Zobrazeno 1 - 10
of 15
pro vyhledávání: '"Jean Benoît Courcet"'
Autor:
Yannis Duffourd, Catherine Sarret, B. Catteau, Rachel G. Knox, Chloé Quélin, Cyril Mignot, Martin Chevarin, P. Callier, Diana Rodriguez, Alexis Arzimanoglou, Robert Olaso, David Geneviève, Arthur Sorlin, Sylvie Odent, Christel Thauvin, Victoria E. R. Parker, Pierre Vabres, Louise Goujon, Malika Keddar, Melissa Riachi, Sylvie Fraitag, Laurence Faivre, Emmanuelle Blanchard, Satyamaanasa Polubothu, Marie-Line Jacquemont, Jean-Baptiste Rivière, Anne Boland, Jean-François Deleuze, Paul Rollier, Véronique Darmency, Marie-Hélène Aubriot-Lorton, Yline Capri, V. Carmignac, Daniel Amram, Catherine Vincent-Delorme, Paul Kuentz, Marc Delepine, Didier Bessis, Robert K. Semple, Sarah Grotto, Veronica A. Kinsler, Laurent Guibaud, Christophe Philippe, Jean-Benoît Courcet
Publikováno v:
Carmignac, V, Mignot, C, Blanchard, E, Kuentz, P, Aubriot-Lorton, M-H, Parker, V E R, Sorlin, A, Fraitag, S, Courcet, J-B, Duffourd, Y, Rodriguez, D, Knox, R G, Polubothu, S, Boland, A, Olaso, R, Delepine, M, Darmency, V, Riachi, M, Quelin, C, Rollier, P, Goujon, L, Grotto, S, Capri, Y, Jacquemont, M-L, Odent, S, Amram, D, Chevarin, M, Vincent-Delorme, C, Catteau, B, Guibaud, L, Arzimanoglou, A, Keddar, M, Sarret, C, Callier, P, Bessis, D, Geneviève, D, Deleuze, J-F, Thauvin, C, Semple, R K, Philippe, C, Rivière, J-B, Kinsler, V A, Faivre, L & Vabres, P 2021, ' Clinical spectrum of MTOR-related hypomelanosis of Ito with neurodevelopmental abnormalities. ', Genetics in Medicine . https://doi.org/10.1038/s41436-021-01161-6
Genetics in Medicine
Genet Med
Genetics in Medicine, 2021, 23 (8), pp.1484-1491. ⟨10.1038/s41436-021-01161-6⟩
Genetics in Medicine
Genet Med
Genetics in Medicine, 2021, 23 (8), pp.1484-1491. ⟨10.1038/s41436-021-01161-6⟩
Hypomelanosis of Ito (HI) is a skin marker of somatic mosaicism. Mosaic MTOR pathogenic variants have been reported in HI with brain overgrowth. We sought to delineate further the pigmentary skin phenotype and clinical spectrum of neurodevelopmental
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::56e9636f25224977f95394e626ab0731
https://www.repository.cam.ac.uk/handle/1810/326616
https://www.repository.cam.ac.uk/handle/1810/326616
Autor:
Catherine Sarret, Satyamaanasa Polubothu, V. Carmignac, Daniel Amram, Anne Boland, Chloé Quélin, Véronique Darmency, Christophe Philippe, Emmanuelle Blanchard, Martin Chevarin, P. Callier, Veronica A. Kinsler, Yannis Duffourd, Robert Olaso, Jean-Baptiste Rivière, Marie-Hélène Aubriot-Lorton, Sylvie Fraitag, Christel Thauvin, Malika Keddar, B. Catteau, Alexis Arzimanoglou, Cyril Mignot, Rachel G. Knox, Didier Bessis, Sarah Grotto, Robert K. Semple, Marie-Line Jacquemont, Arthur Sorlin, Sylvie Odent, David Geneviève, Laurent Guibaud, Melissa Riachi, Yline Capri, Pierre Vabres, Victoria E. R. Parker, Louise Goujon, Jean-Benoît Courcet, Laurence Faivre, Jean-François Deleuze, Paul Rollier, Marc Delepine, Catherine Vincent-Delorme, Paul Kuentz, Diana Rodriguez
Publikováno v:
Genetics in Medicine
Genetics in Medicine, 2021, 23 (8), pp.1585. ⟨10.1038/s41436-021-01217-7⟩
Genetics in Medicine, 2021, 23 (8), pp.1585. ⟨10.1038/s41436-021-01217-7⟩
International audience
Autor:
V. Carmignac, Yannis Duffourd, Geneviève Bernard, Bénédicte Demeer, Didier Bessis, Christel Thauvin, Bernard Devauchelle, Odile Boute, Philippine Garret, Arthur Sorlin, Esther Carmi, Julien Thevenon, Veronica A. Kinsler, Arnaud Lafon, Alain Bron, S.S. Kholmanskikh, Catherine Gondry-Jouet, William B. Dobyns, Guillaume Captier, Paul Kuentz, Pierre Vabres, Jean Benoît Courcet, Laurent Guibaud, David Geneviève, Jean Baptiste Rivière, Satyamaanasa Polubothu, Francesca Faravelli, Judith St-Onge, Laurence Faivre, M. Elizabeth Ross, Michèle Mathieu-Dramard
Publikováno v:
Nature Genetics
Nature Genetics, Nature Publishing Group, 2019, 51 (11), pp.1660-1660. ⟨10.1038/s41588-019-0527-3⟩
Nature Genetics, 2019, 51 (11), pp.1660-1660. ⟨10.1038/s41588-019-0527-3⟩
Nature Genetics, Nature Publishing Group, 2019, 51 (11), pp.1660-1660. ⟨10.1038/s41588-019-0527-3⟩
Nature Genetics, 2019, 51 (11), pp.1660-1660. ⟨10.1038/s41588-019-0527-3⟩
Published Erratum: Correction to: Nature Genetics 51: 1438–1441 https://doi.org/10.1038/s41588-019-0498-4, published online 30 September 2019.In the version of this article initially published, authors Bénédicte Demeer and Bernard Devauchelle wer
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d1ccf4d91539d4b9785cff25c5dce97b
https://hal.archives-ouvertes.fr/hal-02423646
https://hal.archives-ouvertes.fr/hal-02423646
Autor:
William B. Dobyns, J.-B. Rivière, Judith St-Onge, Laurence Faivre, Yannis Duffourd, Pierre Vabres, M. E. Ross, B. Demeer, Geneviève Bernard, Paul Kuentz, Arthur Sorlin, V. Carmignac, Jean-Benoît Courcet, Didier Bessis, S.S. Kholmanskikh
Publikováno v:
Journal of Investigative Dermatology
47th Annual Meeting of the European-Society-for-Dermatological-Research (ESDR)
47th Annual Meeting of the European-Society-for-Dermatological-Research (ESDR), Sep 2017, Salzburg, Australia. Journal of Investigative Dermatology, 137 (10, Supplement 2), pp.S298, 2017, 〈http://www.sciencedirect.com/science/article/pii/S0022202X17321577?via%3Dihub〉. 〈10.1016/j.jid.2017.07.292〉
47th Annual Meeting of the European-Society-for-Dermatological-Research (ESDR), Sep 2017, Salzburg, Australia. pp.S298, ⟨10.1016/j.jid.2017.07.292⟩
47th Annual Meeting of the European-Society-for-Dermatological-Research (ESDR)
47th Annual Meeting of the European-Society-for-Dermatological-Research (ESDR), Sep 2017, Salzburg, Australia. Journal of Investigative Dermatology, 137 (10, Supplement 2), pp.S298, 2017, 〈http://www.sciencedirect.com/science/article/pii/S0022202X17321577?via%3Dihub〉. 〈10.1016/j.jid.2017.07.292〉
47th Annual Meeting of the European-Society-for-Dermatological-Research (ESDR), Sep 2017, Salzburg, Australia. pp.S298, ⟨10.1016/j.jid.2017.07.292⟩
IF 6.287; International audience
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::57c5726cfcd89e0b93623ce6b973dff9
https://hal-univ-bourgogne.archives-ouvertes.fr/hal-01663763
https://hal-univ-bourgogne.archives-ouvertes.fr/hal-01663763
Autor:
Odile Boute, J.-B. Rivière, C. Gondry, Laurence Faivre, Pierre Vabres, S.S. Kholmanskikh, M. E. Ross, B. Devauchelle, B. Demeer, J. St-Onge, David Geneviève, William B. Dobyns, Laurent Guibaud, Julien Thevenon, G. Captier, G. Bernard, E. Carmi, Paul Kuentz, Yannis Duffourd, Alain Bron, Jean-Benoît Courcet, A. Lafon, V. Carmignac, Arthur Sorlin, Didier Bessis
Publikováno v:
Annales de Dermatologie et de Vénéréologie
Annales de Dermatologie et de Vénéréologie, Elsevier Masson, 2017, 144 (12), pp.S95. ⟨10.1016/j.annder.2017.09.103⟩
Journées Dermatologiques de Paris 2017
Journées Dermatologiques de Paris 2017, Dec 2017, Paris, France. pp.S95, ⟨10.1016/j.annder.2017.09.103⟩
Journées Dermatologiques de Paris 2017, Dec 2017, Paris, France. Annales de Dermatologie et de Vénéréologie, 144 (12 Supplement), pp.S95, 2017, Journées Dermatologiques de Paris 2017. 〈https://www.sciencedirect.com/science/article/pii/S0151963817304623〉. 〈10.1016/j.annder.2017.09.103〉
Annales de Dermatologie et de Vénéréologie, Elsevier Masson, 2017, 144 (12), pp.S95. ⟨10.1016/j.annder.2017.09.103⟩
Journées Dermatologiques de Paris 2017
Journées Dermatologiques de Paris 2017, Dec 2017, Paris, France. pp.S95, ⟨10.1016/j.annder.2017.09.103⟩
Journées Dermatologiques de Paris 2017, Dec 2017, Paris, France. Annales de Dermatologie et de Vénéréologie, 144 (12 Supplement), pp.S95, 2017, Journées Dermatologiques de Paris 2017. 〈https://www.sciencedirect.com/science/article/pii/S0151963817304623〉. 〈10.1016/j.annder.2017.09.103〉
National audience; Introduction L’hypomélanose d’Ito est définie par l’association d’une hypopigmentation qui suit les lignes de Blaschko et de manifestations principalement neurologiques. Les autres atteintes associées sont variables. Ell
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5c3c6f523f615d24c1a02ca6e14bac5d
https://hal.inrae.fr/hal-02620220
https://hal.inrae.fr/hal-02620220
Autor:
Christel Thauvin, Marie Hélène Aubriot-Lorton, Nadège Gigot, Nathalie Marle, Bernard Aral, Laurence Duplomb, Alain Sarasin, Julien Thevenon, Valeria Naim, Jean-Baptiste Rivière, Jean Benoît Courcet, Pierre Vabres, Jamal Eddin Abrid, Mariam Tajir, Laurence Faivre, Emilie Courcet-Degrolard, Siham Chafai Elalaoui, Laurent Martin, Abdelaziz Sefiani, Yannis Duffourd
Publikováno v:
European Journal of Human Genetics. 23:957-962
SASH1 (SAM and SH3 domain-containing protein 1) is a tumor suppressor gene involved in the tumorigenesis of a spectrum of solid cancers. Heterozygous SASH1 variants are known to cause autosomal-dominant dyschromatosis. Homozygosity mapping and whole-
Autor:
Nadège Gigot, Valeria Capra, Annick Toutain, Alice Goldenberg, Geneviève Pierquin, Nicole Philip, Odile Boute, S. Gauthier, Mariam Tajir, Yves Sznajer, Muriel Holder-Espinasse, Loreto Martorell, Laurence Faivre, J. Piard, Jean-Benoît Courcet, Christine Francannet, Cédric Baumann, Philippe Parent, Valérie Cormier-Daire, Michael Wright, N. Didonato, Marie-Pierre Cordier, David Geneviève, Didier Bessis, Ana Berta Sousa, Laurent Pasquier, Angela F. Brady, F. Boralevi, Siham Chafai Elalaoui, André Mégarbané, Bernard Aral, Edward Blair, Christine Bodemer, Eve Puzenat, B. Demeer, M. Tardieu, Corinne Collet, V. Barlogis, C. Thauvin-Robinet, Marlène Rio, Christine Coubes, Pierre Vabres, Geneviève Baujat, J. Franques, Patrick Callier, Jean-Baptiste Rivière, María Antonia González-Enseñat, Julien Thevenon, Olga Domnica Moldovan, A. Rodríguez
Publikováno v:
Clinical Genetics. 87:244-251
Three overlapping conditions, namely Rothmund-Thomson (RTS), Baller-Gerold (BGS) and RAPADILINO syndromes, have been attributed to RECQL4 mutations. Differential diagnoses depend on the clinical presentation, but the numbers of known genes remain low
Autor:
M. Elizabeth Ross, Philippine Garret, Jean Benoît Courcet, Guillaume Captier, Francesca Faravelli, Michèle Mathieu-Dramard, Veronica A. Kinsler, Bernard Devauchelle, Bénédicte Demeer, David Geneviève, S.S. Kholmanskikh, Odile Boute, Christel Thauvin, Satyamaanasa Polubothu, Paul Kuentz, Julien Thevenon, Esther Carmi, Arnaud Lafon, William B. Dobyns, Yannis Duffourd, Geneviève Bernard, Judith St-Onge, Laurence Faivre, Jean Baptiste Rivière, Arthur Sorlin, Pierre Vabres, Catherine Gondry-Jouet, Alain Bron, Didier Bessis, V. Carmignac, Laurent Guibaud
Publikováno v:
Nature Genetics
Nature Genetics, Nature Publishing Group, 2019, 51 (10), pp.1438-1441. ⟨10.1038/s41588-019-0498-4⟩
Nature Genetics, 2019, 51 (10), pp.1438-1441. ⟨10.1038/s41588-019-0498-4⟩
Nature genetics
Nature Genetics, Nature Publishing Group, 2019, 51 (10), pp.1438-1441. ⟨10.1038/s41588-019-0498-4⟩
Nature Genetics, 2019, 51 (10), pp.1438-1441. ⟨10.1038/s41588-019-0498-4⟩
Nature genetics
Hypopigmentation along Blaschko’s lines is a hallmark of a poorly defined group of mosaic syndromes whose genetic causes are unknown. Here we show that postzygotic inactivating mutations of RHOA cause a neuroectodermal syndrome combining linear hyp
Autor:
Philippe Koehrer, Cybel Mehawej, Martine Le Merrer, Sylvain Breton, Pierre Quartier, Laurence Faivre, Marion Gérard, Geneviève Baujat, Richard Mouy, Jean-Benoît Courcet, Valérie Cormier-Daire, Isabelle Landru, Morgane Gosselin, Christiane Mousson
Publikováno v:
American Journal of Medical Genetics Part A. 161:3023-3029
Multicentric carpo-tarsal osteolysis (MCTO) with or without nephropathy is a rare osteolysis disorder beginning in early childhood and involving mainly carpal and tarsal bones. Renal disease appears later in life in the majority of cases and evolves
Autor:
Judith St-Onge, Yannis Duffourd, Sandra Whalen, Marjolaine Willems, Anne-Claire Bursztejn, Massimiliano Rossi, Bertrand Isidor, Patrick Edery, Odile Boute, Virginie Carmignac, J. Miquel, Sébastien Barbarot, Daniel Amram, Fanny Morice-Picard, A. Phan, Pierre Vabres, Didier Lacombe, Maryse Bonnière, Jean-Baptiste Rivière, Nadia Bahi-Buisson, Catherine Vincent-Delorme, Thibaud Jouan, Paul Kuentz, Caroline Michot, Renaud Touraine, Jean-Benoît Courcet, Christine Francannet, Marie Vincent, Smail Hadj-Rabia, Valérie Cormier-Daire, Christine Coubes, Cyril Mignot, Nathalie Marle, Jeanne Amiel, Michèle Mathieu-Dramard, Philippe Khau Van Kien, Juliette Mazereeuw-Hautier, Annabel Maruani, Salima El Chehadeh, Geneviève Baujat, Christine Chiaverini, Daphné Lehalle, Arthur Sorlin, Florence Petit, Bruno Delobel, Laurence Faivre, Julien Thevenon, Stéphanie Arpin, Didier Bessis, Damien Haye, David Geneviève, Tania Attié-Bitach, Claire Abasq-Thomas, Jelena Martinovic, Alain Verloes, Christel Thauvin-Robinet, Juliette Albuisson, Marie-Line Jacquemont, Alice Goldenberg, Olivia Boccara, Ludovic Martin
Publikováno v:
Genetics in medicine : official journal of the American College of Medical Genetics. 19(9)
Postzygotic activating mutations of PIK3CA cause a wide range of mosaic disorders collectively referred to as PIK3CA-related overgrowth spectrum (PROS). We describe the diagnostic yield and characteristics of PIK3CA sequencing in PROS. We performed u