IRIS
PINELLI, MICHELE
 Distribuzione geografica
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Continente #
AS - Asia 2.892
NA - Nord America 2.511
EU - Europa 1.743
SA - Sud America 328
AF - Africa 74
OC - Oceania 5
Continente sconosciuto - Info sul continente non disponibili 2
Totale 7.555
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Nazione #
US - Stati Uniti d'America 2.413
SG - Singapore 1.280
RU - Federazione Russa 839
CN - Cina 536
VN - Vietnam 501
IT - Italia 272
HK - Hong Kong 254
BR - Brasile 251
DE - Germania 162
FR - Francia 95
NL - Olanda 93
IN - India 85
GB - Regno Unito 61
JP - Giappone 55
FI - Finlandia 53
CA - Canada 51
IE - Irlanda 38
BD - Bangladesh 35
PL - Polonia 30
MX - Messico 29
AR - Argentina 28
KR - Corea 24
UA - Ucraina 24
SE - Svezia 22
CI - Costa d'Avorio 21
TH - Thailandia 21
AT - Austria 19
ZA - Sudafrica 19
EC - Ecuador 17
PH - Filippine 16
IQ - Iraq 13
ES - Italia 12
TR - Turchia 9
VE - Venezuela 9
TW - Taiwan 8
ID - Indonesia 7
LT - Lituania 7
CO - Colombia 6
MA - Marocco 6
AZ - Azerbaigian 5
PY - Paraguay 5
SA - Arabia Saudita 5
TN - Tunisia 5
CL - Cile 4
CR - Costa Rica 4
IL - Israele 4
KZ - Kazakistan 4
DZ - Algeria 3
EG - Egitto 3
GR - Grecia 3
IR - Iran 3
JO - Giordania 3
NG - Nigeria 3
PE - Perù 3
PK - Pakistan 3
UY - Uruguay 3
UZ - Uzbekistan 3
AE - Emirati Arabi Uniti 2
AM - Armenia 2
AU - Australia 2
BE - Belgio 2
BG - Bulgaria 2
CH - Svizzera 2
DO - Repubblica Dominicana 2
ET - Etiopia 2
JM - Giamaica 2
KE - Kenya 2
KG - Kirghizistan 2
KH - Cambogia 2
ML - Mali 2
MY - Malesia 2
NI - Nicaragua 2
NP - Nepal 2
NZ - Nuova Zelanda 2
PA - Panama 2
RO - Romania 2
BH - Bahrain 1
BW - Botswana 1
CU - Cuba 1
CV - Capo Verde 1
CW - ???statistics.table.value.countryCode.CW??? 1
CY - Cipro 1
CZ - Repubblica Ceca 1
GD - Grenada 1
GF - Guiana Francese 1
GN - Guinea 1
GP - Guadalupe 1
GY - Guiana 1
HN - Honduras 1
IS - Islanda 1
KW - Kuwait 1
LB - Libano 1
LC - Santa Lucia 1
LV - Lettonia 1
MR - Mauritania 1
OM - Oman 1
PG - Papua Nuova Guinea 1
RE - Reunion 1
SI - Slovenia 1
SK - Slovacchia (Repubblica Slovacca) 1
Totale 7.549
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Città #
Singapore 614
San Jose 425
Hong Kong 244
Ashburn 243
Chandler 229
Moscow 229
Beijing 177
Ho Chi Minh City 161
Santa Clara 141
Hanoi 119
Hefei 94
Amsterdam 79
Dallas 79
Naples 71
Lauterbourg 64
Millbury 50
Tokyo 49
Los Angeles 46
Boston 45
New York 43
Nanjing 36
Munich 32
Princeton 32
The Dalles 32
Des Moines 29
Buffalo 28
Napoli 28
Lawrence 26
Wilmington 26
Redondo Beach 25
Seattle 25
São Paulo 24
Da Nang 23
Orem 23
Pune 23
Warsaw 22
Jacksonville 20
Haiphong 19
Frankfurt am Main 18
Rome 17
Brooklyn 16
Houston 16
Montreal 16
Seoul 16
Chicago 15
Nuremberg 15
Ottawa 15
Chennai 14
Helsinki 14
Mexico City 14
Milan 13
Council Bluffs 12
Dong Ket 12
London 12
Manchester 12
Poplar 12
Atlanta 11
Baghdad 10
Bangkok 10
Falkenstein 9
Hải Dương 9
Johannesburg 9
Turku 9
Brasília 8
Can Tho 8
Nanchang 8
Rio de Janeiro 8
Stockholm 8
Washington 8
Biên Hòa 7
Denver 7
Falls Church 7
Toronto 7
Wuhan 7
Belo Horizonte 6
Boardman 6
Guayaquil 6
Hebei 6
Kochi 6
New Delhi 6
Redwood City 6
Vienna 6
Bari 5
Dublin 5
Jiaxing 5
Kronberg 5
Norwalk 5
Phoenix 5
Quận Ba 5
San Francisco 5
Woodbridge 5
Baku 4
Columbus 4
Juiz de Fora 4
Mumbai 4
San José 4
Thái Nguyên 4
Tianjin 4
Tunis 4
West Jordan 4
Totale 4.213
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Nome #
Identification of candidate children for maturity-onset diabetes of the young type 2 (MODY2) gene testing: a seven-item clinical flowchart (7-iF). 188
Diabete Tipo 1, Tipo 2 e Tipo X 162
A novel approach to simulate gene-environment interactions in complex diseases 157
Adiponectin gene polymorphism and metabolic syndrome 157
Beta2-adrenergic receptor and UCP3 variants modulate the relationship between age and type 2 diabetes mellitus 151
Seven items flowchart (7-iF) for the clinical indication to GCK genetic test 149
The combination of UCP3-55CT and PPARγ2Pro12Ala polymorphisms affects BMI and substrate oxidation in two diabetic populations 149
Il Diabete Mitocondriale: se lo cerchi lo trovi. 148
Improving the Estimation of Celiac Disease Sibling Risk by Non-HLA Genes. 141
Dissecting genetics of spectrum of epilepsies with eyelid myoclonia by exome sequencing 140
Identifying Fabry patients in dialysis population: prevalence of GLA mutations by renal clinic screening, 1995–2019 140
Identification of C12orf4 as a gene for autosomal recessive intellectual disability 138
Absence of association between Pro12Ala polymorphism of the PPARy2 gene and diabetes 137
A small 7q11.23 microduplication involving GTF2I in a family with intellectual disability 137
Recombinant human erythropoietin increasesfrataxin protein expression without increasing mRNA expression 135
Pro12Ala polymorphism of the PPARgamma2 locus modulates the relationship between energy intake and body weight in type 2 diabetic patients 134
Uncoupling protein 2 G(-866)A polymorphism: a new gene polymorphism associated with C-reactive protein in type 2 diabetic patients. 134
PPAR-gamma Agonist Azelaoyl PAF Increases Frataxin Protein and mRNA Expression. New Implications for the Friedreich's Ataxia Therapy 133
Simulating gene-gene and gene-environment interactions in complex diseases: Gene-Environment iNteraction Simulator 2 130
An Interactive Tool for Data Visualization and Clustering 126
The PPARγ2 Pro12Ala variant is protective against progression of nephropathy in people with type 2 diabetes 122
DNA methylation in intron 1 of the frataxin gene is related to GAA repeat length and age of onset in Friedreich's ataxia patients. 121
Pain and sleep disturbances in Rett syndrome and other neurodevelopmental disorders 119
Pro12Ala polymorphism in the PPARG gene contributes to the development of diabetic nephropaty in chinese type 2 diabetic patients: comment on the dtudy by Liu et a1. 117
Corrigendum to: Expanding the phenotype of DST -related disorder: A case report suggesting a genotype/phenotype correlation (American Journal of Medical Genetics Part A, (2017), 173, 10, (2743-2746), 10.1002/ajmg.a.38367) 117
Clustering, Assessment and Validation: an application to gene expression data 116
Solving unsolved rare neurological diseases—a Solve-RD viewpoint 116
Intrafamilial variability in SPTAN1-related disorder: From benign convulsions with mild gastroenteritis to developmental encephalopathy 115
Bi-allelic variants in CELSR3 are implicated in central nervous system and urinary tract anomalies 113
Bi-allelic variants in SPATA5L1 lead to intellectual disability, spastic-dystonic cerebral palsy, epilepsy, and hearing loss 113
Expanding the phenotype of DST-related disorder: A case report suggesting a genotype/phenotype correlation 111
The energy intake modulates the association of the 55CT polymorphism of UCP3 with body weight in type 2 diabetic patients 110
Schizophrenia and Vitamin D Related Genes Could Have Been Subject to Latitude-driven Adaptation. 108
Biallelic variants in CENPF causing a phenotype distinct from Strømme syndrome 107
Can telomere shortening in human peripheral blood leukocytes serve as a disease biomarker of Friedreich's ataxia? 107
Broad phenotypic spectrum and genotype-phenotype correlations in GMPPB-related dystroglycanopathies: An Italian cross-sectional study 106
Expansion of the phenotype of lateral meningocele syndrome 106
Milder presentation of TELO2-related syndrome in two sisters homozygous for the p.Arg609His pathogenic variant 105
Solve-RD: systematic pan-European data sharing and collaborative analysis to solve rare diseases 105
Solving patients with rare diseases through programmatic reanalysis of genome-phenome data 105
Genome-wide scan for signatures of human population differentiation and their relationship with natural selection, functional pathways and diseases. 104
Biochemical phenotyping unravels novel metabolic abnormalities and potential biomarkers associated with treatment of GLUT1 deficiency with ketogenic diet 104
Global metabolomic profiling unravels metabolite perturbations in Rett syndrome 103
Three de novo DDX3X variants associated with distinctive brain developmental abnormalities and brain tumor in intellectually disabled females. 100
Twist exome capture allows for lower average sequence coverage in clinical exome sequencing 99
An atlas of gene expression and gene co-regulation in the human retina 95
Interactive data analysis and clustering of genomic data. 94
VarGenius executes cohort-level DNA-seq variant calling and annotation and allows to manage the resulting data through a PostgreSQL database 92
Rare EIF4A2 variants are associated with a neurodevelopmental disorder characterized by intellectual disability, hypotonia, and epilepsy 91
Sinus pericranii, skull defects, and structural brain anomalies in TRAF7-related disorder 86
Paralog Studies Augment Gene Discovery: DDX and DHX Genes 85
Gait disturbance and lower limb pain in a patient with PIK3CA-related disorder 83
A Solve-RD ClinVar-based reanalysis of 1522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing 80
Aldo-keto reductase 1c1 (Akr1c1) as the first mutated gene in a family with nonsyndromic primary lipedema 78
De Novo Heterozygous POLR2A Variants Cause a Neurodevelopmental Syndrome with Profound Infantile-Onset Hypotonia 75
Variant-specific changes in RAC3 function disrupt corticogenesis in neurodevelopmental phenotypes 74
Periventricular heterotopia in a male child with USP9X missense variant 70
High-resolution analysis of the human retina miRNome reveals isomiR variations and novel microRNAs 70
Consolidating the Role of TDP2 Mutations in Recessive Spinocerebellar Ataxia Associated with Pediatric Onset Drug Resistant Epilepsy and Intellectual Disability (SCAR23) 70
A MT-TL1 variant identified by whole exome sequencing in an individual with intellectual disability, epilepsy, and spastic tetraparesis 69
A child with Myhre syndrome presenting with corectopia and tetralogy of Fallot 69
Definition of the transcriptional units of inherited retinal disease genes by meta-analysis of human retinal transcriptome data 67
De novo SMARCA2 variants clustered outside the helicase domain cause a new recognizable syndrome with intellectual disability and blepharophimosis distinct from Nicolaides–Baraitser syndrome 67
Sphingolipid metabolism perturbations in rett syndrome 64
An extremely severe phenotype attributed to WDR81 nonsense mutations 61
An Alu-mediated duplication in NMNAT1, involved in NAD biosynthesis, causes a novel syndrome, SHILCA, affecting multiple tissues and organs 60
SRSF1 haploinsufficiency is responsible for a syndromic developmental disorder associated with intellectual disability 59
Exome sequencing efficacy and phenotypic expansions involving esophageal atresia/tracheoesophageal fistula plus 57
Epileptic encephalopathy caused by ARV1 deficiency: Refinement of the genotype–phenotype spectrum and functional impact on GPI-anchored proteins 57
Retinal dystrophy in an individual carrying a de novo missense variant of SMARCA4 55
Postnatal microcephaly and retinal involvement expand the phenotype of RPL10-related disorder 54
A systems genomics approach identifies SIGLEC15 as a susceptibility factor in recurrent vulvovaginal candidiasis 51
Resources and tools for rare disease variant interpretation 47
Italian SARS-CoV-2 patients in intensive care: Towards an identikit for subjects at risk? 43
Best practices for germline variant and DNA methylation analysis of second- and third-generation sequencing data 6
A Complex Neurodevelopmental Phenotype Resembling a Chromatinopathy With Concurrent 7p Duplication and 10p Deletion Involving ZMYND11: A Case Report and Literature Review 4
Totale 7.668
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Categoria #
all - tutte 24.017
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 24.017
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2020/202123 0 0 0 0 0 0 0 0 0 0 11 12
2021/2022353 10 2 0 2 5 9 11 20 40 14 104 136
2022/2023509 64 45 20 30 67 57 2 49 70 77 26 2
2023/2024449 17 54 36 26 26 61 12 60 7 16 114 20
2024/20252.049 88 110 13 33 94 132 221 118 168 239 674 159
2025/20263.816 394 292 397 373 748 173 447 173 487 225 107 0
Totale 7.668