Zobrazeno 1 - 10
of 80
pro vyhledávání: '"Patrice Bouvagnet"'
Autor:
Anna‐Gaëlle Giguet‐Valard, Christelle Thevenin, Sophie Dreux, Valérie Decatrelle, Marie‐Laure Juve, Soraya Yazza, Clara Adenet, Marion Lesueur, Patrice Bouvagnet, Michèle Gueneret
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 12, Iss 2, Pp n/a-n/a (2024)
Abstract Background 4q21 microdeletion syndrome is an emergent non‐recurrent genomic disorder characterized by facial dysmorphy, progressive growth retardation, severe intellectual deficit, and absent or severely delayed speech. Deletions occur in
Externí odkaz:
https://doaj.org/article/6704bc2b360d4526a5cfba13553c780b
Autor:
Athar Khalil, Rachel Tanos, Nehmé El-Hachem, Mazen Kurban, Patrice Bouvagnet, Fadi Bitar, Georges Nemer
Publikováno v:
Scientific Reports, Vol 7, Iss 1, Pp 1-13 (2017)
Abstract Congenital heart disease is the leading cause of death in the first year of life. Mutations only in few genes have been linked to some cases of CHD. Thalidomide was used by pregnant women for morning sickness but was removed from the market
Externí odkaz:
https://doaj.org/article/159fba6c65b64a8ab565eb39390cea36
Autor:
Céline Augière, Simon Mégy, Rajae El Malti, Anne Boland, Loubna El Zein, Bernard Verrier, André Mégarbané, Jean-François Deleuze, Patrice Bouvagnet
Publikováno v:
PLoS ONE, Vol 10, Iss 6, p e0127903 (2015)
A Lebanese Maronite family presented with 13 relatives affected by various congenital heart defects (mainly atrial septal defects), conduction tissue anomalies and midline defects. No mutations were found in GATA4 and NKX2-5.A set of 399 poly(AC) mar
Externí odkaz:
https://doaj.org/article/214610e044c84a40973b2881a07e938b
Autor:
Hui Liu, Stéphanie Chatel, Christophe Simard, Ninda Syam, Laurent Salle, Vincent Probst, Julie Morel, Gilles Millat, Michel Lopez, Hugues Abriel, Jean-Jacques Schott, Romain Guinamard, Patrice Bouvagnet
Publikováno v:
PLoS ONE, Vol 8, Iss 1, p e54131 (2013)
Brugada syndrome (BrS) is a condition defined by ST-segment alteration in right precordial leads and a risk of sudden death. Because BrS is often associated with right bundle branch block and the TRPM4 gene is involved in conduction blocks, we screen
Externí odkaz:
https://doaj.org/article/8c664dfcc2d54849bed4c4b23a727a01
Autor:
Maximilian G Posch, Stephan Waldmuller, Melanie Müller, Thomas Scheffold, David Fournier, Miguel A Andrade-Navarro, Bernard De Geeter, Sophie Guillaumont, Claire Dauphin, Dany Yousseff, Katharina R Schmitt, Andreas Perrot, Felix Berger, Roland Hetzer, Patrice Bouvagnet, Cemil Özcelik
Publikováno v:
PLoS ONE, Vol 6, Iss 12, p e28872 (2011)
Secundum-type atrial septal defects (ASDII) account for approximately 10% of all congenital heart defects (CHD) and are associated with a familial risk. Mutations in transcription factors represent a genetic source for ASDII. Yet, little is known abo
Externí odkaz:
https://doaj.org/article/6cca99b082bb4c9ea87710d8b07682ce
Autor:
Brigitte Chhin, Didier Negre, Olivier Merrot, Jacqueline Pham, Yves Tourneur, Denis Ressnikoff, Martine Jaspers, Mark Jorissen, François-Loïc Cosset, Patrice Bouvagnet
Publikováno v:
PLoS Genetics, Vol 5, Iss 3, p e1000422 (2009)
Primary Ciliary Dyskinesia is a heterogeneous genetic disease that is characterized by cilia dysfunction of the epithelial cells lining the respiratory tracts, resulting in recurrent respiratory tract infections. Despite lifelong physiological therap
Externí odkaz:
https://doaj.org/article/e8f41bd193c146f399e80d50febdcbf9
Autor:
Emmanuelle Szenker-Ravi, Tim Ott, Muznah Khatoo, Anne Moreau de Bellaing, Wei Xuan Goh, Yan Ling Chong, Anja Beckers, Darshini Kannesan, Guillaume Louvel, Priyanka Anujan, Vydianathan Ravi, Carine Bonnard, Sébastien Moutton, Patric Schoen, Mélanie Fradin, Estelle Colin, André Megarbane, Linda Daou, Ghassan Chehab, Sylvie Di Filippo, Caroline Rooryck, Jean-François Deleuze, Anne Boland, Nicolas Arribard, Rukiye Eker, Sumanty Tohari, Alvin Yu-Jin Ng, Marlène Rio, Chun Teck Lim, Birgit Eisenhaber, Frank Eisenhaber, Byrappa Venkatesh, Jeanne Amiel, Hugues Roest Crollius, Christopher T. Gordon, Achim Gossler, Sudipto Roy, Tania Attie-Bitach, Martin Blum, Patrice Bouvagnet, Bruno Reversade
Publikováno v:
Nature genetics, 54(1), 62-72. Nature Publishing Group
Nature Genetics
Nature Genetics, 2022, 54 (1), pp.62-72. ⟨10.1038/s41588-021-00970-4⟩
Nature Genetics
Nature Genetics, 2022, 54 (1), pp.62-72. ⟨10.1038/s41588-021-00970-4⟩
Erratum in Publisher Correction: Discovery of a genetic module essential for assigning left-right asymmetry in humans and ancestral vertebrates. Szenker-Ravi E, Ott T, Khatoo M, Moreau de Bellaing A, Goh WX, Chong YL, Beckers A, Kannesan D, Louvel G,
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a8b44d805be19956b17466e0cc898449
https://pure.amc.nl/en/publications/discovery-of-a-genetic-module-essential-for-assigning-leftright-asymmetry-in-humans-and-ancestral-vertebrates(77a97734-296e-4e94-ba7b-51dce328a861).html
https://pure.amc.nl/en/publications/discovery-of-a-genetic-module-essential-for-assigning-leftright-asymmetry-in-humans-and-ancestral-vertebrates(77a97734-296e-4e94-ba7b-51dce328a861).html
Autor:
Nadine Hanna, Tiffany Busa, Mélodie Aubart, Bruno Leheup, Laurence Faivre, Maud Langeois, Laurent Gouya, Jacques Ropers, Patrice Bouvagnet, Sophie Dupuis-Girod, Sophie Naudion, Louise Benarroch, Didier Lacombe, Olivier Milleron, Sylvie Odent, Maria Tchitchinadze, Guillaume Jondeau, Catherine Boileau, Pauline Arnaud, Yves Dulac, Thomas Edouard, Laurence Bal
Publikováno v:
Genetics in Medicine
Genetics in Medicine, 2019, 21 (9), pp.2015-2024. ⟨10.1038/s41436-019-0444-y⟩
Genetics in Medicine, 2019, 21 (9), pp.2015-2024. ⟨10.1038/s41436-019-0444-y⟩
International audience; Purpose : Heritable thoracic aortic aneurysms and dissections (hTAAD) are life-threatening complications of well-known syndromic diseases or underdiagnosed nonsyndromic heritable forms (nshTAAD). Both have an autosomal dominan
Autor:
Kirsley Chennen, Philippe Loget, Alix Clemenson, Elise Schaefer, Marie-Josée Perez, Elsa Nourisson, Laura Mary, Corinne Stoetzel, Bernard Gasser, Jean Muller, Annie Buenerd, Lucile Pinson, Louise Devisme, Florence Petit, Olivier Poch, Anne Sophie Leuvrey, Fabien Guimiot, Patrice Bouvagnet, Caroline Rooryck-Thambo, Brigitte Leroy, Manuela Antin, Tania Attié-Bitach, Jelena Martinovic, Fanny Pelluard, Raymonde Bouvier, Hélène Dollfus, Brigitte Gilbert-Dussardier, Elisabeth Alanio-Detton, Maria Cristina Antal, Philippe Khau Van Kien
Publikováno v:
Clinical Genetics. 95:384-397
Bardet-Biedl syndrome (BBS) is an emblematic ciliopathy associated with retinal dystrophy, obesity, postaxial polydactyly, learning disabilities, hypogonadism and renal dysfunction. Before birth, enlarged/cystic kidneys as well as polydactyly are the
Autor:
Audrey Labalme, Nicolas Chatron, Mohamed Bakloul, Julia Mitchell, Olivier Metton, Flavie Diguet, Damien Sanlaville, Caroline Schluth-Bolard, Patrice Bouvagnet, Adrien Buisson, Linda Pons, Pierre-Antoine Rollat-Farnier, Sylvie Di Filippo
Publikováno v:
Molecular Syndromology. 10:209-213
Apparently, balanced chromosomal rearrangements usually have no phenotypic consequences for the carrier. However, in some cases, they may be associated with an abnormal phenotype. We report herein the case of a 4-year-old boy presenting with clinical