نتائج البحث - "Nardone A."

1

Testing single/combined clinical categories on 5110 Italian patients with developmental phenotypes to improve array‐based detection rate

المصدر: Molecular Genetics & Genomic Medicine
Molecular Genetics & Genomic Medicine, Vol 8, Iss 1, Pp n/a-n/a (2020)

مصطلحات موضوعية: 0301 basic medicine, detection rate, medicine.medical_specialty, lcsh:QH426-470, DNA Copy Number Variations, Developmental Disabilities, Genetics, Medical, 030105 genetics & heredity, Sensitivity and Specificity, Chromosomal microarray analysis (CMA), pathogenic CNV, 03 medical and health sciences, clinical marker identification, Internal medicine, Genetics, medicine, Humans, Genetic Testing, Copy-number variation, Molecular Biology, Societies, Medical, Genetics (clinical), Oligonucleotide Array Sequence Analysis, Chromosome Aberrations, business.industry, Microarray analysis techniques, Retrospective cohort study, Congenital malformations, Original Articles, Phenotype, Human genetics, lcsh:Genetics, 030104 developmental biology, Italy, Practice Guidelines as Topic, Original Article, Detection rate, business

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b4b6658258edd9595ab4d3e15be67e45Test
https://doi.org/10.1002/mgg3.1056Test

2

Loss-of-Function of the Voltage-Gated Sodium Channel NaV1.5 (Channelopathies) in Patients With Irritable Bowel Syndrome

المساهمون: Beyder, A, Mazzone, A, Strege, Pr, Tester, Dj, Saito, Ya, Bernard, Ce, Enders, Ft, Ek, We, Schmidt, Pt, Dlugosz, A, Lindberg, G, Karling, P, Ohlsson, B, Gazouli, M, Nardone, GERARDO ANTONIO PIO, Cuomo, Rosario, Usai Satta, P, Galeazzi, F, Neri, M, Portincasa, P, Bellini, M, Barbara, G, Camilleri, M, Locke GR, 3rd, Talley, Nj, D'Amato, M, Ackerman, Mj, Farrugia, G., Beyder, Arthur, Mazzone, Amelia, Strege, Peter R, Tester, David J, Saito, Yuri A, Bernard, Cheryl E, Enders, Felicity T, Ek, Weronica E, Schmidt, Peter T, Dlugosz, Aldona, Lindberg, Greger, Karling, Pontu, Ohlsson, Bodil, Gazouli, Maria, Nardone, Gerardo, Usai-Satta, Paolo, Galeazzi, Francesca, Neri, Matteo, Portincasa, Piero, Bellini, Massimo, Barbara, Giovanni, Camilleri, Michael, Locke, G Richard, Talley, Nicholas J, D'Amato, Mauro, Ackerman, Michael J, Farrugia, Gianrico

المصدر: Gastroenterology. 146:1659-1668

مصطلحات موضوعية: Male, Proband, Genetics, GI Motility, Polymorphism, Voltage-Gated Sodium Channel, Adolescent, Adult, Aged, Case-Control Studies, Channelopathies, Constipation, DNA Mutational Analysis, Diarrhea, Female, Genetic Predisposition to Disease, Genome-Wide Association Study, HEK293 Cells, Humans, Irritable Bowel Syndrome, Membrane Potentials, Middle Aged, NAV1.5 Voltage-Gated Sodium Channel, Phenotype, Prevalence, Prospective Studies, Risk Factors, Transfection, Voltage-Gated Sodium Channel Blockers, Young Adult, Gastrointestinal Motility, Mutation, Missense, Gastroenterology, Genome-wide association study, Nav1.5, HEK293 Cell, Missense mutation, Irritable bowel syndrome, biology, cardiovascular system, Case-Control Studie, Human, medicine.drug, congenital, hereditary, and neonatal diseases and abnormalities, medicine.medical_specialty, Membrane Potential, Article, Channelopathie, DNA Mutational Analysi, Genetic, Mexiletine, Internal medicine, medicine, cardiovascular diseases, Hepatology, business.industry, Risk Factor, Case-control study, medicine.disease, Prospective Studie, Endocrinology, Voltage-Gated Sodium Channel Blocker, Mutation, biology.protein, Missense, business

وصف الملف: STAMPA

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6de6db4556c406511980f0953168251fTest
https://doi.org/10.1053/j.gastro.2014.02.054Test

3

دورية أكاديمية

Molecular analysis using DHPLC of cystic fibrosis: increase of the mutation detection rate among the affected population in Central Italy

المؤلفون: Nardone Anna, Russo Silvia, Bengala Mario, Gambardella Stefano, D'Apice Maria, Lucidi Vincenzina, Sangiuolo Federica, Novelli Giuseppe

المصدر: BMC Medical Genetics, Vol 5, Iss 1, p 8 (2004)

مصطلحات موضوعية: Cystic fibrosis, CFTR mutation screening, DHPLC, Internal medicine, RC31-1245, Genetics, QH426-470

العلاقة: http://www.biomedcentral.com/1471-2350/5/8Test; https://doaj.org/toc/1471-2350Test; https://doaj.org/article/0fb26338a14448cda963101e178b319eTest

الإتاحة: https://doi.org/10.1186/1471-2350-5-8Test
https://doaj.org/article/0fb26338a14448cda963101e178b319eTest

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النص الكامل

4

دورية أكاديمية

In vitro correction of cystic fibrosis epithelial cell lines by small fragment homologous replacement (SFHR) technique

المؤلفون: Bonifazi Emanuela, Nardone Anna, Serafino Annalucia, Bruscia Emanuela, Sangiuolo Federica, Lais Monica, Gruenert Dieter C, Novelli Giuseppe

المصدر: BMC Medical Genetics, Vol 3, Iss 1, p 8 (2002)

مصطلحات موضوعية: gene therapy, cystic fibrosis transmembrane conductance regulator ( CFTR ), gene targeting, transmission electron microscopy (TEM), transfection, Internal medicine, RC31-1245, Genetics, QH426-470

العلاقة: http://www.biomedcentral.com/1471-2350/3/8Test; https://doaj.org/toc/1471-2350Test; https://doaj.org/article/fd8727020bee45af8befcf80f2c2f0edTest

الإتاحة: https://doi.org/10.1186/1471-2350-3-8Test
https://doaj.org/article/fd8727020bee45af8befcf80f2c2f0edTest

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النص الكامل

5

Plasmodium Infection Is Associated with Impaired Hepatic Dimethylarginine Dimethylaminohydrolase Activity and Disruption of Nitric Oxide Synthase Inhibitor/Substrate Homeostasis

المؤلفون: Climent Casals-Pascual, Allison K. Ikeda, Simon Correa, Glenn Nardone, Hans Ackerman, Shamanthi Jayasooriya, David J. Conway, Aubrey J. Cunnington, Oliver Billker, Matthew S. Alkaitis, Madi Njie, Augustine O. Ebonyi, Jessica H. Chertow, Joseph Okebe, Michael Walther

المساهمون: Universitat de Barcelona

المصدر: PLoS Pathogens, Vol 11, Iss 9, p e1005119 (2015)
Dipòsit Digital de la UB
Universidad de Barcelona
Recercat. Dipósit de la Recerca de Catalunya
instname
PLoS Pathogens

مصطلحات موضوعية: Arginine, Cell- och molekylärbiologi, Homeòstasi, 030204 cardiovascular system & hematology, Blood plasma, Pathogenesis, Mice, chemistry.chemical_compound, 0302 clinical medicine, Homeostasis, Biology (General), 0303 health sciences, 3. Good health, Nitric oxide synthase, medicine.anatomical_structure, Liver, Gambia, Arginine homeostasis, Research Article, medicine.medical_specialty, Endothelium, QH301-705.5, Immunology, Malària, Biology, Nitric Oxide, Microbiology, Amidohydrolases, Nitric oxide, 03 medical and health sciences, Virology, Internal medicine, parasitic diseases, Genetics, medicine, Animals, Humans, Plasmodium berghei, Molecular Biology, 030304 developmental biology, Plasma sanguini, RC581-607, biology.organism_classification, Malaria, Disease Models, Animal, Endocrinology, chemistry, Case-Control Studies, biology.protein, Parasitology, Endothelium, Vascular, Immunologic diseases. Allergy, Asymmetric dimethylarginine, Cell and Molecular Biology