IRIS
CASCELLA, RAFFAELLA
 Distribuzione geografica
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Continente #
NA - Nord America 6.076
EU - Europa 676
AS - Asia 573
SA - Sud America 50
AF - Africa 9
Continente sconosciuto - Info sul continente non disponibili 7
OC - Oceania 1
Totale 7.392
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Nazione #
US - Stati Uniti d'America 6.070
SG - Singapore 317
IT - Italia 157
IE - Irlanda 136
HK - Hong Kong 94
CN - Cina 83
DE - Germania 71
RU - Federazione Russa 64
SE - Svezia 46
BR - Brasile 44
UA - Ucraina 40
GB - Regno Unito 37
FR - Francia 32
PL - Polonia 24
KG - Kirghizistan 21
FI - Finlandia 18
KR - Corea 16
UZ - Uzbekistan 11
AT - Austria 10
CZ - Repubblica Ceca 10
NL - Olanda 9
BE - Belgio 8
ID - Indonesia 7
CA - Canada 5
EG - Egitto 5
EU - Europa 5
IN - India 5
BD - Bangladesh 4
RO - Romania 3
TR - Turchia 3
VN - Vietnam 3
A2 - ???statistics.table.value.countryCode.A2??? 2
AZ - Azerbaigian 2
ES - Italia 2
LT - Lituania 2
MA - Marocco 2
PY - Paraguay 2
AL - Albania 1
AM - Armenia 1
AR - Argentina 1
AU - Australia 1
BG - Bulgaria 1
BO - Bolivia 1
DK - Danimarca 1
EC - Ecuador 1
GR - Grecia 1
HR - Croazia 1
IL - Israele 1
IR - Iran 1
JO - Giordania 1
JP - Giappone 1
LV - Lettonia 1
MX - Messico 1
NO - Norvegia 1
PS - Palestinian Territory 1
SA - Arabia Saudita 1
TN - Tunisia 1
VE - Venezuela 1
ZA - Sudafrica 1
Totale 7.392
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Città #
Wilmington 1.918
Houston 1.471
Woodbridge 856
Fairfield 301
Chandler 269
Singapore 214
Ashburn 157
Seattle 131
Ann Arbor 128
Cambridge 111
Dublin 102
Hong Kong 94
Medford 87
Rome 59
New York 57
Dearborn 42
Lawrence 38
Beijing 32
Santa Clara 29
Council Bluffs 26
Kraków 24
Jacksonville 22
San Diego 21
The Dalles 21
Munich 15
Moscow 14
Palo Alto 13
Boardman 12
Seoul 12
Nuremberg 11
Helsinki 10
Brno 9
Menlo Park 9
Norwalk 9
Los Angeles 8
Nanjing 8
Brussels 7
Jakarta 7
Milan 7
Latiano 6
Cairo 5
Dhaka 4
Guangzhou 4
Hefei 4
Nagold 4
Redwood City 4
Zhengzhou 4
Belo Horizonte 3
Detroit 3
Dong Ket 3
Kilburn 3
London 3
Toronto 3
Verona 3
Vienna 3
Ascoli Piceno 2
Baku 2
Brasília 2
Briosco 2
Chengdu 2
Chiari 2
Cologne 2
Esslingen am Neckar 2
Falls Church 2
Ferrara 2
Islington 2
Kunming 2
La Veta 2
Leawood 2
Lyon 2
Miami 2
Porto Alegre 2
Prescot 2
Pune 2
Quzhou 2
San Francisco 2
Shenzhen 2
São Paulo 2
Turin 2
Velletri 2
Acton 1
Agadir 1
Amman 1
Amsterdam 1
Antwerp 1
Anápolis 1
Aracaju 1
Araçatuba 1
Asunción 1
Atlanta 1
Augusta 1
Baotou 1
Bari 1
Bauru 1
Belo Jardim 1
Bengaluru 1
Berlin 1
Bethesda 1
Birigui 1
Bom Jesus da Lapa 1
Totale 6.490
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Nome #
Direct PCR: a new pharmacogenetic approach for the inexpensive testing of HLA-B*57:01 426
Pharmacogenomics of multifactorial diseases: A focus on psoriatic arthritis 409
FLG (filaggrin) null mutations and sunlight exposure: Evidence of a correlation 407
Comparative analysis between saliva and buccal swabs as source of DNA: Lesson from HLA-B∗57:01 testing 403
Three-hour analysis of non-invasive foetal sex determination: application of Plexor chemistry 399
Assessing individual risk for AMD with genetic counseling, family history, and genetic testing 361
Expression and potential role of cellular retinol binding protein I in psoriasis 341
Application of precision medicine in neurodegenerative diseases 312
Digenic inheritance of shortened repeat units of the D4Z4 region and a loss-of-function variant in SMCHD1 in a Family with FSHD 298
KIF3A and IL-4 are disease-specific biomarkers for psoriatic arthritis susceptibility 294
Biomolecular index of therapeutic efficacy in psoriasis treated by anti-TNF alpha agents. 285
Identification of Duchenne/Becker muscular dystrophy mosaic carriers through a combined DNA/RNA analysis 267
Atopic Eczema: Genetic Analysis of COL6A5, COL8A1, and COL10A1 in Mediterranean Populations. 255
Facioscapulohumeral muscular dystrophy (FSHD) molecular diagnosis: from traditional technology to the NGS era. 240
The Interplay between miRNA-Related Variants and Age-Related Macular Degeneration: EVIDENCE of Association of MIR146A and MIR27A. 238
Uncovering genetic and non-genetic biomarkers specific for exudative age-related macular degeneration: Significant association of twelve variants 222
Doyne honeycomb retinal dystrophy - functional improvement following subthreshold nanopulse laser treatment: a case report. 220
Limb-Girdle Muscular Dystrophies (LGMDs): The Clinical Application of NGS Analysis, a Family Case Report. 212
Defective proteasome biogenesis into skin fibroblasts isolated from Rett syndrome subjects with MeCP2 non-sense mutations 197
The Variability of SMCHD1 Gene in FSHD Patients: Evidence of New Mutations 194
Follicular occlusion tetrad in a male patient with pachyonychia congenita: clinical and genetic analysis 189
Bilateral Retinal Angiomatous Proliferation in a Variant of Retinitis Pigmentosa 174
Ngs analysis for molecular diagnosis of Retinitis Pigmentosa (RP): Detection of a novel variant in PRPH2 gene 174
Analysis of ACE2 Genetic Variability among Populations Highlights a Possible Link with COVID-19-Related Neurological Complications 106
A Novel Smad7 Genetic Variant Mapping on the Genomic Region Targeted by Mongersen Is Associated with Crohn's Disease 104
Immune System and Neuroinflammation in Idiopathic Parkinson's Disease: Association Analysis of Genetic Variants and miRNAs Interactions 76
Overview of the molecular determinants contributing to the expression of Psoriasis and Psoriatic Arthritis phenotypes 72
Characterization of a natural variant of human NDP52 and its functional consequences on mitophagy 70
Gender and complex diseases: Insights into sex-specific epigenetic|Genere e malattie complesse: Meccanismi epigenetici sesso-specifici 63
Genetic counseling and NGS screening for recessive LGMD2A families 63
Comparative analysis of antigen and molecular tests for the detection of Sars-CoV-2 and related variants: a study on 4266 samples 59
Case report: Sars-CoV-2 infection in a vaccinated individual: evaluation of the immunological profile and virus transmission risk 55
Genetic determinants highlight the existence of shared etiopathogenetic mechanisms characterizing age-related macular degeneration and neurodegenerative disorders 47
Epigenomic signatures in age-related macular degeneration: Focus on their role as disease modifiers and therapeutic targets 46
Multi-layer picture of neurodegenerative diseases: lessons from the use of big data through artificial intelligence 40
Genetic counselling improves the molecular characterisation of dementing disorders 36
Investigation of genetic variations of IL6 and IL6R as potential prognostic and pharmacogenetics biomarkers: implications for COVID-19 and neuroinflammatory disorders 30
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 30
Shared (epi)genomic background connecting neurodegenerative diseases and type 2 diabetes 28
D4Z4 methylation levels combined with a machine learning pipeline highlight single CpG sites as discriminating biomarkers for FSHD patients 15
Integrating D4Z4 methylation analysis into clinical practice: improvement of FSHD molecular diagnosis through distinct thresholds for 4qA/4qA and 4qA/4qB patients 15
Long-Term Structural and Functional Assessment of Doyne Honeycomb Retinal Dystrophy following Nanosecond 2RT Laser Treatment: A Case Series 14
Integrating D4Z4 methylation analysis into clinical practice: improvement of FSHD molecular diagnosis through distinct thresholds for 4qA/4qA and 4qA/4qB patients 14
Identification of genetic networks reveals complex associations and risk trajectory linking mild cognitive impairment to Alzheimer's disease 13
Deciphering the complexity of FSHD: a multimodal approach as a model for rare disorders 13
A Hybrid Machine Learning and Network Analysis Approach Reveals Two Parkinson?s Disease Subtypes from 115 RNA-Seq Post-Mortem Brain Samples 12
Deregulation of ncRNA in Neurodegenerative Disease: Focus on circRNA, lncRNA and miRNA in Amyotrophic Lateral Sclerosis 12
Innovations in medicine: exploring ChatGPT's impact on rare disorder management 11
Relationship between nutrition, lifestyle, and neurodegenerative disease: lessons from ADH1B, CYP1A2 and MTHFR 11
Age and sex modulate sars-cov-2 viral load kinetics: a longitudinal analysis of 1735 subjects 10
Update on the molecular aspects and methods underlying the complex architecture of FSHD 10
Tracking the initial diffusion of SARS-CoV-2 Omicron variant in Italy by RT-PCR and comparison with Alpha and Delta variants spreading 9
Precision medicine into clinical practice: a web-based tool enables real?time pharmacogenetic assessment of tailored treatments in psychiatric disorders 9
Epigenetic profiling of the D4Z4 locus: optimization of the protocol for studying DNA methylation at single CpG site level 9
Longitudinal Structure Function Evaluation in a Patient with CDHR1-Associated Retinal Dystrophy: Progressive Visual Function Loss with Retinal Remodeling 9
Analysis of genetic variants associated with COVID-19 outcome highlights different distributions among populations 9
Characterization of D4Z4 alleles and assessment of de novo cases in Facioscapulohumeral dystrophy (FSHD) in a cohort of Italian families 8
NIPAT as Non-Invasive Prenatal Paternity Testing Using a Panel of 861 SNVs 7
RHO variants and autosomal dominant retinitis pigmentosa: insights from the italian genetic landscape 7
A Splicing Variant in RDH8 Is Associated with Autosomal Recessive Stargardt Macular Dystrophy 7
Whole exome sequencing highlights rare variants in CTCF, DNMT1, DNMT3A, EZH2 and SUV39H1 as associated with FSHD 7
Pharmacogenomics: an update on biologics and small-molecule drugs in the treatment of psoriasis 6
Investigation of genetic variations of il6 and il6r as potential prognostic and pharmacogenetics biomarkers: Implications for covid19 and neuroin ammatory disorders 6
Totale 7.685
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Categoria #
all - tutte 21.990
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 21.990
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2019/2020503 0 0 0 0 0 0 0 0 0 183 162 158
2020/20211.728 159 187 219 185 187 173 195 222 40 99 41 21
2021/2022536 17 29 78 57 21 55 24 29 34 42 37 113
2022/2023566 47 67 8 84 58 126 45 42 58 1 16 14
2023/2024241 41 3 7 11 21 72 16 7 6 8 1 48
2024/2025917 36 181 80 73 18 81 130 73 217 28 0 0
Totale 7.685