Zobrazeno 1 - 10
of 29
pro vyhledávání: '"Patrick, Collignon"'
Autor:
Florence Demurger, Christine Binquet, Muriel Holder, Frédéric Tran Mau-Them, Salima El Chehadeh, Martine Doco-Fenzy, Geneviève Baujat, Delphine Héron, Judith St-Onge, Christophe Philippe, Elodie Gautier, Robert Olaso, Rebecca A. Barnard, Paul Kuentz, François Lecoquierre, Stanislas Lyonnet, Gwenaëlle Collod-Béroud, Dominique Martin-Coignard, Isabelle Missotte, Anne Boland, Cyril Goizet, Laurence Perrin, Valérie Cormier-Daire, Sébastien Moutton, Nadine Hanna, Jean-François Deleuze, Audrey Putoux, Guillaume Jondeau, Sylvie Odent, Doris Lechner, Arnold Munnich, Thibaud Jouan, Aurélia Jacquette, Pierre-Simon Jouk, Martin Chevarin, Virginie Carmignac, Elisabetta Lapi, Alice Goldenberg, Christel Thauvin-Robinet, Sujatha Jagadeesh, P. Callier, Fatma Daoud, Yannis Duffourd, Frédéric Huet, Nathalie Marle, Charlotte Poe, Gipsy Lopez, Cyril Mignot, Florence Petit, Khadija Amarof, Brian J. O'Roak, Caroline Cabret, Fanny Morice-Picard, Jean Baptiste Rivière, Mirna Assoum, Marie Ange Delrue, Julien Thevenon, Laurence Faivre, David Geneviève, Elisabeth Sarrazin, Ange Line Bruel, Pauline Arnaud, Catherine Boileau, Christine Coubes, Didier Lacombe, Laurence Duplomb, Alice Masurel, Patrick Collignon, Antonio Vitobello, Julien Van-Gils, Bruno Leheup, Nolwenn Jean-Marçais
Publikováno v:
Journal of Medical Genetics
Journal of Medical Genetics, BMJ Publishing Group, 2020, 57 (7), pp.466-474. ⟨10.1136/jmedgenet-2019-106425⟩
Journal of Medical Genetics, 2020, 57 (7), pp.466-474. ⟨10.1136/jmedgenet-2019-106425⟩
Journal of Medical Genetics, BMJ Publishing Group, 2020, 57 (7), pp.466-474. ⟨10.1136/jmedgenet-2019-106425⟩
Journal of Medical Genetics, 2020, 57 (7), pp.466-474. ⟨10.1136/jmedgenet-2019-106425⟩
PurposeMarfanoid habitus (MH) combined with intellectual disability (ID) (MHID) is a clinically and genetically heterogeneous presentation. The combination of array CGH and targeted sequencing of genes responsible for Marfan or Lujan–Fryns syndrome
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f07991d9a475dae09e370f2cf8dffb5a
https://pubmed.ncbi.nlm.nih.gov/32277047
https://pubmed.ncbi.nlm.nih.gov/32277047
Autor:
Brigitte Gilbert-Dussardier, Patrick Edery, Flavie Diguet, Géraldine Joly-Hélas, Fanny Morice-Picard, Nicolas Chatron, Jeanne Amiel, Fabienne Prieur, Jérome Toutain, Sandra Whalen, Marine Lebrun, Gwenaël Nadeau, Sylvie Jaillard, Céline Pebrel-Richard, Annabelle Chaussenot, Bénédicte Demeer, Florence Demurger, Sophie Dupuis-Girod, Marianne Till, Nicole Philip, Jacques Puechberty, Laurent Pasquier, Pierre-Antoine Rollat-Farnier, Claire Bardel, Anne-Marie Guerrot, Anne-Claude Tabet, Sylvie Odent, Annick Toutain, Alain Verloes, Jean-Michel Dupont, Christine Coubes, Aziza Lebbar, Yline Capri, Bertrand Isidor, James Lespinasse, Didier Lacombe, Julie Masson, Sophie Blesson, Marine Houlier, Véronique Paquis-Flucklinger, Michèle Mathieu-Dramard, Florence Amblard, Patrick Callier, Jonathan Levy, Chantal Missirian, Véronique Satre, Marie-France Portnoï, Cyril Mignot, Stéphanie Valence, Catherine Sarret, Sébastien Moutton, Françoise Devillard, Alice Masurel-Paulet, Caroline Schluth-Bolard, Patrick Collignon, Jean-Pierre Siffroi, Marie-Pierre Cordier, Renaud Touraine, Marlène Rio, Céline Dupont, Cédric Le Caignec, Damien Sanlaville, Audrey Putoux, Morgane Plutino, Valérie Kremer, Valérie Malan, Martine Doco-Fenzy, Alexandra Afenjar, Caroline Rooryck-Thambo, Massimiliano Rossi, Linda Pons, Gaetan Lesca, Laurence Faivre
Publikováno v:
Journal of Medical Genetics
Journal of Medical Genetics, BMJ Publishing Group, 2019, 56 (8), pp.526-535. ⟨10.1136/jmedgenet-2018-105778⟩
Journal of Medical Genetics, 2019, 56 (8), pp.526-535. ⟨10.1136/jmedgenet-2018-105778⟩
Journal of Medical Genetics, BMJ Publishing Group, 2019, 56 (8), pp.526-535. ⟨10.1136/jmedgenet-2018-105778⟩
Journal of Medical Genetics, 2019, 56 (8), pp.526-535. ⟨10.1136/jmedgenet-2018-105778⟩
BackgroundBalanced chromosomal rearrangements associated with abnormal phenotype are rare events, but may be challenging for genetic counselling, since molecular characterisation of breakpoints is not performed routinely. We used next-generation sequ
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7bfa0d97e8cc1623bbc8d64f06561370
https://hal.archives-ouvertes.fr/hal-02097116
https://hal.archives-ouvertes.fr/hal-02097116
Publikováno v:
SSRN Electronic Journal.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::f5ca47f78568dc0574f9a8dbdcb18644
https://doi.org/10.2139/ssrn.3421555
https://doi.org/10.2139/ssrn.3421555
Autor:
Claire Guissart, Eugénie Mutez, Clarisse Carra-Dalliere, Mathieu Anheim, Danielle Cuntz-Shadfar, Adrian Degardin, Jean-Philippe Villemin, Sabrina Sacconi, Jean-Philippe Azulay, Christine Tranchant, Nicolas Pageot, Michel Koenig, Victoria Gonzalez, Xavier Ayrignac, Cécile Hubsch, Christian Geny, Claude Mignard, Dominique Chretien, Elisabeth Ollagnon, Cecilia Marelli, Cyril Goizet, Raul Juntas Morales, Bertrand Carlander, Lise Larrieu, Laurine Perrin, Mireille Claustres, Ouhaid Lagha-Boukbiza, Patrick Calvas, Anelia Benarrosh, Mathilde Renaud, Souhayla Azakri, Pierre Labauge, Patrick Collignon, Perrine Charles
Publikováno v:
Human Mutation. 37:1340-1353
Next-generation sequencing (NGS) has an established diagnostic value for inherited ataxia. However, the need of a rigorous process of analysis and validation remains challenging. Moreover, copy number variations (CNV) or dynamic expansions of repeate
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::f60325e5870d6593610f7db27844b41c
https://doi.org/10.1002/humu.23063
https://doi.org/10.1002/humu.23063
Autor:
H. Plauchu, Francois Sassolas, F. Arnoult, G. Delorme, Florence Tubach, Sophie Naudion, Guillaume Jondeau, Jacques Ropers, Olivier Milleron, Sylvie Odent, Martine Barthelet, Delphine Detaint, Philippe Aegerter, Nicolas Pangaud, Catherine Boileau, Thomas Edouard, Sophie Dupuis-Girod, Gilbert Habib, Jean-Eric Wolf, David Attias, Laurence Faivre, Adeline Basquin, Patrick Collignon, Yves Dulac, Julie Thomas-Chabaneix
Publikováno v:
European Heart Journal
European Heart Journal, Oxford University Press (OUP): Policy B, 2015, 36 (32), pp.2160--2166. ⟨10.1093/eurheartj/ehv151⟩
European Heart Journal, 2015, 36 (32), pp.2160--2166. ⟨10.1093/eurheartj/ehv151⟩
European Heart Journal, Oxford University Press (OUP): Policy B, 2015, 36 (32), pp.2160--2166. ⟨10.1093/eurheartj/ehv151⟩
European Heart Journal, 2015, 36 (32), pp.2160--2166. ⟨10.1093/eurheartj/ehv151⟩
AIMS: To evaluate the benefit of adding Losartan to baseline therapy in patients with Marfan syndrome (MFS). METHODS AND RESULTS: A double-blind, randomized, multi-centre, placebo-controlled, add on trial comparing Losartan (50 mg when \textless50 kg
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::83d14e142be409feaf36780e80b55389
https://doi.org/10.1093/eurheartj/ehv151
https://doi.org/10.1093/eurheartj/ehv151
Autor:
Patrick Collignon
Coincés entre contraintes diverses, emploi du temps surchargé et exigences intérieures, nous nous imposons une pression considérable. Le stress nous apparaît comme le facteur majeur de notre mal-être, l'ennemi à éradiquer, surtout s'il devien
Enfin libre d'être moi : Besoin de reconnaissance et peur du regard de l'autre : j'ai passé le cap !
Autor:
Patrick Collignon
Vous reconnaissez-vous dans les situations suivantes (honnêtement)? Une critique de sa boss, de sa meilleure amie ou de son fiancé et Emma nage en pleine anxiété. Emmanuel est parfait : gendre, mari et salarié idéal, il se coupe en quatre pour
Autor:
Jean-Michael Mazzella, Patrick Collignon, Xavier Jeunemaitre, Anne Legrand, Michael M. Frank, Maud Langeois, Juliette Albuisson
Publikováno v:
Clinical genetics. 91(3)
Syndromic thoracic aortic aneurysm and dissection (TAAD) can suggest Marfan, vascular Ehlers-Danlos or Loeys-Dietz (LDS) syndromes. Several of the TGFβ-pathway-related genes predispose to different types of LDS. Heterozygous loss-of-function variati
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fa8490b82b79f418066cfba2e0cc70dc
https://pubmed.ncbi.nlm.nih.gov/27440102
https://pubmed.ncbi.nlm.nih.gov/27440102
Autor:
Patrick Collignon, L. Joly, Bruno Leheup, Elodie Gautier, T. Rousseau, Christine Binquet, M.-A. Delrue, Jean-Eric Wolf, Yves Dulac, Frédéric Huet, C. Cassini, G. Mace, Nadine Hanna, Catherine Boileau, Christel Thauvin-Robinet, Laurent Gouya, Sylvie Odent, Julien Thevenon, Paul Sagot, Guillaume Jondeau, Laurence Faivre, H. Plauchu, V. Cusin, Fanny Coron
Publikováno v:
Prenatal Diagnosis. 32:1318-1323
Objectives Marfan syndrome (MFS) is an autosomal dominant connective tissue disorder with manifestations mainly involving the skeletal, ocular, and cardiovascular systems. The phenotypic variability observed in MFS makes genetic counselling difficult
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::0ef761a5153db1f1716ad181ee67753d
https://doi.org/10.1002/pd.4008
https://doi.org/10.1002/pd.4008
Autor:
Jérôme Perdu, Kim-Thanh Ong, Anne De Paepe, G. Georgesco, Pierre Boutouyrie, Jean-Sébastien Hulot, Anne-Laure Fauret, Patrick Collignon, Joseph Emmerich, Jean Noel Fiessinger, Henri Plauchu, Erwan Bozec, Dominique P. Germain, Julie De Backer, Stéphane Laurent, Xavier Jeunemaitre
Publikováno v:
The Lancet. 376:1476-1484
Summary Background Vascular Ehlers-Danlos syndrome is a rare severe disease that causes arterial dissections and ruptures that can lead to early death. No preventive treatment has yet been validated. Our aim was to assess the ability of celiprolol, a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9f7f6e09ed72d814d590a1ef644e4e52
https://doi.org/10.1016/s0140-6736(10)60960-9
https://doi.org/10.1016/s0140-6736(10)60960-9