| Nome |
# |
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Review of nutrient actions on age-related macular degeneration, file e291c0d6-88d3-cddb-e053-3a05fe0aa144
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1.287
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Il doping genetico: ipotesi surreale o inquietante realtà?, file e291c0d4-54e7-cddb-e053-3a05fe0aa144
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841
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Age-related macular degeneration: insights into inflammatory genes, file e291c0d4-c2d6-cddb-e053-3a05fe0aa144
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559
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A novel syndrome of mandibular hypoplasia, deafness, and progeroid features associated with lipodystrophy, undescended testes, and male hypogonadism, file e291c0d3-bb35-cddb-e053-3a05fe0aa144
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541
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Design of a novel LOX-1 receptor antagonist mimicking the natural substrate, file e291c0d4-7dd8-cddb-e053-3a05fe0aa144
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473
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HLA allele frequencies and susceptibility to COVID-19 in a group of 99 Italian patients, file e291c0d8-e286-cddb-e053-3a05fe0aa144
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352
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Cholesterol-lowering drugs inhibit LOX-1 receptor function by membrane raft disruption, file e291c0d4-8252-cddb-e053-3a05fe0aa144
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345
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Characterization of ANKRD11 mutations in humans and mice related to KBG syndrome, file e291c0d9-6145-cddb-e053-3a05fe0aa144
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315
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Increased release and activity of matrix metalloproteinase-9 in patients with mandibuloacral dysplasia type A, a rare premature ageing syndrome, file e291c0d4-4feb-cddb-e053-3a05fe0aa144
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272
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Aberrant splicing and expression of the non muscle myosin heavy-chain gene MYH14 in DM1 muscle tissues, file e291c0d5-93d3-cddb-e053-3a05fe0aa144
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253
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Epigenetic Modification in Coronary Atherosclerosis, file e291c0d9-3c0f-cddb-e053-3a05fe0aa144
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247
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SOS1 over-expression in genital skin fibroblasts from hirsute women: a putative role of the SOS1/RAS pathway in the pathogenesis of hirsutism., file e291c0d5-85c2-cddb-e053-3a05fe0aa144
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242
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Cerebral cavernous malformations associated to meningioma: High penetrance in a novel family mutated in the PDCD10 gene, file e291c0d5-f6db-cddb-e053-3a05fe0aa144
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212
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A perturbed MicroRNA expression pattern characterizes embryonic neural stem cells derived from a severe mouse model of spinal muscular atrophy (SMA), file e291c0d4-f7df-cddb-e053-3a05fe0aa144
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203
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Co-segregation of DM2 with a recessive CLCN1 mutation in juvenile onset of myotonic dystrophy type 2, file e291c0d5-9420-cddb-e053-3a05fe0aa144
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192
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Identification and characterization of 5' CCG interruptions in complex DMPK expanded alleles, file e291c0d6-2b4c-cddb-e053-3a05fe0aa144
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189
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Lox-1 and its splice variants: a new challenge for atherosclerosis and cancer-targeted therapies, file e291c0d6-445d-cddb-e053-3a05fe0aa144
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182
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LOX-1 Inhibition in ApoE KO Mice Using a Schizophyllan-based Antisense Oligonucleotide Therapy., file e291c0d4-7b3c-cddb-e053-3a05fe0aa144
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180
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MBNL142 and MBNL143 gene isoforms, overexpressed in DM1-patient muscle, encode for nuclear proteins interacting with Src family kinases, file e291c0d5-88e5-cddb-e053-3a05fe0aa144
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175
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Three-hour analysis of non-invasive foetal sex determination: application of Plexor chemistry, file e291c0d5-f3c6-cddb-e053-3a05fe0aa144
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171
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Overexpression of CUGBP1 in skeletal muscle from adult classic myotonic dystrophy type 1 but not from myotonic dystrophy type 2, file e291c0d5-8b69-cddb-e053-3a05fe0aa144
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169
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Inborn errors of type I IFN immunity in patients with life-threatening COVID-19, file e291c0d9-1777-cddb-e053-3a05fe0aa144
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166
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Expression profiles of the SARS-CoV-2 host invasion genes in nasopharyngeal and oropharyngeal swabs of COVID-19 patients, file e291c0d9-1e60-cddb-e053-3a05fe0aa144
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163
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Mutational Analysis of Mitochondrial DNA in Brugada Syndrome, file e291c0d9-430e-cddb-e053-3a05fe0aa144
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157
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Massive obesity and hyperphagia in posterior bilateral periventricular heterotopias: Case report, file e291c0d5-de3b-cddb-e053-3a05fe0aa144
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154
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Population differences in allele frequencies at the OLR1 locus may suggest geographic disparities in cardiovascular risk events., file e291c0d3-8f12-cddb-e053-3a05fe0aa144
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137
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Coexistence of Two Novel Mutations in CDKN2A and
PMS1 Genes in a Single Patient Identifies a New and
Severe Cancer Predisposition Syndrome, file e291c0d7-42f7-cddb-e053-3a05fe0aa144
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137
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COVID-19 and genetic variants of protein involved in the SARS-CoV-2 entry into the host cells, file e291c0d9-4939-cddb-e053-3a05fe0aa144
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126
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Profiling gene expression in peripheral blood mononuclear cells (PBMC) reflects the changes related to androgen and insulin metabolism pathway in recreational and competitive athletes, file e291c0d4-ad52-cddb-e053-3a05fe0aa144
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117
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Analysis of ACE2 Genetic Variability among Populations Highlights a Possible Link with COVID-19-Related Neurological Complications, file e291c0d8-d04b-cddb-e053-3a05fe0aa144
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109
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Identification of aberrantly-expressed long non-coding RNAs in osteoblastic cells from osteoporotic patients, file e291c0d9-0e3a-cddb-e053-3a05fe0aa144
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103
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Expansion size and presence of CCG/CTC/CGG sequence interruptions in the expanded CTG array are independently associated to hypermethylation at the DMPK locus in myotonic dystrophy type 1 (DM1), file e291c0d8-3f2e-cddb-e053-3a05fe0aa144
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100
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European lipodystrophy registry: background and structure, file e291c0d7-b677-cddb-e053-3a05fe0aa144
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99
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SMA human iPSC-derived motor neurons show perturbed differentiation and reduced miR-335-5P expression, file e291c0d8-2720-cddb-e053-3a05fe0aa144
|
93
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Improving diagnosis for rare diseases: the experience of the Italian undiagnosed Rare diseases network, file e291c0d9-30a6-cddb-e053-3a05fe0aa144
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88
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WWP1 germline variants are associated with normocephalic autism spectrum disorder, file e291c0d8-aa66-cddb-e053-3a05fe0aa144
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87
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Overview of the molecular determinants contributing to the expression of Psoriasis and Psoriatic Arthritis phenotypes, file e291c0d9-0535-cddb-e053-3a05fe0aa144
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79
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Precision Medicine in Non-Communicable Diseases, file e291c0d9-04c5-cddb-e053-3a05fe0aa144
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77
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Targeting LOX-1 inhibits colorectal cancer metastasis in an animal model, file e291c0d7-d21a-cddb-e053-3a05fe0aa144
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73
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TNFAIP3 gene polymorphisms in three common autoimmune diseases: Systemic lupus erythematosus, rheumatoid arthritis, and primary sjogren syndrome - association with disease susceptibility and clinical phenotypes in Italian patients, file e291c0d8-5e1a-cddb-e053-3a05fe0aa144
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62
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Complete loss of the DNAJB6 G/F domain and novel missense mutations cause distal-onset DNAJB6 myopathy, file e291c0d8-be75-cddb-e053-3a05fe0aa144
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61
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Atopic Eczema: Genetic Analysis of COL6A5, COL8A1, and COL10A1 in Mediterranean Populations., file e291c0d8-e5dc-cddb-e053-3a05fe0aa144
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61
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Generation and Neuronal Differentiation of hiPSCs From Patients With Myotonic Dystrophy Type 2, file e291c0d8-9e4d-cddb-e053-3a05fe0aa144
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60
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An enormous Italian pedigree of Marfan syndrome with a novel mutation in the FBN1 gene, file e291c0d9-4a19-cddb-e053-3a05fe0aa144
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60
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Cell-free DNA analysis in healthy individuals by next-generation sequencing: a proof of concept and technical validation study, file e291c0d9-2b15-cddb-e053-3a05fe0aa144
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59
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Expression analysis of miRNA hsa-let7b-5p in naso-oropharyngeal swabs of COVID-19 patients supports its role in regulating ACE2 and DPP4 receptors, file e54114fd-afc2-4d68-8a94-441b008d07e5
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56
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A preliminary analysis of volatile metabolites of human induced pluripotent stem cells along the in vitro differentiation, file e291c0d8-1119-cddb-e053-3a05fe0aa144
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54
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Keratoderma-deafness-mucocutaneous syndrome associated with phe142leu in the GJB2 gene, file e291c0d9-6ec2-cddb-e053-3a05fe0aa144
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54
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MiR-423 is differentially expressed in patients with stable and unstable coronary artery disease: A pilot study, file e291c0d9-5924-cddb-e053-3a05fe0aa144
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53
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The lectin-like oxidized LDL receptor-1: A new potential molecular target in colorectal cancer, file e291c0d7-c1ec-cddb-e053-3a05fe0aa144
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52
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Application of CRISPR/Cas9 to human-induced pluripotent stem cells: from gene editing to drug discovery, file e291c0d9-4f9c-cddb-e053-3a05fe0aa144
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51
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The Interplay between miRNA-Related Variants and Age-Related Macular Degeneration: EVIDENCE of Association of MIR146A and MIR27A., file e291c0d9-57be-cddb-e053-3a05fe0aa144
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51
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Vitamin D Receptor in Muscle Atrophy of Elderly Patients: A Key Element of Osteoporosis-Sarcopenia Connection, file e291c0d8-7585-cddb-e053-3a05fe0aa144
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50
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Application of Next Generation Sequencing for personalized medicine for sudden cardiac death, file e291c0d9-6969-cddb-e053-3a05fe0aa144
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49
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COVID-19 update: the first 6 months of the pandemic, file e291c0d9-3a40-cddb-e053-3a05fe0aa144
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48
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Expression profile of HERVs and inflammatory mediators detected in nasal mucosa as a predictive biomarker of COVID-19 severity, file 7065b6bd-17da-4ddb-a871-dfedbb29899c
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45
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A global effort to dissect the human genetic basis of resistance to SARS-CoV-2 infection, file e291c0d9-d26f-cddb-e053-3a05fe0aa144
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45
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Tumor Necrosis Factor Receptor SF10A (TNFRSF10A) SNPs Correlate With Corticosteroid Response in Duchenne Muscular Dystrophy, file e291c0d8-d86f-cddb-e053-3a05fe0aa144
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43
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SARS-CoV-2-related MIS-C: a key to the viral and genetic causes of Kawasaki disease?, file e291c0d9-e45d-cddb-e053-3a05fe0aa144
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42
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STAT4, TRAF3IP2, IL10, and HCP5 Polymorphisms in Sjögren's Syndrome: Association with Disease Susceptibility and Clinical Aspects, file e291c0d8-c852-cddb-e053-3a05fe0aa144
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39
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Pro-oncogenic action of LOX-1 and its splice variant LOX-1Δ4 in breast cancer phenotypes, file e291c0d9-2dfe-cddb-e053-3a05fe0aa144
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39
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Genome-wide association study of nevirapine hypersensitivity in a sub-Saharan African HIV-infected population, file e291c0d6-b7d4-cddb-e053-3a05fe0aa144
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37
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Two Different Therapeutic Approaches for SARS-CoV-2 in hiPSCs-Derived Lung Organoids, file 3566af21-6248-4ce1-bb34-5ef3ed95f083
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29
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Synthetic Methodologies and Therapeutic Potential of Indole-3-Carbinol (I3C) and Its Derivatives, file 54a86cdf-87e7-47c7-b390-b32ec36dba9f
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26
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Characterization of FMR1 Repeat Expansion and Intragenic Variants by Indirect Sequence Capture, file fb181f1e-97d4-405a-b8dc-ef4aa34a0890
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20
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Cutaneous and metabolic defects associated with nuclear abnormalities in a transgenic mouse model expressing R527H lamin A mutation causing mandibuloacral dysplasia type A (MADA) syndrome, file e291c0d9-134a-cddb-e053-3a05fe0aa144
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16
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A 14-Year Italian Experience in DM2 Genetic Testing: Frequency and Distribution of Normal and Premutated CNBP Alleles, file f3887b88-7002-4130-93c7-cc12ba00266a
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16
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No evidence for allelic association between Covid-19 and ACE2 genetic variants by direct exome sequencing in 99 SARS-CoV-2 positive patients, file e291c0d9-db37-cddb-e053-3a05fe0aa144
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15
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A European spectrum of pharmacogenomic biomarkers: Implications for clinical pharmacogenomics, file e291c0d6-12de-cddb-e053-3a05fe0aa144
|
10
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|
HLA allele frequencies and susceptibility to COVID-19 in a group of 99 Italian patients, file e291c0d9-320a-cddb-e053-3a05fe0aa144
|
10
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|
Polymorphisms in STAT4, PTPN2, PSORS1C1 and TRAF3IP2 genes are associated with the response to TNF inhibitors in patients with rheumatoid arthritis, file e291c0d6-b711-cddb-e053-3a05fe0aa144
|
7
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|
Gene Expression and Epigenetics:
the Link Between Biology, Physiology and Behavior, file b83fa065-1fe3-4fe3-b061-1aae4cb64ba3
|
6
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|
Identification, molecular characterization and segregation analysis of a variant DMPK pre-mutation allele in a three-generation Italian family, file e291c0d9-06fb-cddb-e053-3a05fe0aa144
|
6
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Downregulation of Circulating Hsa-miR-200c-3p Correlates with Dyslipidemia in Patients with Stable Coronary Artery Disease, file b84a76a6-3806-42a8-a2da-568dd81999cd
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4
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Ku70, Ku80, sClusterin: a “cluster” of predicting factors for neoadjuvant chemoradiotherapy treatment response in patients affected by locally advanced rectal cancer, file e291c0d6-122d-cddb-e053-3a05fe0aa144
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4
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Impact of glutathione transferases genes polymorphisms in nevirapine adverse reactions: a possible role for GSTM1 in SJS/TEN susceptibility, file e291c0d6-eb80-cddb-e053-3a05fe0aa144
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4
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Randomized comparison of awake nonresectional versus nonawake resectional lung volume reduction surgery., file e291c0d5-71c3-cddb-e053-3a05fe0aa144
|
3
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|
Assessing individual risk for AMD with genetic counseling, family history, and genetic testing, file e291c0d6-e4a5-cddb-e053-3a05fe0aa144
|
2
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|
A common polymorphism in MIR155 gene promoter region is associated with a lower risk to develop type 2 diabetes, file e291c0d7-4f97-cddb-e053-3a05fe0aa144
|
2
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Modelling the pathogenesis of Myotonic Dystrophy type 1 cardiac phenotype through human iPSC-derived cardiomyocytes, file e291c0d7-692a-cddb-e053-3a05fe0aa144
|
2
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Genetic variants of the human host influencing the coronavirus-associated phenotypes (SARS, MERS and COVID-19): rapid systematic review and field synopsis, file e291c0d8-a82b-cddb-e053-3a05fe0aa144
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2
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Six years as university rector changed how I do genetics, file 49050e99-258e-49d1-9862-5d658ea78eec
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1
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Early subclinical cochlear dysfunction in myotonic dystrophy type 1., file e291c0d5-739d-cddb-e053-3a05fe0aa144
|
1
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TRAF3IP2 gene and systemic lupus erythematosus: association with disease susceptibility and pericarditis development, file e291c0d5-7573-cddb-e053-3a05fe0aa144
|
1
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A pilot study on the transcriptional response of androgen- and insulin-related genes in peripheral blood mononuclear cells induced by testosterone administration in hypogonadal men, file e291c0d5-8ddd-cddb-e053-3a05fe0aa144
|
1
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|
Randomized comparison of awake nonresectional versus nonawake resectional lung volume reduction surgery., file e291c0d5-9501-cddb-e053-3a05fe0aa144
|
1
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A Pharmacogenetics Study in Mozambican Patients Treated with Nevirapine: Full Resequencing of TRAF3IP2 Gene Shows a Novel Association with SJS/TEN Susceptibility, file e291c0d5-cb79-cddb-e053-3a05fe0aa144
|
1
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Polymorphisms in MIR122, MIR196A2, and MIR124A genes are associated with clinical phenotypes in inflammatory bowel diseases, file e291c0d6-13ae-cddb-e053-3a05fe0aa144
|
1
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|
Prenatal diagnosis of genomic disorders and chromosome abnormalities using array-based comparative genomic hybridization, file e291c0d6-2161-cddb-e053-3a05fe0aa144
|
1
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Genomics of cardiac remodeling in angiotensin II-treated wild-type and LOX-1-deficient mice, file e291c0d6-29f2-cddb-e053-3a05fe0aa144
|
1
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Now you can! Reality & Future Applications of array CGH in prenatal diagnosis, file e291c0d6-2cea-cddb-e053-3a05fe0aa144
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1
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Association between a MIR499A polymorphism and diabetic neuropathy in type 2 diabetes, file e291c0d6-c804-cddb-e053-3a05fe0aa144
|
1
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Biomolecular index of therapeutic efficacy in psoriasis treated by anti-TNF alpha agents., file e291c0d7-316c-cddb-e053-3a05fe0aa144
|
1
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A multivariate genetic analysis confirms rs5010528 in the human leucocyte antigen-C locus as a significant contributor to Stevens-Johnson syndrome/toxic epidermal necrolysis susceptibility in a Mozambique HIV population treated with nevirapine, file e291c0d7-9e34-cddb-e053-3a05fe0aa144
|
1
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miRNAs in drug response variability: potential utility as biomarkers for personalized medicine, file e291c0d7-a5c6-cddb-e053-3a05fe0aa144
|
1
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Characterization of gene expression induced by RTN-1C in human neuroblastoma cells and in mouse brain, file e291c0d8-0c69-cddb-e053-3a05fe0aa144
|
1
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Mutation analysis of the FBN1 gene in a cohort of patients with Marfan Syndrome: A 10-year single center experience, file e291c0d8-8821-cddb-e053-3a05fe0aa144
|
1
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Expression study of candidate miRNAs and evaluation of their potential use as biomarkers of diabetic neuropathy, file e291c0d8-de01-cddb-e053-3a05fe0aa144
|
1
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The differential response to anti IL-6 treatment in COVID-19: the genetic counterpart, file e291c0d8-ecd8-cddb-e053-3a05fe0aa144
|
1
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Frataxin deficiency in Friedreich’s ataxia is associated with reduced levels of HAX-1, a regulator of cardiomyocyte death and survival, file e291c0d9-0e3c-cddb-e053-3a05fe0aa144
|
1
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| Totale |
10.839 |