IRIS
PINELLI, MICHELE
 Distribuzione geografica
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Continente #
AS - Asia 2.250
NA - Nord America 1.887
EU - Europa 1.632
SA - Sud America 309
AF - Africa 62
OC - Oceania 4
Continente sconosciuto - Info sul continente non disponibili 2
Totale 6.146
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Nazione #
US - Stati Uniti d'America 1.810
SG - Singapore 1.220
RU - Federazione Russa 839
CN - Cina 502
IT - Italia 252
BR - Brasile 244
HK - Hong Kong 234
DE - Germania 158
VN - Vietnam 139
NL - Olanda 89
GB - Regno Unito 56
IN - India 56
FI - Finlandia 53
CA - Canada 39
IE - Irlanda 37
PL - Polonia 30
MX - Messico 24
AR - Argentina 23
UA - Ucraina 23
FR - Francia 22
SE - Svezia 22
CI - Costa d'Avorio 21
BD - Bangladesh 19
AT - Austria 18
ZA - Sudafrica 17
JP - Giappone 16
KR - Corea 16
EC - Ecuador 15
ES - Italia 12
TR - Turchia 9
LT - Lituania 7
VE - Venezuela 7
ID - Indonesia 5
PY - Paraguay 5
TN - Tunisia 5
AZ - Azerbaigian 4
CO - Colombia 4
IL - Israele 4
SA - Arabia Saudita 4
CL - Cile 3
EG - Egitto 3
GR - Grecia 3
IQ - Iraq 3
IR - Iran 3
MA - Marocco 3
PE - Perù 3
UY - Uruguay 3
AM - Armenia 2
BE - Belgio 2
CH - Svizzera 2
CR - Costa Rica 2
DZ - Algeria 2
ET - Etiopia 2
JM - Giamaica 2
KH - Cambogia 2
NI - Nicaragua 2
NZ - Nuova Zelanda 2
PA - Panama 2
PK - Pakistan 2
RO - Romania 2
AE - Emirati Arabi Uniti 1
AU - Australia 1
BG - Bulgaria 1
BH - Bahrain 1
BW - Botswana 1
CV - Capo Verde 1
CW - ???statistics.table.value.countryCode.CW??? 1
CY - Cipro 1
CZ - Repubblica Ceca 1
DO - Repubblica Dominicana 1
GD - Grenada 1
GF - Guiana Francese 1
GN - Guinea 1
GP - Guadalupe 1
GY - Guiana 1
HN - Honduras 1
IS - Islanda 1
JO - Giordania 1
KE - Kenya 1
KG - Kirghizistan 1
KZ - Kazakistan 1
LB - Libano 1
LC - Santa Lucia 1
MR - Mauritania 1
NG - Nigeria 1
PG - Papua Nuova Guinea 1
PH - Filippine 1
RE - Reunion 1
SI - Slovenia 1
SK - Slovacchia (Repubblica Slovacca) 1
SN - Senegal 1
SY - Repubblica araba siriana 1
TT - Trinidad e Tobago 1
TZ - Tanzania 1
UZ - Uzbekistan 1
XK - ???statistics.table.value.countryCode.XK??? 1
Totale 6.146
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Città #
Singapore 568
Hong Kong 232
Chandler 229
Moscow 229
Ashburn 198
Beijing 172
Santa Clara 138
Hefei 94
Amsterdam 78
Dallas 76
Naples 68
Ho Chi Minh City 57
Millbury 50
Boston 45
Los Angeles 44
New York 38
Nanjing 36
Munich 32
Princeton 32
San Jose 30
Buffalo 28
Napoli 28
Des Moines 27
Lawrence 26
Wilmington 26
Redondo Beach 25
Seattle 25
São Paulo 24
Hanoi 22
Pune 22
Warsaw 22
Jacksonville 19
Seoul 16
Nuremberg 15
Orem 15
Ottawa 15
Brooklyn 14
Frankfurt am Main 14
Helsinki 14
Houston 14
Rome 14
Tokyo 14
Dong Ket 12
Manchester 12
Chicago 11
London 11
Mexico City 11
Montreal 11
Poplar 11
Atlanta 10
Milan 10
Falkenstein 9
Haiphong 9
Turku 9
Brasília 8
Chennai 8
Nanchang 8
Rio de Janeiro 8
Stockholm 8
Washington 8
Denver 7
Falls Church 7
Johannesburg 7
The Dalles 7
Wuhan 7
Belo Horizonte 6
Boardman 6
Hebei 6
Kochi 6
Redwood City 6
Dublin 5
Guayaquil 5
Jiaxing 5
Kronberg 5
Norwalk 5
Toronto 5
Vienna 5
Woodbridge 5
Can Tho 4
Juiz de Fora 4
New Delhi 4
Phoenix 4
Tianjin 4
Tunis 4
West Jordan 4
Ankara 3
Annapolis 3
Baghdad 3
Baku 3
Bari 3
Biên Hòa 3
Bologna 3
Casoria 3
Charlotte 3
Columbus 3
Contagem 3
Corbara 3
Duncan 3
Düsseldorf 3
Elk Grove Village 3
Totale 3.237
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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). 160
A novel approach to simulate gene-environment interactions in complex diseases 138
Diabete Tipo 1, Tipo 2 e Tipo X 131
Adiponectin gene polymorphism and metabolic syndrome 130
Seven items flowchart (7-iF) for the clinical indication to GCK genetic test 123
The combination of UCP3-55CT and PPARγ2Pro12Ala polymorphisms affects BMI and substrate oxidation in two diabetic populations 122
Recombinant human erythropoietin increasesfrataxin protein expression without increasing mRNA expression 121
A small 7q11.23 microduplication involving GTF2I in a family with intellectual disability 121
Beta2-adrenergic receptor and UCP3 variants modulate the relationship between age and type 2 diabetes mellitus 120
Improving the Estimation of Celiac Disease Sibling Risk by Non-HLA Genes. 120
Uncoupling protein 2 G(-866)A polymorphism: a new gene polymorphism associated with C-reactive protein in type 2 diabetic patients. 118
Pro12Ala polymorphism of the PPARgamma2 locus modulates the relationship between energy intake and body weight in type 2 diabetic patients 116
PPAR-gamma Agonist Azelaoyl PAF Increases Frataxin Protein and mRNA Expression. New Implications for the Friedreich's Ataxia Therapy 116
Simulating gene-gene and gene-environment interactions in complex diseases: Gene-Environment iNteraction Simulator 2 115
An Interactive Tool for Data Visualization and Clustering 113
Identification of C12orf4 as a gene for autosomal recessive intellectual disability 111
DNA methylation in intron 1 of the frataxin gene is related to GAA repeat length and age of onset in Friedreich's ataxia patients. 109
Il Diabete Mitocondriale: se lo cerchi lo trovi. 109
Absence of association between Pro12Ala polymorphism of the PPARy2 gene and diabetes 106
Identifying Fabry patients in dialysis population: prevalence of GLA mutations by renal clinic screening, 1995–2019 105
The PPARγ2 Pro12Ala variant is protective against progression of nephropathy in people with type 2 diabetes 104
Dissecting genetics of spectrum of epilepsies with eyelid myoclonia by exome sequencing 102
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. 98
Intrafamilial variability in SPTAN1-related disorder: From benign convulsions with mild gastroenteritis to developmental encephalopathy 98
Clustering, Assessment and Validation: an application to gene expression data 97
Pain and sleep disturbances in Rett syndrome and other neurodevelopmental disorders 97
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) 96
Can telomere shortening in human peripheral blood leukocytes serve as a disease biomarker of Friedreich's ataxia? 94
Biallelic variants in CENPF causing a phenotype distinct from Strømme syndrome 93
The energy intake modulates the association of the 55CT polymorphism of UCP3 with body weight in type 2 diabetic patients 93
Solving unsolved rare neurological diseases—a Solve-RD viewpoint 92
Milder presentation of TELO2-related syndrome in two sisters homozygous for the p.Arg609His pathogenic variant 91
Schizophrenia and Vitamin D Related Genes Could Have Been Subject to Latitude-driven Adaptation. 90
Bi-allelic variants in CELSR3 are implicated in central nervous system and urinary tract anomalies 89
Genome-wide scan for signatures of human population differentiation and their relationship with natural selection, functional pathways and diseases. 89
Bi-allelic variants in SPATA5L1 lead to intellectual disability, spastic-dystonic cerebral palsy, epilepsy, and hearing loss 89
Expanding the phenotype of DST-related disorder: A case report suggesting a genotype/phenotype correlation 85
Biochemical phenotyping unravels novel metabolic abnormalities and potential biomarkers associated with treatment of GLUT1 deficiency with ketogenic diet 83
Solve-RD: systematic pan-European data sharing and collaborative analysis to solve rare diseases 83
Interactive data analysis and clustering of genomic data. 82
Expansion of the phenotype of lateral meningocele syndrome 82
Twist exome capture allows for lower average sequence coverage in clinical exome sequencing 79
An atlas of gene expression and gene co-regulation in the human retina 79
Broad phenotypic spectrum and genotype-phenotype correlations in GMPPB-related dystroglycanopathies: An Italian cross-sectional study 79
Global metabolomic profiling unravels metabolite perturbations in Rett syndrome 79
Solving patients with rare diseases through programmatic reanalysis of genome-phenome data 79
Rare EIF4A2 variants are associated with a neurodevelopmental disorder characterized by intellectual disability, hypotonia, and epilepsy 77
Three de novo DDX3X variants associated with distinctive brain developmental abnormalities and brain tumor in intellectually disabled females. 77
VarGenius executes cohort-level DNA-seq variant calling and annotation and allows to manage the resulting data through a PostgreSQL database 75
Paralog Studies Augment Gene Discovery: DDX and DHX Genes 73
Gait disturbance and lower limb pain in a patient with PIK3CA-related disorder 69
A Solve-RD ClinVar-based reanalysis of 1522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing 64
Sinus pericranii, skull defects, and structural brain anomalies in TRAF7-related disorder 63
Periventricular heterotopia in a male child with USP9X missense variant 62
Variant-specific changes in RAC3 function disrupt corticogenesis in neurodevelopmental phenotypes 62
Definition of the transcriptional units of inherited retinal disease genes by meta-analysis of human retinal transcriptome data 60
A child with Myhre syndrome presenting with corectopia and tetralogy of Fallot 58
Aldo-keto reductase 1c1 (Akr1c1) as the first mutated gene in a family with nonsyndromic primary lipedema 57
Consolidating the Role of TDP2 Mutations in Recessive Spinocerebellar Ataxia Associated with Pediatric Onset Drug Resistant Epilepsy and Intellectual Disability (SCAR23) 56
De Novo Heterozygous POLR2A Variants Cause a Neurodevelopmental Syndrome with Profound Infantile-Onset Hypotonia 55
High-resolution analysis of the human retina miRNome reveals isomiR variations and novel microRNAs 54
De novo SMARCA2 variants clustered outside the helicase domain cause a new recognizable syndrome with intellectual disability and blepharophimosis distinct from Nicolaides–Baraitser syndrome 54
An extremely severe phenotype attributed to WDR81 nonsense mutations 51
A MT-TL1 variant identified by whole exome sequencing in an individual with intellectual disability, epilepsy, and spastic tetraparesis 50
An Alu-mediated duplication in NMNAT1, involved in NAD biosynthesis, causes a novel syndrome, SHILCA, affecting multiple tissues and organs 50
Exome sequencing efficacy and phenotypic expansions involving esophageal atresia/tracheoesophageal fistula plus 47
Retinal dystrophy in an individual carrying a de novo missense variant of SMARCA4 47
SRSF1 haploinsufficiency is responsible for a syndromic developmental disorder associated with intellectual disability 44
Sphingolipid metabolism perturbations in rett syndrome 42
A systems genomics approach identifies SIGLEC15 as a susceptibility factor in recurrent vulvovaginal candidiasis 40
Postnatal microcephaly and retinal involvement expand the phenotype of RPL10-related disorder 40
Epileptic encephalopathy caused by ARV1 deficiency: Refinement of the genotype–phenotype spectrum and functional impact on GPI-anchored proteins 37
Resources and tools for rare disease variant interpretation 35
Italian SARS-CoV-2 patients in intensive care: Towards an identikit for subjects at risk? 32
Totale 6.257
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Categoria #
all - tutte 20.926
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 20.926
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2020/202148 0 0 0 0 0 0 6 2 15 2 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
2025/20262.405 394 292 397 373 748 173 28 0 0 0 0 0
Totale 6.257