المؤلفون: Céline Delestrain, Abdel Aissat, Elodie Nattes, Isabelle Gibertini, Valérie Lacroze, Stéphanie Simon, Xavier Decrouy, Alix de Becdelièvre, Pascale Fanen, Ralph Epaud

المصدر: Frontiers in Pediatrics, Vol 10 (2023)

مصطلحات موضوعية: child, NKX2-1, lung, surfactant protein, thyroid, Pediatrics, RJ1-570

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fped.2022.978598/full; https://doaj.org/toc/2296-2360

URL الوصول: https://doaj.org/article/1fbcfb1fc2d145d8918d083cdcd42168

المؤلفون: 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

المصدر: Clinical Case Reports, Vol 7, Iss 11, Pp 2128-2134 (2019)

مصطلحات موضوعية: CFTR, chronic rhinosinusitis, cystic fibrosis, functional studies, Medicine, Medicine (General), R5-920

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2050-0904

URL الوصول: https://doaj.org/article/a4e997dff86f435ba10f20494a32df8f

المؤلفون: Stéphanie Simon, Abdel Aissat, Fanny Degrugillier, Benjamin Simonneau, Pascale Fanen, André-Patrick Arrigo

المصدر: International Journal of Molecular Sciences, Vol 22, Iss 8, p 4252 (2021)

مصطلحات موضوعية: cystic fibrosis, CFTR, sHsps, HspB1, HspB4, HspB5, Biology (General), QH301-705.5, Chemistry, QD1-999

وصف الملف: electronic resource

Relation: https://www.mdpi.com/1422-0067/22/8/4252; https://doaj.org/toc/1661-6596; https://doaj.org/toc/1422-0067

URL الوصول: https://doaj.org/article/d0ef91c87f654dc9825a015d13ae6ae4

المؤلفون: Chadia Mekki, Abdel Aissat, Véronique Mirlesse, Sophie Mayer Lacrosniere, Elsa Eche, Annick Le Floch, Sandra Whalen, Cecile Prud’Homme, Christelle Remus, Benoit Funalot, Vanina Castaigne, Pascale Fanen, Alix de Becdelièvre

المصدر: Genes, Vol 12, Iss 5, p 670 (2021)

مصطلحات موضوعية: Cystic Fibrosis (CF), CFTR, echogenic bowel, non-visualization of fetal gallbladder (NVFGB), prenatal, Africa, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://www.mdpi.com/2073-4425/12/5/670; https://doaj.org/toc/2073-4425

URL الوصول: https://doaj.org/article/9fd6b7da4e5346d5a69d24b32f65f50e

المؤلفون: Fanny Degrugillier, Abdel Aissat, Virginie Prulière-Escabasse, Lucie Bizard, Benjamin Simonneau, Xavier Decrouy, Chong Jiang, Daniela Rotin, Pascale Fanen, Stéphanie Simon

المصدر: International Journal of Molecular Sciences, Vol 21, Iss 14, p 4844 (2020)

مصطلحات موضوعية: cystic fibrosis, CFTR, HspB5, alpha B-crystallin, CRYAB, phosphorylation, Biology (General), QH301-705.5, Chemistry, QD1-999

وصف الملف: electronic resource

Relation: https://www.mdpi.com/1422-0067/21/14/4844; https://doaj.org/toc/1661-6596; https://doaj.org/toc/1422-0067

URL الوصول: https://doaj.org/article/4e0e1cdb46b343a79e2df89bc9ce3b2b

المؤلفون: Loïc Drévillon, Gaëlle Tanguy, Alexandre Hinzpeter, Nicole Arous, Alix de Becdelièvre, Abdel Aissat, Agathe Tarze, Michel Goossens, Pascale Fanen

المصدر: PLoS ONE, Vol 6, Iss 3, p e18334 (2011)

مصطلحات موضوعية: Medicine, Science

وصف الملف: electronic resource

Relation: http://europepmc.org/articles/PMC3069076?pdf=render; https://doaj.org/toc/1932-6203

URL الوصول: https://doaj.org/article/5061d0c3eb354a89b407b3b4a012778f

المؤلفون: Alexandre Hinzpeter, Abdel Aissat, Elvira Sondo, Catherine Costa, Nicole Arous, Christine Gameiro, Natacha Martin, Agathe Tarze, Laurence Weiss, Alix de Becdelièvre, Bruno Costes, Michel Goossens, Luis J Galietta, Emmanuelle Girodon, Pascale Fanen

المصدر: PLoS Genetics, Vol 6, Iss 10 (2010)

مصطلحات موضوعية: Genetics, QH426-470

وصف الملف: electronic resource

Relation: http://europepmc.org/articles/PMC2951375?pdf=render; https://doaj.org/toc/1553-7390; https://doaj.org/toc/1553-7404

URL الوصول: https://doaj.org/article/c7ee5c74b4ae4089a975668a60796086

المؤلفون: 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

المصدر: Clinical Case Reports
Clinical Case Reports, Vol 7, Iss 11, Pp 2128-2134 (2019)

مصطلحات موضوعية: congenital, hereditary, and neonatal diseases and abnormalities, Chronic rhinosinusitis, lcsh:Medicine, Pulmonary infection, Case Report, macromolecular substances, Case Reports, 030204 cardiovascular system & hematology, Cystic fibrosis, cystic fibrosis, 03 medical and health sciences, 0302 clinical medicine, Rare mutations, Medicine, Functional studies, CFTR, Genotyping, lcsh:R5-920, business.industry, chronic rhinosinusitis, lcsh:R, General Medicine, respiratory system, medicine.disease, 030220 oncology & carcinogenesis, Immunology, functional studies, lcsh:Medicine (General), business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::93d4433a8202d90eb53d8c930323c04b
http://europepmc.org/articles/PMC6878083

المؤلفون: Alix de Becdelièvre, Sophie Mayer Lacrosniere, Véronique Mirlesse, Benoît Funalot, Abdel Aissat, Annick Le Floch, Elsa Eche, Christelle Remus, Vanina Castaigne, Pascale Fanen, Cecile Prud’Homme, Chadia Mekki, Sandra Whalen

المساهمون: Institut Mondor de Recherche Biomédicale (IMRB), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris-Est Créteil Val-de-Marne - Paris 12 (UPEC UP12)-IFR10, Service de génétique [CHU Mondor], CHU Henri Mondor, AP-HP - Hôpital Bichat - Claude Bernard [Paris], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Geneva University Hospital (HUG), Centre de ressources et de compétences pour la mucoviscidose [Debré], AP-HP Hôpital universitaire Robert-Debré [Paris], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), CHU Trousseau [APHP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Centre Hospitalier Intercommunal de Créteil (CHIC), Institut National de la Santé et de la Recherche Médicale (INSERM)-IFR10-Université Paris-Est Créteil Val-de-Marne - Paris 12 (UPEC UP12), Simon, Stéphanie

المصدر: Genes
Genes, MDPI, 2021, 12 (5), pp.670. ⟨10.3390/genes12050670⟩
Genes, Vol 12, Iss 670, p 670 (2021)
Volume 12
Issue 5

مصطلحات موضوعية: 0301 basic medicine, prenatal, [SDV]Life Sciences [q-bio], echogenic bowel, Disease, QH426-470, Gene mutation, Bioinformatics, CFTR, Cystic fibrosis, 03 medical and health sciences, 0302 clinical medicine, Genetics, medicine, Cystic Fibrosis (CF), Genotyping, Genetics (clinical), non-Caucasian, non-visualization of fetal gallbladder (NVFGB), Fetus, [SDV.GEN]Life Sciences [q-bio]/Genetics, 030219 obstetrics & reproductive medicine, business.industry, Gallbladder, medicine.disease, 3. Good health, [SDV] Life Sciences [q-bio], 030104 developmental biology, medicine.anatomical_structure, Cohort, Africa, Echogenic Bowel, mutation, business

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::074b3e04c82bd385c51228fe5b9de43b

المؤلفون: Ralph Epaud, Pascale Fanen, Abdel Aissat, Agathe Tarze, Elodie Nattes, Stéphanie Finet, Céline Delestrain, Valérie Delattre, Stéphanie Simon, Bruno Costes, Elodie Duprat

المصدر: British journal of clinical pharmacologyREFERENCES. 87(5)

مصطلحات موضوعية: Gene isoform, Protein isoform, Mutant, Twins, ABCA3, medicine.disease_cause, 030226 pharmacology & pharmacy, Methylprednisolone, 03 medical and health sciences, 0302 clinical medicine, medicine, Humans, Protein Isoforms, Pharmacology (medical), 030212 general & internal medicine, Pharmacology, Messenger RNA, Mutation, biology, Wild type, Surfactant protein C, respiratory system, Molecular biology, Pulmonary Surfactant-Associated Protein C, A549 Cells, biology.protein, Lung Diseases, Interstitial

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::32a87f4a208cac92f57f3972e5b5b476
https://pubmed.ncbi.nlm.nih.gov/33179299