IRIS
PINELLI, MICHELE
 Distribuzione geografica
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Continente #
AS - Asia 2.961
NA - Nord America 2.812
EU - Europa 1.797
SA - Sud America 337
Continente sconosciuto - Info sul continente non disponibili 116
AF - Africa 75
OC - Oceania 5
Totale 8.103
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Nazione #
US - Stati Uniti d'America 2.694
SG - Singapore 1.282
RU - Federazione Russa 839
CN - Cina 548
VN - Vietnam 505
IT - Italia 320
BR - Brasile 256
HK - Hong Kong 254
DE - Germania 162
FR - Francia 96
NL - Olanda 95
IN - India 87
BD - Bangladesh 77
GB - Regno Unito 62
CA - Canada 59
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
EC - Ecuador 19
ZA - Sudafrica 19
PH - Filippine 18
ES - Italia 13
IQ - Iraq 13
ID - Indonesia 10
TR - Turchia 9
VE - Venezuela 9
TW - Taiwan 8
CO - Colombia 7
CR - Costa Rica 7
LT - Lituania 7
MA - Marocco 6
AZ - Azerbaigian 5
JM - Giamaica 5
PY - Paraguay 5
SA - Arabia Saudita 5
TN - Tunisia 5
CL - Cile 4
IL - Israele 4
KZ - Kazakistan 4
PE - Perù 4
DO - Repubblica Dominicana 3
DZ - Algeria 3
EG - Egitto 3
GR - Grecia 3
IR - Iran 3
JO - Giordania 3
MY - Malesia 3
NG - Nigeria 3
PA - Panama 3
PK - Pakistan 3
PR - Porto Rico 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
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
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
PT - Portogallo 1
RE - Reunion 1
Totale 7.979
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Città #
Singapore 615
San Jose 461
Ashburn 283
Hong Kong 244
Chandler 229
Moscow 229
Beijing 178
Ho Chi Minh City 163
Santa Clara 152
Hanoi 120
Hefei 94
Dallas 87
Amsterdam 79
Naples 71
Council Bluffs 66
Lauterbourg 64
Los Angeles 52
New York 51
Millbury 50
Tokyo 49
Boston 45
Nanjing 36
The Dalles 33
Munich 32
Princeton 32
Buffalo 30
Des Moines 29
Napoli 28
São Paulo 28
Seattle 27
Wilmington 27
Lawrence 26
Phoenix 25
Redondo Beach 25
Da Nang 23
Orem 23
Pune 23
Jacksonville 22
Warsaw 22
Rome 21
Milan 20
Haiphong 19
Brooklyn 18
Chicago 18
Frankfurt am Main 18
Houston 16
Montreal 16
Seoul 16
Nuremberg 15
Ottawa 15
Atlanta 14
Chennai 14
Helsinki 14
Mexico City 14
London 13
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
Guayaquil 7
Philadelphia 7
Wuhan 7
Belo Horizonte 6
Boardman 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
Quận Ba 5
Tianjin 5
Woodbridge 5
Zola Predosa 5
Baku 4
Charlotte 4
Columbus 4
Totale 4.450
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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). 192
Diabete Tipo 1, Tipo 2 e Tipo X 166
A novel approach to simulate gene-environment interactions in complex diseases 162
Dissecting genetics of spectrum of epilepsies with eyelid myoclonia by exome sequencing 159
Adiponectin gene polymorphism and metabolic syndrome 159
Beta2-adrenergic receptor and UCP3 variants modulate the relationship between age and type 2 diabetes mellitus 156
The combination of UCP3-55CT and PPARγ2Pro12Ala polymorphisms affects BMI and substrate oxidation in two diabetic populations 153
Seven items flowchart (7-iF) for the clinical indication to GCK genetic test 152
Il Diabete Mitocondriale: se lo cerchi lo trovi. 149
Identification of C12orf4 as a gene for autosomal recessive intellectual disability 147
Improving the Estimation of Celiac Disease Sibling Risk by Non-HLA Genes. 144
A small 7q11.23 microduplication involving GTF2I in a family with intellectual disability 144
Identifying Fabry patients in dialysis population: prevalence of GLA mutations by renal clinic screening, 1995–2019 144
Absence of association between Pro12Ala polymorphism of the PPARy2 gene and diabetes 141
Pro12Ala polymorphism of the PPARgamma2 locus modulates the relationship between energy intake and body weight in type 2 diabetic patients 140
Uncoupling protein 2 G(-866)A polymorphism: a new gene polymorphism associated with C-reactive protein in type 2 diabetic patients. 138
Recombinant human erythropoietin increasesfrataxin protein expression without increasing mRNA expression 138
Biallelic variants in CENPF causing a phenotype distinct from Strømme syndrome 136
PPAR-gamma Agonist Azelaoyl PAF Increases Frataxin Protein and mRNA Expression. New Implications for the Friedreich's Ataxia Therapy 135
Simulating gene-gene and gene-environment interactions in complex diseases: Gene-Environment iNteraction Simulator 2 135
An Interactive Tool for Data Visualization and Clustering 129
Bi-allelic variants in CELSR3 are implicated in central nervous system and urinary tract anomalies 128
The PPARγ2 Pro12Ala variant is protective against progression of nephropathy in people with type 2 diabetes 128
Intrafamilial variability in SPTAN1-related disorder: From benign convulsions with mild gastroenteritis to developmental encephalopathy 128
Solving unsolved rare neurological diseases—a Solve-RD viewpoint 126
DNA methylation in intron 1 of the frataxin gene is related to GAA repeat length and age of onset in Friedreich's ataxia patients. 124
Pain and sleep disturbances in Rett syndrome and other neurodevelopmental disorders 123
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. 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) 122
Clustering, Assessment and Validation: an application to gene expression data 118
Bi-allelic variants in SPATA5L1 lead to intellectual disability, spastic-dystonic cerebral palsy, epilepsy, and hearing loss 117
Broad phenotypic spectrum and genotype-phenotype correlations in GMPPB-related dystroglycanopathies: An Italian cross-sectional study 116
Solve-RD: systematic pan-European data sharing and collaborative analysis to solve rare diseases 116
The energy intake modulates the association of the 55CT polymorphism of UCP3 with body weight in type 2 diabetic patients 115
Expanding the phenotype of DST-related disorder: A case report suggesting a genotype/phenotype correlation 114
Schizophrenia and Vitamin D Related Genes Could Have Been Subject to Latitude-driven Adaptation. 113
Milder presentation of TELO2-related syndrome in two sisters homozygous for the p.Arg609His pathogenic variant 112
Solving patients with rare diseases through programmatic reanalysis of genome-phenome data 111
Can telomere shortening in human peripheral blood leukocytes serve as a disease biomarker of Friedreich's ataxia? 110
Expansion of the phenotype of lateral meningocele syndrome 109
Biochemical phenotyping unravels novel metabolic abnormalities and potential biomarkers associated with treatment of GLUT1 deficiency with ketogenic diet 108
Genome-wide scan for signatures of human population differentiation and their relationship with natural selection, functional pathways and diseases. 106
Global metabolomic profiling unravels metabolite perturbations in Rett syndrome 105
Three de novo DDX3X variants associated with distinctive brain developmental abnormalities and brain tumor in intellectually disabled females. 104
Twist exome capture allows for lower average sequence coverage in clinical exome sequencing 101
VarGenius executes cohort-level DNA-seq variant calling and annotation and allows to manage the resulting data through a PostgreSQL database 99
Interactive data analysis and clustering of genomic data. 98
An atlas of gene expression and gene co-regulation in the human retina 96
Rare EIF4A2 variants are associated with a neurodevelopmental disorder characterized by intellectual disability, hypotonia, and epilepsy 95
Sinus pericranii, skull defects, and structural brain anomalies in TRAF7-related disorder 93
A Solve-RD ClinVar-based reanalysis of 1522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing 90
Paralog Studies Augment Gene Discovery: DDX and DHX Genes 89
Gait disturbance and lower limb pain in a patient with PIK3CA-related disorder 84
De Novo Heterozygous POLR2A Variants Cause a Neurodevelopmental Syndrome with Profound Infantile-Onset Hypotonia 82
Aldo-keto reductase 1c1 (Akr1c1) as the first mutated gene in a family with nonsyndromic primary lipedema 81
A MT-TL1 variant identified by whole exome sequencing in an individual with intellectual disability, epilepsy, and spastic tetraparesis 78
SRSF1 haploinsufficiency is responsible for a syndromic developmental disorder associated with intellectual disability 77
Variant-specific changes in RAC3 function disrupt corticogenesis in neurodevelopmental phenotypes 76
High-resolution analysis of the human retina miRNome reveals isomiR variations and novel microRNAs 76
A child with Myhre syndrome presenting with corectopia and tetralogy of Fallot 75
Periventricular heterotopia in a male child with USP9X missense variant 73
Consolidating the Role of TDP2 Mutations in Recessive Spinocerebellar Ataxia Associated with Pediatric Onset Drug Resistant Epilepsy and Intellectual Disability (SCAR23) 72
De novo SMARCA2 variants clustered outside the helicase domain cause a new recognizable syndrome with intellectual disability and blepharophimosis distinct from Nicolaides–Baraitser syndrome 72
Sphingolipid metabolism perturbations in rett syndrome 70
Definition of the transcriptional units of inherited retinal disease genes by meta-analysis of human retinal transcriptome data 69
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 61
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 58
Postnatal microcephaly and retinal involvement expand the phenotype of RPL10-related disorder 57
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 27
Best practices for germline variant and DNA methylation analysis of second- and third-generation sequencing data 11
A Complex Neurodevelopmental Phenotype Resembling a Chromatinopathy With Concurrent 7p Duplication and 10p Deletion Involving ZMYND11: A Case Report and Literature Review 10
Totale 8.103
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Categoria #
all - tutte 27.093
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 27.093
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2021/2022341 0 0 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
2026/2027275 73 179 23 0 0 0 0 0 0 0 0 0
Totale 8.103