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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.
Published in:
Molecular Genetics & Genomic Medicine, 2021, v. 9, n. 11, p. 1, doi. 10.1002/mgg3.1814
By:
- 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
Publication type:
Article
Clinical heterogeneity of NADSYN1‐associated VCRL syndrome.
Published in:
Clinical Genetics, 2023, v. 104, n. 1, p. 114, doi. 10.1111/cge.14328
By:
- 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
Publication type:
Article
First evidence of SOX2 mutations in Peters' anomaly: Lessons from molecular screening of 95 patients.
Published in:
Clinical Genetics, 2022, v. 101, n. 5/6, p. 494, doi. 10.1111/cge.14123
By:
- 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
Publication type:
Article
WNT11, a new gene associated with early onset osteoporosis, is required for osteoblastogenesis.
Published in:
Human Molecular Genetics, 2022, v. 31, n. 10, p. 1622, doi. 10.1093/hmg/ddab349
By:
- Silva, Caroline Caetano da;
- 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
Publication type:
Article
Case Report: Successful Cerebral Revascularization and Cardiac Transplant in a 16-Year-Old Male With Syndromic BRCC3 -Related Moyamoya Angiopathy.
Published in:
Frontiers in Neurology, 2021, v. 11, p. N.PAG, doi. 10.3389/fneur.2021.655303
By:
- Pyra, Pierrick;
- Darcourt, Jean;
- Aubert-Mucca, Marion;
- Brandicourt, Pierre;
- Patat, Olivier;
- Cheuret, Emmanuel;
- Brochard, Karine;
- Sevely, Annick;
- Calviere, Lionel;
- Karsenty, Clément
Publication type:
Article

Found: 5

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.

Clinical heterogeneity of NADSYN1‐associated VCRL syndrome.

First evidence of SOX2 mutations in Peters' anomaly: Lessons from molecular screening of 95 patients.

WNT11, a new gene associated with early onset osteoporosis, is required for osteoblastogenesis.

Case Report: Successful Cerebral Revascularization and Cardiac Transplant in a 16-Year-Old Male With Syndromic BRCC3 -Related Moyamoya Angiopathy.