Zobrazeno 1 - 10
of 13
pro vyhledávání: '"A.C. Brehin"'
Autor:
Elise Schaefer, Delphine Dupin Deguine, C. Rouzier, Estelle Gandjbakhch, Krystelle Séné, Claire Cécile Michon, Marie Lise Babonneau, Philippe Charron, Caroline Sawka, Bertrand Isidor, Jean François Pruny, Mélanie Hebert, Stéphanie Staraci, Isabelle Denjoy, Caroline Rooryck-Thambo, Ibticem Raji, Rafik Mansouri, Aurélien Palmyre, Linda Akloul, Sandrine Brice, Annick Toutain, Sophie Tezenas du Montcel, Angelique Curjol, Carole Maupain, Gipsy Billy, Céline Bordet, Alexandre Moerman, Pascale Richard, Marcela Gargiulo, Véronique Fressart, Elsa Le Boette, Flavie Ader, Bruno Leheup, Marc Planes, Karine Nguyen, A.C. Brehin, Jean Michael Mazzella, Amine Bekhechi
Publikováno v:
Journal of Clinical Medicine
Volume 9
Issue 5
Journal of Clinical Medicine, MDPI, 2020, 9 (5), pp.1365. ⟨10.3390/jcm9051365⟩
Journal of Clinical Medicine, 2020, 9 (5), pp.1365. ⟨10.3390/jcm9051365⟩
Journal of Clinical Medicine, Vol 9, Iss 1365, p 1365 (2020)
Volume 9
Issue 5
Journal of Clinical Medicine, MDPI, 2020, 9 (5), pp.1365. ⟨10.3390/jcm9051365⟩
Journal of Clinical Medicine, 2020, 9 (5), pp.1365. ⟨10.3390/jcm9051365⟩
Journal of Clinical Medicine, Vol 9, Iss 1365, p 1365 (2020)
Predictive genetic testing (PGT) is offered to asymptomatic relatives at risk of hereditary heart disease, but the impact of result disclosure has been little studied. We evaluated the psychosocial impacts of PGT in hereditary heart disease, using se
Autor:
Eline Overwater, A.C. Brehin, Bertrand Isidor, Luisa Marsili, Ho Y. Cheung, Yvonne Hilhorst-Hofstee, Catherine Boileau, Nadine Hanna, Els Voorhoeve, Fanny Morice-Picard, J. Peter van Tintelen, Yline Capri, Laurent Gouya, Pauline Arnaud, Eelco Dulfer, Clémence Vanlerberghe, Marieke J.H. Baars, Alessandra Maugeri, Arjan C. Houweling, Marion Gérard, Sylvie Odent, Leonie A. Menke, Lauriane Le Gloan, Dominique Bonneau, Geneviève Baujat
Publikováno v:
Marsili, L, Overwater, E, Hanna, N, Baujat, G, Baars, M J H, Boileau, C, Bonneau, D, Brehin, A C, Capri, Y, Cheung, H Y, Dulfer, E, Gerard, M, Gouya, L, Hilhorst-Hofstee, Y, Houweling, A C, Isidor, B, Le Gloan, L, Menke, L A, Odent, S, Morice-Picard, F, Vanlerberghe, C, Voorhoeve, E, van Tintelen, J P, Maugeri, A & Arnaud, P 2020, ' Phenotypic spectrum of TGFB3 disease-causing variants in a Dutch-French cohort and first report of a homozygous patient ', Clinical Genetics, vol. 97, no. 5, pp. 723-730 . https://doi.org/10.1111/cge.13700
Clinical Genetics
Clinical Genetics, Wiley, 2020, ⟨10.1111/cge.13700⟩
Clinical genetics, 97(5), 723-730. Wiley-Blackwell
Clinical Genetics, 97(5), 723-730. WILEY
Clinical Genetics, Wiley, 2020, 97 (5), pp.723-730. ⟨10.1111/cge.13700⟩
Clinical Genetics, 97(5), 723-730. Wiley-Blackwell
Clinical Genetics, 2020, 97 (5), pp.723-730. ⟨10.1111/cge.13700⟩
Clinical Genetics, 97(5), 723-730. Wiley
Clinical Genetics
Clinical Genetics, Wiley, 2020, ⟨10.1111/cge.13700⟩
Clinical genetics, 97(5), 723-730. Wiley-Blackwell
Clinical Genetics, 97(5), 723-730. WILEY
Clinical Genetics, Wiley, 2020, 97 (5), pp.723-730. ⟨10.1111/cge.13700⟩
Clinical Genetics, 97(5), 723-730. Wiley-Blackwell
Clinical Genetics, 2020, 97 (5), pp.723-730. ⟨10.1111/cge.13700⟩
Clinical Genetics, 97(5), 723-730. Wiley
International audience; Disease-causing variants in TGFB3 cause an autosomal dominant connective tissue disorder which is hard to phenotypically delineate because of the small number of identified cases. The purpose of this retrospective cross-sectio
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::626e0d495b8a5bf0fa218f37d810cdbf
https://research.vumc.nl/en/publications/cfceb93c-2596-4576-acc1-a93ab5708ea3
https://research.vumc.nl/en/publications/cfceb93c-2596-4576-acc1-a93ab5708ea3
Autor:
Ho Y. Cheung, Yvonne Hilhorst-Hofstee, Eline Overwater, Eelco Dulfer, Geneviève Baujat, Sylvie Odent, Alessandra Maugeri, Dominique Bonneau, Fanny Morice-Picard, Catherine Boileau, A.C. Brehin, Arjan C. Houweling, M. J. H. Baars, Laurent Gouya, Marion Gérard, Bertrand Isidor, Clémence Vanlerberghe, Leonie A. Menke, Yline Capri, Nadine Hanna, Pauline Arnaud, J. Peter van Tintelen, Lauriane Le Gloan, Els Voorhoeve, Luisa Marsili
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::6764412cf6332c80527f993c9588cd11
https://doi.org/10.1111/cge.13700/v2/response1
https://doi.org/10.1111/cge.13700/v2/response1
Autor:
Alessandra Maugeri, Arjan C. Houweling, Clémence Vanlerberghe, A.C. Brehin, M. J. H. Baars, Nadine Hanna, E Overwater, Laurent Gouya, J. P. van Tintelen, Geneviève Baujat, Els Voorhoeve, Marion Gérard, Luisa Marsili, Pauline Arnaud
Publikováno v:
European Heart Journal. 40
Background Mutations in TGFB3 cause Loeys-Dietz syndrome-5 (LDS5), an autosomal dominantly inherited connective tissue disorder. LDS5 is characterized by aortic aneurysms and dissections associated with systemic features mainly involving the ocular a
Autor:
Sandrine Brice, Carole Maupain, Marcela Gargiulo, Annick Toutain, A.C. Brehin, Estelle Gandjbakhch, Stéphanie Staraci, P. Richard, Sylvie Odent, Aurélien Palmyre, Alexandre Moerman, P. Charron, S. Tezenas du Montcel, Céline Bordet, I Bertrand
Publikováno v:
European Heart Journal. 40
Introduction Hereditary heart diseases are most often characterized by autosomal dominant inheritance and delayed cardiac expression. Predictive genetic testing is offered to asymptomatic relatives to allow targeted medical care with early therapeuti
Autor:
A.C. Brehin, E. Barre, N. David, F. El Youssef, T. Hazelzet, C. Parrod, A. Gillibert, I. Durand
Publikováno v:
Archives of Cardiovascular Diseases Supplements. 13:329
Objective To assess the prognosis of isolated and associated persistent left superior vena cava (PLSVC) detected in fetal life. Methods All cases of PLSVC found in pregnant women between 2001 and 2018 were recorded in a local cardiac malformation reg
Autor:
Estelle Gandjbakhch, Laurence Faivre, P. Charron, Céline Bordet, C. Rouzier, M. Gargiulo, Carole Maupain, D. Dupin Deguine, S. Tezenas du Montcel, S. Brice, Sylvie Odent, C.R. Thambo, Bertrand Isidor, Karine Nguyen, Alexandre Moerman, Aurélien Palmyre, Elise Schaefer, P. Richard, A.C. Brehin, Annick Toutain
Publikováno v:
Archives of Cardiovascular Diseases Supplements. 12:32-33
Introduction Hereditary heart diseases are most often characterized by autosomal dominant inheritance and delayed cardiac expression. Predictive genetic testing (PGT) is offered to asymptomatic relatives to allow targeted medical care with early ther
Autor:
Aurélien Palmyre, Laurence Faivre, P. De Groote, P. Richard, Bertrand Isidor, Erwan Donal, Karine Nguyen, Céline Bordet, C.R. Thambo, Jean François Pruny, P. Reant, Alexandre Moerman, Richard Isnard, A.C. Brehin, P. Charron, F. Koraichi, Flavie Ader, Annick Toutain, Dominique Babuty
Publikováno v:
Archives of Cardiovascular Diseases Supplements. 13:23
Background The etiological spectrum of hypertrophic cardiomypathies (HCM) is wide and some rare causes are largely underdiagnosed. Purpose Our aim is to assess the impact of the next generation sequencing (NGS) for the diagnosis of two rare genetic d
Autor:
Y. Troadec, Philippe Charron, A.C. Brehin, Céline Bordet, A. Kuster, P. Richard, Damien Bonnet, Flavie Ader, Diala Khraiche, Caroline Rooryck-Thambo, Caroline Rambaud
Publikováno v:
Archives of Cardiovascular Diseases Supplements. 11:31
Cardiomyopathies (CM) are cardiac muscle diseases of the young adults. In 30–60% of cases, a genetic origin is observed with most often an autosomal dominant transmission. Except for syndromic and metabolic diseases, pediatric forms of primary card
Autor:
Virginie Grybek, G. Perez De Nanclares, H. Jueppner, Giovanna Mantovani, Marie-Laure Kottler, Patrick Hanna, Agnès Linglart, Anya Rothenbuhler, A.C. Brehin
Publikováno v:
Annales d'Endocrinologie. 77:282-283
Les differents defauts moleculaires de GNAS causent les pseudohypoparathyroidies (PHP). La PHP1A et la PseudoPHP sont dues a des mutations maternelles et paternelles de la sequence codante. La PHP1B est due a une perte de methylation (PdM) du promote