Zobrazeno 1 - 10
of 94
pro vyhledávání: '"Dominique, Gaillard"'
Autor:
Nicolas Bourgon, Aurore Garde, Ange-Line Bruel, Mathilde Lefebvre, Frederic Tran Mau-Them, Sebastien Moutton, Arthur Sorlin, Sophie Nambot, Julian Delanne, Martin Chevarin, Charlotte Pöe, Julien Thevenon, Daphné Lehalle, Nolween Jean-Marçais, Paul Kuentz, Laetitia Lambert, Salima El Chehadeh, Elise Schaefer, Marjolaine Willems, Fanny Laffargue, Christine Francannet, Mélanie Fradin, Dominique Gaillard, Sophie Blesson, Alice Goldenberg, Yline Capri, Paul Sagot, Thierry Rousseau, Emmanuel Simon, Christine Binquet, Marie-Laure Ascencio, Yannis Duffourd, Christophe Philippe, Laurence Faivre, Antonio Vitobello, Christel Thauvin-Robinet
Publikováno v:
European Journal of Human Genetics. 30:967-975
Prenatal exome sequencing could be complex because of limited phenotypical data compared to postnatal/portmortem phenotype in fetuses affected by multiple congenital abnormalities (MCA). Here, we investigated limits of prenatal phenotype for ES inter
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7b31117fffc3771efb6e81b39d2db9b0
https://doi.org/10.1038/s41431-022-01117-7
https://doi.org/10.1038/s41431-022-01117-7
Autor:
Uwe Kornak, Martin A. Mensah, Uirá Souto Melo, Robert Schöpflin, Virginie Roze, Manuel Holtgrewe, Malte Spielmann, Emilie Landais, Björn Fischer-Zirnsak, Juliette Piard, Virginie Guigue, Stefan Mundlos, Dominique Gaillard, Francine Arbez-Gindre, Christelle Cabrol, Valérie Kremer, Lionel Van Maldergem, Frederike L. Harms, R. Ramanah, Alain Martin, Marius-Konstantin Klever
Publikováno v:
Human Genetics
During human organogenesis, lung development is a timely and tightly regulated developmental process under the control of a large number of signaling molecules. Understanding how genetic variants can disturb normal lung development causing different
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8042e29d45cb8e59c5738868bff8ecc6
https://doi.org/10.1007/s00439-021-02344-6
https://doi.org/10.1007/s00439-021-02344-6
Autor:
Chunmei Li, Victor L Jensen, Kwangjin Park, Julie Kennedy, Francesc R Garcia-Gonzalo, Marta Romani, Roberta De Mori, Ange-Line Bruel, Dominique Gaillard, Bérénice Doray, Estelle Lopez, Jean-Baptiste Rivière, Laurence Faivre, Christel Thauvin-Robinet, Jeremy F Reiter, Oliver E Blacque, Enza Maria Valente, Michel R Leroux
Publikováno v:
PLoS Biology, Vol 14, Iss 3, p e1002416 (2016)
Cilia have a unique diffusion barrier ("gate") within their proximal region, termed transition zone (TZ), that compartmentalises signalling proteins within the organelle. The TZ is known to harbour two functional modules/complexes (Meckel syndrome [M
Externí odkaz:
https://doaj.org/article/8218a5f05b2d4ec7ac530fd44daeffc4
Autor:
Tania Attié-Bitach, Philippe Jonveaux, Alice Goldenberg, Antonio Vitobello, Nicole Laurent, Marjolaine Willems, Valérie Kremer, Dominique Gaillard, Chloé Quélin, Sebastien Moutton, Marion Aubert-Lenoir, Yannis Duffourd, Anne-Sophie Lebre, Anne-Claire Brehin, James Lespinasse, Yline Capri, Nolwenn Jean-Marçais, Maria Cristina Antal, Frédéric Tran Mau-Them, Nathalie Marle, Daphné Lehalle, Nicolas Bourgon, Sophie Blesson, Bernard Foliguet, Laetita Lambert, Nicole Bigi, Mélanie Fradin, Emilie Tisserant, Christel Thauvin-Robinet, Ange-Line Bruel, Elisabeth Alanio, Marie-Hélène Saint-Frison, Christine Francannet, Anne-Marie Guerrot, Paul Kuentz, Elise Schaefer, Anne-Marie Beaufrere, Sylvie Odent, Francine Arbez-Gindre, Laurence Faivre, Christophe Philippe, Julien Thevenon, Sophie Patrier-Sallebert, Nada Houcinat, Celine Poirisier, Sophie Nambot, Mathilde Lefebvre, Mirna Assoum, Françoise Girard-Lemaitre, Sophie Collardeau-Frachon, Marie-José Perez, Jean-Louis Mandel, Jean-Pierre Mazutti, Renaud Touraine, Philippe Loget, Salima El Chehadeh
Publikováno v:
Journal of Medical Genetics
Journal of Medical Genetics, 2020, pp.jmedgenet-2020-106867. ⟨10.1136/jmedgenet-2020-106867⟩
Journal of Medical Genetics, 2021, 58 (6), pp.400-413. ⟨10.1136/jmedgenet-2020-106867⟩
Journal of Medical Genetics, 2020, pp.jmedgenet-2020-106867. ⟨10.1136/jmedgenet-2020-106867⟩
Journal of Medical Genetics, 2021, 58 (6), pp.400-413. ⟨10.1136/jmedgenet-2020-106867⟩
PurposeMolecular diagnosis based on singleton exome sequencing (sES) is particularly challenging in fetuses with multiple congenital abnormalities (MCA). Indeed, some studies reveal a diagnostic yield of about 20%, far lower than in live birth indivi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::27731c0dabc70d1e161c600bcdf091e3
https://www.hal.inserm.fr/inserm-03231676
https://www.hal.inserm.fr/inserm-03231676
Autor:
Olivier Alibeu, Cécile Jeanpierre, Marc Jeanpierre, Cécile Fourrage, Valérie Malan, Charline Henry, Robert Novo, Frédéric Tores, Vincent Morinière, Madeline Louise Reilly, Marc Bras, Sophie Saunier, Rémi Salomon, Corinne Antignac, Camille Humbert, Lara De Tomasi, Patrick Nitschke, Dominique Gaillard, Laurence Heidet, Marie Gonzales, Christine Pietrement, Jelena Martinovic, Joelle Roume, Christine Bole-Feysot, Elise Schaefer
Publikováno v:
Journal of the American Society of Nephrology. 28:2901-2914
Congenital anomalies of the kidney and urinary tract (CAKUT) occur in three to six of 1000 live births, represent about 20% of the prenatally detected anomalies, and constitute the main cause of CKD in children. These disorders are phenotypically and
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::e0938f1ec2ca48cf4fca2a6ef6d30361
https://doi.org/10.1681/asn.2017010043
https://doi.org/10.1681/asn.2017010043
Autor:
Jean-Charles Picaud, Jean-Pierre Masutti, Catherine Vincent-Delorme, Vanessa da Cruz, Jamal Ghoumid, Baptiste Savey, Tiffany Busa, Veronique Atallah, Lelia Dreyfus, Ziad Assaf, Laurélia Jourdan-Voyen, Jean-Baptiste Mouton, Dominique Gaillard, Arnaud Molin, Cédric Baumann, Laetitia Lambert, Sonia Bouquillon, Abraham Mounzer, Frédérique Dijoud, Renaud Touraine, Elise Leroy-Terquem
Publikováno v:
Archives of disease in childhood. Fetal and neonatal edition
Archives of disease in childhood. Fetal and neonatal edition, 2019, ⟨10.1136/archdischild-2019-317121⟩
Archives of Disease in Childhood. Fetal and Neonatal Edition
Archives of Disease in Childhood. Fetal and Neonatal Edition, 2019, ⟨10.1136/archdischild-2019-317121⟩
Archives of disease in childhood. Fetal and neonatal edition, 2019, ⟨10.1136/archdischild-2019-317121⟩
Archives of Disease in Childhood. Fetal and Neonatal Edition
Archives of Disease in Childhood. Fetal and Neonatal Edition, 2019, ⟨10.1136/archdischild-2019-317121⟩
ObjectiveAlveolar capillary dysplasia (ACD) is one of the causes of pulmonary hypertension. Its diagnosis is histological but new pathogenetic data have emerged. The aim of this study was to describe a French cohort of patients with ACD to improve th
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f2e1cf48884a87bdd996b1501709f480
https://hal.science/hal-02465924
https://hal.science/hal-02465924
Autor:
Martine Doco-Fenzy, Guillaume Jouret, Evan Gouy, Anne-Sophie Lebre, Marta Spodenkiewicz, Céline Poirsier, Dominique Gaillard, Carl Arndt, Marc Labrousse, Clémence Jaquin
Publikováno v:
Otologyneurotology : official publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology. 40(1)
To describe the genetic and phenotypic spectrum of Usher syndrome after 6 years of studies by next-generation sequencing, and propose an up-to-date classification of Usher genes in patients with both visual and hearing impairments suggesting Usher sy
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1f19dd43a31e94d3e7309435720c15ba
https://pubmed.ncbi.nlm.nih.gov/30531642
https://pubmed.ncbi.nlm.nih.gov/30531642
Autor:
Anne Boland, Béatrice Lannes, Jocelyn Laporte, Pascal Sabouraud, Dominique Gaillard, Johann Böhm, Valérie Biancalana, Raphaël Schneider, Jean-François Deleuze, Julie D. Thompson, Xavière Lornage
Publikováno v:
Journal of Neuromuscular Diseases
Journal of Neuromuscular Diseases, 2018, 5 (2), pp.257-260. ⟨10.3233/jnd-170265⟩
Journal of Neuromuscular Diseases, 2018, 5 (2), pp.257-260. ⟨10.3233/jnd-170265⟩
Congenital myopathies are clinically and genetically heterogeneous, and are classified based on typical structural abnormalities on muscle sections. Recessive mutations in the striated muscle preferentially expressed protein kinase (SPEG) were recent
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::14246e962f83c4f42d74d39b802f263f
https://pubmed.ncbi.nlm.nih.gov/29614691
https://pubmed.ncbi.nlm.nih.gov/29614691
Autor:
Xavier Guennoc, Tu Anh Tran, Gilles Grateau, Christophe Bedane, Dominique Gaillard, Isabelle Koné-Paut, Amar Smail, Lilian Alix, Camille Francès, Laurence Cuisset, Pierre Le Blay, Christine Bonnet, Isabelle Touitou, Pierre Duffau, Claire Le Jeunne, Irène Lemelle, Michel Fischbach, Jérôme Stirnemann, M. Grall-Lerosey, Sandrine Morell-Dubois, Valérie Devauchelle-Pensec, Jean-Marie Berthelot, Agnès Duquesne, Pascal Pillet, Benedicte Neven, François Garcier, Laetitia Houx, Anne-Laure Jurquet, Pierre Quartier, Thierry Lequerré, Anne Pagnier, Christophe Richez, Renaud Touraine, Eric Hachulla, Mohamed Hamidou, Pascal Cathébras
Publikováno v:
Arthritis & Rheumatology. 67:3027-3036
OBJECTIVE To determine the type and frequency of musculoskeletal symptoms at onset and during followup of cryopyrin-associated periodic syndromes (CAPS). METHODS We retrospectively recorded the articular and muscular symptoms of patients with CAPS fo
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::00b3fd58acc78f5c7f6eb98f413ed022
https://doi.org/10.1002/art.39292
https://doi.org/10.1002/art.39292
Autor:
A. Mantel, Agnès Linglart, Elli Anagnostou, Brigitte Delemer, Elpis Vlachopapadopoulou, Dominique Gaillard, Anne Rochtus, Jérôme Bouligand, Patrick Hanna, Bruno Francou, Harald Jueppner, Deborah J G Mackay
Publikováno v:
Bone Abstracts.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::2256ed45c782391354135ef3e406b776
https://doi.org/10.1530/boneabs.6.oc2
https://doi.org/10.1530/boneabs.6.oc2