Zobrazeno 1 - 10
of 11
pro vyhledávání: '"Aurélien, Trimouille"'
Autor:
Benoit Arveiler, Angèle Tingaud-Sequeira, Rachel Stapleton, Didier Lacombe, Estelle Lopez, Aurélien Trimouille, Claudio Plaisant, Manju Salaria, Stéphane Claverol, Marc Bonneu, Caroline Rooryck
Publikováno v:
Human Genetics
Human Genetics, Springer Verlag, 2021, 140 (6), pp.933-944. ⟨10.1007/s00439-021-02255-6⟩
Human Genetics, Springer Verlag, 2021, 140 (6), pp.933-944. ⟨10.1007/s00439-021-02255-6⟩
Goldenhar syndrome or oculo-auriculo-vertebral spectrum (OAVS) is a complex developmental disorder characterized by asymmetric ear anomalies, hemifacial microsomia, ocular and vertebral defects. We aimed at identifying and characterizing a new gene a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3cd08c7a572fca4581a65acdde21fd7a
https://hal.archives-ouvertes.fr/hal-03404245
https://hal.archives-ouvertes.fr/hal-03404245
Autor:
Benoit Arveiler, Eulalie Lasseaux, Nobuyasu Ichinose, Didier Lacombe, Caroline Espil-Taris, Chloé Angelini, Aurélien Trimouille, Thomas Tourdias
Publikováno v:
European Journal of Medical Genetics
European Journal of Medical Genetics, Elsevier, 2021, 64 (4), ⟨10.1016/j.ejmg.2021.104188⟩
European Journal of Medical Genetics, Elsevier, 2021, 64 (4), ⟨10.1016/j.ejmg.2021.104188⟩
Duane retraction syndrome is a congenital eye movement disorder characterized by a failure of abducens nerve to develop normally, resulting in restriction or absence of abduction, adduction, or both, and narrowing of the palpebral fissure and retract
Autor:
Tina Duelund Hjortshøj, Caroline Rooryck, Didier Lacombe, Hanne B Hove, Angèle Tingaud-Sequeira, Sven Kreiborg, Aurélien Trimouille
Publikováno v:
Clinical geneticsREFERENCES. 98(4)
Oculo-Auriculo-Vertebral Spectrum (OAVS) [MIM:164210], or Goldenhar syndrome, is a developmental disorder associating defects of structures derived from the first and second branchial arches. The genetic origin of OAVS is supported by the description
Autor:
Francesca Clementina Radio, Bruno Dallapiccola, Mélanie Fradin, Alessandra Renieri, Alain Verloes, Jill Clayton-Smith, Michael Smith, Bronwyn Kerr, Rasika Sowmyalakshmi, Dorica Dan, Matteo Cassina, Massimiliano Rossi, Marketa Havlovicova, Laurence Faivre, Con Hennessy, Sofia Douzgou, Hany Mina, Siddharth Banka, Rasa Traberg, Aurélien Trimouille, Myfanwy Rawson, Ruta Marcinkute, Elizabeth Alexander, Ann Nordgren, Adela Chirita Emandi, Florence Riccardi, Jason Gavin, Lianne Gompertz
Publikováno v:
Orphanet journal of rare diseases, London : BioMed Central, 2020, vol. 15, no. 1, 103, p. 1-11
Orphanet Journal of Rare Diseases, Vol 15, Iss 1, Pp 1-11 (2020)
Orphanet journal of rare diseases, London : BioMed Central, 2020, vol. 15, no. 1, art. no. 103, p. 1-11
Orphanet Journal of Rare Diseases
ERN ITHACA 2020, ' Telemedicine strategy of the European Reference Network ITHACA for the diagnosis and management of patients with rare developmental disorders ', Orphanet Journal of Rare Diseases, vol. 15, no. 1, pp. 103 . https://doi.org/10.1186/s13023-020-1349-1
Orphanet Journal of Rare Diseases, Vol 15, Iss 1, Pp 1-11 (2020)
Orphanet journal of rare diseases, London : BioMed Central, 2020, vol. 15, no. 1, art. no. 103, p. 1-11
Orphanet Journal of Rare Diseases
ERN ITHACA 2020, ' Telemedicine strategy of the European Reference Network ITHACA for the diagnosis and management of patients with rare developmental disorders ', Orphanet Journal of Rare Diseases, vol. 15, no. 1, pp. 103 . https://doi.org/10.1186/s13023-020-1349-1
Background The European Reference Networks, ERNs, are virtual networks for healthcare providers across Europe to collaborate and share expertise on complex or rare diseases and conditions. As part of the ERNs, the Clinical Patient Management System,
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b3411f799893f04db1f3a2d908be76be
https://repository.vu.lt/VU:ELABAPDB57187165&prefLang=en_US
https://repository.vu.lt/VU:ELABAPDB57187165&prefLang=en_US
Autor:
B. Guichard, E. Weber, P. Hannequin, L. Van Maldergem, Corinne Collet, Geneviève Baujat, Marion Lenoir, G. Godfrin, Elise Schaefer, Aurélien Trimouille, Christelle Cabrol, Didier Lacombe, G. Paternoster, Alice Goldenberg, Sarah Baer, Elise Brischoux-Boucher
Publikováno v:
Clinical Genetics. 94:373-380
By describing 10 new patients recruited in centres for Human Genetics, we further delineate the clinical spectrum of a Crouzon-like craniosynostosis disorder, officially termed craniosynostosis and dental anomalies (MIM614188). Singularly, it is inhe
Autor:
Virginie Raclet, Julien Van-Gils, Eulalie Lasseaux, Thibaut Matis, Benoit Arveiler, Patricia Fergelot, Vincent Michaud, Aurélien Trimouille, Claudio Plaisant
Publikováno v:
The journal of gene medicineREFERENCES. 22(8)
BACKGROUND The development of whole-exome sequencing (WES) and whole-genome sequencing (WGS) for clinical purposes now allows the identification of multiple pathogenic variants in patients with a rare disease. This occurs even when a single causative
Autor:
Vanna Pecile, Didier Lacombe, Antonella Fabretto, Cécile Boucher, Clémence Vanlerberghe, Benoit Arveiler, Emma L. Baple, Nada Houcinat, Kate Robertshaw, Patricia Fergelot, Gemma Poke, Bruno Delobel, Aurélien Trimouille, Colina McKeown, Joris Andrieux, Paolo Gasparini, Bénédicte Duban, Jérôme Toutain, Marco Carrozzi, Mathilde Nizon, Sébastien Moutton, Marie Vincent, Sahar Mansour, Cédric Le Caignec, Caroline Rooryck, Eve Fifield, Marie Laure Vuillaume
Publikováno v:
European Journal of Human Genetics. 26:85-93
Syndromes caused by copy number variations are described as reciprocal when they result from deletions or duplications of the same chromosomal region. When comparing the phenotypes of these syndromes, various clinical features could be described as r
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:
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