Zobrazeno 41 - 49
of 49
pro vyhledávání: '"Aurélien, Trimouille"'
Autor:
Paola Francesca Ajmone, Maria Luisa Poch-Olive, Jens Erik Klint Nielsen, Christiane Zweier, Giovanni Sorge, Marzia Pollazzon, Bert Callewaert, Jeroen Breckpot, Olivera Djuric, Chiara Baldo, Rikke S. Møller, Isabella Mammi, Livia Garavelli, Gioacchino Scarano, Baris Malbora, Alessandro Iodice, Lucio Giordano, Marina Grasso, Alessandro Pellicciari, Marcella Zollino, Daniele De Brasi, Aurélien Trimouille, Ebtesam M. Abdalla, Samantha A. Schrier Vergano, Ina Schanze, Sébastien Moutton, Anna Kutkowska-Kazmierczak, Agata Fiumara, Andrea Conidi, Emilia Ricci, Duccio Maria Cordelli, Roberta Epifanio, Allan Bayat, Federico Bonvicini, Magdalena Badura-Stronka, Lorenzo Iughetti, Tina Duelund Hjortshøj, Anita Rauch, Vladimir Kuburovic, Giulia Montorsi, Elvis rci Te Valera, Debora Formisano, Stefano Giuseppe Caraffi, Krzysztof Szczaluba, Daniela Santodirocco, Sabine Grønborg, Francesca Faravelli, Maria Antonietta Pisanti, Didier Lacombe, Gijs W. E. Santen, Margherita Silengo, Ivan Ivanovski, Luis G. Tone, Goran Cuturilo, Francesca Mari, Guido Cocchi, Margaret P. Adam, Simonetta Rosato, Chiara Pantaleoni, Patrizia Accorsi, Nicoletta Zanotta, Ewa Obersztyn, Maddalena Baldi, Angelo Selicorni, Alessandra Renieri, Annick Toutain, Mary Beth Dinulos, Petra Muschke, Luigina Spaccini, Luigi Tarani, Igor Prpić, Francesca Rivieri, Koenraad Devriendt, Stefania Bigoni, Robert Smigiel, Anna Luchetti, Federico Raviglione, Martin Zenker, Caterina Lo Rizzo, Salvatore Savasta
Publikováno v:
Genetics in Medicine, 20(9), 965-975. Lippincott Williams & Wilkins
Ivanovski, I, Djuric, O, Caraffi, S G, Santodirocco, D, Pollazzon, M, Rosato, S, Cordelli, D M, Abdalla, E, Accorsi, P, Adam, M P, Ajmone, P F, Badura-Stronka, M, Baldo, C, Baldi, M, Bayat, A, Bigoni, S, Bonvicini, F, Breckpot, J, Callewaert, B, Cocchi, G, Cuturilo, G, De Brasi, D, Devriendt, K, Dinulos, M B, Hjortshøj, T D, Epifanio, R, Faravelli, F, Fiumara, A, Formisano, D, Giordano, L, Grasso, M, Grønborg, S, Iodice, A, Iughetti, L, Kuburovic, V, Kutkowska-Kazmierczak, A, Lacombe, D, Lo Rizzo, C, Luchetti, A, Malbora, B, Mammi, I, Mari, F, Montorsi, G, Moutton, S, Møller, R S, Muschke, P, Nielsen, J E K, Obersztyn, E, Pantaleoni, C & Pellicciari, A 2018, ' Phenotype and genotype of 87 patients with Mowat-Wilson syndrome and recommendations for care ', Genetics in Medicine, vol. 20, no. 9, pp. 965-975 . https://doi.org/10.1038/gim.2017.221
Genetics in Medicine
GENETICS IN MEDICINE
Ivanovski, I, Djuric, O, Caraffi, S G, Santodirocco, D, Pollazzon, M, Rosato, S, Cordelli, D M, Abdalla, E, Accorsi, P, Adam, M P, Ajmone, P F, Badura-Stronka, M, Baldo, C, Baldi, M, Bayat, A, Bigoni, S, Bonvicini, F, Breckpot, J, Callewaert, B, Cocchi, G, Cuturilo, G, De Brasi, D, Devriendt, K, Dinulos, M B, Hjortshøj, T D, Epifanio, R, Faravelli, F, Fiumara, A, Formisano, D, Giordano, L, Grasso, M, Grønborg, S, Iodice, A, Iughetti, L, Kuburovic, V, Kutkowska-Kazmierczak, A, Lacombe, D, Lo Rizzo, C, Luchetti, A, Malbora, B, Mammi, I, Mari, F, Montorsi, G, Moutton, S, Møller, R S, Muschke, P, Nielsen, J E K, Obersztyn, E, Pantaleoni, C, Pellicciari, A, Pisanti, M A, Prpic, I, Poch-Olive, M L, Raviglione, F, Renieri, A, Ricci, E, Rivieri, F, Santen, G W, Savasta, S, Scarano, G, Schanze, I, Selicorni, A, Silengo, M, Smigiel, R, Spaccini, L, Sorge, G, Szczaluba, K, Tarani, L, Tone, L G, Toutain, A, Trimouille, A, Valera, E T, Vergano, S S, Zanotta, N, Zenker, M, Conidi, A, Zollino, M, Rauch, A, Zweier, C & Garavelli, L 2018, ' Phenotype and genotype of 87 patients with Mowat-Wilson syndrome and recommendations for care ', Genetics In Medicine, vol. 20, no. 9, pp. 965-975 . https://doi.org/10.1038/gim.2017.221
Volume 20
Issue 9
Ivanovski, I, Djuric, O, Caraffi, S G, Santodirocco, D, Pollazzon, M, Rosato, S, Cordelli, D M, Abdalla, E, Accorsi, P, Adam, M P, Ajmone, P F, Badura-Stronka, M, Baldo, C, Baldi, M, Bayat, A, Bigoni, S, Bonvicini, F, Breckpot, J, Callewaert, B, Cocchi, G, Cuturilo, G, De Brasi, D, Devriendt, K, Dinulos, M B, Hjortshøj, T D, Epifanio, R, Faravelli, F, Fiumara, A, Formisano, D, Giordano, L, Grasso, M, Grønborg, S, Iodice, A, Iughetti, L, Kuburovic, V, Kutkowska-Kazmierczak, A, Lacombe, D, Lo Rizzo, C, Luchetti, A, Malbora, B, Mammi, I, Mari, F, Montorsi, G, Moutton, S, Møller, R S, Muschke, P, Nielsen, J E K, Obersztyn, E, Pantaleoni, C & Pellicciari, A 2018, ' Phenotype and genotype of 87 patients with Mowat-Wilson syndrome and recommendations for care ', Genetics in Medicine, vol. 20, no. 9, pp. 965-975 . https://doi.org/10.1038/gim.2017.221
Genetics in Medicine
GENETICS IN MEDICINE
Ivanovski, I, Djuric, O, Caraffi, S G, Santodirocco, D, Pollazzon, M, Rosato, S, Cordelli, D M, Abdalla, E, Accorsi, P, Adam, M P, Ajmone, P F, Badura-Stronka, M, Baldo, C, Baldi, M, Bayat, A, Bigoni, S, Bonvicini, F, Breckpot, J, Callewaert, B, Cocchi, G, Cuturilo, G, De Brasi, D, Devriendt, K, Dinulos, M B, Hjortshøj, T D, Epifanio, R, Faravelli, F, Fiumara, A, Formisano, D, Giordano, L, Grasso, M, Grønborg, S, Iodice, A, Iughetti, L, Kuburovic, V, Kutkowska-Kazmierczak, A, Lacombe, D, Lo Rizzo, C, Luchetti, A, Malbora, B, Mammi, I, Mari, F, Montorsi, G, Moutton, S, Møller, R S, Muschke, P, Nielsen, J E K, Obersztyn, E, Pantaleoni, C, Pellicciari, A, Pisanti, M A, Prpic, I, Poch-Olive, M L, Raviglione, F, Renieri, A, Ricci, E, Rivieri, F, Santen, G W, Savasta, S, Scarano, G, Schanze, I, Selicorni, A, Silengo, M, Smigiel, R, Spaccini, L, Sorge, G, Szczaluba, K, Tarani, L, Tone, L G, Toutain, A, Trimouille, A, Valera, E T, Vergano, S S, Zanotta, N, Zenker, M, Conidi, A, Zollino, M, Rauch, A, Zweier, C & Garavelli, L 2018, ' Phenotype and genotype of 87 patients with Mowat-Wilson syndrome and recommendations for care ', Genetics In Medicine, vol. 20, no. 9, pp. 965-975 . https://doi.org/10.1038/gim.2017.221
Volume 20
Issue 9
PurposeMowat-Wilson syndrome (MWS) is a rare intellectual disability/multiple congenital anomalies syndrome caused by heterozygous mutation of the ZEB2 gene. It is generally underestimated because its rarity and phenotypic variability sometimes make
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::594a350d1254cd94b377a69599bd8301
https://pure.eur.nl/en/publications/4b4c8f16-695b-49be-91d2-48752f3de9da
https://pure.eur.nl/en/publications/4b4c8f16-695b-49be-91d2-48752f3de9da
Autor:
Chloé Angelini, Didier Lacombe, Julien Van Gils, Pierre-Simon Jouk, Cyril Goizet, Marie Vincent, Florence Riant, Sébastien Moutton, Patrice Menegon, Guilhem Solé, Aurélien Trimouille, Elisabeth Tournier-Lasserve, Antoine Bigourdan
Publikováno v:
European Journal of Medical Genetics
European Journal of Medical Genetics, Elsevier, In press, ⟨10.1016/j.ejmg.2018.08.011⟩
European Journal of Medical Genetics, Elsevier, In press, ⟨10.1016/j.ejmg.2018.08.011⟩
IF 2.004 (2017); International audience; The CACNA1A gene encodes a calcium-dependent voltage channel, localized in neuronal cells. Pathogenic variants in this gene are known to lead to a broad clinical spectrum including episodic ataxia type 2, spin
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5212d553d86a095f53c02974f3874556
https://hal-univ-bourgogne.archives-ouvertes.fr/hal-01952641
https://hal-univ-bourgogne.archives-ouvertes.fr/hal-01952641
Autor:
Didier Lacombe, Eulalie Lasseaux, Antoine Bertolotti, Claudio Plaisant, Caroline Rooryck, Benoit Arveiler, Fanny Morice-Picard, Aurélien Trimouille, Pierre Couppié
Publikováno v:
Pigment Cell & Melanoma Research. 29:104-106
Autor:
Manuela Napoli, Isabella Mammi, Jeroen Breckpot, Stefano Giuseppe Caraffi, Gioacchino Scarano, Rikke S. Møller, Ebtesam M. Abdalla, Samantha A. Schrier Vergano, Daniela Santodirocco, Sébastien Moutton, Didier Lacombe, Aurélien Trimouille, Maria Luisa Poch-Olive, Chiara Pantaleoni, Roberta Epifanio, Allan Bayat, Massimo Maggi, Margaret P. Adam, Alessandro Iodice, Francesca Faravelli, Livia Garavelli, William B. Dobyns, Patrizia Accorsi, Olivera Djuric, Francesca Rivieri, Nicoletta Zanotta, Elvis Terci Valera, Alex R. Paciorkowski, Debora Formisano, Marina Grasso, Marzia Pollazzon, Koenraad Devriendt, Rosario Pascarella, Giovanni Sorge, Bert Callewaert, Alessandro Pellicciari, Petra Muschke, Luigi Tarani, Chiara Baldo, Luis G. Tone, Sabine Grønborg, Guido Cocchi, Federico Raviglione, Carmela Russo, Lorenzo Iughetti, Angelo Selicorni, Federico Bonvicini, Lucio Giordano, Duccio Maria Cordelli, Salvatore Savasta, Baris Malbora, Margherita Silengo, Ivan Ivanovski, Elga Fabia Belligni, Goran Cuturilo, Marcella Zollino, Annick Toutain, Mary Beth Dinulos
Publikováno v:
Repositório Institucional da USP (Biblioteca Digital da Produção Intelectual)
Universidade de São Paulo (USP)
instacron:USP
Genetics in Medicine
Garavelli, L, Ivanovski, I, Caraffi, S G, Santodirocco, D, Pollazzon, M, Cordelli, D M, Abdalla, E, Accorsi, P, Adam, M P, Baldo, C, Bayat, A, Belligni, E, Bonvicini, F, Breckpot, J, Callewaert, B, Cocchi, G, Cuturilo, G, Devriendt, K, Dinulos, M B, Djuric, O, Epifanio, R, Faravelli, F, Formisano, D, Giordano, L, Grasso, M, Grønborg, S, Iodice, A, Iughetti, L, Lacombe, D, Maggi, M, Malbora, B, Mammi, I, Moutton, S, Møller, R S, Muschke, P, Napoli, M, Pantaleoni, C, Pascarella, R, Pellicciari, A, Poch-Olive, M L, Raviglione, F, Rivieri, F, Russo, C, Savasta, S, Scarano, G, Selicorni, A, Silengo, M, Sorge, G, Tarani, L, Tone, L G, Toutain, A, Trimouille, A, Valera, E T, Vergano, S S, Zanotta, N, Zollino, M, Dobyns, W B & Paciorkowski, A R 2017, ' Neuroimaging findings in Mowat-Wilson syndrome : a study of 54 patients ', Genetics in Medicine, vol. 19, no. 6, pp. 691-700 . https://doi.org/10.1038/gim.2016.176
GENETICS IN MEDICINE
Universidade de São Paulo (USP)
instacron:USP
Genetics in Medicine
Garavelli, L, Ivanovski, I, Caraffi, S G, Santodirocco, D, Pollazzon, M, Cordelli, D M, Abdalla, E, Accorsi, P, Adam, M P, Baldo, C, Bayat, A, Belligni, E, Bonvicini, F, Breckpot, J, Callewaert, B, Cocchi, G, Cuturilo, G, Devriendt, K, Dinulos, M B, Djuric, O, Epifanio, R, Faravelli, F, Formisano, D, Giordano, L, Grasso, M, Grønborg, S, Iodice, A, Iughetti, L, Lacombe, D, Maggi, M, Malbora, B, Mammi, I, Moutton, S, Møller, R S, Muschke, P, Napoli, M, Pantaleoni, C, Pascarella, R, Pellicciari, A, Poch-Olive, M L, Raviglione, F, Rivieri, F, Russo, C, Savasta, S, Scarano, G, Selicorni, A, Silengo, M, Sorge, G, Tarani, L, Tone, L G, Toutain, A, Trimouille, A, Valera, E T, Vergano, S S, Zanotta, N, Zollino, M, Dobyns, W B & Paciorkowski, A R 2017, ' Neuroimaging findings in Mowat-Wilson syndrome : a study of 54 patients ', Genetics in Medicine, vol. 19, no. 6, pp. 691-700 . https://doi.org/10.1038/gim.2016.176
GENETICS IN MEDICINE
PURPOSE: Mowat-Wilson syndrome (MWS) is a genetic disease characterized by distinctive facial features, moderate to severe intellectual disability, and congenital malformations, including Hirschsprung disease, genital and eye anomalies, and congenita
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::09aa20cba34a99332db2a2bec15c152e
https://lirias.kuleuven.be/handle/123456789/556415
https://lirias.kuleuven.be/handle/123456789/556415
Autor:
Aurélien Trimouille, Julie Bouron, Perrine Pennamen, Didier Lacombe, Benoit Arveiler, Gwenaelle André, Caroline Rooryck-Thambo, Patricia Fergelot, Angèle Tingaud-Sequeira
Publikováno v:
Morphologie. 102:141
Introduction/Objectifs L’etude de l’architecture tridimensionnelle de la chromatine par la technologie de Hi-C, derivee de la Chromosome Conformation Capture (3C), a mis en lumiere l’existence de domaines chromatiniens denommes topologically as
Autor:
Elissavet Konstantelou, Julien Masliah-Planchon, Florence Renaldo, Odile Boespflug-Tanguy, Cécile Pagan, Anne-Claude Tabet, George Vartzelis, Christina Kotsogianni, Céline Dupont, Eleonore Eymard-Pierre, Aurélien Trimouille, Mathilde Gay-Bellile, Séverine Drunat, Imen Dorboz, Monique Elmaleh, Samuel Quentin
Publikováno v:
BMC Medical Genetics
BMC Medical Genetics, BioMed Central, 2015, 16 (1), pp.77. ⟨10.1186/s12881-015-0226-6⟩
BMC Medical Genetics, BioMed Central, 2015, 16 (1), pp.77. ⟨10.1186/s12881-015-0226-6⟩
International audience; AbstractBackgroundPelizaeus-Merzbacher disease (PMD) is an X-linked dysmyelinating disorder characterized by nystagmus, hypotonia, ataxia, progressive spasticity, and cognitive decline. PMD classically results from a duplicati
Autor:
Aurélien Trimouille, J. Bouron, Patricia Fergelot, Jean-Christophe Bernhard, E. Barouk-Simonet, Caroline Rooryck, Didier Lacombe, Sabine Charron
Publikováno v:
Clinical Genetics. 92:449-450
Autor:
Nehla Ghedira, Nathalie Pouvreau, Yline Capri, Odile Fenneteau, Joelle Roume, Aurélie Caye, Bérénice Doray, Laurence Perrin, Odile Boute, Natacha Fillot, Aurélien Trimouille, Cédric Vignal, Yves Alembik, Patricia Blanchet, Valérie Drouin-Garraud, Bertrand Isidor, Marlène Rio, Marion Gérard, Jean-Luc Alessandri, Annick Toutain, Alain Verloes, Albert David, Hélène Cavé, Anne Dieux Coeslier, Clarisse Baumann, Olivier Dulac, Delphine Héron, Sylvie Sauvion, Catherine Vincent-Delorme, Stanislas Lyonnet, Marjorie Willems, Patrice Bouvagnet, Didier Lacombe
Publikováno v:
European journal of human genetics : EJHG. 24(8)
Noonan syndrome is a heterogeneous autosomal dominant disorder caused by mutations in at least eight genes involved in the RAS/MAPK signaling pathway. Recently, RIT1 (Ras-like without CAAX 1) has been shown to be involved in the pathogenesis of some
Autor:
Rucheton B; DMU BioGeM, AP-HP Sorbonne Université, Hôpitaux universitaires Pitié-Salpêtrière-Charles-Foix, Service de Biochimie métabolique, Paris, France., Ader F; DMU BioGeM, AP-HP Sorbonne Université, Hôpitaux universitaires Pitié-Salpêtrière-Charles-Foix, Service de Biochimie métabolique, Paris, France., Goudenege D; Département de biochimie et génétique, MitoLab, UMR CNRS 6015-Inserm U1083, Université et CHU d'Angers, Angers, France., Filaut S; DMU BioGeM, AP-HP Sorbonne Université, Hôpitaux universitaires Pitié-Salpêtrière-Charles-Foix, Service de Biochimie métabolique, Paris, France., Legrand L; DMU BioGeM, AP-HP Sorbonne Université, Hôpitaux universitaires Pitié-Salpêtrière-Charles-Foix, Service de Biochimie métabolique, Paris, France., Bloch A; DMU BioGeM, AP-HP Sorbonne Université, Hôpitaux universitaires Pitié-Salpêtrière-Charles-Foix, Service de Biochimie métabolique, Paris, France., MitoDiag R; MitoDiag : The National Network of Diagnostic Laboratories for Mitochondrial Diseases includes: Pascal Reynier (CHU Angers), Patrizia Amati-Bonneau (CHU Angers), Céline Bris (CHU Angers), Vincent Procaccio (CHU Angers), Alice Choury (CHU Angers), Valérie Desquiret-Dumas (CHU Angers), Naig Gueguen (CHU Angers), David Goudenege (CHU Angers), Marie-Laure Martin-Negrier (CHU Pellegrin, Bordeaux), Aurélien Trimouille (CHU Pellegrin, Bordeaux), Stéphane Allouche (CHU Caen), Gaëlle Hardy (CHU Grenoble) Claire-Marie Dhaenens (CHU Lille), Aurore Davos (CHU Lille), Cécile Acquaviva-Bourdain (CHU Lyon), Cécile Pagan (CHU Lyon), Sophie Vasseur (CHU Lyon), Samira Ait-el-Mkadem Saadi (CHU Nice), Sylvie Bannwarth (CHU Nice), Annabelle Chaussenot (CHU Nice), Konstantina Fragaki (CHU Nice),Véronique Paquis-Flucklinger (CHU Nice), Cécile Rouzier (CHU Nice), Pauline Gaignard (CHU Bicêtre), Giulia Barcia (CHU Necker), Jean-Paul Bonnefont (CHU Necker), Julie Steffann (CHU Necker), Anne Sophie Lebre (CHU REIMS)., Fressart V; DMU BioGeM, AP-HP Sorbonne Université, Hôpitaux universitaires Pitié-Salpêtrière-Charles-Foix, Service de Biochimie métabolique, Paris, France., Bonnefont-Rousselot D; DMU BioGeM, AP-HP Sorbonne Université, Hôpitaux universitaires Pitié-Salpêtrière-Charles-Foix, Service de Biochimie métabolique, Paris, France, Université de Paris, UTCBS, CNRS, Inserm, Paris, France., Mochel F; DMU BioGeM, AP-HP, Sorbonne Université, Département de génétique, Hôpitaux universitaires Pitié-Salpêtrière-Charles-Foix, Paris, France., Lamari F; DMU BioGeM, AP-HP Sorbonne Université, Hôpitaux universitaires Pitié-Salpêtrière-Charles-Foix, Service de Biochimie métabolique, Paris, France., Richard P; DMU BioGeM, AP-HP Sorbonne Université, Hôpitaux universitaires Pitié-Salpêtrière-Charles-Foix, Service de Biochimie métabolique, Paris, France., Procaccio V; Département de biochimie et génétique, MitoLab, UMR CNRS 6015-Inserm U1083, Université et CHU d'Angers, Angers, France., Bannwarth S; Département de génétique médicale, Centre de référence des maladies mitochondriales, CHU de Nice, Inserm U1081, CNRS UMR7284, IRCAN, Université Côte d'Azur, Nice, France.
Publikováno v:
Annales de biologie clinique [Ann Biol Clin (Paris)] 2021 Feb 01; Vol. 79 (1), pp. 28-40.