المؤلفون: Angela Polizzi, Riccardina Tesse, Teresa Santostasi, Anna Diana, Antonio Manca, Vito Paolo Logrillo, Maria Domenica Cazzato, Maria Giuseppa Pantaleo, Lucio Armenio

المصدر: Genetics and Molecular Biology, Vol 34, Iss 3, Pp 416-420 (2011)

مصطلحات موضوعية: CFTR, complex allele, cystic fibrosis, phenotype, Genetics, QH426-470

وصف الملف: electronic resource

العلاقة: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572011000300008Test; https://doaj.org/toc/1415-4757Test; https://doaj.org/toc/1678-4685Test

الوصول الحر: https://doaj.org/article/2ab3bd9971924af790e5eecb91ae53c6Test

المؤلفون: Massimo Conese, Stefano Castellani, Silvia Lepore, Orazio Palumbo, Antonio Manca, Teresa Santostasi, Angela Maria Polizzi, Massimiliano Copetti, Sante Di Gioia, Valeria Casavola, Lorenzo Guerra, Anna Diana, Pasqualina Montemurro, Maria Addolorata Mariggiò, Crescenzio Gallo, Angela Bruna Maffione, Massimo Carella

المصدر: PLoS ONE, Vol 9, Iss 8, p e104080 (2014)

مصطلحات موضوعية: Medicine, Science

وصف الملف: electronic resource

العلاقة: http://europepmc.org/articles/PMC4118979?pdf=renderTest; https://doaj.org/toc/1932-6203Test

الوصول الحر: https://doaj.org/article/ee236adcb874467382314450b319bf1cTest

المؤلفون: Angela Polizzi, Riccardina Tesse, Teresa Santostasi, Anna Diana, Antonio Manca, Vito Paolo Logrillo, Maria Domenica Cazzato, Lucio Armenio

المساهمون: The Pennsylvania State University CiteSeerX Archives

المصدر: ftp://ftp.ncbi.nlm.nih.gov/pub/pmc/3b/14/Genet_Mol_Biol_2011_Jul_1_Jul-Sep_34(3)_416-420.tar.gz

وصف الملف: application/zip

العلاقة: http://citeseerx.ist.psu.edu/viewdoc/summary?doi=10.1.1.289.8457Test

المؤلفون: Luigi Ratclif, Crescenzio Gallo, Teresa Santostasi, Maria Giuseppina Pantaleo, Anna Diana, Antonio Manca, Angela Polizzi, Giuseppina Leonetti, Massimo Conese, Danila Rosa Iusco

المصدر: Journal of Human Genetics. 61:473-481

مصطلحات موضوعية: Male, 0301 basic medicine, medicine.medical_specialty, Cystic Fibrosis, DNA Mutational Analysis, Cystic Fibrosis Transmembrane Conductance Regulator, 030105 genetics & heredity, Compound heterozygosity, Cystic fibrosis, Gastroenterology, 03 medical and health sciences, Chlorides, Internal medicine, Molecular genetics, Genetics, medicine, Humans, Allele, Child, Codon, Allele frequency, Alleles, Genetics (clinical), Sequence Deletion, biology, Homozygote, Infant, Newborn, Infant, Bacterial Infections, Prognosis, medicine.disease, Molecular biology, Cystic fibrosis transmembrane conductance regulator, Respiratory Function Tests, C-Reactive Protein, Phenotype, 030104 developmental biology, Amino Acid Substitution, Statistical genetics, Child, Preschool, Mutation (genetic algorithm), biology.protein, Female, Biomarkers

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::55ffb63b76eca2febf29dfd49e9c00feTest
https://doi.org/10.1038/jhg.2016.15Test

المؤلفون: Giuseppina Leonetti, Angela Polizzi, Maria Favia, Crescenzio Gallo, Antonio Manca, Stefano Castellani, Teresa Santostasi, Lorenzo Guerra, Pasqualina Montemurro, Valeria Casavola, Susanna D’Oria, Massimo Conese, Maria Addolorata Mariggiò

المصدر: Pediatric pulmonology. 52(7)

مصطلحات موضوعية: 0301 basic medicine, Pulmonary and Respiratory Medicine, Adult, Male, medicine.medical_specialty, Adolescent, Cystic Fibrosis, Neutrophils, Cystic Fibrosis Transmembrane Conductance Regulator, Quinolones, Aminophenols, Cystic fibrosis, Chloride, Peripheral blood mononuclear cell, Ivacaftor, 03 medical and health sciences, FEV1/FVC ratio, Young Adult, 0302 clinical medicine, Chlorides, Internal medicine, Medicine, Humans, Respiratory function, Child, Chloride Channel Agonists, Sweat, biology, business.industry, medicine.disease, Cystic fibrosis transmembrane conductance regulator, Respiratory burst, Respiratory Function Tests, 030104 developmental biology, Endocrinology, C-Reactive Protein, 030228 respiratory system, Pediatrics, Perinatology and Child Health, Mutation, biology.protein, Leukocytes, Mononuclear, Female, business, medicine.drug

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::89645a123669feb9f928bc08f7d0dd92Test
https://pubmed.ncbi.nlm.nih.gov/28445004Test

المؤلفون: Lucio Armenio, Maria Giuseppa Pantaleo, Antonio Manca, Vito Paolo Logrillo, Riccardina Tesse, Angela Polizzi, Anna Diana, Teresa Santostasi, Maria Domenica Cazzato

المصدر: Genetics and Molecular Biology, Volume: 34, Issue: 3, Pages: 416-420, Published: 2011
Genetics and Molecular Biology
Genetics and Molecular Biology, Vol 34, Iss 3, Pp 416-420 (2011)

مصطلحات موضوعية: congenital, hereditary, and neonatal diseases and abnormalities, lcsh:QH426-470, phenotype, Short Communication, complex allele, Population, Biology, Gene mutation, medicine.disease_cause, Cystic fibrosis, cystic fibrosis, Exon, Genetics, medicine, CFTR, Allele, education, Molecular Biology, education.field_of_study, Mutation, medicine.disease, Phenotype, Cystic fibrosis transmembrane conductance regulator, lcsh:Genetics, Human and Medical Genetics, biology.protein

وصف الملف: text/html

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::60eb91bb5acad194684a4b85b999948cTest
https://doi.org/10.1590/s1415-47572011000300008Test

المؤلفون: Gian Luigi Marseglia, Angela Polizzi, Iolanda Chinellato, Fabio Cardinale, Teresa Santostasi, P. Trerotoli, M. S. Loffredo, Lucio Armenio, E. Nettis, Riccardina Tesse, D. di Monte

المصدر: Scopus-Elsevier

مصطلحات موضوعية: Adult, Male, Heterozygote, Adolescent, Immunology, Collectin, Blood Donors, Adolescent, Adult, Aged, Alleles, Blood Donors, Female, Genetic Variation, Heterozygote, Humans, Hypersensitivity, epidemiology/etiology/genetics, Male, Mannose-Binding Lectin, genetics, Middle Aged, Prevalence, Biology, Mannose-Binding Lectin, law.invention, Atopy, law, Genetic variation, Hypersensitivity, Prevalence, medicine, Humans, Immunology and Allergy, genetics, Allele, Genotyping, Alleles, Polymerase chain reaction, Aged, Mannan-binding lectin, Asthma, Pharmacology, epidemiology/etiology/genetics, Genetic Variation, Middle Aged, medicine.disease, Female

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::562dc90f3bc2356b027ab264450918f0Test
https://doi.org/10.1177/039463200802100329Test

المؤلفون: Fabio Cardinale, Antonio Manca, Lucio Armenio, Ombretta Silecchia, Francesco De Robertis, Riccardina Tesse, Teresa Santostasi, Angela Polizzi, L. Mappa

المصدر: Journal of Cystic Fibrosis. 7:329-332

مصطلحات موضوعية: Adult, Male, Pulmonary and Respiratory Medicine, Adolescent, Biology, medicine.disease_cause, Polymorphism, Single Nucleotide, Cystic fibrosis, Microbiology, Cohort Studies, Young Adult, medicine, Humans, Genetic Predisposition to Disease, Pseudomonas Infections, Colonization, Pediatrics, Perinatology, and Child Health, Child, Promoter Regions, Genetic, Pathogen, Pseudomonas aeruginosa, Haplotype, Gene polymorphism, Promoter, Middle Aged, medicine.disease, Interleukin-10, Interleukin 10, Haplotypes, Child, Preschool, Pediatrics, Perinatology and Child Health, Immunology, Female

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4ab551cd57c90dbb0e4628476efe619eTest
https://doi.org/10.1016/j.jcf.2007.11.004Test

المؤلفون: Manuela Seia, Angela Polizzi, Luigi Porcaro, Luciano Cavallo, Giuseppina Leonetti, Anna Diana, Riccardina Tesse, Teresa Santostasi, Antonio Manca

المصدر: Gene. 497:90-92

مصطلحات موضوعية: Male, Proband, congenital, hereditary, and neonatal diseases and abnormalities, Cystic Fibrosis, Cystic Fibrosis Transmembrane Conductance Regulator, Biology, Cystic fibrosis, Exon, Genetics, medicine, Humans, Multiplex ligation-dependent probe amplification, Allele, Gene, Sequence Deletion, Base Sequence, Homozygote, Infant, Newborn, General Medicine, medicine.disease, Molecular biology, Cystic fibrosis transmembrane conductance regulator, Mutation, Mutation (genetic algorithm), biology.protein

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a3f2886c95f509265b750f1722573e5bTest
https://doi.org/10.1016/j.gene.2012.01.061Test

المؤلفون: Antonio Manca, Stefano Castellani, Sante Di Gioia, Angela Bruna Maffione, Angela Polizzi, Valeria Casavola, Massimiliano Copetti, Anna Diana, Massimo Conese, Orazio Palumbo, Massimo Carella, Maria Addolorata Mariggiò, Crescenzio Gallo, Lorenzo Guerra, Silvia Lepore, Pasqualina Montemurro, Teresa Santostasi

المصدر: PLoS ONE
PLoS ONE, Vol 9, Iss 8, p e104080 (2014)

مصطلحات موضوعية: Male, Cystic Fibrosis, Pulmonology, Neutrophils, Microarrays, Antibiotics, lcsh:Medicine, Cystic fibrosis, Biochemistry, White Blood Cells, Database and Informatics Methods, Animal Cells, Medicine and Health Sciences, Medicine, lcsh:Science, Child, Lung, Immune Response, Oligonucleotide Array Sequence Analysis, Multidisciplinary, Respiratory burst, Anti-Bacterial Agents, Respiratory Function Tests, Up-Regulation, Real-time polymerase chain reaction, medicine.anatomical_structure, Bioassays and Physiological Analysis, Female, medicine.symptom, Cellular Types, Genetic Dominance, Research Article, Adult, Adolescent, medicine.drug_class, Bioinformatics, Immune Cells, Immunology, Down-Regulation, Inflammation, Real-Time Polymerase Chain Reaction, Research and Analysis Methods, Young Adult, Autosomal Recessive Diseases, Genetics, Humans, Demography, Clinical Genetics, Blood Cells, business.industry, Genome, Human, Gene Expression Profiling, lcsh:R, Sputum, Reproducibility of Results, Biology and Life Sciences, Cell Biology, medicine.disease, Fibrosis, Gene expression profiling, Case-Control Studies, Respiratory Infections, lcsh:Q, business, Biomarkers, Developmental Biology

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d5ab6275766b6448c58e7476096c5551Test
https://pubmed.ncbi.nlm.nih.gov/25084273Test