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1دورية أكاديمية
المؤلفون: Rossella Piras, Matteo Breno, Elisabetta Valoti, Marta Alberti, Paraskevas Iatropoulos, Caterina Mele, Elena Bresin, Roberta Donadelli, Paola Cuccarolo, Richard J. H. Smith, Ariela Benigni, Giuseppe Remuzzi, Marina Noris
المصدر: Frontiers in Genetics, Vol 12 (2021)
مصطلحات موضوعية: C3 glomerulopathy (C3G), immune complex-mediated membranoproliferative glomerulonephritis (IC-MPGN), factor H (FH), factor H-related proteins (FHRs), complement, copy number variations (CNVs), Genetics, QH426-470
وصف الملف: electronic resource
العلاقة: https://www.frontiersin.org/articles/10.3389/fgene.2021.670727/fullTest; https://doaj.org/toc/1664-8021Test
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2صورة
المؤلفون: Rossella Piras (5854076), Matteo Breno (469257), Elisabetta Valoti (5854082), Marta Alberti (9593648), Paraskevas Iatropoulos (5854079), Caterina Mele (232574), Elena Bresin (9593642), Roberta Donadelli (5854070), Paola Cuccarolo (616190), Richard J. H. Smith (10957842), Ariela Benigni (114455), Giuseppe Remuzzi (180748), Marina Noris (2278702)
مصطلحات موضوعية: Genetics, Genetic Engineering, Biomarkers, Developmental Genetics (incl. Sex Determination), Epigenetics (incl. Genome Methylation and Epigenomics), Gene Expression (incl. Microarray and other genome-wide approaches), Genome Structure and Regulation, Genomics, Genetically Modified Animals, Livestock Cloning, Gene and Molecular Therapy, C3 glomerulopathy (C3G), immune complex-mediated membranoproliferative glomerulonephritis (IC-MPGN), factor H (FH), factor H-related proteins (FHRs), complement, copy number variations (CNVs), structural variants (SVs), single molecule real-time (SMRT)
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3صورة
المؤلفون: Rossella Piras, Matteo Breno, Elisabetta Valoti, Marta Alberti, Paraskevas Iatropoulos, Caterina Mele, Elena Bresin, Roberta Donadelli, Paola Cuccarolo, Richard J. H. Smith, Ariela Benigni, Giuseppe Remuzzi, Marina Noris
مصطلحات موضوعية: Genetics, Genetic Engineering, Biomarkers, Developmental Genetics (incl. Sex Determination), Epigenetics (incl. Genome Methylation and Epigenomics), Gene Expression (incl. Microarray and other genome-wide approaches), Genome Structure and Regulation, Genomics, Genetically Modified Animals, Livestock Cloning, Gene and Molecular Therapy, C3 glomerulopathy (C3G), immune complex-mediated membranoproliferative glomerulonephritis (IC-MPGN), factor H (FH), factor H-related proteins (FHRs), complement, copy number variations (CNVs), structural variants (SVs), single molecule real-time (SMRT)
الإتاحة: https://doi.org/10.3389/fgene.2021.670727.s006Test
https://figshare.com/articles/figure/Image_6_CFH_and_CFHR_Copy_Number_Variations_in_C3_Glomerulopathy_and_Immune_Complex-Mediated_Membranoproliferative_Glomerulonephritis_TIF/14768352Test -
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المؤلفون: Daniel Helbling, Matteo Breno, Richard P. Lifton, Maria Neunhäuserer, Serena Bettoni, Giuseppe Remuzzi, Roberta Donadelli, Regan Veith, Elisabetta Valoti, Paraskevas Iatropoulos, Rossella Piras, Mathieu Lemaire, Marina Noris, Luisa Murer, David P. Bick, Caterina Mele, Véronique Frémeaux-Bacchi, Elena Bresin
المصدر: Clinical Journal of the American Society of Nephrology. 10:1011-1019
مصطلحات موضوعية: Male, Diacylglycerol Kinase, Heterozygote, Adolescent, Epidemiology, Blotting, Western, DNA Mutational Analysis, Molecular Sequence Data, Critical Care and Intensive Care Medicine, medicine.disease_cause, Compound heterozygosity, Predictive Value of Tests, Risk Factors, Atypical hemolytic uremic syndrome, medicine, Intronic Mutation, Humans, Genetic Predisposition to Disease, Child, Genetic Association Studies, Atypical Hemolytic Uremic Syndrome, Genetics, Transplantation, Mutation, Familial Atypical Hemolytic Uremic Syndrome, Base Sequence, business.industry, Homozygote, Infant, Heterozygote advantage, Microangiopathic hemolytic anemia, medicine.disease, Introns, Phenotype, MRNA Sequencing, Nephrology, Female, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b98ded59d52f2c1532d46a5a7edb425cTest
https://doi.org/10.2215/cjn.08520814Test -
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المؤلفون: Marisa Giani, Pierangela Castorina, Maurizio Clementi, A. La Manna, Francesco Brancati, Giorgia Mandrile, Rossella Tita, Dorella Del Prete, Sandro Feriozzi, E. Frate, Francesca Ariani, Nunzia Miglietti, Roberta Mancini, M. De Marchi, Daniela Giachino, G. Gai, Mirella Bruttini, Laura Dosa, A.R. Pinciaroli, Chiara Fallerini, Giorgio Piaggio, Alessandra Renieri, L. Diano, Francesca Mari, Elena Bresin, Gian Marco Ghiggeri
المصدر: Clinical Genetics. 86:252-257
مصطلحات موضوعية: Genetics, Inheritance (genetic algorithm), Pedigree chart, Disease, Biology, medicine.disease, DNA sequencing, Mutation (genetic algorithm), medicine, In patient, Alport syndrome, Gene, Genetics (clinical)
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::bfc477fcc2bdf24b5e1fac4a79517690Test
https://doi.org/10.1111/cge.12258Test -
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المؤلفون: Marina Noris, Friedhelm Hildebrandt, Federica Banterla, Peter F. Zipfel, Marta Todeschini, Federica Castelletti, Christine Skerka, Edgar A. Otto, Jessica Caprioli, Roberta Donadelli, Giuseppe Remuzzi, Elena Bresin, Rosangela Artuso, Rosa Maria Caruso, Alessandra Renieri
المصدر: Proceedings of the National Academy of Sciences. 105:2538-2543
مصطلحات موضوعية: Adult, Male, Models, Molecular, Pathology, medicine.medical_specialty, Adolescent, Glomerular deposits, Kidney Glomerulus, Lupus nephritis, Biology, Nephropathy, Pathogenesis, Glomerulopathy, medicine, Humans, Missense mutation, Genetic Predisposition to Disease, Child, Genetics, Multidisciplinary, Autosomal dominant trait, Middle Aged, Biological Sciences, medicine.disease, Penetrance, Recombinant Proteins, Fibronectins, Pedigree, Protein Structure, Tertiary, Gene Expression Regulation, Mutation, Female
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::83b83a0fbe4dc0af0ae06232525149ffTest
https://doi.org/10.1073/pnas.0707730105Test -
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المؤلفون: Jessica, Caprioli, Marina, Noris, Brioschi, Simona, Gaia, Pianetti, Federica, Castelletti, Paola, Bettinaglio, Caterina, Mele, Elena, Bresin, Linda, Cassis, Sara, Gamba, Francesca, Porrati, Sara, Bucchioni, Giuseppe, Monteferrante, Fang, Celia J., Liszewski, M. K., David, Kavanagh, Atkinson, John P., Giuseppe, Remuzzi, International Registry of, Familial, Hus/ttp
المصدر: Blood. 108:1267-1279
مصطلحات موضوعية: Male, Hemolytic anemia, Thrombotic microangiopathy, Genotype, Immunology, Blood Component Transfusion, Complement factor I, Biology, Hemostasis, Thrombosis, and Vascular Biology, Biochemistry, Shiga Toxin, Membrane Cofactor Protein, Plasma, Gene Frequency, Recurrence, Atypical hemolytic uremic syndrome, medicine, Humans, Kidney transplantation, Genetics, CD46, Cell Biology, Hematology, medicine.disease, Kidney Transplantation, Treatment Outcome, Complement Factor I, Complement Factor H, Protein Biosynthesis, Factor H, Complement C3b, Hemolytic-Uremic Syndrome, Mutation, Female, Protein Binding
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e27970be476bf42af02cae494a4417f6Test
https://doi.org/10.1182/blood-2005-10-007252Test -
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المؤلفون: Alessandra Renieri, Elena Bresin, Francesca Mari, Chiara Pescucci, Marco Seri, Rosanna Gusmano, Nunzia Miglietti, Cataldo Abaterusso, Paraskevi Vogiatzi, Elisa Scala, Rossella Caselli, Ilaria Longo
المساهمون: Pescucci C, Mari F, Longo I, Vogiatzi P, Caselli R, Scala E, Abaterusso C, Gusmano R, Seri M, Miglietti N, Bresin E, Renieri A
المصدر: Università degli Studi di Siena-IRIS
مصطلحات موضوعية: Adult, Collagen Type IV, Male, Genetic counseling, COL4A3, Nephritis, Hereditary, ALPORT SYNDROME, Kidney, urologic and male genital diseases, Asymptomatic, Autoantigens, medicine, Humans, COL4A4, Alport syndrome, Microhematuria, collagen IV genes, Child, COL4A3 gene, Aged, Genes, Dominant, Genetics, Aged, 80 and over, incomplete penetrance, Genetic heterogeneity, business.industry, COL4A4 gene, Glomerulonephritis, Middle Aged, medicine.disease, Penetrance, medicine.icd_9_cm_classification, Pedigree, Phenotype, inherited nephropathy, Nephrology, Mutation (genetic algorithm), Mutation, phenotypic variability, Female, autosomal-dominant Alport syndrome, medicine.symptom, business
وصف الملف: STAMPA
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ba4241beeae5010042e58d8f284c5d24Test
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المؤلفون: Marta Alberti, Sara Gastoldi, Luca Besso, Jesús García-Fernández, Marina Noris, Elena Bresin, Elisabetta Valoti, Santiago Rodríguez de Córdoba, Agustín Tortajada, Giuseppe Remuzzi
مصطلحات موضوعية: Male, Heterozygote, Erythrocytes, Mutant Chimeric Proteins, Biology, Binding, Competitive, Hemolysis, Clinical Research, Gene duplication, Atypical hemolytic uremic syndrome, medicine, Homologous chromosome, Complement C3b Inactivator Proteins, Animals, Humans, Gene, Atypical Hemolytic Uremic Syndrome, Genetics, Sheep, Cell Membrane, General Medicine, Microangiopathic hemolytic anemia, Complement System Proteins, Exons, medicine.disease, Fusion protein, Molecular biology, Kidney Transplantation, eye diseases, Pedigree, Transplantation, Nephrology, Complement Factor H, Female, Kidney Diseases
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a2e4106f2d9451264f9da5d22923f873Test
https://europepmc.org/articles/PMC4279739Test/ -
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المؤلفون: Sandro Rossetti, Alberto Turco, Elena Bresin, Stefano Corrà, Sabine Englisch, Pier Franco Pignatti
المصدر: Human Mutation. 10:164-167
مصطلحات موضوعية: Genetics, PKD1, Autosomal dominant polycystic kidney disease, Biology, medicine.disease, Nucleic Acid Heteroduplexes, Exon, Mutation (genetic algorithm), medicine, Polycystic kidney disease, TRPP Cation Channels, Gene, Genetics (clinical)
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::e0f53d23645549dc6ca8c6df60a31c7aTest
https://doi.org/10.1002Test/(sici)1098-1004(1997)10:2<164::aid-humu9>3.0.co;2-k