The RASopathy Family: Consequences of Germline Activation of the RAS/MAPK Pathway
Tajan, Mylène, Paccoud, Romain, Branka, Sophie, Edouard, Thomas, Yart, Armelle
Published in Endocrine reviews (01.10.2018)
Published in Endocrine reviews (01.10.2018)
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Noonan syndrome: improving recognition and diagnosis
Zenker, Martin, Edouard, Thomas, Blair, Joanne C, Cappa, Marco
Published in Archives of disease in childhood (01.12.2022)
Published in Archives of disease in childhood (01.12.2022)
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Pituitary Stalk Interruption Syndrome from Infancy to Adulthood: Clinical, Hormonal, and Radiological Assessment According to the Initial Presentation
Bar, Céline, Zadro, Charline, Diene, Gwenaelle, Oliver, Isabelle, Pienkowski, Catherine, Jouret, Béatrice, Cartault, Audrey, Ajaltouni, Zeina, Salles, Jean-Pierre, Sevely, Annick, Tauber, Maithé, Edouard, Thomas
Published in PloS one (12.11.2015)
Published in PloS one (12.11.2015)
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Marfan Sartan: a randomized, double-blind, placebo-controlled trial
Milleron, Olivier, Arnoult, Florence, Ropers, Jacques, Aegerter, Philippe, Detaint, Delphine, Delorme, Gabriel, Attias, David, Tubach, Florence, Dupuis-Girod, Sophie, Plauchu, Henry, Barthelet, Martine, Sassolas, Francois, Pangaud, Nicolas, Naudion, Sophie, Thomas-Chabaneix, Julie, Dulac, Yves, Edouard, Thomas, Wolf, Jean-Eric, Faivre, Laurence, Odent, Sylvie, Basquin, Adeline, Habib, Gilbert, Collignon, Patrick, Boileau, Catherine, Jondeau, Guillaume
Published in European heart journal (21.08.2015)
Published in European heart journal (21.08.2015)
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Genetic disruption of the oncogenic HMGA2–PLAG1–IGF2 pathway causes fetal growth restriction
Abi Habib, Walid, Brioude, Frédéric, Edouard, Thomas, Bennett, James T, Lienhardt-Roussie, Anne, Tixier, Frédérique, Salem, Jennifer, Yuen, Tony, Azzi, Salah, Le Bouc, Yves, Harbison, Madeleine D, Netchine, Irène
Published in Genetics in medicine (01.02.2018)
Published in Genetics in medicine (01.02.2018)
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Parental mosaicism in Marfan and Ehlers-Danlos syndromes and related disorders
Chesneau, Bertrand, Plancke, Aurélie, Rolland, Guillaume, Chassaing, Nicolas, Coubes, Christine, Brischoux-Boucher, Elise, Edouard, Thomas, Dulac, Yves, Aubert-Mucca, Marion, Lavabre-Bertrand, Thierry, Plaisancié, Julie, Khau Van Kien, Philippe
Published in European journal of human genetics : EJHG (01.05.2021)
Published in European journal of human genetics : EJHG (01.05.2021)
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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)
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
Published in Genetics in medicine (01.09.2019)
Published in Genetics in medicine (01.09.2019)
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Editorial: Endocrine aspects of Noonan syndrome and related syndromes
Radetti, Giorgio, Edouard, Thomas, Mazzanti, Laura, Tartaglia, Marco, Zenker, Martin
Published in Frontiers in endocrinology (Lausanne) (05.01.2023)
Published in Frontiers in endocrinology (Lausanne) (05.01.2023)
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Journal Article
MFAP5 Loss-of-Function Mutations Underscore the Involvement of Matrix Alteration in the Pathogenesis of Familial Thoracic Aortic Aneurysms and Dissections
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
Published in American journal of human genetics (04.12.2014)
Published in American journal of human genetics (04.12.2014)
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Orofacial Features, Oral Health-Related Quality of Life, and Exposure to Bullying in Osteogenesis Imperfecta: A Cross-Sectional Study
Broutin, Alice, Salles, Jean-Pierre, Porquet-Bordes, Valérie, Edouard, Thomas, Vaysse, Frédéric, Noirrit-Esclassan, Emmanuelle
Published in Children (Basel) (26.07.2024)
Published in Children (Basel) (26.07.2024)
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Clinical heterogeneity of NADSYN1‐associated VCRL syndrome
Aubert‐Mucca, Marion, Janel, Caroline, Porquet‐Bordes, Valérie, Patat, Olivier, Touraine, Renaud, Edouard, Thomas, Michot, Caroline, Tessier, Aude, Cormier‐Daire, Valérie, Attie‐Bitach, Tania, Baujat, Geneviève
Published in Clinical genetics (01.07.2023)
Published in Clinical genetics (01.07.2023)
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Health-related quality of life in children and adolescents with Marfan syndrome or related disorders: a controlled cross-sectional study
Edouard, Thomas, Picot, Marie-Christine, Bajanca, Fernanda, Huguet, Helena, Guitarte, Aitor, Langeois, Maud, Chesneau, Bertrand, Van Kien, Philippe Khau, Garrigue, Eric, Dulac, Yves, Amedro, Pascal
Published in Orphanet journal of rare diseases (30.04.2024)
Published in Orphanet journal of rare diseases (30.04.2024)
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Next-Generation Sequencing Analysis Reveals Frequent Familial Origin and Oligogenism in Congenital Hypothyroidism With Dyshormonogenesis
Oliver-Petit, Isabelle, Edouard, Thomas, Jacques, Virginie, Bournez, Marie, Cartault, Audrey, Grunenwald, Solange, Savagner, Frédérique
Published in Frontiers in endocrinology (Lausanne) (24.06.2021)
Published in Frontiers in endocrinology (Lausanne) (24.06.2021)
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Journal Article
Noonan syndrome males display Sertoli cell-specific primary testicular insufficiency
Moniez, Sophie, Pienkowski, Catherine, Lepage, Benoit, Hamdi, Safouane, Daudin, Myriam, Oliver, Isabelle, Jouret, Béatrice, Cartault, Audrey, Diene, Gwenaelle, Verloes, Alain, Cavé, Hélène, Salles, Jean-Pierre, Tauber, Maithé, Yart, Armelle, Edouard, Thomas
Published in European journal of endocrinology (01.12.2018)
Published in European journal of endocrinology (01.12.2018)
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Journal Article
Noonan syndrome-causing SHP2 mutants inhibit insulin-like growth factor 1 release via growth hormone-induced ERK hyperactivation, which contributes to short stature
De Rocca Serra-Nédélec, Audrey, Edouard, Thomas, Tréguer, Karine, Tajan, Mylène, Araki, Toshiyuki, Dance, Marie, Mus, Marianne, Montagner, Alexandra, Tauber, Maïté, Salles, Jean-Pierre, Valet, Philippe, Neel, Benjamin G., Raynal, Patrick, Yart, Armelle
Published in Proceedings of the National Academy of Sciences - PNAS (13.03.2012)
Published in Proceedings of the National Academy of Sciences - PNAS (13.03.2012)
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Journal Article
Contribution of LHX4 Mutations to Pituitary Deficits in a Cohort of 417 Unrelated Patients
Cohen, Enzo, Maghnie, Mohamad, Collot, Nathalie, Leger, Juliane, Dastot, Florence, Polak, Michel, Rose, Sophie, Touraine, Philippe, Duquesnoy, Philippe, Tauber, Maïté, Copin, Bruno, Bertrand, Anne-Marie, Brioude, Frederic, Larizza, Daniela, Edouard, Thomas, González Briceño, Laura, Netchine, Irène, Oliver-Petit, Isabelle, Sobrier, Marie-Laure, Amselem, Serge, Legendre, Marie
Published in The journal of clinical endocrinology and metabolism (01.01.2017)
Published in The journal of clinical endocrinology and metabolism (01.01.2017)
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Journal Article
Effect of Beta-Blockade on Ascending Aortic Dilatation in Children With the Marfan Syndrome
Ladouceur, Magalie, MD, Fermanian, Christophe, PhD, Lupoglazoff, Jean-Marc, MD, Edouard, Thomas, MD, Dulac, Yves, MD, Acar, Philippe, MD, Magnier, Suzel, MD, Jondeau, Guillaume, MD, PhD
Published in The American journal of cardiology (01.02.2007)
Published in The American journal of cardiology (01.02.2007)
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Journal Article
The Tyrosine Phosphatase SHP2: A New Target for Insulin Resistance?
Saint-Laurent, Céline, Mazeyrie, Laurène, Tajan, Mylène, Paccoud, Romain, Castan-Laurell, Isabelle, Valet, Philippe, Edouard, Thomas, Pradère, Jean-Philippe, Dray, Cédric, Yart, Armelle
Published in Biomedicines (31.08.2022)
Published in Biomedicines (31.08.2022)
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Journal Article
LEOPARD syndrome-associated SHP2 mutation confers leanness and protection from diet-induced obesity
Tajan, Mylène, Batut, Aurélie, Cadoudal, Thomas, Deleruyelle, Simon, Le Gonidec, Sophie, Saint Laurent, Céline, Vomscheid, Maëlle, Wanecq, Estelle, Tréguer, Karine, De Rocca Serra-Nédélec, Audrey, Vinel, Claire, Marques, Marie-Adeline, Pozzo, Joffrey, Kunduzova, Oksana, Salles, Jean-Pierre, Tauber, Maithé, Raynal, Patrick, Cavé, Hélène, Edouard, Thomas, Valet, Philippe, Yart, Armelle
Published in Proceedings of the National Academy of Sciences - PNAS (21.10.2014)
Published in Proceedings of the National Academy of Sciences - PNAS (21.10.2014)
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A +3 variant at a donor splice site leads to a skipping of the MYH11 exon 32, a recurrent RNA defect causing Heritable Thoracic Aortic Aneurysm and Dissection and/or Patent Ductus Arteriosus
Chesneau, Bertrand, Plancke, Aurélie, Rolland, Guillaume, Marcheix, Bertrand, Dulac, Yves, Edouard, Thomas, Plaisancié, Julie, Aubert‐Mucca, Marion, Julia, Sophie, Langeois, Maud, Lavabre‐Bertrand, Thierry, Khau Van Kien, Philippe
Published in Molecular genetics & genomic medicine (01.11.2021)
Published in Molecular genetics & genomic medicine (01.11.2021)
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