Zobrazeno 1 - 7
of 7
pro vyhledávání: '"Fanny Degrugillier"'
Autor:
Lucile Hoch, Nathalie Bourg, Fanny Degrugillier, Céline Bruge, Manon Benabides, Emilie Pellier, Johana Tournois, Gurvan Mahé, Nicolas Maignan, Jack Dawe, Maxime Georges, David Papazian, Nik Subramanian, Stéphanie Simon, Pascale Fanen, Cédric Delevoye, Isabelle Richard, Xavier Nissan
Publikováno v:
Frontiers in Pharmacology, Vol 13 (2022)
Limb-girdle muscular dystrophy type R3 (LGMD R3) is a rare genetic disorder characterized by a progressive proximal muscle weakness and caused by mutations in the SGCA gene encoding alpha-sarcoglycan (α-SG). Here, we report the results of a mechanis
Externí odkaz:
https://doaj.org/article/2f13ac261f614217a038e04509eca796
Autor:
Fanny Degrugillier, Stéphanie Simon, Abdel Aissat, Natascha Remus, Chadia Mekki, Xavier Decrouy, Aurélie Hatton, Alexandre Hinzpeter, Brice Hoffmann, Isabelle Sermet‐Gaudelus, Isabelle Callebaut, Pascale Fanen, Virginie Prulière‐Escabasse
Publikováno v:
Clinical Case Reports, Vol 7, Iss 11, Pp 2128-2134 (2019)
Abstract Severe chronic rhinosinusitis in children should alert clinicians and extensive CFTR genotyping should be performed. We propose that thorough clinical and functional assessment in severe chronic rhinosinusitis is valuable to discover rare mu
Externí odkaz:
https://doaj.org/article/a4e997dff86f435ba10f20494a32df8f
Autor:
Lucile Hoch, Nathalie Bourg, Fanny Degrugillier, Céline Bruge, Manon Benabides, Emilie Pellier, Johana Tournois, Gurvan Mahe, Nicolas Maignan, Jack Dawe, Maxime Georges, David Papazian, Nik Subramanian, Stéphanie Simon, Pascale Fanen, Cédric Delevoye, Isabelle Richard, Xavier Nissan
Background and Purpose: Limb-girdle muscular dystrophy type R3 (LGMD R3) is a rare genetic disorder characterized by a progressive proximal muscle weakness and caused by mutations in the SGCA gene encoding alpha-sarcoglycan (α-SG). Here, we report t
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::5146663409df1ffa0518c68f53590e2b
https://doi.org/10.22541/au.163956865.51404833/v1
https://doi.org/10.22541/au.163956865.51404833/v1
Autor:
Aurélie Hatton, Isabelle Callebaut, Xavier Decrouy, Stéphanie Simon, Chadia Mekki, Natascha Remus, Abdel Aissat, Fanny Degrugillier, Brice Hoffmann, Alexandre Hinzpeter, Isabelle Sermet-Gaudelus, Pascale Fanen, Virginie Prulière-Escabasse
Publikováno v:
Clinical Case Reports
Clinical Case Reports, Vol 7, Iss 11, Pp 2128-2134 (2019)
Clinical Case Reports, Vol 7, Iss 11, Pp 2128-2134 (2019)
Severe chronic rhinosinusitis in children should alert clinicians and extensive CFTR genotyping should be performed. We propose that thorough clinical and functional assessment in severe chronic rhinosinusitis is valuable to discover rare mutations w
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::93d4433a8202d90eb53d8c930323c04b
http://europepmc.org/articles/PMC6878083
http://europepmc.org/articles/PMC6878083
Autor:
Pascale Fanen, Stéphanie Simon, Abdel Aissat, Fanny Degrugillier, Benjamin Simonneau, Xavier Decrouy, Chong Jiang, Lucie Bizard, Virginie Prulière-Escabasse, Daniela Rotin
Publikováno v:
International Journal of Molecular Sciences
International Journal of Molecular Sciences, MDPI, 2020, 21 (14), pp.4844. ⟨10.3390/ijms21144844⟩
International Journal of Molecular Sciences, Vol 21, Iss 4844, p 4844 (2020)
Volume 21
Issue 14
International Journal of Molecular Sciences, MDPI, 2020, 21 (14), pp.4844. ⟨10.3390/ijms21144844⟩
International Journal of Molecular Sciences, Vol 21, Iss 4844, p 4844 (2020)
Volume 21
Issue 14
International audience; Cystic Fibrosis is a lethal monogenic autosomal recessive disease linked to mutations in Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) protein. The most frequent mutation is the deletion of phenylalanine at positi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::30bf87afa4aa91a5e13ad3449ad99f86
https://www.hal.inserm.fr/inserm-03235062/document
https://www.hal.inserm.fr/inserm-03235062/document
Autor:
Fanny Degrugillier
Publikováno v:
Médecine humaine et pathologie. Université Paris-Est, 2019. Français. ⟨NNT : 2019PESC0068⟩
HAL
HAL
Cystic fibrosis is a rare autosomal inherited disorder caused by mutations in the CFTR gene (Cystic Fibrosis Transmembrane conductance Regulator) encoding a cAMP-dependent chloride channel. The most common mutation is the deletion of phenylalanine 50
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::ca5057c8f5b09682ceeea25c86537751
https://tel.archives-ouvertes.fr/tel-03441507/file/TH2019PESC0068.pdf
https://tel.archives-ouvertes.fr/tel-03441507/file/TH2019PESC0068.pdf
Autor:
Stéphanie Simon, Xavier Decrouy, Chong Jiang, Daniela Rotin, Virginie Prulière-Escabasse, Pascale Fanen, Fanny Degrugillier
Publikováno v:
Cystic fibrosis.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::ca6d156a65267eda30f4fb4298501c7d
https://doi.org/10.1183/13993003.congress-2018.pa3421
https://doi.org/10.1183/13993003.congress-2018.pa3421