IRIS
PINELLI, MICHELE
 Distribuzione geografica
Salva come PNG Salva come JPEG
Continente #
AS - Asia 2.955
NA - Nord America 2.660
EU - Europa 1.789
SA - Sud America 332
Continente sconosciuto - Info sul continente non disponibili 116
AF - Africa 75
OC - Oceania 5
Totale 7.932
Salva come PNG Salva come JPEG
Nazione #
US - Stati Uniti d'America 2.549
SG - Singapore 1.281
RU - Federazione Russa 839
CN - Cina 548
VN - Vietnam 503
IT - Italia 314
BR - Brasile 254
HK - Hong Kong 254
DE - Germania 162
FR - Francia 96
NL - Olanda 95
IN - India 87
BD - Bangladesh 75
GB - Regno Unito 61
CA - Canada 58
JP - Giappone 56
FI - Finlandia 53
IE - Irlanda 38
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 17
ES - Italia 13
IQ - Iraq 13
ID - Indonesia 10
TR - Turchia 9
VE - Venezuela 9
TW - Taiwan 8
CR - Costa Rica 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
IL - Israele 4
KZ - Kazakistan 4
PE - Perù 4
DZ - Algeria 3
EG - Egitto 3
GR - Grecia 3
IR - Iran 3
JM - Giamaica 3
JO - Giordania 3
MY - Malesia 3
NG - Nigeria 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
KE - Kenya 2
KG - Kirghizistan 2
KH - Cambogia 2
ML - Mali 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
PR - Porto Rico 1
RE - Reunion 1
SC - Seychelles 1
Totale 7.809
Salva come PNG Salva come JPEG
Città #
Singapore 615
San Jose 434
Ashburn 282
Hong Kong 244
Chandler 229
Moscow 229
Beijing 178
Ho Chi Minh City 162
Santa Clara 147
Hanoi 119
Hefei 94
Dallas 86
Amsterdam 79
Naples 71
Lauterbourg 64
Los Angeles 52
Millbury 50
New York 49
Tokyo 49
Boston 45
Nanjing 36
The Dalles 33
Munich 32
Princeton 32
Buffalo 30
Des Moines 29
Napoli 28
São Paulo 27
Wilmington 27
Lawrence 26
Seattle 26
Redondo Beach 25
Da Nang 23
Orem 23
Pune 23
Jacksonville 22
Warsaw 22
Rome 21
Haiphong 19
Milan 19
Brooklyn 18
Chicago 18
Frankfurt am Main 18
Houston 16
Montreal 16
Seoul 16
Nuremberg 15
Ottawa 15
Chennai 14
Helsinki 14
Mexico City 14
Atlanta 13
London 13
Council Bluffs 12
Dong Ket 12
Manchester 12
Poplar 12
Baghdad 10
Bangkok 10
Falkenstein 9
Hải Dương 9
Johannesburg 9
Toronto 9
Turku 9
Washington 9
Brasília 8
Can Tho 8
Denver 8
Nanchang 8
Rio de Janeiro 8
Stockholm 8
Biên Hòa 7
Falls Church 7
Phoenix 7
Wuhan 7
Belo Horizonte 6
Boardman 6
Guayaquil 6
Hebei 6
Kochi 6
Mumbai 6
New Delhi 6
Redwood City 6
Reggio Emilia 6
San Francisco 6
San José 6
Vienna 6
Bari 5
Dublin 5
Jiaxing 5
Kronberg 5
Norwalk 5
Philadelphia 5
Quận Ba 5
Tianjin 5
Woodbridge 5
Zola Predosa 5
Baku 4
Charlotte 4
Columbus 4
Totale 4.333
Salva come PNG Salva come JPEG
Nome #
Identification of candidate children for maturity-onset diabetes of the young type 2 (MODY2) gene testing: a seven-item clinical flowchart (7-iF). 191
Diabete Tipo 1, Tipo 2 e Tipo X 163
Adiponectin gene polymorphism and metabolic syndrome 158
A novel approach to simulate gene-environment interactions in complex diseases 157
Beta2-adrenergic receptor and UCP3 variants modulate the relationship between age and type 2 diabetes mellitus 154
Dissecting genetics of spectrum of epilepsies with eyelid myoclonia by exome sequencing 153
Seven items flowchart (7-iF) for the clinical indication to GCK genetic test 151
The combination of UCP3-55CT and PPARγ2Pro12Ala polymorphisms affects BMI and substrate oxidation in two diabetic populations 150
Il Diabete Mitocondriale: se lo cerchi lo trovi. 148
Identifying Fabry patients in dialysis population: prevalence of GLA mutations by renal clinic screening, 1995–2019 143
Improving the Estimation of Celiac Disease Sibling Risk by Non-HLA Genes. 142
Identification of C12orf4 as a gene for autosomal recessive intellectual disability 141
A small 7q11.23 microduplication involving GTF2I in a family with intellectual disability 141
Absence of association between Pro12Ala polymorphism of the PPARy2 gene and diabetes 139
Pro12Ala polymorphism of the PPARgamma2 locus modulates the relationship between energy intake and body weight in type 2 diabetic patients 137
Uncoupling protein 2 G(-866)A polymorphism: a new gene polymorphism associated with C-reactive protein in type 2 diabetic patients. 135
Recombinant human erythropoietin increasesfrataxin protein expression without increasing mRNA expression 135
Biallelic variants in CENPF causing a phenotype distinct from Strømme syndrome 133
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 2 133
An Interactive Tool for Data Visualization and Clustering 127
Intrafamilial variability in SPTAN1-related disorder: From benign convulsions with mild gastroenteritis to developmental encephalopathy 127
Bi-allelic variants in CELSR3 are implicated in central nervous system and urinary tract anomalies 126
The PPARγ2 Pro12Ala variant is protective against progression of nephropathy in people with type 2 diabetes 125
Solving unsolved rare neurological diseases—a Solve-RD viewpoint 124
DNA methylation in intron 1 of the frataxin gene is related to GAA repeat length and age of onset in Friedreich's ataxia patients. 122
Pain and sleep disturbances in Rett syndrome and other neurodevelopmental disorders 122
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) 120
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. 119
Clustering, Assessment and Validation: an application to gene expression data 117
Bi-allelic variants in SPATA5L1 lead to intellectual disability, spastic-dystonic cerebral palsy, epilepsy, and hearing loss 115
Expanding the phenotype of DST-related disorder: A case report suggesting a genotype/phenotype correlation 113
Broad phenotypic spectrum and genotype-phenotype correlations in GMPPB-related dystroglycanopathies: An Italian cross-sectional study 113
The energy intake modulates the association of the 55CT polymorphism of UCP3 with body weight in type 2 diabetic patients 112
Solve-RD: systematic pan-European data sharing and collaborative analysis to solve rare diseases 112
Schizophrenia and Vitamin D Related Genes Could Have Been Subject to Latitude-driven Adaptation. 110
Can telomere shortening in human peripheral blood leukocytes serve as a disease biomarker of Friedreich's ataxia? 108
Expansion of the phenotype of lateral meningocele syndrome 108
Milder presentation of TELO2-related syndrome in two sisters homozygous for the p.Arg609His pathogenic variant 108
Solving patients with rare diseases through programmatic reanalysis of genome-phenome data 108
Biochemical phenotyping unravels novel metabolic abnormalities and potential biomarkers associated with treatment of GLUT1 deficiency with ketogenic diet 105
Genome-wide scan for signatures of human population differentiation and their relationship with natural selection, functional pathways and diseases. 104
Global metabolomic profiling unravels metabolite perturbations in Rett syndrome 104
Three de novo DDX3X variants associated with distinctive brain developmental abnormalities and brain tumor in intellectually disabled females. 102
Twist exome capture allows for lower average sequence coverage in clinical exome sequencing 100
An atlas of gene expression and gene co-regulation in the human retina 96
VarGenius executes cohort-level DNA-seq variant calling and annotation and allows to manage the resulting data through a PostgreSQL database 96
Interactive data analysis and clustering of genomic data. 95
Sinus pericranii, skull defects, and structural brain anomalies in TRAF7-related disorder 92
Rare EIF4A2 variants are associated with a neurodevelopmental disorder characterized by intellectual disability, hypotonia, and epilepsy 91
A Solve-RD ClinVar-based reanalysis of 1522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing 89
Paralog Studies Augment Gene Discovery: DDX and DHX Genes 86
Gait disturbance and lower limb pain in a patient with PIK3CA-related disorder 83
Aldo-keto reductase 1c1 (Akr1c1) as the first mutated gene in a family with nonsyndromic primary lipedema 78
A MT-TL1 variant identified by whole exome sequencing in an individual with intellectual disability, epilepsy, and spastic tetraparesis 76
De Novo Heterozygous POLR2A Variants Cause a Neurodevelopmental Syndrome with Profound Infantile-Onset Hypotonia 76
Variant-specific changes in RAC3 function disrupt corticogenesis in neurodevelopmental phenotypes 75
High-resolution analysis of the human retina miRNome reveals isomiR variations and novel microRNAs 75
A child with Myhre syndrome presenting with corectopia and tetralogy of Fallot 72
Consolidating the Role of TDP2 Mutations in Recessive Spinocerebellar Ataxia Associated with Pediatric Onset Drug Resistant Epilepsy and Intellectual Disability (SCAR23) 72
Periventricular heterotopia in a male child with USP9X missense variant 71
De novo SMARCA2 variants clustered outside the helicase domain cause a new recognizable syndrome with intellectual disability and blepharophimosis distinct from Nicolaides–Baraitser syndrome 70
Definition of the transcriptional units of inherited retinal disease genes by meta-analysis of human retinal transcriptome data 69
Sphingolipid metabolism perturbations in rett syndrome 68
SRSF1 haploinsufficiency is responsible for a syndromic developmental disorder associated with intellectual disability 65
An Alu-mediated duplication in NMNAT1, involved in NAD biosynthesis, causes a novel syndrome, SHILCA, affecting multiple tissues and organs 64
An extremely severe phenotype attributed to WDR81 nonsense mutations 63
Epileptic encephalopathy caused by ARV1 deficiency: Refinement of the genotype–phenotype spectrum and functional impact on GPI-anchored proteins 59
Exome sequencing efficacy and phenotypic expansions involving esophageal atresia/tracheoesophageal fistula plus 58
Retinal dystrophy in an individual carrying a de novo missense variant of SMARCA4 56
Postnatal microcephaly and retinal involvement expand the phenotype of RPL10-related disorder 56
A systems genomics approach identifies SIGLEC15 as a susceptibility factor in recurrent vulvovaginal candidiasis 54
Resources and tools for rare disease variant interpretation 52
Italian SARS-CoV-2 patients in intensive care: Towards an identikit for subjects at risk? 48
Telethon Undiagnosed Disease Program: Structured approach to solving rare childhood-onset genetic diseases 24
Best practices for germline variant and DNA methylation analysis of second- and third-generation sequencing data 9
A Complex Neurodevelopmental Phenotype Resembling a Chromatinopathy With Concurrent 7p Duplication and 10p Deletion Involving ZMYND11: A Case Report and Literature Review 6
Totale 7.932
Salva come PNG Salva come JPEG
Categoria #
all - tutte 26.220
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 26.220
Salva come PNG Salva come JPEG


Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2021/2022343 0 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
2025/20263.976 394 292 397 373 748 173 447 173 487 225 112 155
2026/2027104 73 31 0 0 0 0 0 0 0 0 0 0
Totale 7.932