Zobrazeno 1 - 4
of 4
pro vyhledávání: '"MESH: Hirschsprung Disease"'
Autor:
Philippe Pérot, Hans D. Ochs, Bénédicte Neven, David Buchbinder, Jasjit Singh, Christine Bodemer, E.V. Deripapa, Louise E. Vaz, Despina Moshous, Fabian Hauck, Kathleen E. Sullivan, Christoph Klein, Anna Shcherbina, Michael H. Albert, Shahrzad Bakhtiar, Felipe Suarez, Anita Rack, Diane J. Nugent, Francisco A. Bonilla, Marc Eloit, Alfons Krol, Ludmila Perelygina, Mikko Seppänen
Publikováno v:
Journal of Clinical Immunology
Journal of Clinical Immunology, 2019, 39 (1), pp.81-89. ⟨10.1007/s10875-018-0581-0⟩
J Clin Immunol
Journal of Clinical Immunology, Springer Verlag, 2019, 39 (1), pp.81-89. ⟨10.1007/s10875-018-0581-0⟩
Journal of Clinical Immunology, 2019, 39 (1), pp.81-89. ⟨10.1007/s10875-018-0581-0⟩
J Clin Immunol
Journal of Clinical Immunology, Springer Verlag, 2019, 39 (1), pp.81-89. ⟨10.1007/s10875-018-0581-0⟩
International audience; The association of immunodeficiency-related vaccine-derived rubella virus (iVDRV) with cutaneous and visceral granulomatous disease has been reported in patients with primary immunodeficiency disorders (PIDs). The majority of
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5ef272ce9bd72e6295c2cb501554a6f4
http://hdl.handle.net/10138/299978
http://hdl.handle.net/10138/299978
Autor:
Hélène Dollfus, Andrew S. McCallion, Philip L. Beales, Nicholas Katsanis, Heather C. Etchevers, Anna Pelet, David M. McGaughey, Tania Attié-Bitach, Arnold Munnich, Jeanne Amiel, Clarisse Baumann, Jose L. Badano, Stanislas Lyonnet, Cecilia Gascue, Norann A. Zaghloul, Sophie Thomas, Candice Babarit, Loïc de Pontual, Seneca L. Bessling, Erica E. Davis
Publikováno v:
Proceedings of the National Academy of Sciences of the United States of America
Proceedings of the National Academy of Sciences of the United States of America, National Academy of Sciences, 2009, 106 (33), pp.13921-6. 〈10.1073/pnas.0901219106〉
Proceedings of the National Academy of Sciences; Vol 106
Proceedings of the National Academy of Sciences of the United States of America, National Academy of Sciences, 2009, 106 (33), pp.13921-6. ⟨10.1073/pnas.0901219106⟩
Proceedings of the National Academy of Sciences of the United States of America, National Academy of Sciences, 2009, 106 (33), pp.13921-6. 〈10.1073/pnas.0901219106〉
Proceedings of the National Academy of Sciences; Vol 106
Proceedings of the National Academy of Sciences of the United States of America, National Academy of Sciences, 2009, 106 (33), pp.13921-6. ⟨10.1073/pnas.0901219106⟩
Hirschsprung disease (HSCR) is a common, multigenic neurocristopathy characterized by incomplete innervation along a variable length of the gut. The pivotal gene in isolated HSCR cases, either sporadic or familial, is RET . HSCR also presents in vari
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9d50a9b884888df2ccddb1dc2e9970df
https://hal-riip.archives-ouvertes.fr/pasteur-00604838/file/de_Pontual_et_al_2009.pdf
https://hal-riip.archives-ouvertes.fr/pasteur-00604838/file/de_Pontual_et_al_2009.pdf
Publikováno v:
Neurogastroenterology & Motility
Neurogastroenterology & Motility, 2009, 21 (2), pp.207-14. ⟨10.1111/j.1365-2982.2008.01187.x⟩
Neurogastroenterology & Motility, Wiley, 2009, 21 (2), pp.207-14. ⟨10.1111/j.1365-2982.2008.01187.x⟩
Neurogastroenterology & Motility, 2009, 21 (2), pp.207-14. ⟨10.1111/j.1365-2982.2008.01187.x⟩
Neurogastroenterology & Motility, Wiley, 2009, 21 (2), pp.207-14. ⟨10.1111/j.1365-2982.2008.01187.x⟩
International audience; The aim of this study was to examine mitogen-activated protein kinase (ERK1/2) activation in the human neonatal colonic enteric nervous system. For this, we investigated by immunocytochemistry the cellular localization of phos
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b0fdeb745f7f310f8e0a460fa6b5646f
https://www.hal.inserm.fr/inserm-00323864/file/RouleauNMO2008.pdf
https://www.hal.inserm.fr/inserm-00323864/file/RouleauNMO2008.pdf
Autor:
Zhao-Qi Wang, Cecilia Evangelisti, M. F. Lavoue, Valerio Conti, Luo Yin, Wei-Min Tong, Gérard Morel, Nathalie Forey, Mireille Raccurt, Elena Bonora, Giovanni Romeo, Lily C. Wang, Serge Manié, Jean Jacques Médard, Aldamaria Puliti
Publikováno v:
International Journal of Cancer
International Journal of Cancer, Wiley, 2007, 121 (2), pp.292-300. ⟨10.1002/ijc.22378⟩
International Journal of Cancer, Wiley, 2007, 121 (2), pp.292-300. ⟨10.1002/ijc.22378⟩
International audience; Germline RET mutations are responsible for different inherited disorders: Hirschsprung disease (congenital aganglionic megacolon), caused by loss of function mutations, familial medullary thyroid carcinoma and multiple endocri
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::24725f0096f9762a4e6c2d7e083830bc
http://hdl.handle.net/11585/51689
http://hdl.handle.net/11585/51689