المؤلفون: Diletta Domenica Torres, Maria Luigia Lasorella, Maria Chironna, Giuseppe Stefano Netti, Mario Giordano, Elena Ranieri, Luisa Santangelo, Delio Gagliardi, Giovanni Piscopo, Leonardo Milella, Vincenza Carbone, Pasquale Conti, Luciana Losito, Federica Spadaccino, Antonio Trabacca, Elena Bresin

المصدر: Italian Journal of Pediatrics
Italian Journal of Pediatrics, Vol 47, Iss 1, Pp 1-8 (2021)

مصطلحات موضوعية: Pediatrics, medicine.medical_specialty, medicine.medical_treatment, Anti-Inflammatory Agents, Case Report, Methylprednisolone, RJ1-570, White matter, Polyneuropathies, medicine, Humans, Hemolytic uremic syndrome, Enterohemorrhagic Escherichia Coli, Child, Neurorehabilitation, Escherichia coli Infections, Rehabilitation, Plasma Exchange, Shiga-Toxigenic Escherichia coli, business.industry, Neurological Rehabilitation, Immunoglobulins, Intravenous, Hyporeflexia, Eculizumab, medicine.anatomical_structure, Peripheral nervous system, Child, Preschool, Hemolytic-Uremic Syndrome, Female, medicine.symptom, Complication, business, medicine.drug

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c25c468549f120c6aabb931fa45506fbTest
https://pubmed.ncbi.nlm.nih.gov/34488831Test

المؤلفون: Matteo Breno, Elisabetta Valoti, Marina Noris, Alessandra Cremaschi, Paraskevas Iatropoulos, Ariela Benigni, Antonio Amoroso, Marta Alberti, Giuseppe Remuzzi, Roberta Donadelli, Caterina Mele, Rossella Piras, Silvia Alizzi, Elena Bresin

المصدر: Frontiers in Immunology, Vol 10 (2019)
Frontiers in Immunology

مصطلحات موضوعية: Male, lcsh:Immunologic diseases. Allergy, 0301 basic medicine, autoantibodies, Immunology, Population, supercontrols, Compound heterozygosity, Autoantigens, Frameshift mutation, 03 medical and health sciences, factor H related 1, 0302 clinical medicine, Atypical hemolytic uremic syndrome, medicine, Humans, Immunology and Allergy, Genetic Predisposition to Disease, complement, Risk factor, Child, education, Original Research, education.field_of_study, atypical hemolytic uremic syndrome, factor H, genetic variants, CD46, business.industry, Haplotype, Genetic Variation, Blood Proteins, Complement System Proteins, Microangiopathic hemolytic anemia, medicine.disease, 030104 developmental biology, Child, Preschool, Complement Factor H, Female, lcsh:RC581-607, business, 030215 immunology

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::66ecb27c7ca0cb0278bc7def1e43a1afTest
https://doi.org/10.3389/fimmu.2019.00853Test

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

المؤلفون: Elena Bresin, Timothy H.J. Goodship, Marina Noris, Erica Rurali, Elisabetta Valoti, Marta Alberti, Santiago Rodríguez de Córdoba, Sheila Pinto, Véronique Frémeaux-Bacchi, Pilar Sánchez-Corral, Giuseppe Remuzzi, Jessica Caprioli, David Ribes

المصدر: Journal of the American Society of Nephrology; Vol 24

مصطلحات موضوعية: Adult, Male, 030232 urology & nephrology, Penetrance, Disease, Biology, Gene mutation, medicine.disease_cause, Membrane Cofactor Protein, Young Adult, 03 medical and health sciences, 0302 clinical medicine, Clinical Research, Risk Factors, Atypical hemolytic uremic syndrome, medicine, Humans, Child, Gene, Genotyping, Genetic Association Studies, Atypical Hemolytic Uremic Syndrome, 030304 developmental biology, 0303 health sciences, Mutation, Haplotype, Fibrinogen, Infant, Complement C3, Complement System Proteins, General Medicine, Middle Aged, medicine.disease, Pedigree, 3. Good health, Haplotypes, Nephrology, Child, Preschool, Complement Factor H, Hemolytic-Uremic Syndrome, Immunology, Female, Complement Factor B

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::edbc36e8dae2bc7c979d1cccb177c7fdTest
https://doi.org/10.1681/asn.2012090884Test

المؤلفون: Giuseppe Remuzzi, Serena Bettoni, Miriam Galbusera, Chiara Tentori, Hugo Yebenes, Giuseppina Spartà, Sara Gastoldi, Caterina Mele, Agustín Tortajada, Roberta Donadelli, Marta Alberti, Elena Bresin, Marina Noris

المصدر: Journal of immunology (Baltimore, Md. : 1950). 199(3)

مصطلحات موضوعية: 0301 basic medicine, Adult, Male, Endothelium, Adolescent, Immunology, Complement Pathway, Alternative, ADAMTS13 Protein, Complement C5a, Complement C3-C5 Convertases, Complement Membrane Attack Complex, 030204 cardiovascular system & hematology, 03 medical and health sciences, Young Adult, 0302 clinical medicine, Von Willebrand factor, hemic and lymphatic diseases, von Willebrand Factor, medicine, Immunology and Allergy, Humans, Child, biology, Purpura, Thrombotic Thrombocytopenic, Chemistry, Infant, Newborn, Endothelial Cells, Thrombosis, ADAMTS13, Complement system, Cell biology, 030104 developmental biology, medicine.anatomical_structure, Child, Preschool, Complement C3b, Microvessels, Alternative complement pathway, biology.protein, Female, Complement membrane attack complex, circulatory and respiratory physiology

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::52237ad8913b64b99e294e66c8f7d3f2Test
https://pubmed.ncbi.nlm.nih.gov/28652401Test

المؤلفون: Mitsuji Iwasa, Kenji Iijima, Yoshiyuki Kuroyanagi, Elena Bresin, Satoshi Yamakawa, Eiji Matsukuma, Takuji Yamada, Yoshimitsu Gotoh, Hiromu Mae, Takuhito Nagai, Nobuaki Takagi

المصدر: Clinical and Experimental Nephrology. 15:269-274

مصطلحات موضوعية: Male, Hemolytic anemia, Factor XII Deficiency, Physiology, Coagulation Factor XII, Complement factor I, Renal Dialysis, Physiology (medical), Atypical hemolytic uremic syndrome, medicine, Humans, Child, Atypical Hemolytic Uremic Syndrome, Autoantibodies, Factor XII, medicine.diagnostic_test, business.industry, medicine.disease, Coagulation, Nephrology, Complement Factor H, Hemolytic-Uremic Syndrome, Mutation, Immunology, Partial Thromboplastin Time, Fresh frozen plasma, business, circulatory and respiratory physiology, Partial thromboplastin time

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0d13f281c370d1085a4f01adb869254dTest
https://doi.org/10.1007/s10157-010-0375-zTest

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

المؤلفون: Erica Rurali, Federica Banterla, Miriam Galbusera, Marina Noris, Mary Underwood, Flora Peyvandi, Sara Gastoldi, Roberta Donadelli, Giuseppe Remuzzi, Elena Bresin

المصدر: Clinical journal of the American Society of Nephrology : CJASN. 10(11)

مصطلحات موضوعية: Adult, Male, medicine.medical_specialty, Adolescent, Epidemiology, ADAMTS13 Protein, Congenital Thrombotic Thrombocytopenic Purpura, Critical Care and Intensive Care Medicine, Young Adult, Von Willebrand factor, In vivo, hemic and lymphatic diseases, Internal medicine, medicine, Humans, Renal Insufficiency, Young adult, Child, Transplantation, Metalloproteinase, Thrombospondin, biology, Purpura, Thrombotic Thrombocytopenic, business.industry, Infant, Newborn, Infant, Original Articles, Middle Aged, ADAMTS13, In vitro, ADAM Proteins, Endocrinology, Nephrology, Child, Preschool, Mutation, biology.protein, Female, business

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5411b8dadee7cd6fd54d9d08ac6c4e6eTest
https://pubmed.ncbi.nlm.nih.gov/26342041Test

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

المؤلفون: Giuseppina Spartà, Andrea Zingg-Schenk, Thomas J. Neuhaus, Werner L. Pabst, Elena Bresin, Samuel Nef

المساهمون: University of Zurich, Spartà, Giuseppina

المصدر: Pediatric nephrology (Berlin, Germany). 28(7)

مصطلحات موضوعية: Nephrology, Male, medicine.medical_specialty, Heterozygote, Time Factors, 610 Medicine & health, Blood Component Transfusion, Complement factor I, Lower risk, urologic and male genital diseases, Gastroenterology, Membrane Cofactor Protein, Internal medicine, hemic and lymphatic diseases, Atypical hemolytic uremic syndrome, medicine, Humans, Genetic Predisposition to Disease, 2735 Pediatrics, Perinatology and Child Health, Child, Kidney transplantation, Atypical Hemolytic Uremic Syndrome, 2727 Nephrology, business.industry, CD46, Graft Survival, medicine.disease, Kidney Transplantation, Transplantation, surgical procedures, operative, Phenotype, Treatment Outcome, 10036 Medical Clinic, Complement Factor I, Pediatrics, Perinatology and Child Health, Immunology, Hemolytic-Uremic Syndrome, Mutation, Fresh frozen plasma, business, Immunosuppressive Agents

وصف الملف: PabstWL,_2014.pdf - application/pdf; ZORA_NL_91237.pdf - application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fb2159e86855b50072381180196ec380Test
https://pubmed.ncbi.nlm.nih.gov/23519521Test