Zobrazeno 1 - 7
of 7
pro vyhledávání: '"Arthur Sorlin"'
Autor:
M. Agopiantz, Bruno Leheup, Pierre Vabres, Arthur Sorlin, Guillaume Gauchotte, Catherine Diligent, Virginie Carmignac, Catherine Malaplate-Armand, Céline Bonnet
Publikováno v:
Journal of gynecology obstetrics and human reproduction. 50(9)
Background The molecular basis of McCune Albright syndrome (MAS) is a recurrent GNAS Postzygotic gain of function sporadic mutation, resulting in a mosaic disease. Most of girls present precocious puberty, caused by the development of recurrent ovari
Autor:
Christel Thauvin-Robinet, Véronique Darmency, Jean-Baptiste Rivière, Arthur Sorlin, Pierre Vabres, Marc Bardou, Frédéric Huet, Nawale Hadouiri, Alexis Arzimanoglou, Laurent Guibaud, Maxime Luu, Laurence Faivre, Virginie Carmignac
Publikováno v:
European Journal of Medical Genetics
European Journal of Medical Genetics, Elsevier, 2020, 63, pp.104036-. ⟨10.1016/j.ejmg.2020.104036⟩
European Journal of Medical Genetics, Elsevier, 2020, 63, pp.104036-. ⟨10.1016/j.ejmg.2020.104036⟩
The MTOR gene encodes the mechanistic target of rapamycin (mTOR), which is a core component of the PI3K-AKT-mTOR signaling pathway. Postzygotic MTOR variants result in various mosaic phenotypes, referred to in OMIM as Smith-Kinsgmore syndrome or foca
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e4db522a15f95c413f148bb45a12ba2a
https://hal.science/hal-03491487
https://hal.science/hal-03491487
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:
Arthur Sorlin, Thomas Cuny, P. Journeau, Georges Weryha, M. Agopiantz, Beatrice Lebon-Labich, Bruno Leheup
Publikováno v:
Annales d'Endocrinologie
Annales d'Endocrinologie, Elsevier Masson, 2016, 77 (1), pp.7-13. ⟨10.1016/j.ando.2016.01.002⟩
Annales d'Endocrinologie, Elsevier Masson, 2016, 77 (1), pp.7-13. ⟨10.1016/j.ando.2016.01.002⟩
International audience; Background: McCune-Albright syndrome is a rare disorder characterized by endocrine disorders, café-au-lait spots and fibrous dysplasia of bone that occurs early in life.Methods: A series of 14 pediatric cases were followed be
Autor:
V. Carmignac, Didier Bessis, Paul Kuentz, Arthur Sorlin, Yannis Duffourd, Laurence Faivre, Veronica A. Kinsler, S.S. Kholmanskikh, F. Faravelli, J.-B. Rivière, Satyamaanasa Polubothu, Pierre Vabres, William B. Dobyns, M. E. Ross
Publikováno v:
Journal of Investigative Dermatology
International Investigative Dermatology (IID) Meeting
International Investigative Dermatology (IID) Meeting, May 2018, Orlando, United States. pp.S135, ⟨10.1016/j.jid.2018.03.804⟩
International Investigative Dermatology (IID) Meeting
International Investigative Dermatology (IID) Meeting, May 2018, Orlando, United States. pp.S135, ⟨10.1016/j.jid.2018.03.804⟩
IF 6.448 (2017); International audience
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7244f70838f8615497aa8fffe7057619
https://hal-univ-bourgogne.archives-ouvertes.fr/hal-01926312
https://hal-univ-bourgogne.archives-ouvertes.fr/hal-01926312
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:
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