OpenURL Connection Search

Select item for more details and to access through your institution.

TGFB2 mutations cause familial thoracic aortic aneurysms and dissections associated with mild systemic features of Marfan syndrome.
Published in:
Nature Genetics, 2012, v. 44, n. 8, p. 916, doi. 10.1038/ng.2348
By:
- Boileau, Catherine;
- Guo, Dong-Chuan;
- Hanna, Nadine;
- Regalado, Ellen S;
- Detaint, Delphine;
- Gong, Limin;
- Varret, Mathilde;
- Prakash, Siddharth K;
- Li, Alexander H;
- d'Indy, Hyacintha;
- Braverman, Alan C;
- Grandchamp, Bernard;
- Kwartler, Callie S;
- Gouya, Laurent;
- Santos-Cortez, Regie Lyn P;
- Abifadel, Marianne;
- Leal, Suzanne M;
- Muti, Christine;
- Shendure, Jay;
- Gross, Marie-Sylvie
Publication type:
Article
Early-Onset Osteoarthritis, Charcot-Marie-Tooth Like Neuropathy, Autoimmune Features, Multiple Arterial Aneurysms and Dissections: An Unrecognized and Life Threatening Condition.
Published in:
PLoS ONE, 2014, v. 9, n. 5, p. 1, doi. 10.1371/journal.pone.0096387
By:
- 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
Publication type:
Article
Identification of the minimal combination of clinical features in probands for efficient mutation detection in the FBN1 gene.
Published in:
European Journal of Human Genetics, 2009, v. 17, n. 9, p. 1121, doi. 10.1038/ejhg.2009.36
By:
- Stheneur, Chantal;
- Collod-Béroud, Gwenaëlle;
- Faivre, Laurence;
- Buyck, Jean François;
- Gouya, Laurent;
- Le Parc, Jean-Marie;
- Moura, Bertrand;
- Muti, Christine;
- Grandchamp, Bernard;
- Sultan, Gilles;
- Claustres, Mireille;
- Aegerter, Philippe;
- Chevallier, Bertrand;
- Jondeau, Guillaume;
- Boileau, Catherine
Publication type:
Article
Evaluation of predictive models in daily practice for the identification of patients with Lynch syndrome.
Published in:
International Journal of Cancer, 2012, v. 130, n. 6, p. 1367, doi. 10.1002/ijc.26144
By:
- Tresallet, Christophe;
- Brouquet, Antoine;
- Julié, Catherine;
- Beauchet, Alain;
- Vallot, Céline;
- Ménégaux, Fabrice;
- Mitry, Emmanuel;
- Radvanyi, François;
- Malafosse, Robert;
- Rougier, Philippe;
- Nordlinger, Bernard;
- Laurent-Puig, Pierre;
- Boileau, Catherine;
- Emile, Jean-François;
- Muti, Christine;
- Penna, Christophe;
- Hofmann-Radvanyi, Hélène
Publication type:
Article
Antenatal ultrasound features of isolated recurrent copy number variation in 7q11.23 (Williams syndrome and 7q11.23 duplication syndrome).
Published in:
Prenatal Diagnosis, 2023, v. 43, n. 6, p. 734, doi. 10.1002/pd.6340
By:
- Courdier, Cécile;
- Boudjarane, John;
- Malan, Valérie;
- Muti, Christine;
- Sperelakis‐Beedham, Brian;
- Odent, Sylvie;
- Jaillard, Sylvie;
- Quelin, Chloé;
- Le Caignec, Cédric;
- Patat, Olivier;
- Dubucs, Charlotte;
- Julia, Sophie;
- Schluth‐Bolard, Caroline;
- Goumy, Carole;
- Redon, Sylvia;
- Gaillard, Jean‐Baptiste;
- Huynh, Minh Tuan;
- Dupont, Céline;
- Tabet, Anne‐Claude;
- Cogan, Guillaume
Publication type:
Article
Identification of 23 TGFBR2 and 6 TGFBR1 gene mutations and genotype-phenotype investigations in 457 patients with Marfan syndrome type I and II, Loeys-Dietz syndrome and related disorders.
Published in:
Human Mutation, 2008, v. 29, n. 11, p. E284, doi. 10.1002/humu.20871
By:
- Stheneur, Chantal;
- Collod-Béroud, Gwenaëlle;
- Faivre, Laurence;
- Gouya, Laurent;
- Sultan, Gilles;
- Le Parc, Jean-Marie;
- Moura, Bertrand;
- Attias, David;
- Muti, Christine;
- Sznajder, Marc;
- Claustres, Mireille;
- Junien, Claudine;
- Baumann, Clarisse;
- Cormier-Daire, Valérie;
- Rio, Marlène;
- Lyonnet, Stanislas;
- Plauchu, Henri;
- Lacombe, Didier;
- Chevallier, Bertrand;
- Jondeau, Guillaume
Publication type:
Article
Identification in Daily Practice of Patients With Lynch Syndrome (Hereditary Nonpolyposis Colorectal Cancer): Revised Bethesda Guidelines-Based Approach Versus Molecular Screening.
Published in:
American Journal of Gastroenterology (Springer Nature), 2008, v. 103, n. 11, p. 2825, doi. 10.1111/j.1572-0241.2008.02084.x
By:
- Julié, Catherine;
- Trésallet, Christophe;
- Brouquet, Antoine;
- Vallot, Céline;
- Zimmermann, Ute;
- Mitry, Emmanuel;
- Radvanyi, François;
- Rouleau, Etienne;
- Lidereau, Rosette;
- Coulet, Florence;
- Olschwang, Sylviane;
- Frébourg, Thierry;
- Rougier, Philippe;
- Nordlinger, Bernard;
- Laurent-Puig, Pierre;
- Penna, Christophe;
- Boileau, Catherine;
- Franc, Brigitte;
- Muti, Christine;
- Hofmann-Radvanyi, Hélène
Publication type:
Article

Found: 7

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

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

Identification of the minimal combination of clinical features in probands for efficient mutation detection in the FBN1 gene.

Evaluation of predictive models in daily practice for the identification of patients with Lynch syndrome.

Antenatal ultrasound features of isolated recurrent copy number variation in 7q11.23 (Williams syndrome and 7q11.23 duplication syndrome).

Identification of 23 TGFBR2 and 6 TGFBR1 gene mutations and genotype-phenotype investigations in 457 patients with Marfan syndrome type I and II, Loeys-Dietz syndrome and related disorders.

Identification in Daily Practice of Patients With Lynch Syndrome (Hereditary Nonpolyposis Colorectal Cancer): Revised Bethesda Guidelines-Based Approach Versus Molecular Screening.