Herpes simplex encephalitis in a patient with a distinctive form of inherited IFNAR1 deficiency

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Neurological features related to influenza virus in the pediatric population: a 3-year monocentric retrospective study

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Teenager Febrile Dystextia

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Ceroid lipofuscinosis type 2 disease: Effective presymptomatic therapy—Oldest case of a presymptomatic enzyme therapy

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Core-Shell Polymer-Based Nanoparticles Deliver miR-155-5p to Endothelial Cells

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Early-onset osteoarthritis, Charcot-Marie-Tooth like neuropathy, autoimmune features, multiple arterial aneurysms and dissections: an unrecognized and life threatening condition

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Quantifying the Genetic Basis of Marfan Syndrome Clinical Variability

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Homozygous and compound heterozygous mutations in the FBN1 gene: unexpected findings in molecular diagnosis of Marfan syndrome

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

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

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

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JAK Inhibition in Aicardi-Goutières Syndrome: a Monocentric Multidisciplinary Real-World Approach Study

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Pathogenic variants in THSD4, encoding the ADAMTS-like 6 protein, predispose to inherited thoracic aortic aneurysm

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Brain 18 F-FDG PET reveals cortico-subcortical hypermetabolic dysfunction in juvenile neuropsychiatric systemic lupus erythematosus

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Core-Shell Polymer-Based Nanoparticles Deliver miR-155-5p to Endothelial Cells

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Early-Onset Osteoarthritis, Charcot-Marie-Tooth Like Neuropathy, Autoimmune Features, Multiple Arterial Aneurysms and Dissections: An Unrecognized and Life Threatening Condition: e96387

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