CINECA IRIS Institutional Research Information System

CASCELLA, RAFFAELLA
 Distribuzione geografica
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Continente #
NA - Nord America 104
Continente sconosciuto - Info sul continente non disponibili 81
EU - Europa 47
AS - Asia 20
Totale 252
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Nazione #
US - Stati Uniti d'America 94
IT - Italia 45
BD - Bangladesh 10
SG - Singapore 5
JM - Giamaica 4
CN - Cina 3
CA - Canada 2
HK - Hong Kong 2
BG - Bulgaria 1
CR - Costa Rica 1
FR - Francia 1
LC - Santa Lucia 1
SV - El Salvador 1
VI - Stati Uniti Isole Vergini 1
Totale 171
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Città #
Santa Clara 14
Milan 11
Genoa 4
Singapore 4
Beijing 3
Catania 3
Las Vegas 3
Rome 3
Ashburn 2
Brooklyn 2
Campi Bisenzio 2
Cincinnati 2
Fort Worth 2
Hong Kong 2
Los Angeles 2
New York 2
Portmore 2
Altamura 1
Arlington 1
Athens 1
Auburn 1
Bari 1
Bayonne 1
Baytown 1
Bethlehem 1
Blagoevgrad 1
Boca Raton 1
Bologna 1
Bowling Green 1
Brescia 1
Broken Bow 1
Buffalo 1
Burke 1
Calgary 1
Castelfranco Emilia 1
Castries 1
Cervino 1
Charleston 1
Charlotte 1
Chattanooga 1
Chicago 1
Christiansted 1
Columbus 1
Delhi 1
Denver 1
Detroit 1
Eden 1
Elmwood Park 1
Fisher 1
Hazleton 1
Herndon 1
Hialeah 1
Indianapolis 1
Indpls 1
Jackson 1
Jacksonville 1
Kingston 1
Lafayette 1
Lewes 1
Lucca 1
Minneapolis 1
Montego Bay 1
Montesilvano 1
Nederland 1
Newark 1
North Hollywood 1
Olathe 1
Osimo 1
Padua 1
Pahokee 1
Palermo 1
Paris 1
Philadelphia 1
Portsmouth 1
Prattville 1
Rubiera 1
San Antonio 1
San Diego 1
San José 1
San Salvador 1
Santarcangelo di Romagna 1
Tampa 1
Taranto 1
Turin 1
Verona 1
Volla 1
Washington 1
Waxhaw 1
Westminster 1
Wichita 1
Yuma 1
Totale 137
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Nome #
Relationship between Nutrition, Lifestyle, and Neurodegenerative Disease: Lessons from ADH1B, CYP1A2 and MTHFR 27
D4Z4 Methylation Levels Combined with a Machine Learning Pipeline Highlight Single CpG Sites as Discriminating Biomarkers for FSHD Patients 17
Polymorphisms in ARMS2 (LOC387715) and LOXL1 genes in the Japanese with age-related macular degeneration 17
Expanding Genetic and Clinical Spectra of Inherited Retinal Dystrophies: Identification of Three Novel PRPH2 Variants 8
Tracking the Initial Diffusion of SARS-CoV-2 Omicron Variant in Italy by RT-PCR and Comparison with Alpha and Delta Variants Spreading 5
Genetic Determinants Highlight the Existence of Shared Etiopathogenetic Mechanisms Characterizing Age-Related Macular Degeneration and Neurodegenerative Disorders 5
Atopic Eczema: Genetic Analysis of COL6A5, COL8A1, and COL10A1 in Mediterranean Populations 5
Follicular occlusion tetrad in a male patient with pachyonychia congenita: clinical and genetic analysis 4
Integrating D4Z4 methylation analysis into clinical practice: improvement of FSHD molecular diagnosis through distinct thresholds for 4qA/4qA and 4qA/4qB patients 4
A Hybrid Machine Learning and Network Analysis Approach Reveals Two Parkinson's Disease Subtypes from 115 RNA-Seq Post-Mortem Brain Samples 4
Federated Learning: Breaking Down Barriers in Global Genomic Research 4
Overview of the molecular determinants contributing to the expression of Psoriasis and Psoriatic Arthritis phenotypes 4
Case Report: Sars-CoV-2 Infection in a Vaccinated Individual: Evaluation of the Immunological Profile and Virus Transmission Risk 4
Assessing individual risk for AMD with genetic counseling, family history, and genetic testing. 4
A Splicing Variant in RDH8 Is Associated with Autosomal Recessive Stargardt Macular Dystrophy 4
RHO Variants and Autosomal Dominant Retinitis Pigmentosa: Insights from the Italian Genetic Landscape 3
Analysis of Genetic Variants Associated with COVID-19 Outcome Highlights Different Distributions among Populations 3
Bilateral Retinal Angiomatous Proliferation in a Variant of Retinitis Pigmentosa 3
NIPAT as Non-Invasive Prenatal Paternity Testing Using a Panel of 861 SNVs 3
Age and Sex Modulate SARS-CoV-2 Viral Load Kinetics: A Longitudinal Analysis of 1735 Subjects 3
Application of Precision Medicine in Neurodegenerative Diseases 3
Shared (epi)genomic background connecting neurodegenerative diseases and type 2 diabetes 3
Deregulation of ncRNA in Neurodegenerative Disease: Focus on circRNA, lncRNA and miRNA in Amyotrophic Lateral Sclerosis 3
The Genetics and the Genomics of Primary Congenital Glaucoma. 3
Atopic Eczema: Genetic Analysis of COL6A5, COL8A1, and COL10A1 in Mediterranean Populations 3
Deciphering the Complexity of FSHD: A Multimodal Approach as a Model for Rare Disorders 3
The variability of SMCHD1 gene in FSHD patients: evidence of new mutations 3
Age-related macular degeneration: insights into inflammatory genes 3
12. Biomolecular index of therapeutic efficacy in psoriasis treated with anti-TNF-α agents. 3
Characterization of D4Z4 alleles and assessment of de novo cases in Facioscapulohumeral dystrophy (FSHD) in a cohort of Italian families 3
Facioscapulohumeral muscular dystrophy (FSHD) molecular diagnosis: from traditional technology to the NGS era 3
AI-Powered Neurogenetics: Supporting Patient's Evaluation with Chatbot 3
Uncovering genetic and non-genetic biomarkers specific for exudative age-related macular degeneration: significant association of twelve variants 3
Characterization of a natural variant of human NDP52 and its functional consequences on mitophagy. 3
Haplotypes in IL-8 Gene Are Associated to Age-Related Macular Degeneration: A Case-Control Study 3
KIF3A and IL-4 are disease-specific biomarkers for psoriatic arthritis susceptibility. 3
A multiplex molecular assay for the detection of uniparental disomy for human chromosome 7 2
Doyne honeycomb retinal dystrophy - functional improvement following subthreshold nanopulse laser treatment: a case report 2
Direct PCR: a new pharmacogenetic approach for the inexpensive testing of HLA-B*57:01 2
Absence of filaggrin mutation in a patient affected by pachyonychia congenita and mild atopic dermatitis 2
The Interplay between miRNA-Related Variants and Age-Related Macular Degeneration: EVIDENCE of Association of MIR146A and MIR27A 2
Comparative analysis of antigen and molecular tests for the detection of Sars-CoV-2 and related variants: A study on 4266 samples 2
Towards the application of precision medicine in Age-Related Macular Degeneration. 2
Comparative analysis between saliva and buccal swabs as source of DNA: lesson from HLA-B*57:01 testing 2
WARE: Wet AMD Risk-Evaluation Tool as a Clinical Decision-Support System Integrating Genetic and Non-Genetic Factors 2
Two molecular assays for the rapid and inexpensive detection of GJB2 and GJB6 mutations. 2
RNAseq-Based Prioritization Revealed COL6A5, COL8A1, COL10A1 and MIR146A as Common and Differential Susceptibility Biomarkers for Psoriasis and Psoriatic Arthritis: Confirmation from Genotyping Analysis of 1417 Italian Subjects 2
Analysis of ACE2 Genetic Variability among Populations Highlights a Possible Link with COVID-19-Related Neurological Complications 2
The Pharmacogenomic HLA Biomarker Associated to Adverse Abacavir Reactions: Comparative Analysis of Different Genotyping Methods 2
Investigation of Genetic Variations of IL6 and IL6R as Potential Prognostic and Pharmacogenetics Biomarkers: Implications for COVID-19 and Neuroinflammatory Disorders 2
May some HCV genotype 1 patients still benefit from dual therapy? The role of very early HCV kinetics. 2
NGS Analysis for Molecular Diagnosis of Retinitis Pigmentosa (RP): Detection of a Novel Variant in PRPH2 Gene 2
Association of KIF3A, but not OVOL1 and ACTL9, with atopic eczema in Italian patients 2
Expression and potential role of cellular retinol binding protein I in psoriasis 2
Three-hour analysis of non-invasive foetal sex determination: application of Plexor chemistry 2
Laryngopharyngeal Reflux Diagnosis in Obstructive Sleep Apnea Patients Using the Pepsin Salivary Test 2
Pharmacogenomics of multifactorial diseases: a focus on psoriatic arthritis. 2
Genetic Counseling and NGS Screening for Recessive LGMD2A Families 2
Longitudinal Structure-Function Evaluation in a Patient with CDHR1-Associated Retinal Dystrophy: Progressive Visual Function Loss with Retinal Remodeling 2
Long-Term Structural and Functional Assessment of Doyne Honeycomb Retinal Dystrophy following Nanosecond 2RT Laser Treatment: A Case Series 2
Laryngopharyngeal reflux disease in adult patients: tears and pepsin 2
Sample Tracking Tool: A Comprehensive Approach Based on OpenArray Technology and R Scripting for Genomic Sample Monitoring 2
Two molecular assays for the rapid and inexpensive detection of GJB2 and GJB6 mutations. 2
FLG (filaggrin) null mutations and sunlight exposure: Evidence of a correlation. 2
Identification of Genetic Networks Reveals Complex Associations and Risk Trajectory Linking Mild Cognitive Impairment to Alzheimer's DiseaseStrafella C, Caputo V, Termine A, Fabrizio C, Calvino G, Megalizzi D, Ruffo P, Toppi E, Banaj N, Bassi A, Bossù P, Caltagirone C, Spalletta G, Giardina E, Cascella R 1
Defective proteasome biogenesis into skin fibroblasts isolated from Rett syndrome subjects with MeCP2 non-sense mutations 1
Genetic counselling improves the molecular characterisation of dementing disorders 1
Precision Medicine into Clinical Practice: A Web-Based Tool Enables Real-Time Pharmacogenetic Assessment of Tailored Treatments in Psychiatric Disorders 1
Whole exome sequencing highlights rare variants in CTCF, DNMT1, DNMT3A, EZH2 and SUV39H1 as associated with FSHD 1
Epigenomic signatures in age-related macular degeneration: Focus on their role as disease modifiers and therapeutic targets 1
Limb-Girdle Muscular Dystrophies (LGMDs): The Clinical Application of NGS Analysis, a Family Case Report 1
Genetic Variants Allegedly Linked to Antisocial Behaviour Are Equally Distributed Across Different Populations 1
Full Sequencing of the FLG Gene in Italian Patients with Atopic Eczema: Evidence of New Mutations, but Lack of an Association 1
Innovations in Medicine: Exploring ChatGPT's Impact on Rare Disorder Management 1
Digenic Inheritance of Shortened Repeat Units of the D4Z4 Region and a Loss-of-Function Variant in SMCHD1 in a Family With FSHD 1
Immune System and Neuroinflammation in Idiopathic Parkinson's Disease: Association Analysis of Genetic Variants and miRNAs Interactions 1
Update on the Molecular Aspects and Methods Underlying the Complex Architecture of FSHD 1
Identification of Duchenne/Becker muscular dystrophy mosaic carriers through a combined DNA/RNA analysis 1
Multi-layer picture of neurodegenerative diseases: Lessons from the use of big data through artificial intelligence 1
Epigenetic profiling of the D4Z4 locus: Optimization of the protocol for studying DNA methylation at single CpG site level 1
Pharmacogenomics: An Update on Biologics and Small-Molecule Drugs in the Treatment of Psoriasis 1
Totale 252
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Categoria #
all - tutte 4.287
article - articoli 0
book - libri 0
conference - conferenze 0
curatela - curatele 0
other - altro 0
patent - brevetti 0
selected - selezionate 0
volume - volumi 0
Totale 4.287
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2026/2027252 83 126 43 0 0 0 0 0 0 0 0 0
Totale 252