Zobrazeno 1 - 10
of 26
pro vyhledávání: '"Aurore COULOMB L'HERMINE"'
Autor:
Natacha Kadlub, Quentin Sessiecq, Marion Mandavit, Aurore Coulomb L’Hermine, Cecile Badoual, Louise Galmiche, Ariane Berdal, Vianney Descroix, Arnaud Picard, Amélie E. Coudert
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 13, Iss 1, Pp 1-16 (2018)
Abstract Background Cherubism is a rare autosomal dominant disorder of the jaws caused by mutation of the SH3BP2 gene. The bone is replaced by a fibrous granuloma containing multinucleated giant cells. Cells of the cherubism granuloma have never been
Externí odkaz:
https://doaj.org/article/936658526b28474982965083221e5b5e
Autor:
Olivia Boccara, Ambre Dangien, Franck Fitoussi, Hubert Ducou Le Pointe, Aurore Coulomb L'Hermine, Sylvie Fraitag, Mathie Lorrot
Publikováno v:
Journal of Paediatrics and Child Health. 58:1676-1679
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::3068363484275b2ff71a883889be2ad2
https://doi.org/10.1111/jpc.15897
https://doi.org/10.1111/jpc.15897
Publikováno v:
Respiratory Diseases of the Newborn Infant ISBN: 9781849841368
Respiratory Diseases of the Newborn Infant
Respiratory Diseases of the Newborn Infant
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::68e319ade5a0860bea9f8080d61d3398
https://doi.org/10.1183/2312508x.10014520
https://doi.org/10.1183/2312508x.10014520
Autor:
Victor Pereira, Sabah Boudjemaa, Caroline Besson, Thierry Leblanc, Charlotte Rigaud, Amaury Leruste, Nathalie Garnier, Anne Lambilliotte, Mathieu Simonin, Catherine Curtillet, Jacinthe Bonneau-Lagacherie, Aurore COULOMB L'HERMINE, Judith Landman-Parker
To analyze the role of Epstein-Barr virus (EBV) in the biological and clinical characteristics of patients treated for classic Hodgkin lymphoma (cHL) in France. Bio-pathological data of 301 patients treated for a cHL in or according to the protocol o
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::f29f7f317ec46adf604d8a0b99009935
https://doi.org/10.22541/au.162196609.97513988/v1
https://doi.org/10.22541/au.162196609.97513988/v1
Autor:
Emilie Filhol-Blin, Serge Amselem, Vincent Cottin, Diane Bouvry, J. Bermudez, Bérénice Doray, Martine Reynaud-Gaubert, Violaine Giraud, Julie Traclet, Aurélie Le Borgne, Clairelyne Dupin, Sylvie Leroy, Nathalie Allou, Paul De Vuyst, Anne Bergeron, Anne-Laure Chene, Aurore Coulomb L'Hermine, Bruno Crestani, Raphael Borie, Clément Picard, Mélanie Héry, Anne Gondouin, Bruno Copin, Tifenn Desroziers, Elisabeth Longchampt, Philippe Duquesnoy, Jean-Charles Dalphin, Valérie Nau, Annick Clement, Dominique Israël-Biet, Christine Dombret, Caroline Kannengiesser, Gwenael Lorillon, Marie Legendre, Nadia Nathan, Afifaa Butt, Aurélie Cazes, Florence Dastot-Le Moal, Hilario Nunes, Marie-Pierre Debray, Laurent Gouya
Publikováno v:
European Respiratory Journal
European Respiratory Journal, 2020, 56 (6), pp.2002806. ⟨10.1183/13993003.02806-2020⟩
European Respiratory Journal, 2020, 56 (6), pp.2002806. ⟨10.1183/13993003.02806-2020⟩
IntroductionInterstitial lung diseases (ILDs) can be caused by mutations in the SFTPA1 and SFTPA2 genes, which encode the surfactant protein (SP) complex SP-A. Only 11 SFTPA1 or SFTPA2 mutations have so far been reported worldwide, of which five have
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::299f22236676101d1638a7bb53a9ac80
https://www.hal.inserm.fr/inserm-03794264/file/2002806.full.pdf
https://www.hal.inserm.fr/inserm-03794264/file/2002806.full.pdf
Autor:
Nicolas Manel, Siham Boulisfane-El Khalifi, Mary Brennan, Darragh Duffy, Nadia Nathan, Serge Amselem, Kathryn J. McKenzie, Maria José Martin-Niclos, Jonny Hertzog, Carolina Uggenti, Marie Legendre, Stéphanie Chhun, Caroline Thumerelle, Luis Seabra, Marie-Louise Frémond, Vincent Bondet, Bénédicte Neven, Joseph A. Marsh, Marie Wislez, Catherine McDougall, Marine Depp, Jan Rehwinkel, Gillian I. Rice, Aurore Coulomb L'Hermine, Yanick J. Crow, Lucienne Chatenoud, Melvin Le Bihan, Thierry Jo Molina, Karen J. Mackenzie, Alice Lepelley, Edwin Carter, Jonathan Marey
Publikováno v:
Journal of Experimental Medicine
Journal of Experimental Medicine, Rockefeller University Press, 2020, 217 (11), pp.e20200600. ⟨10.1084/jem.20200600⟩
Journal of Experimental Medicine, 2020, 217 (11), pp.e20200600. ⟨10.1084/jem.20200600⟩
Lepelley, A, Martin-niclós, M J, Le Bihan, M, Marsh, J A, Uggenti, C, Rice, G I, Bondet, V, Duffy, D, Hertzog, J, Rehwinkel, J, Amselem, S, Boulisfane-el Khalifi, S, Brennan, M, Carter, E, Chatenoud, L, Chhun, S, Coulomb L’hermine, A, Depp, M, Legendre, M, Mackenzie, K J, Marey, J, Mcdougall, C, Mckenzie, K J, Molina, T J, Neven, B, Seabra, L, Thumerelle, C, Wislez, M, Nathan, N, Manel, N, Crow, Y J & Frémond, M 2020, ' Mutations in COPA lead to abnormal trafficking of STING to the Golgi and interferon signaling ', Journal of Experimental Medicine, vol. 217, no. 11 . https://doi.org/10.1084/jem.20200600
Lepelley, A, Martin-Niclos, M J, Le Bihan, M, Marsh, J A, Uggenti, C, Rice, G I, Bondet, V, Duffy, D, Hertzog, J, Rehwinkel, J, Amselem, S, Boulisfane-El Khalifi, S, Brennan, M, Carter, E, Chatenoud, L, Chhun, S, l'Hermine, A C, Depp, M, Legendre, M, Mackenzie, K J, Marey, J, McDougall, C, McKenzie, K J, Molina, T J, Neven, B, Seabra, L, Thumerelle, C, Wislez, M, Nathan, N, Manel, N, Crow, Y J & Fremond, M-L 2020, ' Mutations in COPA lead to abnormal trafficking of STING to the Golgi and interferon signaling ', Journal of Experimental Medicine, vol. 217, no. 11 . https://doi.org/10.1084/jem.20200600
Journal of Experimental Medicine, Rockefeller University Press, 2020, 217 (11), pp.e20200600. ⟨10.1084/jem.20200600⟩
Journal of Experimental Medicine, 2020, 217 (11), pp.e20200600. ⟨10.1084/jem.20200600⟩
Lepelley, A, Martin-niclós, M J, Le Bihan, M, Marsh, J A, Uggenti, C, Rice, G I, Bondet, V, Duffy, D, Hertzog, J, Rehwinkel, J, Amselem, S, Boulisfane-el Khalifi, S, Brennan, M, Carter, E, Chatenoud, L, Chhun, S, Coulomb L’hermine, A, Depp, M, Legendre, M, Mackenzie, K J, Marey, J, Mcdougall, C, Mckenzie, K J, Molina, T J, Neven, B, Seabra, L, Thumerelle, C, Wislez, M, Nathan, N, Manel, N, Crow, Y J & Frémond, M 2020, ' Mutations in COPA lead to abnormal trafficking of STING to the Golgi and interferon signaling ', Journal of Experimental Medicine, vol. 217, no. 11 . https://doi.org/10.1084/jem.20200600
Lepelley, A, Martin-Niclos, M J, Le Bihan, M, Marsh, J A, Uggenti, C, Rice, G I, Bondet, V, Duffy, D, Hertzog, J, Rehwinkel, J, Amselem, S, Boulisfane-El Khalifi, S, Brennan, M, Carter, E, Chatenoud, L, Chhun, S, l'Hermine, A C, Depp, M, Legendre, M, Mackenzie, K J, Marey, J, McDougall, C, McKenzie, K J, Molina, T J, Neven, B, Seabra, L, Thumerelle, C, Wislez, M, Nathan, N, Manel, N, Crow, Y J & Fremond, M-L 2020, ' Mutations in COPA lead to abnormal trafficking of STING to the Golgi and interferon signaling ', Journal of Experimental Medicine, vol. 217, no. 11 . https://doi.org/10.1084/jem.20200600
International audience; Heterozygous missense mutations in coatomer protein subunit α, COPA, cause a syndrome overlapping clinically with type I IFN-mediated disease due to gain-of-function in STING, a key adaptor of IFN signaling. Recently, increas
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1dba035d6aa9a2174cb639079af85e72
https://doi.org/10.1084/jem.20200600
https://doi.org/10.1084/jem.20200600
Autor:
Marie, Legendre, Afifaa, Butt, Raphaël, Borie, Marie-Pierre, Debray, Diane, Bouvry, Emilie, Filhol-Blin, Tifenn, Desroziers, Valérie, Nau, Bruno, Copin, Florence, Dastot-Le Moal, Mélanie, Héry, Philippe, Duquesnoy, Nathalie, Allou, Anne, Bergeron, Julien, Bermudez, Aurélie, Cazes, Anne-Laure, Chene, Vincent, Cottin, Bruno, Crestani, Jean-Charles, Dalphin, Christine, Dombret, Bérénice, Doray, Clairelyne, Dupin, Violaine, Giraud, Anne, Gondouin, Laurent, Gouya, Dominique, Israël-Biet, Caroline, Kannengiesser, Aurélie, Le Borgne, Sylvie, Leroy, Elisabeth, Longchampt, Gwenaël, Lorillon, Hilario, Nunes, Clément, Picard, Martine, Reynaud-Gaubert, Julie, Traclet, Paul, de Vuyst, Aurore, Coulomb L'Hermine, Annick, Clement, Serge, Amselem, Nadia, Nathan
Publikováno v:
The European respiratory journal. 56(6)
Interstitial lung diseases (ILDs) can be caused by mutations in theThe consequences of the 11For the 11 identified mutations, protein production was preserved but secretion was abolished. The expression pattern of lung SP-A available in six patients
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::1d1c8abe3058eae7cbde9783acd903be
https://pubmed.ncbi.nlm.nih.gov/33361455
https://pubmed.ncbi.nlm.nih.gov/33361455
Autor:
Guillaume Thouvenin, Chiara Sileo, Hubert Ducou Le Pointe, Effrosyne Manali, Nadia Nathan, Aurore Coulomb L'Hermine, Annick Clement, Laura Berdah, Pierre-Louis Leger, Spyros Papiris, Céline Delestrain
Publikováno v:
Journal of Clinical Medicine
Journal of Clinical Medicine, MDPI, 2019, 8 (9), pp.1312. ⟨10.3390/jcm8091312⟩
Journal of Clinical Medicine, Vol 8, Iss 9, p 1312 (2019)
Journal of Clinical Medicine, 2019, 8 (9), pp.1312. ⟨10.3390/jcm8091312⟩
Journal of Clinical Medicine, MDPI, 2019, 8 (9), pp.1312. ⟨10.3390/jcm8091312⟩
Journal of Clinical Medicine, Vol 8, Iss 9, p 1312 (2019)
Journal of Clinical Medicine, 2019, 8 (9), pp.1312. ⟨10.3390/jcm8091312⟩
International audience; Pulmonary fibrosis (PF) is a very rare condition in children, which may be observed in specific forms of interstitial lung disease. None of the clinical, radiological, or histological descriptions used for PF diagnosis in adul
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c6c6d43e74bc995dc5924dbba1f0d9ba
https://hal.sorbonne-universite.fr/hal-02343397/document
https://hal.sorbonne-universite.fr/hal-02343397/document
Autor:
Claire Cropet, Frédéric Brioude, Aurélien Scalabre, Claudia Pasqualini, Linda Dainese, Frederic Auber, Aurore Coulomb L'Hermine, Christophe Bergeron, Sabine Irtan, Arnauld Verschuur, Yves Le Bouc, Georges Audry, Gudrun Schleiermacher
Publikováno v:
Pediatric Blood & Cancer. 63:1571-1577
Background Patients with Beckwith–Wiedemann syndrome (BWS) or isolated hemihypertrophy (HH) treated for a Wilms tumor (WT) carry an increased risk of developing metachronous lesion. There are no guidelines on precise indications for nephron sparing
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::677d9f2865e7021ffed5a6094c9d5a2d
https://doi.org/10.1002/pbc.26073
https://doi.org/10.1002/pbc.26073
Autor:
Valérie Nau, Emilie Filhol-Blin, Violaine Giraud, Laurent Gouya, Philippe Duquesnoy, Christophe Delacourt, Afifaa Butt, Jean-Charles Dalphin, Julie Traclet, Philippe Reix, Hilario Nunes, Bruno Crestani, Juliette Albuisson, Serge Amselem, Paul De Vuyst, Bruno Copin, Marie Legendre, Carine Gomez, Grégoire Prévot, Diane Bouvry, Raphael Borie, Clément Picard, Florence Dastot-Le Moal, Vincent Cottin, Caroline Kannengiesser, Nadia Nathan, Keren Borensztajn, Aurore Coulomb L'Hermine, Annick Clement, Kais Ahmad, Nathalie Allou, Martine-Louise Reynaud-Gaubert
Publikováno v:
Rare ILD/DPLD.
Background: Heterozygous mutations in the SFTPA1 and SFTPA2 genes, encoding the surfactant protein SP-A1 and SP-A2 have been associated with rare forms of familial IIP and lung adenocarcinoma. We previously described 11 new heterozygous SFTPA1 and SF
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::d3703ecb168856f4e1b48cfd88c9a421
https://doi.org/10.1183/13993003.congress-2018.pa2235
https://doi.org/10.1183/13993003.congress-2018.pa2235