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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Journal Article
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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Journal Article
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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Journal Article
Patients with KCNH1-related intellectual disability without distinctive features of Zimmermann-Laband/Temple-Baraitser syndrome
Aubert Mucca, Marion, Patat, Olivier, Whalen, Sandra, Arnaud, Lionel, Barcia, Giulia, Buratti, Julien, Cogné, Benjamin, Doummar, Diane, Karsenty, Caroline, Kenis, Sandra, Leguern, Eric, Lesca, Gaetan, Nava, Caroline, Nizon, Mathilde, Piton, Amelie, Valence, Stéphanie, Villard, Laurent, Weckhuysen, Sarah, Keren, Boris, Mignot, Cyril
Published in Journal of medical genetics (01.05.2022)
Published in Journal of medical genetics (01.05.2022)
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Journal Article
Confirmation of FZD5 implication in a cohort of 50 patients with ocular coloboma
Aubert-Mucca, Marion, Pernin-Grandjean, Julie, Marchasson, Sébastien, Gaston, Veronique, Habib, Christophe, Meunier, Isabelle, Sigaudy, Sabine, Kaplan, Josseline, Roche, Olivier, Denis, Danièle, Bitoun, Pierre, Haye, Damien, Verloes, Alain, Calvas, Patrick, Chassaing, Nicolas, Plaisancié, Julie
Published in European journal of human genetics : EJHG (01.01.2021)
Published in European journal of human genetics : EJHG (01.01.2021)
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Journal Article
First evidence of SOX2 mutations in Peters' anomaly: Lessons from molecular screening of 95 patients
Chesneau, Bertrand, Aubert‐Mucca, Marion, Fremont, Félix, Pechmeja, Jacmine, Soler, Vincent, Isidor, Bertrand, Nizon, Mathilde, Dollfus, Hélène, Kaplan, Josseline, Fares‐Taie, Lucas, Rozet, Jean‐Michel, Busa, Tiffany, Lacombe, Didier, Naudion, Sophie, Amiel, Jeanne, Rio, Marlène, Attie‐Bitach, Tania, Lesage, Cécile, Thouvenin, Dominique, Odent, Sylvie, Morel, Godelieve, Vincent‐Delorme, Catherine, Boute, Odile, Vanlerberghe, Clémence, Dieux, Anne, Boussion, Simon, Faivre, Laurence, Pinson, Lucile, Laffargue, Fanny, Le Guyader, Gwenaël, Le Meur, Guylène, Prieur, Fabienne, Lambert, Victor, Laudier, Beatrice, Cottereau, Edouard, Ayuso, Carmen, Corton‐Pérez, Marta, Bouneau, Laurence, Le Caignec, Cédric, Gaston, Véronique, Jeanton‐Scaramouche, Claire, Dupin‐Deguine, Delphine, Calvas, Patrick, Chassaing, Nicolas, Plaisancié, Julie
Published in Clinical genetics (01.05.2022)
Published in Clinical genetics (01.05.2022)
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Journal Article
Case Report: Successful Cerebral Revascularization and Cardiac Transplant in a 16-Year-Old Male With Syndromic BRCC3 -Related Moyamoya Angiopathy
Pyra, Pierrick, Darcourt, Jean, Aubert-Mucca, Marion, Brandicourt, Pierre, Patat, Olivier, Cheuret, Emmanuel, Brochard, Karine, Sevely, Annick, Calviere, Lionel, Karsenty, Clément
Published in Frontiers in neurology (30.03.2021)
Published in Frontiers in neurology (30.03.2021)
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Journal Article
Prenatal features and neonatal management of severe hyperparathyroidism caused by the heterozygous inactivating calcium-sensing receptor variant, Arg185Gln: A case report and review of the literature
Aubert-Mucca, Marion, Dubucs, Charlotte, Groussolles, Marion, Vial, Julie, Le Guillou, Edouard, Porquet-Bordes, Valerie, Pasmant, Eric, Salles, Jean-Pierre, Edouard, Thomas
Published in Bone Reports (01.12.2021)
Published in Bone Reports (01.12.2021)
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Journal Article
WNT11, a new gene associated with early onset osteoporosis, is required for osteoblastogenesis
Caetano da Silva, Caroline, Edouard, Thomas, Fradin, Melanie, Aubert-Mucca, Marion, Ricquebourg, Manon, Raman, Ratish, Salles, Jean Pierre, Charon, Valérie, Guggenbuhl, Pascal, Muller, Marc, Cohen-Solal, Martine, Collet, Corinne
Published in Human molecular genetics (19.05.2022)
Published in Human molecular genetics (19.05.2022)
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Journal Article
Web Resource
Ellis-Van Creveld Syndrome: Clinical and Molecular Analysis of 50 Individuals
Aubert-Mucca, Marion, Huber, Céline, Baujat, Genevieve, Michot, Caroline, Zarhrate, Mohammed, Bras, Marc, Boutaud, Lucile, Malan, Valérie, Attie-Bitach, Tania, Cormier-Daire, Valerie, Alembik, Yves, Alex-Cordier, Marie-Pierre, Aziza, Jacqueline, Capri, Yline, Caeymaen, Laurence, Carles, Dominique, Devillard, Françoise, Devriendt, Koenraad, Dieux, Anne, Dubucs, Charlotte, Chehadeh, Salima El, Faivre, Laurence, Francannet, Christine, Gaillard, Dominique, Gérard, Marion, Ginglinger, Emmanuelle, Gonzales, Marie, Isidor, Bertrand, Jobic, Florence, Julia, Sophie, Layet, Valerie, Lambert, Laetitia, Manouvrier, Sylvie, Martin-Coignard, Dominique, Mathieu, Michèle, Megarbané, Andre, Melki, Judith, Mortier, Geert, Ormieres, Clotilde, Pelluard, Fanny, Putoux, Audrey, Quélin, Chloé, Sigaudy, Sabine, Spaccini, Luigina, Verloes, Alain, Zaafrane, Khaloua
Published in Journal of medical genetics (01.04.2023)
Published in Journal of medical genetics (01.04.2023)
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Journal Article
O’Donnell-Luria-Rodan syndrome: description of a second multinational cohort and refinement of the phenotypic spectrum
Velmans, Clara, O'Donnell-Luria, Anne H, Argilli, Emanuela, Tran Mau-them, Frederic, Vitobello, Antonio, Chan, Marcus CY, Fung, Jasmine Lee-Fong, Rech, Megan, Abicht, Angela, Aubert Mucca, Marion, Carmichael, Jason, Chassaing, Nicolas, Clark, Robin, Coubes, Christine, Denommé-Pichon, Anne-Sophie, de Dios, John Karl, England, Eleina, Funalot, Benoit, Gerard, Marion, Joseph, Maries, Kennedy, Colleen, Kumps, Camille, Willems, Marjolaine, van de Laar, Ingrid M B.H, Aarts-Tesselaar, Coranne, van Slegtenhorst, Marjon, Lehalle, Daphné, Leppig, Kathleen, Lessmeier, Lennart, Pais, Lynn S, Paterson, Heather, Ramanathan, Subhadra, Rodan, Lance H, Superti-Furga, Andrea, Chung, Brian H.Y., Sherr, Elliott, Netzer, Christian, Schaaf, Christian P, Erger, Florian
Published in Journal of medical genetics (01.07.2022)
Published in Journal of medical genetics (01.07.2022)
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Journal Article
Impact of genotype on the progression of aortic disease in patients with Marfan syndrome and Loeys–Dietz syndrome
Vincent, Rémi, Bajanca, Fernanda, Edouard, Thomas, Plaisancie, Julie, Aubert-Mucca, Marion, Chesneau, Bertrand, Guitarte Vidaurre, Aitor, Dulac, Yves
Published in Archives of Cardiovascular Diseases Supplements (01.09.2021)
Published in Archives of Cardiovascular Diseases Supplements (01.09.2021)
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Journal Article
Impact of genotype on the progression of aortic disease in patients with Marfan syndrome and Loeys–Dietz syndrome
Vincent, Rémi, Bajanca, Fernanda, Edouard, Thomas, Plaisancie, Julie, Aubert-Mucca, Marion, Chesneau, Bertrand, Guitarte Vidaurre, Aitor, Dulac, Yves
Published in Archives of Cardiovascular Diseases Supplements (01.09.2021)
Published in Archives of Cardiovascular Diseases Supplements (01.09.2021)
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Journal Article
Prenatal features and neonatal management of severe hyperparathyroidism caused by the heterozygous inactivating calcium-sensing receptor variant, Arg185Gln: A case report and review of the literature
Aubert-Mucca, Marion, Dubucs, Charlotte, Groussolles, Marion, Vial, Julie, Le Guillou, Edouard, Porquet-Bordes, Valerie, Pasmant, Eric, Salles, Jean-Pierre, Edouard, Thomas
Published in Bone reports (01.12.2021)
Published in Bone reports (01.12.2021)
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Report
Case Report: Successful Cerebral Revascularization and Cardiac Transplant in a 16-Year-Old Male With Syndromic BRCC3-Related Moyamoya Angiopathy
Pyra, Pierrick, Darcourt, Jean, Aubert-Mucca, Marion, Brandicourt, Pierre, Patat, Olivier, Cheuret, Emmanuel, Brochard, Karine, Sevely, Annick, Calviere, Lionel, Karsenty, Clément
Published in Frontiers in neurology (01.01.2021)
Published in Frontiers in neurology (01.01.2021)
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Report