المؤلفون: Lévêque, Manuella, Mirval, Sandra, Barrault, Christine, Fixe, Isabelle, Coraux, Christelle, Becq, Frédéric, Sage, Édouard, Vandebrouck, Clarisse

المساهمون: Physiopathologie et régulation des transports ioniques (PRéTI Poitiers ), Université de Poitiers = University of Poitiers (UP), Pathologies Pulmonaires et Plasticité Cellulaire - UMR-S 1250 (P3CELL), Université de Reims Champagne-Ardenne (URCA)-Institut National de la Santé et de la Recherche Médicale (INSERM), Virologie et Immunologie Moléculaires (VIM (UR 0892)), Université de Versailles Saint-Quentin-en-Yvelines (UVSQ)-Université Paris-Saclay-Institut National de Recherche pour l’Agriculture, l’Alimentation et l’Environnement (INRAE), Hôpital Foch Suresnes, ANR-20-LCV1-0006,DED-Line,Développement de modèles cellulaires épithéliaux humains pour la prédiction et le testing pharmacologique des maladies de la sécheresse oculaire (Dry Eye Diseases ou DED)(2020)

المصدر: ISSN: 1465-9921 ; Respiratory Research ; https://hal.science/hal-04852924 ; Respiratory Research, 2024, 25 (1), pp.436. ⟨10.1186/s12931-024-03059-8⟩.

مصطلحات موضوعية: Cystic fibrosis, ETI, Calcium, SERCA, CFTR, Endoplasmic reticulum, MESH: Animals, MESH: Benzodioxoles* / pharmacology, MESH: Cystic Fibrosis Transmembrane Conductance Regulator* / metabolism, MESH: Epithelial Cells / drug effects, MESH: Epithelial Cells / metabolism, MESH: Humans, MESH: Indoles* / pharmacology, MESH: Protein Transport / drug effects, MESH: Pyrazoles* / pharmacology, MESH: Pyridines / pharmacology, MESH: Pyrroles / pharmacology, MESH: Pyrrolidines, MESH: CHO Cells, MESH: Respiratory Mucosa / drug effects, MESH: Respiratory Mucosa / metabolism, MESH: Calcium* / metabolism, MESH: Cells, Cultured, MESH: Cricetulus, MESH: Cystic Fibrosis / drug therapy, MESH: Cystic Fibrosis / genetics, MESH: Cystic Fibrosis / metabolism, MESH: Cystic Fibrosis Transmembrane Conductance Regulator* / genetics, [SDV]Life Sciences [q-bio]

Relation: info:eu-repo/semantics/altIdentifier/pmid/39702307; PUBMED: 39702307; PUBMEDCENTRAL: PMC11660580

الاتاحة: https://hal.science/hal-04852924
https://hal.science/hal-04852924v1/document
https://hal.science/hal-04852924v1/file/s12931-024-03059-8.pdf
https://doi.org/10.1186/s12931-024-03059-8

المؤلفون: Lefferts, Juliet W, Kroes, Suzanne, Smith, Matthew B, Niemöller, Paul J, Nieuwenhuijze, Natascha D A, Sonneveld van Kooten, Heleen N, van der Ent, Cornelis K, Beekman, Jeffrey M, van Beuningen, Sam F B

المساهمون: Longziekten onderzoek 2, Cancer, Regenerative Medicine and Stem Cells, Longziekten patientenzorg, Speerpunt Child Health, Child Health, Infection & Immunity, Onderzoek

مصطلحات موضوعية: Cystic Fibrosis Transmembrane Conductance Regulator/genetics, Cystic Fibrosis/genetics, Deep Learning, Humans, Intestines, Organoids, Journal Article

وصف الملف: application/pdf

Relation: https://dspace.library.uu.nl/handle/1874/451453

الاتاحة: https://dspace.library.uu.nl/handle/1874/451453

المؤلفون: Rodenburg, Lisa W, Metzemaekers, Mieke, van der Windt, Isabelle S, Smits, Shannon M A, den Hertog-Oosterhoff, Loes A, Kruisselbrink, Evelien, Brunsveld, Jesse E, Michel, Sabine, de Winter-de Groot, Karin M, van der Ent, Cornelis K, Stadhouders, Ralph, Beekman, Jeffrey M, Amatngalim, Gimano D

المساهمون: Longziekten onderzoek 2, Regenerative Medicine and Stem Cells, CTI, Longziekten patientenzorg, Child Health, Speerpunt Child Health, Infection & Immunity, Onderzoek

مصطلحات موضوعية: Cells, Cultured, Cystic Fibrosis Transmembrane Conductance Regulator/metabolism, Cystic Fibrosis/genetics, Epithelial Cells/metabolism, Humans, Nose, Respiratory Mucosa/metabolism, Journal Article

وصف الملف: application/pdf

Relation: https://dspace.library.uu.nl/handle/1874/450346

الاتاحة: https://dspace.library.uu.nl/handle/1874/450346

المؤلفون: Uhl, Franziska E, Vanherle, Lotte, Meissner, Anja

المصدر: Frontiers in Immunology. 13

مصطلحات موضوعية: Animals, Cystic Fibrosis/genetics, Cystic Fibrosis Transmembrane Conductance Regulator/genetics, Heart Failure/drug therapy, Humans, Inflammation, Mice, Pneumonia/drug therapy, Quality of Life, Medicin och hälsovetenskap, Hälsovetenskap, Folkhälsovetenskap, global hälsa, socialmedicin och epidemiologi, Medical and Health Sciences, Health Sciences, Public Health, Global Health, Social Medicine and Epidemiology, Naturvetenskap, Biologi, Immunologi, Natural Sciences, Biological Sciences, Immunology

URL الوصول: https://lup.lub.lu.se/record/ce18685f-6e4e-4bea-827e-31f8ab602111
http://dx.doi.org/10.3389/fimmu.2022.928300

المؤلفون: Amatngalim, Gimano D, Rodenburg, Lisa W, Aalbers, Bente L, Raeven, Henriette Hm, Aarts, Ellen M, Sarhane, Dounia, Spelier, Sacha, Lefferts, Juliet W, Silva, Iris Al, Nijenhuis, Wilco, Vrendenbarg, Sacha, Kruisselbrink, Evelien, Brunsveld, Jesse E, van Drunen, Cornelis M, Michel, Sabine, de Winter-de Groot, Karin M, Heijerman, Harry G, Kapitein, Lukas C, Amaral, Magarida D, van der Ent, Cornelis K, Beekman, Jeffrey M

المساهمون: Longziekten onderzoek 2, Child Health, Arts Assistenten Longziekten, Infection & Immunity, Cancer, CTI, Longziekten patientenzorg, Longziekten, Speerpunt Child Health, Onderzoek, Regenerative Medicine and Stem Cells

مصطلحات موضوعية: Cells, Cultured, Cystic Fibrosis Transmembrane Conductance Regulator/genetics, Cystic Fibrosis/genetics, Epithelial Cells, Humans, Organoids, Journal Article, Research Support, Non-U.S. Gov't

وصف الملف: application/pdf

Relation: https://dspace.library.uu.nl/handle/1874/446965

الاتاحة: https://dspace.library.uu.nl/handle/1874/446965

المؤلفون: Bergougnoux, Anne, Billet, A., Ka, C., Heller, M., Degrugillier, F., Vuillaume, M.-L., Thoreau, V., Sasorith, Souphatta, Bareil, C., Thèze, C., Ferec, Claude, Gac, G. Le, Bienvenu, T., Bieth, E., Gaston, V., Lalau, G., Pagin, A., Malinge, M.-C., Dufernez, F., Lemonnier, L., Koenig, Michel, Fergelot, P., Claustres, Mireille, Taulan, Magali, Kitzis, A., Reboul, M.-P., Becq, F., Fanen, P., Mekki, C., Audrezet, Marie-Pierre, Girodon, E., Raynal, Caroline

المساهمون: Physiologie & médecine expérimentale du Cœur et des Muscles U 1046 (PhyMedExp), Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Université de Montpellier (UM), Centre Hospitalier Régional Universitaire Montpellier (CHRU Montpellier), Structures tissulaires et interactions moléculaires (STIM), Institut National de Recherche pour l’Agriculture, l’Alimentation et l’Environnement (INRAE), Génétique, génomique fonctionnelle et biotechnologies (UMR 1078) (GGB), EFS-Université de Brest (UBO)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Institut Brestois Santé Agro Matière (IBSAM), Université de Brest (UBO), Hôpital Cochin AP-HP, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Institut Mondor de Recherche Biomédicale (IMRB), Institut National de la Santé et de la Recherche Médicale (INSERM)-IFR10-Université Paris-Est Créteil Val-de-Marne - Paris 12 (UPEC UP12), CHU de Bordeaux Pellegrin Bordeaux, Unité neurovasculaire et troubles cognitifs EA 3808 (Neuvacod Poitiers ), Université de Poitiers = University of Poitiers (UP), Service Génétique Médicale CHU Toulouse, Institut Fédératif de Biologie (IFB), Centre Hospitalier Universitaire de Toulouse (CHU Toulouse)-Centre Hospitalier Universitaire de Toulouse (CHU Toulouse)-Pôle Biologie CHU Toulouse, Centre Hospitalier Universitaire de Toulouse (CHU Toulouse), Centre Hospitalier Régional Universitaire CHU Lille (CHRU Lille), Centre Hospitalier Universitaire d'Angers (CHU Angers), PRES Université Nantes Angers Le Mans (UNAM), Service de Génétique Médicale CHU Poitiers, Centre hospitalier universitaire de Poitiers = Poitiers University Hospital (CHU de Poitiers La Milétrie ), Association Vaincre la mucoviscidose (AFLM), Laboratoire Maladies Rares: Génétique et Métabolisme (Bordeaux) (U1211 INSERM/MRGM), Université de Bordeaux (UB)-Groupe hospitalier Pellegrin-Institut National de la Santé et de la Recherche Médicale (INSERM), Signalisation et Transports Ioniques Membranaires (STIM Poitiers ), Université de Poitiers = University of Poitiers (UP)-Université de Tours (UT)-Centre National de la Recherche Scientifique (CNRS), Hôpital Henri Mondor, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Henri Mondor-Université Paris-Est Créteil Val-de-Marne - Paris 12 (UPEC UP12), Institut Necker Enfants-Malades (INEM - UM 111 (UMR 8253 / U1151)), Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Université Paris Cité (UPCité)

المصدر: ISSN: 1569-1993.

مصطلحات موضوعية: MESH: Cystic Fibrosis Transmembrane Conductance Regulator / genetics, MESH: Cystic Fibrosis / drug therapy, MESH: Cystic Fibrosis / genetics, MESH: Exons, MESH: Humans, MESH: Mutation, Missense, MESH: RNA Splicing / genetics, [SDV.BBM]Life Sciences [q-bio]/Biochemistry, Molecular Biology, [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics

Relation: info:eu-repo/semantics/altIdentifier/pmid/36567205; hal-03913493; https://hal.science/hal-03913493; https://hal.science/hal-03913493/document; https://hal.science/hal-03913493/file/2022%20Bergougnoux%20et%20al.,%20The%20multi.pdf; PUBMED: 36567205

الاتاحة: https://hal.science/hal-03913493
https://hal.science/hal-03913493/document
https://hal.science/hal-03913493/file/2022%20Bergougnoux%20et%20al.,%20The%20multi.pdf
https://doi.org/10.1016/j.jcf.2022.12.003

المؤلفون: Farhat, Raëd, El-Seedy, Ayman, Pasquet, Marie-Claude, Corbani, Sandra, Mégarbané, André, Ladeveze, Veronique, Kitzis, Alain

المساهمون: Unité neurovasculaire et troubles cognitifs EA 3808 = Neurovascular Unit and Cognitive Disorders EA 3808 (Neuvacod Poitiers ), Université de Poitiers = University of Poitiers (UP), Alexandria University Alexandrie, Service de Génétique Médicale CHU Poitiers, Centre hospitalier universitaire de Poitiers = Poitiers University Hospital (CHU de Poitiers La Milétrie ), Université Saint-Joseph de Beyrouth (USJ), Institut Jérôme Lejeune

المصدر: ISSN: 0145-5680.

مصطلحات موضوعية: CF N1303K Complex alleles hybrid minigene splicing, CF, N1303K, Complex alleles, hybrid minigene, splicing, MESH: Alleles, MESH: Cystic Fibrosis Transmembrane Conductance Regulator* / genetics, MESH: Cystic Fibrosis* / genetics, MESH: HEK293 Cells, MESH: Humans, MESH: Mediterranean Region, MESH: Mutation / genetics, MESH: RNA, Messenger, [SDV]Life Sciences [q-bio], [SDV.BBM.BM]Life Sciences [q-bio]/Biochemistry, Molecular Biology/Molecular biology, [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics

الاتاحة: https://hal.science/hal-04532060
https://hal.science/hal-04532060v1/document
https://hal.science/hal-04532060v1/file/4363-Article%20Text-10013-10516-10-20220821.pdf
https://doi.org/10.14715/cmb/2022.68.4.7

المؤلفون: Waheed, Nadia, Waris, Rehmana, Naseer, Maryam, Razzaq, Ayesha, Haider, Nighat, Shah, Abid Ali, Ullah, Asmat

المصدر: Waheed , N , Waris , R , Naseer , M , Razzaq , A , Haider , N , Shah , A A & Ullah , A 2024 , ' Mutational spectrum of CFTR in cystic fibrosis patients with gastrointestinal and hepatobiliary manifestations ' , Molecular Biology Reports , vol. 51 , no. 1 , 573 . https://doi.org/10.1007/s11033-024-09508-3

مصطلحات موضوعية: CFTR gene, Cystic fibrosis, Dual molecular diagnosis, Pancreatic insufficiency, Mutation/genetics, Humans, Child, Preschool, Infant, Male, Liver Diseases/genetics, Cystic Fibrosis Transmembrane Conductance Regulator/genetics, Phenotype, Pakistan, Exome Sequencing/methods, Female, Cystic Fibrosis/genetics, Gastrointestinal Diseases/genetics

Relation: https://pure.au.dk/portal/en/publications/f884fe49-0e9d-417c-8074-a83295e03e87

الاتاحة: https://pure.au.dk/portal/en/publications/f884fe49-0e9d-417c-8074-a83295e03e87
https://doi.org/10.1007/s11033-024-09508-3
http://www.scopus.com/inward/record.url?scp=85191245991&partnerID=8YFLogxK

المؤلفون: Haq, Iram J., Althaus, Mike, Gardner, Aaron Ions, Yeoh, Hui Ying, Joshi, Urjita, Saint-Criq, Vinciane, Verdon, Bernard, Townshend, Jennifer, O'Brien, Christopher, Ben-Hamida, Mahfud, Thomas, Matthew, Bourke, Stephen, van der Sluijs, Peter, Braakman, Ineke, Ward, Chris, Gray, Michael A., Brodlie, Malcolm

المساهمون: Sub Cellular Protein Chemistry, Cellular Protein Chemistry

مصطلحات موضوعية: Amino Acid Substitution, Animals, Bronchi/metabolism, Cystic Fibrosis Transmembrane Conductance Regulator/genetics, Cystic Fibrosis/genetics, Epithelial Cells/metabolism, Female, Humans, Male, Mutation, Missense, Sodium Chloride/metabolism, Xenopus laevis

وصف الملف: application/pdf

Relation: https://dspace.library.uu.nl/handle/1874/413879

الاتاحة: https://dspace.library.uu.nl/handle/1874/413879

المؤلفون: Jonathan L. Gillan, Mithil Chokshi, Gareth R. Hardisty, Sara Clohisey Hendry, Daniel Prasca-Chamorro, Nicola J. Robinson, Benjamin Lasota, Richard Clark, Lee Murphy, Moira K. B. Whyte, J. Kenneth Baillie, Donald J. Davidson, Gang Bao, Robert D. Gray

المصدر: Gillan, J L, Chokshi, M, Hardisty, G R, Clohisey Hendry, S, Prasca-Chamorro, D, Robinson, N J, Lasota, B, Clark, R, Murphy, L, Whyte, M K B, Baillie, J K, Davidson, D J, Bao, G & Gray, R D 2023, ' CAGE sequencing reveals CFTR-dependent dysregulation of type I IFN signaling in activated cystic fibrosis macrophages ', Science Advances, vol. 9, no. 21, eadg5128, pp. 1-17 . https://doi.org/10.1126/sciadv.adg5128

مصطلحات موضوعية: Multidisciplinary, Macrophages/metabolism, Mutation, Pseudomonas aeruginosa, Humans, Cystic Fibrosis Transmembrane Conductance Regulator/genetics, Cystic Fibrosis/genetics, Signal Transduction

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ac1d6f49036f9327fdf6f94531d99523
https://www.pure.ed.ac.uk/ws/files/350052675/sciadv.adg5128.pdf

المؤلفون: Froux, Lionel, Coraux, Christelle, Sage, Edouard, Becq, Frédéric

المساهمون: Signalisation et Transports Ioniques Membranaires (STIM Poitiers ), Université de Poitiers = University of Poitiers (UP)-Université de Tours (UT)-Centre National de la Recherche Scientifique (CNRS), Pathologies Pulmonaires et Plasticité Cellulaire - UMR-S 1250 (P3CELL), Université de Reims Champagne-Ardenne (URCA)-Institut National de la Santé et de la Recherche Médicale (INSERM), Chirurgie thoracique et transplantation pulmonaire Suresnes (CT2P - Hôpital Foch), Hôpital Foch Suresnes, Université de Versailles Saint-Quentin-en-Yvelines (UVSQ)

المصدر: ISSN: 2045-2322.

مصطلحات موضوعية: Cell culture, Chloride channels, Cystic fibrosis, Electrophysiology, Pharmacology, MESH: Bronchi / metabolism, MESH: Cell Line, MESH: Cystic Fibrosis / genetics, MESH: Cystic Fibrosis / metabolism, MESH: Cystic Fibrosis Transmembrane Conductance Regulator / genetics, MESH: Cystic Fibrosis Transmembrane Conductance Regulator / metabolism, MESH: Epithelial Cells / metabolism, MESH: Humans, MESH: Mutation / genetics, MESH: Thermal Conductivity, [SDV.MHEP.PSR]Life Sciences [q-bio]/Human health and pathology/Pulmonology and respiratory tract, [SDV.BC.BC]Life Sciences [q-bio]/Cellular Biology/Subcellular Processes [q-bio.SC], [SDV.SP.PHARMA]Life Sciences [q-bio]/Pharmaceutical sciences/Pharmacology

Relation: info:eu-repo/semantics/altIdentifier/pmid/31551433; hal-04541618; https://hal.science/hal-04541618; https://hal.science/hal-04541618/document; https://hal.science/hal-04541618/file/s41598-019-50066-7.pdf; PUBMED: 31551433; PUBMEDCENTRAL: PMC6760155

الاتاحة: https://hal.science/hal-04541618
https://hal.science/hal-04541618/document
https://hal.science/hal-04541618/file/s41598-019-50066-7.pdf
https://doi.org/10.1038/s41598-019-50066-7

المؤلفون: Dal'Maso, Vinícius Buaes, Mallmann, Lucas, Siebert, Marina, Simon, Laura, Saraiva-Pereira, Maria Luiza, Dalcin, Paulo de Tarso Roth

المصدر: Jornal Brasileiro de Pneumologia. April 2013 39(2)

مصطلحات موضوعية: Cystic fibrosis/diagnosis, Cystic fibrosis/genetics, Cystic fibrosis transmembrane conductance regulator

وصف الملف: text/html

URL الوصول: http://old.scielo.br/scielo.php?script=sci_arttext&pid=S1806-37132013000200181

المؤلفون: Lewis, Hal A, Buchanan, Sean G, Burley, Stephen K, Conners, Kris, Dickey, Mark, Dorwart, Michael, Fowler, Richard, Gao, Xia, Guggino, William B, Hendrickson, Wayne A, Hunt, John F, Kearins, Margaret C, Lorimer, Don, Maloney, Peter C, Post, Kai W, Rajashankar, Kanagalaghatta R, Rutter, Marc E, Sauder, J Michael, Shriver, Stephanie, Thibodeau, Patrick H, Thomas, Philip J, Zhang, Marie, Zhao, Xun, Emtage, Spencer

الموضوعات: Cystic fibrosis Molecular aspects., ATP-binding cassette transporters., Cystic fibrosis Genetics., Cystic Fibrosis Transmembrane Conductance Regulator genetics., Mucoviscidose Aspect moléculaire., Transporteurs ABC., Mucoviscidose Génétique.

مصطلحات الفهرس: Article, Text

URL: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1271750/pdf/7600040a.pdf
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1271750/
https://doi.org/10.1038/sj.emboj.7600040

المؤلفون: Vinícius Buaes Dal'Maso, Lucas Mallmann, Marina Siebert, Laura Simon, Maria Luiza Saraiva-Pereira, Paulo de Tarso Roth Dalcin

المصدر: Jornal Brasileiro de Pneumologia, Vol 39, Iss 2, Pp 181-189 (2013)

مصطلحات موضوعية: Cystic fibrosis/diagnosis, Cystic fibrosis/genetics, Cystic fibrosis transmembrane conductance regulator, Diseases of the respiratory system, RC705-779

وصف الملف: electronic resource

Relation: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1806-37132013000200181&tlng=en; http://www.scielo.br/pdf/jbpneu/v39n2/1806-3713-jbpneu-39-2-0181.pdf; https://doaj.org/toc/1806-3756

URL الوصول: https://doaj.org/article/7dd46989eb9e44acbe4b3ca36ebc00cb

المؤلفون: Farhat, Raëd, El-Seedy, Ayman, Sari, Ariestya Indah Permata, Norez, Caroline, Pasquet, Marie-Claude, Becq, Frédéric, Kitzis, Alain, Ladevèze, Véronique

المساهمون: Cibles moléculaires et thérapeutiques de la maladie d'Alzheimer EA 3808 (CIMoTHeMA Poitiers ), Université de Poitiers = University of Poitiers (UP), Department of Genetics, Alexandria University Alexandrie, Signalisation et Transports Ioniques Membranaires (STIM Poitiers ), Université de Poitiers = University of Poitiers (UP)-Université de Tours (UT)-Centre National de la Recherche Scientifique (CNRS), Centre hospitalier universitaire de Poitiers = Poitiers University Hospital (CHU de Poitiers La Milétrie ), Service de Génétique Médicale CHU Poitiers

المصدر: ISSN: 1631-0691.

مصطلحات موضوعية: In cellulo, CFTR, p.Val322Ala mutation, functionality test, cellular localization, MESH: Cell Line, MESH: Cell Membrane / metabolism, MESH: Cystic Fibrosis / genetics, MESH: Cystic Fibrosis Transmembrane Conductance Regulator / genetics, MESH: Epithelial Cells / metabolism, MESH: Humans, MESH: Mutation, Missense / genetics, MESH: Protein Conformation, [SDV.BC.BC]Life Sciences [q-bio]/Cellular Biology/Subcellular Processes [q-bio.SC], [SDV.MHEP.PSR]Life Sciences [q-bio]/Human health and pathology/Pulmonology and respiratory tract

Relation: info:eu-repo/semantics/altIdentifier/pmid/28784578; hal-04541918; https://hal.science/hal-04541918; https://hal.science/hal-04541918/document; https://hal.science/hal-04541918/file/In%20cellulo%20analyses%20of%20the%20p.Val322Ala%20mutation%20on%20the%20CFTR.pdf; PUBMED: 28784578

الاتاحة: https://hal.science/hal-04541918
https://hal.science/hal-04541918/document
https://hal.science/hal-04541918/file/In%20cellulo%20analyses%20of%20the%20p.Val322Ala%20mutation%20on%20the%20CFTR.pdf
https://doi.org/10.1016/j.crvi.2017.06.001

المؤلفون: Ernesto Andrade, Jorge Alberto Galindo Díaz

المصدر: Biomédica: revista del Instituto Nacional de Salud, Vol 40, Iss 2, Pp 283-295 (2020)
Biomédica, Volume: 40, Issue: 2, Pages: 283-295, Published: 30 JUN 2020
Biomédica

مصطلحات موضوعية: 0301 basic medicine, asesoramiento genético, lcsh:Arctic medicine. Tropical medicine, Cystic Fibrosis, lcsh:RC955-962, Cost-Benefit Analysis, Cystic fibrosis/genetics, Artículo Original, DNA Mutational Analysis, Cystic Fibrosis Transmembrane Conductance Regulator, lcsh:Medicine, Genetic Counseling, Consanguinity, 030105 genetics & heredity, Colombia, Cystic fibrosis, Sensitivity and Specificity, General Biochemistry, Genetics and Molecular Biology, cost-effectiveness evaluation, Cftr gene, genetic testing, 03 medical and health sciences, 0302 clinical medicine, tamización de portadores genéticos, Bias, Per capita, medicine, Humans, pruebas genéticas, Probability, genetic counseling, business.industry, Genetic Carrier Screening, Decision Trees, lcsh:R, Diagnostic test, evaluación de costo-efectividad, Sequence Analysis, DNA, Patient Acceptance of Health Care, medicine.disease, genetic carrier screening, fibrosis quística/genética, 030220 oncology & carcinogenesis, Asymptomatic Diseases, Insurance, Health, Reimbursement, business, Demography, Systematic search

وصف الملف: text/html

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6489b5c5f1730bb5c50f1ff282cd0dde
https://revistabiomedica.org/index.php/biomedica/article/view/4816

المؤلفون: Mitropoulou, G., Balmpouzis, Z., Plojoux, J., Dotta-Celio, J., Sauty, A., Koutsokera, A.

المصدر: Respiratory medicine and research, vol. 82, pp. 100972

مصطلحات موضوعية: Humans, Cystic Fibrosis/drug therapy, Cystic Fibrosis/genetics, Pyrazoles/adverse effects, Adherence, Bronchiolitis, Elexacaftor–tezacaftor–ivacaftor, Withdrawal

Relation: info:eu-repo/semantics/altIdentifier/pmid/36371896; info:eu-repo/semantics/altIdentifier/eissn/2590-0412; https://serval.unil.ch/notice/serval:BIB_741FDE1E5F76

الاتاحة: https://serval.unil.ch/notice/serval:BIB_741FDE1E5F76
https://doi.org/10.1016/j.resmer.2022.100972

المؤلفون: Mitropoulou, G., Brandenberg, N., Hoehnel, S., Ceroni, C., Balmpouzis, Z., Blanchon, S., Dorta, G., Sauty, A., Koutsokera, A.

المصدر: The European respiratory journal, vol. 60, no. 6, pp. 2201341

مصطلحات موضوعية: Humans, Cystic Fibrosis/drug therapy, Cystic Fibrosis/genetics, Cystic Fibrosis Transmembrane Conductance Regulator/genetics, Genotype, Organoids, Lung, Mutation

Relation: info:eu-repo/semantics/altIdentifier/pmid/36423906; info:eu-repo/semantics/altIdentifier/eissn/1399-3003; https://serval.unil.ch/notice/serval:BIB_DA1096E6DF8A

الاتاحة: https://serval.unil.ch/notice/serval:BIB_DA1096E6DF8A
https://doi.org/10.1183/13993003.01341-2022

المؤلفون: Mitropoulou, Georgia, Balmpouzis, Zisis, Plojoux, Jérôme Pierre Olivier, Dotta-Celio, Jennifer, Sauty, Alain, Koutsokera, Angela

المصدر: ISSN: 2590-0412 ; Respiratory medicine and research, vol. 82 (2022) 100972.

مصطلحات موضوعية: info:eu-repo/classification/ddc/616, Adherence, Bronchiolitis, Elexacaftor–tezacaftor–ivacaftor, Withdrawal, Humans, Cystic Fibrosis / drug therapy, Cystic Fibrosis / genetics, Pyrazoles / adverse effects

Relation: info:eu-repo/semantics/altIdentifier/pmid/36371896; https://archive-ouverte.unige.ch/unige:175728; unige:175728

الاتاحة: https://archive-ouverte.unige.ch/unige:175728

المؤلفون: Jeansonne, Duane, Jeyaseelan, Samithamby

المصدر: School of Medicine Faculty Publications

مصطلحات موضوعية: Cystic Fibrosis/genetics, Cystic Fibrosis Transmembrane Conductance Regulator/genetics, Gain of Function Mutation, Humans, Inflammasomes/genetics/metabolism, Polymorphism, Genetic, Cardiovascular Diseases

Relation: https://digitalscholar.lsuhsc.edu/som_facpubs/1939

الاتاحة: https://digitalscholar.lsuhsc.edu/som_facpubs/1939