المؤلفون: Silvia Gartner, Jordi Roca-Ferrer, Paula Fernandez-Alvarez, Isabel Lima, Sandra Rovira-Amigo, Elena García-Arumi, Eduardo F. Tizzano, César Picado

المصدر: Journal of Clinical Medicine, Vol 13, Iss 7, p 2050 (2024)

مصطلحات موضوعية: air trapping, bronchiectasis, CF transmembrane conductance regulator gene, cystic fibrosis, polymorphisms, prostaglandin E 2, Medicine

Relation: https://www.mdpi.com/2077-0383/13/7/2050; https://doaj.org/toc/2077-0383; https://doaj.org/article/683aa3c3da8644db814aca3862433b82

الاتاحة: https://doi.org/10.3390/jcm13072050
https://doaj.org/article/683aa3c3da8644db814aca3862433b82

المؤلفون: Anna O Sedova, Maria I Shtaut, Elizaveta E Bragina, Tatyana M Sorokina, Galina V Shmarina, Marina V Andreeva, Lyubov F Kurilo, Stanislav A Krasovskiy, Aleksander V Polyakov, Vyacheslav B Chernykh

المصدر: Asian Journal of Andrology, Vol 25, Iss 5, Pp 591-597 (2023)

مصطلحات موضوعية: congenital bilateral agenesia/aplasia of vas deferens, cystic fibrosis, cystic fibrosis transmembrane conductance regulator gene, semen, spermatozoa, Diseases of the genitourinary system. Urology, RC870-923

وصف الملف: electronic resource

Relation: http://www.ajandrology.com/article.asp?issn=1008-682X;year=2023;volume=25;issue=5;spage=591;epage=597;aulast=Sedova; https://doaj.org/toc/1008-682X; https://doaj.org/toc/1745-7262

URL الوصول: https://doaj.org/article/ce8be57f3df641f39b1392336f6cd004

المؤلفون: Falcão, Inês, Rodrigues dos Santos, Filipa, Neto Magalhães, Nuno, Cunha, Leonor

المصدر: NASCER E CRESCER - BIRTH AND GROWTH MEDICAL JOURNAL; Vol. 32 No. 3 (2023); 224-227 ; NASCER E CRESCER - BIRTH AND GROWTH MEDICAL JOURNAL; Vol. 32 N.º 3 (2023); 224-227 ; 2183-9417

مصطلحات موضوعية: aquagenic palmoplantar keratoderma, cystic fibrosis, cystic fibrosis transmembrane conductance regulator gene, genetic screening, f508del mutation, acroqueratodermia aquagénica palmoplantar, fibrose quística, gene regulador da condutância transmembranar da fibrose quística, mutação f508del, rastreio genético

وصف الملف: application/pdf

Relation: https://revistas.rcaap.pt/nascercrescer/article/view/26539/23488; https://revistas.rcaap.pt/nascercrescer/article/view/26539

الاتاحة: https://revistas.rcaap.pt/nascercrescer/article/view/26539

المؤلفون: Elisa De Paolis, Bruno Tilocca, Carla Lombardi, Maria De Bonis, Paola Concolino, Maria Elisabetta Onori, Claudio Ricciardi Tenore, Alessia Perrucci, Paola Roncada, Ettore Capoluongo, Andrea Urbani, Angelo Minucci, Concetta Santonocito

المصدر: Genes; Volume 14; Issue 8; Pages: 1608

مصطلحات موضوعية: cystic fibrosis, cystic fibrosis transmembrane conductance regulator gene, CFTR, next-generation sequencing, cystic fibrosis carriers

جغرافية الموضوع: agris

وصف الملف: application/pdf

Relation: Molecular Genetics and Genomics; https://dx.doi.org/10.3390/genes14081608

الاتاحة: https://doi.org/10.3390/genes14081608

المؤلفون: Avinash Gaikwad, Shagufta Khan, Seema Kadam, Rupin Shah, Vijay Kulkarni, Rangaswamy Kumaraswamy, Kaushiki Kadam, Vikas Dighe, Rahul Gajbhiye

المصدر: Indian Journal of Medical Research, Vol 152, Iss 6, Pp 575-583 (2020)

مصطلحات موضوعية: azoospermia - cystic fibrosis transmembrane conductance regulator gene - congenital bilateral absence of vas deferens - genetic counselling - intracytoplasmic sperm injection - male infertility, Medicine

Relation: http://www.ijmr.org.in/article.asp?issn=0971-5916;year=2020;volume=152;issue=6;spage=575;epage=583;aulast=Gaikwad; https://doaj.org/toc/0971-5916; https://doaj.org/article/5fc6fdd1c62f46c7995a3d266537cdee

الاتاحة: https://doi.org/10.4103/ijmr.IJMR_906_18
https://doaj.org/article/5fc6fdd1c62f46c7995a3d266537cdee

المؤلفون: Kaushiki M. Kadam, Shagufta A. Khan, Vikas Dighe, Vijay Kulkarni, Seema Kadam, Rupin Shah, Rahul K. Gajbhiye, Rangaswamy Kumaraswamy, Avinash Gaikwad

المصدر: The Indian Journal of Medical Research
Indian Journal of Medical Research, Vol 152, Iss 6, Pp 575-583 (2020)

مصطلحات موضوعية: Counseling, Male, Genetic counseling, Population, Physiology, intracytoplasmic sperm injection, Cystic Fibrosis Transmembrane Conductance Regulator, Genetic Counseling, Gene mutation, azoospermia - cystic fibrosis transmembrane conductance regulator gene - congenital bilateral absence of vas deferens - genetic counselling - intracytoplasmic sperm injection - male infertility, Cystic fibrosis, General Biochemistry, Genetics and Molecular Biology, male infertility, Male infertility, congenital bilateral absence of vas deferens, Vas Deferens, medicine, Humans, Genetic Testing, cystic fibrosis transmembrane conductance regulator gene, education, Infertility, Male, Genetic testing, Azoospermia, education.field_of_study, medicine.diagnostic_test, biology, business.industry, General Medicine, medicine.disease, Cystic fibrosis transmembrane conductance regulator, Mutation, biology.protein, Commentary, Medicine, Original Article, Female, business, genetic counselling

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::64dd0a4cea6cdd95267aecfd8d48fe0c
https://pubmed.ncbi.nlm.nih.gov/34145091

المؤلفون: Rehani, Maryann R, Marcus, Mary S, Harris, Anne B, Farrell, Philip M, Ren, Clement L

المصدر: GW Authored Works

مصطلحات موضوعية: cystic fibrosis transmembrane conductance regulator gene, genetics, immunoreactive trypsinogen, public health

Relation: https://hsrc.himmelfarb.gwu.edu/gwhpubs/2117; https://doi.org/10.1002/ppul.26279

الاتاحة: https://hsrc.himmelfarb.gwu.edu/gwhpubs/2117
https://doi.org/10.1002/ppul.26279

المؤلفون: Chao-Jen Lin, Shun-Ping Chang, Yu-Yuan Ke, Han-Yao Chiu, Lon-Yen Tsao, Ming Chen

المصدر: Pediatrics and Neonatology, Vol 49, Iss 6, Pp 240-244 (2008)

مصطلحات موضوعية: cystic fibrosis, cystic fibrosis transmembrane conductance regulator gene (CFTR gene), delta F508, Taiwanese, Pediatrics, RJ1-570

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S1875957209600188; https://doaj.org/toc/1875-9572

URL الوصول: https://doaj.org/article/79dd66ea83ed48eb93454f565e6bcedb

المؤلفون: Rahul Gajbhiye, Kaushiki Kadam, Aalok Khole, Avinash Gaikwad, Seema Kadam, Rupin Shah, Rangaswamy Kumaraswamy, Vrinda Khole

المصدر: Indian Journal of Medical Research, Vol 143, Iss 5, Pp 616-623 (2016)

مصطلحات موضوعية: Congenital bilateral absence of vas deferens - congenital absence of seminal vesicles - cystic fibrosis transmembrane conductance regulator gene - ectopic kidney - unilateral renal agenesis, Medicine

Relation: http://www.ijmr.org.in/article.asp?issn=0971-5916;year=2016;volume=143;issue=5;spage=616;epage=623;aulast=Gajbhiye; https://doaj.org/toc/0971-5916; https://doaj.org/article/71db8b22d4a14340b99d947fd210c617

الاتاحة: https://doi.org/10.4103/0971-5916.187110
https://doaj.org/article/71db8b22d4a14340b99d947fd210c617

المؤلفون: Girardet, A, Viart, V, Plaza, S, Daina, G, De Rycke, M, Des Georges, M, Fiorentino, F, Harton, G, Ishmukhametova, A, Navarro, J, Raynal, C, Renwick, P, Saguet, F, Schwarz, M, SenGupta, S, Tzetis, M, Roux, A-F, Claustres, M

المصدر: European Journal Of Human Genetics , 2016 (24) pp. 469-478. (2015)

مصطلحات موضوعية: Science & Technology, Life Sciences & Biomedicine, Biochemistry & Molecular Biology, Genetics & Heredity, Eshre Pgd Consortium, External Quality Assessment, Conductance Regulator Gene, Cftr-related Disorders, Mutation Nomenclature, Clinical-application, Vas-deferens, Recommendations, Amplification, Experience

وصف الملف: text

Relation: https://discovery.ucl.ac.uk/id/eprint/1480575/1/Girardet_The%20improvement%20of%20the%20best%20practice%20guidelines%20for%20preimplantation%20genetic%20diagnosis%20of%20cystic%20fibrosisVoR.pdf; https://discovery.ucl.ac.uk/id/eprint/1480575/

الاتاحة: https://discovery.ucl.ac.uk/id/eprint/1480575/1/Girardet_The%20improvement%20of%20the%20best%20practice%20guidelines%20for%20preimplantation%20genetic%20diagnosis%20of%20cystic%20fibrosisVoR.pdf
https://discovery.ucl.ac.uk/id/eprint/1480575/

المؤلفون: Alaa A. A. Aljabali, Nitin Charbe, Poonam Negi, Nikhil D. Amnerkar, Gaurav Gupta, B. Ramesh, Meenu Metha, Hamid A. Bakshi, Dinesh Kumar Chellappan, Saurabh C. Khadse, Garima Shrivastava, Saurabh Satija, Kamal Dua, Flavia C. Zacconi, Murtaza M. Tambuwala, Rajendran Satheeshkumar

المصدر: Acta Pharmaceutica Sinica. B

مصطلحات موضوعية: Small interfering RNA, PE-PCL-b-PNVCL, pentaerythritol polycaprolactone-block-poly(N-vinylcaprolactam), DSPE-MPEG, 1,2-distearoyl-sn-glycero-3-phosphoethanolamine-N-[methoxy(polyethylene glycol)-2000] (ammonium salt), Review, 0302 clinical medicine, micro RNA, MPEG, poly(ethylene glycol)-block-poly(l-lysine), PEI, General Pharmacology, Toxicology and Pharmaceutics, Polymer, Micelles, Cancer, DOPC, dioleylphosphatidyl choline, DSPE-PEG-Mal: 1,2-distearoyl-sn-glycero-3-phosphoethanolamine-N-[maleimide(polyethylene glycol)-2000] (mmmonium salt), EPR, 0303 health sciences, poly(acrylhydrazine)-block-poly(3-dimethylaminopropyl methacrylamide)-block-poly(acrylhydrazine), PCL, S–Au, thio‒gold, AQP-5, aquaporin-5, CMC, critical micelles concentration, DOTAP, N-[1-(2,3-dioleoyloxy)propyl]-N,N,N-trimethylammonium methyl-sulfate, Cancer treatment, APOB, apolipoprotein B, Nanomedicine, RNAi, RNA interference, poly(ethylene glycol)-block-poly(2-dimethylaminoethyl methacrylate)-block poly(pyrenylmethyl methacrylate), PEG-b-PLL, 030220 oncology & carcinogenesis, B-PEI, branched polyethlenimine, Atufect01, β-l-arginyl-2,3-l-diaminopropionicacid-N-palmityl-N-oleyl-amide trihydrochloride, CHEMS, cholesteryl hemisuccinate, DSGLA, N,N-dis-tearyl-N-methyl-N-2[N′-(N2-guanidino-l-lysinyl)] aminoethylammonium chloride, SEM, scanning electron microscope, messenger RNA, MTX, polycaprolactone-polyethylenimine, PDMA, BMA, butyl methacrylate, 03 medical and health sciences, TCC - Transitional cell carcinoma, RNAse III, ribonuclease III enzyme, methotrexate, NIR, ZEBOV, Zaire ebola virus, DSPC, 1,2-distearoyl-sn-glycero-3-phosphocholine, lysine ethyl ester diisocyanate, LPD/LPH, poly(N-isopropyl acrylamide), pentaerythritol polycaprolactone-block-poly(N-isopropylacrylamide), medicine.disease, CFTR, cystic fibrosis transmembrane conductance regulator gene, UV, ultraviolet, Cancer cell, Liposomes, PPES-b-PEO-b-PPES, poly(4-(phenylethynyl)styrene)-block-PEO-block-poly(4-(phenylethynyl)styrene), RES, reticuloendothelial system, hypoxia-inducible factor-1α, KSP, DMAEMA, 2-dimethylaminoethyl methacrylate, N-acetylgalactosamine, HIF-1α, DNA, deoxyribonucleic acid, USPIO, ultra-small superparamagnetic iron oxide nanoparticles, enhanced permeability and retention, Galnac, RISC, RNA-induced silencing complex, nanoparticle, NRP-1, near-infrared, NP, methoxypoly(ethylene glycol), MPEG-PCL, 1,3-propanediol, PEG-b-PDMAEMA-b-Ppy, neuropilin-1, PAA, PLGA, poly lactic-co-glycolic acid, methoxy polyethylene glycol-polycaprolactone, mRNA, poly(N,N-dimethylacrylamide), PDO, VEGF, vascular endothelial growth factor, PLL, poly-l-lysine, lipid-protamine-DNA/hyaluronic acid, MDR, DSPE, 1,2-distearoyl-sn-glycero-3-phosphorylethanolamine, Drug delivery, RGD, Arg-Gly-Asp peptide, SNALP, stable nucleic acid-lipid particles, poly(Ε-caprolactone)-polyethyleneglycol-poly(l-histidine), PCL-PEI, DOTMA, N-[1-(2,3-dioleyloxy)propy]-N,N,N-trimethylammoniumchloride, kinesin spindle protein, LDI, Small interfering RNA (siRNA), 2-propylacrylicacid, PAH-b-PDMAPMA-b-PAH, AZEMA, azidoethyl methacrylate, poly(ethylene oxide)-block-poly(2-(diethylamino)ethyl methacrylate)-stat-poly(methoxyethyl methacrylate), PEO-b-PCL, AuNPs, gold nanoparticles, TCC, transitional cell carcinoma, Tf, transferrin, medicine, multiple drug resistance, MiRNA, TEM, transmission electron microscopy, 030304 developmental biology, PLK-1, polo-like kinase 1, poly(ethylene oxide)-block-poly(Ε-caprolactone), PE-PCL-b-PNIPAM, poly(Ε-caprolactone), PCL-PEG, CHOL, cholesterol, PLA, poly-l-arginine, DC-Chol, 3β-[N-(N′,N′-dimethylaminoethane)carbamoyl]cholesterol, Trka, tropomyosin receptor kinase A, polyethylenimine, PEO-b-P(DEA-Stat-MEMA, DOX, doxorubicin, polycaprolactone-polyethyleneglycol, PCL-PEG-PHIS, DOPE, dioleylphosphatidyl ethanolamine, PTX, paclitaxel, PiRNA, piwi-interacting RNA, Cancer research, RNA, ribonucleic acid, SiRNA, short interfering rNA, Nanocarriers

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2071f422f1c1f8a688b18780d3afbc9c
https://pubmed.ncbi.nlm.nih.gov/33304780

المؤلفون: Falcão,Inês, Santos,Filipa Rodrigues dos, Magalhães,Nuno Neto, Cunha,Leonor

مصطلحات موضوعية: aquagenic palmoplantar keratoderma, cystic fibrosis, cystic fibrosis transmembrane conductance regulator gene, genetic screening, f508del mutation

وصف الملف: text/html

Relation: http://scielo.pt/scielo.php?script=sci_arttext&pid=S0872-07542023000300224

الاتاحة: http://scielo.pt/scielo.php?script=sci_arttext&pid=S0872-07542023000300224

المؤلفون: William Greenhalf, Louis de Mestier, Marie Rouanet, Louis Buscail, Vinciane Rebours, John P. Neoptolemos, Christopher Halloran, Claude Férec, Emmanuelle Masson, Nelly Muller, Philippe Ruszniewski, Philippe Lévy, Ioannis Sarantitis

المساهمون: Hôpital Beaujon [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Université Paris Diderot - Paris 7 (UPD7), University of Liverpool, Centre de Recherches en Cancérologie de Toulouse (CRCT), Université Toulouse III - Paul Sabatier (UT3), Université Fédérale Toulouse Midi-Pyrénées-Université Fédérale Toulouse Midi-Pyrénées-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Centre Hospitalier Universitaire de Toulouse (CHU Toulouse), 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), Centre Hospitalier Régional Universitaire de Brest (CHRU Brest), Universität Heidelberg [Heidelberg], CCSD, Accord Elsevier, ECLA, Institut Brestois Santé Agro Matière (IBSAM), Université de Brest (UBO)-Université de Brest (UBO)-EFS-Institut National de la Santé et de la Recherche Médicale (INSERM)-Institut Brestois Santé Agro Matière (IBSAM), Université de Brest (UBO)-Université de Brest (UBO)-EFS-Institut National de la Santé et de la Recherche Médicale (INSERM)

المصدر: EBioMedicine
EBioMedicine, 2019, 48, pp.581-591. ⟨10.1016/j.ebiom.2019.09.032⟩
EBioMedicine, Vol 48, Iss, Pp 581-591 (2019)
EBioMedicine, Elsevier, 2019, 48, pp.581-591. ⟨10.1016/j.ebiom.2019.09.032⟩

مصطلحات موضوعية: 0301 basic medicine, Male, Research paper, PDAC, pancreatic ductal adenocarcinoma, [SDV]Life Sciences [q-bio], lcsh:Medicine, Gastroenterology, 0302 clinical medicine, SPINK1, DM, diabetes mellitus, lcsh:R5-920, PRSS1, serine protease 1, Incidence, Diabetes, General Medicine, EPI, exocrine pancreatic insufficiency, Middle Aged, 3. Good health, Natural history, [SDV] Life Sciences [q-bio], Trypsin Inhibitor, Kazal Pancreatic, 030220 oncology & carcinogenesis, Cohort, Female, lcsh:Medicine (General), EUS, endoscopic ultrasound, Adult, medicine.medical_specialty, SPINK1, serine protease inhibitor kazal type 1, Adolescent, Genotype, Abbreviation list: CFTR, cystic fibrosis transmembrane conductance regulator gene, General Biochemistry, Genetics and Molecular Biology, 03 medical and health sciences, Young Adult, Germline mutation, SRP, SPINK1-related pancreatitis, CTRC, chymotrypsin C, Genetic, Internal medicine, Diabetes mellitus, Pancreatic cancer, medicine, Humans, Pancreatic exocrine insufficiency, Genetic Predisposition to Disease, CP, chronic pancreatitis, Exocrine pancreatic insufficiency, Germ-Line Mutation, business.industry, lcsh:R, Cancer, medicine.disease, IP, idiopathic pancreatitis, Pancreatic Neoplasms, 030104 developmental biology, Pancreatitis, Mutation, CAPS, international cancer of the pancreas screening, business, Follow-Up Studies

وصف الملف: application/pdf; application/vnd.openxmlformats-officedocument.wordprocessingml.document

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f95049fba1af3500bf3ba3382e6da679
https://hal.science/hal-03489263/document

المؤلفون: Seema Kadam, Rupin Shah, Kaushiki M. Kadam, Rahul K. Gajbhiye, Avinash Gaikwad, Rangaswamy Kumaraswamy, Vrinda V. Khole, Aalok Khole

المصدر: Indian Journal of Medical Research, Vol 143, Iss 5, Pp 616-623 (2016)
The Indian Journal of Medical Research

مصطلحات موضوعية: 0301 basic medicine, Infertility, Adult, Male, medicine.medical_specialty, Heterozygote, congenital, hereditary, and neonatal diseases and abnormalities, Congenital bilateral absence of vas deferens, unilateral renal agenesis, Cystic Fibrosis Transmembrane Conductance Regulator, lcsh:Medicine, Biology, Gene mutation, medicine.disease_cause, Kidney, Cystic fibrosis, Polymorphism, Single Nucleotide, Congenital bilateral absence of vas deferens - congenital absence of seminal vesicles - cystic fibrosis transmembrane conductance regulator gene - ectopic kidney - unilateral renal agenesis, General Biochemistry, Genetics and Molecular Biology, Congenital Abnormalities, 03 medical and health sciences, 0302 clinical medicine, Vas Deferens, Male Urogenital Diseases, Polymorphism (computer science), Internal medicine, ectopic kidney, medicine, Humans, cystic fibrosis transmembrane conductance regulator gene, Infertility, Male, Mutation, 030219 obstetrics & reproductive medicine, lcsh:R, Vas deferens, Heterozygote advantage, General Medicine, medicine.disease, Cystic fibrosis transmembrane conductance regulator, 030104 developmental biology, medicine.anatomical_structure, Endocrinology, biology.protein, Female, Kidney Diseases, Original Article, congenital absence of seminal vesicles

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::724a8a200d8e1ed9861ff02031600ab3
http://www.ijmr.org.in/article.asp?issn=0971-5916;year=2016;volume=143;issue=5;spage=616;epage=623;aulast=Gajbhiye

المؤلفون: C. Raynal, Magali Taulan-Cadars, Anne Bergougnoux, Mireille Claustres

المساهمون: Laboratoire de génétique des maladies rares. Pathologie moleculaire, etudes fonctionnelles et banque de données génétiques (LGMR), IFR3, Université Montpellier 1 (UM1)-Université Montpellier 1 (UM1)-Université de Montpellier (UM)-Institut National de la Santé et de la Recherche Médicale (INSERM), CHU Montpellier, Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier)

المصدر: Expert Review of Respiratory Medicine
Expert Review of Respiratory Medicine, Taylor & Francis, 2018, 12 (5), pp.415-426. ⟨10.1080/17476348.2018.1457438⟩

مصطلحات موضوعية: 0301 basic medicine, Pulmonary and Respiratory Medicine, bioinformatics analysis, Cystic Fibrosis, Population, Cystic fibrosis transmembrane conductance regulator gene, Cystic Fibrosis Transmembrane Conductance Regulator, Prenatal diagnosis, Computational biology, Preimplantation genetic diagnosis, Cystic fibrosis, [SDV.MHEP.PSR]Life Sciences [q-bio]/Human health and pathology/Pulmonology and respiratory tract, DNA sequencing, 03 medical and health sciences, symbols.namesake, high-throughput technologies, Prenatal Diagnosis, molecular diagnosis, medicine, Immunology and Allergy, Humans, Digital polymerase chain reaction, Genetic Testing, education, Sanger sequencing, education.field_of_study, Massive parallel sequencing, business.industry, variants interpretation, Public Health, Environmental and Occupational Health, massive parallel sequencing, Sequence Analysis, DNA, medicine.disease, 3. Good health, 030104 developmental biology, Mutation, symbols, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0def63ba61424b2736414370e1f6b4d9
https://pubmed.ncbi.nlm.nih.gov/29580110

المؤلفون: Akiko ISHIKAWA, Hiromi IMAZEKI, Katsuya MARUYAMA, Susumu HIGUCHI, Tomohiro OHMORI, Yasunori KOBAYASHI, Yuji NAKAMURA

المصدر: Internal Medicine. 2004, 43(12):1131

المؤلفون: Bergougnoux, Anne, Taulan-Cadars, Magali, Claustres, Mireille, Raynal, Caroline

المساهمون: Laboratoire de génétique des maladies rares. Pathologie moleculaire, etudes fonctionnelles et banque de données génétiques (LGMR), Université Montpellier 1 (UM1)-IFR3, Université Montpellier 1 (UM1)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Montpellier (UM), CHU Montpellier, Centre Hospitalier Régional Universitaire Montpellier (CHRU Montpellier)

المصدر: ISSN: 1747-6348.

مصطلحات موضوعية: massive parallel sequencing, molecular diagnosis, variants interpretation, Cystic fibrosis transmembrane conductance regulator gene, bioinformatics analysis, high-throughput technologies, [SDV.MHEP.PSR]Life Sciences [q-bio]/Human health and pathology/Pulmonology and respiratory tract

Relation: info:eu-repo/semantics/altIdentifier/pmid/29580110; hal-02327010; https://hal.science/hal-02327010; PUBMED: 29580110

الاتاحة: https://hal.science/hal-02327010
https://doi.org/10.1080/17476348.2018.1457438

المؤلفون: Szu-Hung Chu, Chieh-Han Cheng, Chia-Yi Lo, Ling-Chun Liu, Wei Te Lei, Shyh-Dar Shyur, Li-Ching Fang, Li-Hsin Huang, Chen-Kuan Chen, Yu-Hsuan Kao

المصدر: Journal of Microbiology, Immunology and Infection. 47(4):358-361

مصطلحات موضوعية: Adult, Male, Microbiology (medical), medicine.medical_specialty, Adolescent, Cystic Fibrosis, Genotype, Taiwan, Cystic Fibrosis Transmembrane Conductance Regulator, Gastroenterology, Cystic fibrosis, Young Adult, Internal medicine, Immunology and Microbiology(all), medicine, Tobramycin, Humans, Immunology and Allergy, Child, Cystic fibrosis transmembrane conductance regulator gene (CFTR gene), Regulator gene, General Immunology and Microbiology, biology, business.industry, General Medicine, medicine.disease, Cystic fibrosis transmembrane conductance regulator, Pedigree, Endocrinology, Infectious Diseases, Mutation (genetic algorithm), Mutation, biology.protein, Female, business, Novel mutation, medicine.drug, Rare disease

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4bf0cae57009eb49785237180c816211

المؤلفون: Langron, Emily, Simone, Michela I., Delalande, Clémence M. S., Raymond, Jean-Louis, Selwood, David L., Vergani, Paola

المساهمون: The University of Newcastle. Faculty of Science, School of Environmental and Life Sciences

مصطلحات موضوعية: cystic fibrosis, cystic fibrosis transmembrane conductance regulator gene, CFTR gene, F508del‐CFTR, fluorescence assays, cellular localization, pilot drug screen

Relation: British Journal of Pharmacology Vol. 174, Issue 7, p. 525-539; http://hdl.handle.net/1959.13/1397598; uon:34320

الاتاحة: http://hdl.handle.net/1959.13/1397598

المؤلفون: Edmondson, C, Davies, JC

المصدر: 183 ; 170

مصطلحات موضوعية: CF transmembrane conductance regulator gene, cystic fibrosis, treatment

Relation: Therapeutic Advances in Chronic Disease; http://hdl.handle.net/10044/1/42744; https://dx.doi.org/10.1177/2040622316641352

الاتاحة: http://hdl.handle.net/10044/1/42744
https://doi.org/10.1177/2040622316641352