| Nome |
# |
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Primary hyperoxaluria Type 1: indications for screening and guidance for diagnosis and treatment, file e27ce426-d46d-2581-e053-d805fe0acbaa
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1.001
|
|
Discovery of new risk loci for IgA nephropathy implicates genes involved in immunity against intestinal pathogens., file e27ce428-03ea-2581-e053-d805fe0acbaa
|
642
|
|
Impact of viral eradication with sofosbuvir-based therapy on the outcome of post-transplant hepatitis C with severe fibrosis, file e27ce42a-c3b5-2581-e053-d805fe0acbaa
|
425
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|
A novel defect in mitochondrial p53 accumulation following DNA damage confers apoptosis resistance in Ataxia Telangiectasia and Nijmegen Breakage Syndrome T-cells, file e27ce426-cb41-2581-e053-d805fe0acbaa
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352
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|
Phosphorylated alpha-enolase induces autoantibodies in HLA-DR8 pancreatic cancer patients and triggers HLA-DR8 restricted T-cell activation., file e27ce427-9e0e-2581-e053-d805fe0acbaa
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342
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Updated genetic testing of Italian patients referred with a clinical diagnosis of primary hyperoxaluria, file e27ce428-9a90-2581-e053-d805fe0acbaa
|
330
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|
Genome-wide association study identifies susceptibility loci for IgA nephropathy, file e27ce428-08ee-2581-e053-d805fe0acbaa
|
285
|
|
NADPH oxidase 2 (NOX2) enzyme activation in patients with chronic inflammatory demyelinating polyneuropathy, file e27ce428-bd81-2581-e053-d805fe0acbaa
|
273
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|
Autosomal dominant Alport syndrome: molecular analysis of the COL4A4 gene and clinical outcome, file e27ce426-b37e-2581-e053-d805fe0acbaa
|
270
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|
Quantitation of HBV cccDNA in anti-HBc-positive liver donors by droplet digital PCR: A new tool to detect occult infection, file e27ce42d-2ee7-2581-e053-d805fe0acbaa
|
231
|
|
Carrying on with liver transplantation during the COVID-19 emergency: Report from Piedmont region, file e27ce431-3513-2581-e053-d805fe0acbaa
|
191
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|
Early reduced liver graft survival in hepatitis C recipients identified by two combined genetic markers, file e27ce428-f18b-2581-e053-d805fe0acbaa
|
190
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|
OI0362 Functional analysis of interferon-γ and tumor necrosis factor α polymorphisms in lichen planus, file e27ce427-4ff1-2581-e053-d805fe0acbaa
|
167
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The genetic architecture of membranous nephropathy and its potential to improve non-invasive diagnosis, file e27ce42f-8cad-2581-e053-d805fe0acbaa
|
167
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|
Geographic Differences in Genetic Susceptibility to IgA Nephropathy: GWAS Replication Study and Geospatial Risk Analysis., file e27ce428-01d6-2581-e053-d805fe0acbaa
|
166
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Modeling the effect of 3 missense AGXT mutations on dimerization of the AGT enzyme in primary hyperoxaluria type I, file e27ce426-c739-2581-e053-d805fe0acbaa
|
163
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|
Urinary secretion and extracellular aggregation of mutant uromodulin isoforms., file e27ce426-dd26-2581-e053-d805fe0acbaa
|
159
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The rediscovery of uromodulin (Tamm-Horsfall protein): from tubulointerstitial nephropathy to chronic kidney disease, file e27ce428-0953-2581-e053-d805fe0acbaa
|
158
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|
Changing trends in corneal graft surgery: A ten-year review, file e27ce428-f1c4-2581-e053-d805fe0acbaa
|
153
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|
Human Liver Stem Cells Suppress T-Cell Proliferation, NK Activity, and Dendritic Cell Differentiation, file e27ce42a-98b2-2581-e053-d805fe0acbaa
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152
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|
The cyclin-dependent kinase inhibitor 5, 6-dichloro-1-beta-D-ribofuranosylbenzimidazole induces nongenotoxic, DNA replication-independent apoptosis of normal and leukemic cells, regardless of their p53 status, file e27ce426-b41a-2581-e053-d805fe0acbaa
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151
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Human mesenchymal stem cell-derived microvesicles modulate T cell response to islet antigen glutamic acid decarboxylase in patients with type 1 diabetes, file e27ce427-9ffd-2581-e053-d805fe0acbaa
|
145
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|
Donor CYP3A5 genotype influences tacrolimus disposition on the first day after paediatric liver transplantation, file e27ce42b-90c9-2581-e053-d805fe0acbaa
|
144
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|
Exome sequencing in children of women with skewed X-inactivation identifies atypical cases and complex phenotypes, file e27ce42b-1580-2581-e053-d805fe0acbaa
|
136
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|
Genome-Wide Association Study Identifies Risk Variants for Lichen Planus in Patients With Hepatitis C Virus Infection, file e27ce42c-d3e8-2581-e053-d805fe0acbaa
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113
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|
Clinical exome sequencing is a powerful tool in the diagnostic flow of monogenic kidney diseases: an Italian experience, file e27ce432-5efb-2581-e053-d805fe0acbaa
|
108
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|
LOSS OF HLA-A IN ACUTE MYELOID LEUKEMIA TRANSMITTED BY THE DONOR TO LIVER AND KIDNEY GRAFT RECIPIENTS, file e27ce431-34e5-2581-e053-d805fe0acbaa
|
99
|
|
Rare Functional Variants in Complement Genes and Anti-FH Autoantibodies-Associated aHUS, file e27ce42e-28e1-2581-e053-d805fe0acbaa
|
98
|
|
Genetic and Clinical Predictors of Age of ESKD in Individuals With Autosomal Dominant Tubulointerstitial Kidney Disease Due to UMOD Mutations, file e27ce430-8893-2581-e053-d805fe0acbaa
|
96
|
|
Detection of MBL-2 gene expression in intestinal biopsies of celiac patients by in situ reverse transcription polymerase chain reaction, file e27ce42d-15e7-2581-e053-d805fe0acbaa
|
90
|
|
Genome-Wide Study Updates in the International Genetics and Translational Research in Transplantation Network (iGeneTRAiN), file e27ce42e-f907-2581-e053-d805fe0acbaa
|
88
|
|
HLA typing in lung transplantation: does high resolution fit all?, file e27ce42f-50e2-2581-e053-d805fe0acbaa
|
87
|
|
Human liver stem cell-derived extracellular vesicles reduce injury in a model of normothermic machine perfusion of rat livers previously exposed to a prolonged warm ischemia, file e27ce432-9ee2-2581-e053-d805fe0acbaa
|
69
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Intrahepatic Administration of Human Liver Stem Cells in Infants with Inherited Neonatal-Onset Hyperammonemia: A Phase I Study, file e27ce430-eff2-2581-e053-d805fe0acbaa
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68
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Urgent liver transplantation soon after recovery from COVID-19 in a patient with decompensated liver cirrhosis, file e27ce431-4c93-2581-e053-d805fe0acbaa
|
68
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The frequency of rare and monogenic diseases in pediatric organ transplant recipients in Italy, file e27ce432-7fdb-2581-e053-d805fe0acbaa
|
68
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|
Severe Passenger Lymphocyte Syndrome and Acute Rejection in ABO Compatible but non-Identical Liver Transplant Recipient from Hepatitis C Viremic Donor, file e27ce431-294b-2581-e053-d805fe0acbaa
|
60
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Genome-wide association analyses define pathogenic signaling pathways and prioritize drug targets for IgA nephropathy, file a1c475dd-99ad-41b8-804a-4b86fe74b72a
|
49
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A Multistep, Consensus-Based Approach to Organ Allocation in Liver Transplantation: Toward a "Blended Principle Model", file e27ce428-cfcb-2581-e053-d805fe0acbaa
|
43
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First considerations on the SARS-CoV-2 epidemic in the Dialysis Units of Piedmont and Aosta Valley, Northern Italy, file e27ce430-7a3c-2581-e053-d805fe0acbaa
|
41
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NGS e HLA: l'esperienza di un singolo centro, file e27ce428-b015-2581-e053-d805fe0acbaa
|
35
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|
Adult-onset CblC deficiency: a challenging diagnosis involving different adult clinical specialists, file e27ce435-1057-2581-e053-d805fe0acbaa
|
35
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Successful urgent liver retransplantation for donor-transmitted hepatocellular carcinoma, file e27ce42a-3073-2581-e053-d805fe0acbaa
|
26
|
|
Pharmacogenetics as a tool to tailor the immunosuppressive therapy: focus on azathioprine and tacrolimus, file e27ce429-34c9-2581-e053-d805fe0acbaa
|
25
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|
T cell neoepitope discovery in colorectal cancer by high throughput profiling of somatic mutations in expressed genes, file e27ce42a-5364-2581-e053-d805fe0acbaa
|
24
|
|
Genomic Mismatch at LIMS1 Locus and Kidney Allograft Rejection, file e27ce432-505c-2581-e053-d805fe0acbaa
|
23
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Centenarian Livers: Very Long-Term outcomes of very old grafts, file e27ce42d-1797-2581-e053-d805fe0acbaa
|
19
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Interleukin-4RA gene polymorphism is associated with oral mucous membrane pemphigoid., file e27ce426-df26-2581-e053-d805fe0acbaa
|
16
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T cell neoepitope discovery in colorectal cancer by high throughput profiling of somatic mutations in expressed genes, file e27ce432-5061-2581-e053-d805fe0acbaa
|
15
|
|
A Unique Presentation of Bilateral Chorioretinal Atrophy, file 6161b576-446b-40da-81a7-65df5bf41fb7
|
13
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Validation of a Simple, Rapid, and Cost-Effective Method for Acute Rejection Monitoring in Lung Transplant Recipients, file 90c1d695-f7e0-4f57-8c84-686006871b2c
|
13
|
|
HSC transplant: role of amino acid substitutions in antigen binding sites, file e27ce435-5f62-2581-e053-d805fe0acbaa
|
12
|
|
Adeno-associated virus type 5 infection via PDGFRα is associated with Interstitial lung disease in systemic sclerosis and generates composite peptides and epitopes recognized by the agonistic immunoglobulins present in patients with systemic sclerosis, file dd790c4e-0f93-4876-966d-3e0383a2a685
|
9
|
|
Human mesenchymal stem cell-derived microvesicles modulate T cell response to islet antigen glutamic acid decarboxylase in patients with type 1 diabetes, file e27ce427-0f48-2581-e053-d805fe0acbaa
|
9
|
|
High Throughput Genetic Characterisation of Caucasian Patients Affected by Multi-Drug Resistant Rheumatoid or Psoriatic Arthritis, file 954ba65d-dae8-4902-8bf6-f8a753d3a29b
|
6
|
|
Exome sequencing in children of women with skewed X-inactivation identifies atypical cases and complex phenotypes, file e27ce42b-157f-2581-e053-d805fe0acbaa
|
6
|
|
First considerations on the SARS-CoV-2 epidemic in the Dialysis Units of Piedmont and Aosta Valley, Northern Italy, file e27ce42f-f4b4-2581-e053-d805fe0acbaa
|
6
|
|
Combined liver kidney transplantation for primary hyperoxaluria type 1: Will there still be a future? Current transplantation strategies and monocentric experience, file e27ce435-9921-2581-e053-d805fe0acbaa
|
6
|
|
T cell neoepitope discovery in colorectal cancer by high throughput profiling of somatic mutations in expressed genes, file e27ce42a-06b1-2581-e053-d805fe0acbaa
|
5
|
|
Quantitation of HBV cccDNA in anti-HBc-positive liver donors by droplet digital PCR: A new tool to detect occult infection, file e27ce42c-ffa8-2581-e053-d805fe0acbaa
|
5
|
|
Impact of viral eradication with sofosbuvir-based therapy on the outcome of post-transplant hepatitis C with severe fibrosis, file e27ce42a-c3b6-2581-e053-d805fe0acbaa
|
4
|
|
Promoter polymorphisms of the CD14 gene in Italian patients with coeliac disease, file e27ce42d-15e9-2581-e053-d805fe0acbaa
|
4
|
|
Strong protective effect of the APOL1 p.N264K variant against G2-associated focal segmental glomerulosclerosis and kidney disease, file 1ec83004-b113-4294-88cd-5c374a2ff53d
|
3
|
|
Trapianto di CSE: ruolo delle sostituzioni aminoacidiche nei siti di legame dell’antigene, file 3fe5b6ea-acfb-4733-8a0c-b8c127aff43f
|
3
|
|
HLA-DPB1*13:01 associates with enhanced, and KIR2DS4*001 with diminished protection from developing severe COVID-19, file 46a8152c-d617-4df8-ae3d-ed2fd84fef78
|
2
|
|
Trapianto di CSE: ruolo delle sostituzioni aminoacidiche nei siti di legame dell’antigene, file 5845e105-7295-4017-8318-a441f4c537d5
|
2
|
|
Relevance of next generation sequencing (NGS) data re-analysis in the diagnosis of monogenic diseases leading to organ failure, file bb50c7dd-6c49-4866-8b0d-b799478a2a8e
|
2
|
|
Liver Transplantation in Defects of Cholesterol Biosynthesis: The Case of Lathosterolosis, file e27ce426-f793-2581-e053-d805fe0acbaa
|
2
|
|
Successful urgent liver retransplantation for donor-transmitted hepatocellular carcinoma, file e27ce42a-697e-2581-e053-d805fe0acbaa
|
2
|
|
A study of host defence peptide β-defensin 3 in primates, file e27ce42c-ef4b-2581-e053-d805fe0acbaa
|
2
|
|
HLA-DRB1 mismatch-based identification of donor-derived cell free DNA (dd-cfDNA) as a marker of rejection in heart transplant recipients: A single-institution pilot study., file e27ce431-ce63-2581-e053-d805fe0acbaa
|
2
|
|
Long-Term Outcomes and Discard Rate of Kidneys by Decade of Extended Criteria Donor Age, file e27ce432-508e-2581-e053-d805fe0acbaa
|
2
|
|
Evaluation of Graft Fibrosis, Inflammation and Donor-specific Antibodies at Protocol Liver Biopsies in Pediatric Liver Transplant Patients: a Single Center Experience, file e27ce432-e533-2581-e053-d805fe0acbaa
|
2
|
|
Favorable experience of transplant strategy including liver grafts from COVID-19 donors: One-year follow-up results, file 71fb64af-61e9-46f3-a32b-d9a8b5fd094f
|
1
|
|
NADPH oxidase (NOX2) activity is a modifier of survival in ALS., file e27ce427-0a3c-2581-e053-d805fe0acbaa
|
1
|
|
[Genetics in the study of HIV infection]., file e27ce427-0a3f-2581-e053-d805fe0acbaa
|
1
|
|
A Multistep, Consensus-Based Approach to Organ Allocation in Liver Transplantation: Toward a "Blended Principle Model", file e27ce428-d3dd-2581-e053-d805fe0acbaa
|
1
|
|
Urinary secretion and extracellular aggregation of mutant uromodulin isoforms., file e27ce429-a0f4-2581-e053-d805fe0acbaa
|
1
|
|
Severe course of primary hyperoxaluria and renal failure after domino hepatic transplantation, file e27ce42a-9afb-2581-e053-d805fe0acbaa
|
1
|
|
Two Combined Genetic Markers Identify Hepatitis C Recipients With a Lower Graft Survival From The Earliest Post-Transplant Period, file e27ce42a-d30e-2581-e053-d805fe0acbaa
|
1
|
|
A rapid flow cytometry test based on histone H2AX phosphorylation for the sensitive and specific diagnosis of ataxia telangiectasia, file e27ce42b-f8ea-2581-e053-d805fe0acbaa
|
1
|
|
Centenarian Livers: Very Long-Term outcomes of very old grafts, file e27ce42c-edae-2581-e053-d805fe0acbaa
|
1
|
|
Infections in liver and lung transplant recipients: a national prospective cohort, file e27ce42c-edb2-2581-e053-d805fe0acbaa
|
1
|
|
An Italian dominant FALS Leu144Phe SOD1 mutation: genotype-phenotype correlation, file e27ce42c-ef47-2581-e053-d805fe0acbaa
|
1
|
|
Towards the identification of (a) gene(s) for autosomal dominant medullary cystic kidney disease, file e27ce42c-ef49-2581-e053-d805fe0acbaa
|
1
|
|
AGXT gene mutations and their influence on clinical heterogeneity of type 1 primary hyperoxaluria, file e27ce42c-ef4e-2581-e053-d805fe0acbaa
|
1
|
|
Allelism of MCKD, FJHN and GCKD caused by impairment of uromodulin export dynamics, file e27ce42d-0908-2581-e053-d805fe0acbaa
|
1
|
|
Molecular analysis of uromodulin and SAH genes, positional candidates for autosomal dominant medullary cystic kidney disease linked to 16p12, file e27ce42d-090b-2581-e053-d805fe0acbaa
|
1
|
|
Primary hyperoxaluria: genotype-phenotype correlation, file e27ce42d-090c-2581-e053-d805fe0acbaa
|
1
|
|
Effects of maturation on RNA transcription and protein expression of four MRP genes in human placenta and in BeWo cells, file e27ce42d-090f-2581-e053-d805fe0acbaa
|
1
|
|
Variant mannose-binding lectin alleles are associated with celiac disease, file e27ce42d-0aae-2581-e053-d805fe0acbaa
|
1
|
|
Single-tube genotyping of MBL-2 polymorphisms using melting temperature analysis, file e27ce42d-0ab0-2581-e053-d805fe0acbaa
|
1
|
|
Structural and functional characterization of hBD-1(Ser35), a peptide deduced from a DEFB1 polymorphism, file e27ce42d-0ab2-2581-e053-d805fe0acbaa
|
1
|
|
Quantitative in situ detection of high-risk human papillomavirus in cytological specimens by SYBR Green I fluorescent labeling, file e27ce42d-0ab4-2581-e053-d805fe0acbaa
|
1
|
|
A reliable screening procedure for coeliac disease in clinical practice, file e27ce42d-0ab6-2581-e053-d805fe0acbaa
|
1
|
|
Genomic organization and chromosome mapping of the human homeobox gene HHEX, file e27ce42d-0ab7-2581-e053-d805fe0acbaa
|
1
|
|
Medullary cystic kidney disease: past and present, file e27ce42d-0ab8-2581-e053-d805fe0acbaa
|
1
|
|
Microarray-based genetics of cardiac malformations, file e27ce42d-0ab9-2581-e053-d805fe0acbaa
|
1
|
|
ALS with variable phenotypes in a six-generation family caused by leu144phe mutation in the SOD1 gene, file e27ce42d-0abb-2581-e053-d805fe0acbaa
|
1
|
|
Frequency of the HFE gene mutations in five Italian populations, file e27ce42d-15ea-2581-e053-d805fe0acbaa
|
1
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| Totale |
8.005 |