IRIS
PINELLI, MICHELE
 Distribuzione geografica
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Continente #
NA - Nord America 1.112
EU - Europa 483
AS - Asia 415
AF - Africa 19
OC - Oceania 2
SA - Sud America 1
Totale 2.032
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Nazione #
US - Stati Uniti d'America 1.094
SG - Singapore 214
IT - Italia 205
CN - Cina 150
DE - Germania 77
NL - Olanda 77
IE - Irlanda 37
FI - Finlandia 33
IN - India 28
CI - Costa d'Avorio 19
CA - Canada 17
UA - Ucraina 14
SE - Svezia 13
VN - Vietnam 12
GB - Regno Unito 8
FR - Francia 5
GR - Grecia 3
HK - Hong Kong 3
PL - Polonia 3
CH - Svizzera 2
ES - Italia 2
IL - Israele 2
IR - Iran 2
JP - Giappone 2
RO - Romania 2
AR - Argentina 1
AU - Australia 1
BE - Belgio 1
LT - Lituania 1
MX - Messico 1
NZ - Nuova Zelanda 1
SA - Arabia Saudita 1
TR - Turchia 1
Totale 2.032
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Città #
Chandler 229
Singapore 178
Ashburn 89
Amsterdam 74
Naples 56
Santa Clara 54
Millbury 50
Beijing 48
Boston 39
Nanjing 36
Princeton 32
Napoli 28
Des Moines 27
Lawrence 26
Wilmington 25
Pune 22
Jacksonville 19
Seattle 15
Ottawa 14
Dong Ket 12
Rome 11
Dallas 10
Houston 8
Nanchang 8
Washington 8
Falls Church 7
Milan 7
Munich 7
Hebei 6
Redwood City 6
Boardman 5
Dublin 5
Jiaxing 5
Kronberg 5
Los Angeles 5
Norwalk 5
Woodbridge 5
New York 4
West Jordan 4
Casoria 3
Corbara 3
Duncan 3
Helsinki 3
Hong Kong 3
Krakow 3
Lappeenranta 3
Mountain View 3
Pomezia 3
Salerno 3
Shenyang 3
Tianjin 3
Wuhan 3
Ardabil 2
Ariano Irpino 2
Bologna 2
Covington 2
Ercolano 2
Ferrara 2
Gualtieri 2
Indiana 2
Pannarano 2
Porcari 2
San Francisco 2
Sassari 2
Shanghai 2
Tel Aviv 2
Aix-en-provence 1
Arienzo 1
Asti 1
Auckland 1
Augusta 1
Brussels 1
Cambridge 1
Campobasso 1
Capannori 1
Cormeilles-en-Parisis 1
Council Bluffs 1
Dearborn 1
Edison 1
Formia 1
Fort Worth 1
Foshan 1
Frattaminore 1
Genoa 1
Gurgaon 1
Göttingen 1
Hangzhou 1
Horia 1
Kagoya 1
Lake Forest 1
Leesburg 1
London 1
Mumbai 1
New Delhi 1
Novara 1
Piraeus 1
Pozza di Fassa 1
Prineville 1
Río Cuarto 1
San Nicola 1
Totale 1.295
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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). 65
Diabete Tipo 1, Tipo 2 e Tipo X 61
An Interactive Tool for Data Visualization and Clustering 56
Adiponectin gene polymorphism and metabolic syndrome 56
Recombinant human erythropoietin increasesfrataxin protein expression without increasing mRNA expression 55
PPAR-gamma Agonist Azelaoyl PAF Increases Frataxin Protein and mRNA Expression. New Implications for the Friedreich's Ataxia Therapy 51
A novel approach to simulate gene-environment interactions in complex diseases 50
Pro12Ala polymorphism of the PPARgamma2 locus modulates the relationship between energy intake and body weight in type 2 diabetic patients 49
A small 7q11.23 microduplication involving GTF2I in a family with intellectual disability 49
Beta2-adrenergic receptor and UCP3 variants modulate the relationship between age and type 2 diabetes mellitus 48
Il Diabete Mitocondriale: se lo cerchi lo trovi. 48
DNA methylation in intron 1 of the frataxin gene is related to GAA repeat length and age of onset in Friedreich's ataxia patients. 44
Improving the Estimation of Celiac Disease Sibling Risk by Non-HLA Genes. 44
Uncoupling protein 2 G(-866)A polymorphism: a new gene polymorphism associated with C-reactive protein in type 2 diabetic patients. 42
The combination of UCP3-55CT and PPARγ2Pro12Ala polymorphisms affects BMI and substrate oxidation in two diabetic populations 42
The PPARγ2 Pro12Ala variant is protective against progression of nephropathy in people with type 2 diabetes 42
An atlas of gene expression and gene co-regulation in the human retina 41
Identifying Fabry patients in dialysis population: prevalence of GLA mutations by renal clinic screening, 1995–2019 40
Paralog Studies Augment Gene Discovery: DDX and DHX Genes 38
Intrafamilial variability in SPTAN1-related disorder: From benign convulsions with mild gastroenteritis to developmental encephalopathy 38
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) 37
Clustering, Assessment and Validation: an application to gene expression data 36
Simulating gene-gene and gene-environment interactions in complex diseases: Gene-Environment iNteraction Simulator 2 36
Absence of association between Pro12Ala polymorphism of the PPARy2 gene and diabetes 35
VarGenius executes cohort-level DNA-seq variant calling and annotation and allows to manage the resulting data through a PostgreSQL database 35
Pain and sleep disturbances in Rett syndrome and other neurodevelopmental disorders 35
Seven items flowchart (7-iF) for the clinical indication to GCK genetic test 33
Identification of C12orf4 as a gene for autosomal recessive intellectual disability 33
Bi-allelic variants in SPATA5L1 lead to intellectual disability, spastic-dystonic cerebral palsy, epilepsy, and hearing loss 32
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. 31
A child with Myhre syndrome presenting with corectopia and tetralogy of Fallot 31
Consolidating the Role of TDP2 Mutations in Recessive Spinocerebellar Ataxia Associated with Pediatric Onset Drug Resistant Epilepsy and Intellectual Disability (SCAR23) 31
Genome-wide scan for signatures of human population differentiation and their relationship with natural selection, functional pathways and diseases. 30
Schizophrenia and Vitamin D Related Genes Could Have Been Subject to Latitude-driven Adaptation. 30
Milder presentation of TELO2-related syndrome in two sisters homozygous for the p.Arg609His pathogenic variant 30
The energy intake modulates the association of the 55CT polymorphism of UCP3 with body weight in type 2 diabetic patients 29
Three de novo DDX3X variants associated with distinctive brain developmental abnormalities and brain tumor in intellectually disabled females. 29
Aldo-keto reductase 1c1 (Akr1c1) as the first mutated gene in a family with nonsyndromic primary lipedema 28
Dissecting genetics of spectrum of epilepsies with eyelid myoclonia by exome sequencing 27
Can telomere shortening in human peripheral blood leukocytes serve as a disease biomarker of Friedreich's ataxia? 27
Expansion of the phenotype of lateral meningocele syndrome 27
Biochemical phenotyping unravels novel metabolic abnormalities and potential biomarkers associated with treatment of GLUT1 deficiency with ketogenic diet 26
Biallelic variants in CENPF causing a phenotype distinct from Strømme syndrome 24
Interactive data analysis and clustering of genomic data. 24
An extremely severe phenotype attributed to WDR81 nonsense mutations 24
High-resolution analysis of the human retina miRNome reveals isomiR variations and novel microRNAs 23
An Alu-mediated duplication in NMNAT1, involved in NAD biosynthesis, causes a novel syndrome, SHILCA, affecting multiple tissues and organs 23
Solve-RD: systematic pan-European data sharing and collaborative analysis to solve rare diseases 23
Expanding the phenotype of DST-related disorder: A case report suggesting a genotype/phenotype correlation 22
Global metabolomic profiling unravels metabolite perturbations in Rett syndrome 22
Solving patients with rare diseases through programmatic reanalysis of genome-phenome data 21
Solving unsolved rare neurological diseases—a Solve-RD viewpoint 21
Broad phenotypic spectrum and genotype-phenotype correlations in GMPPB-related dystroglycanopathies: An Italian cross-sectional study 20
Bi-allelic variants in CELSR3 are implicated in central nervous system and urinary tract anomalies 18
Sinus pericranii, skull defects, and structural brain anomalies in TRAF7-related disorder 18
Gait disturbance and lower limb pain in a patient with PIK3CA-related disorder 17
De Novo Heterozygous POLR2A Variants Cause a Neurodevelopmental Syndrome with Profound Infantile-Onset Hypotonia 17
De novo SMARCA2 variants clustered outside the helicase domain cause a new recognizable syndrome with intellectual disability and blepharophimosis distinct from Nicolaides–Baraitser syndrome 16
Variant-specific changes in RAC3 function disrupt corticogenesis in neurodevelopmental phenotypes 15
Periventricular heterotopia in a male child with USP9X missense variant 14
A Solve-RD ClinVar-based reanalysis of 1522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing 14
Retinal dystrophy in an individual carrying a de novo missense variant of SMARCA4 14
Rare EIF4A2 variants are associated with a neurodevelopmental disorder characterized by intellectual disability, hypotonia, and epilepsy 13
Sphingolipid metabolism perturbations in rett syndrome 13
Postnatal microcephaly and retinal involvement expand the phenotype of RPL10-related disorder 13
Twist exome capture allows for lower average sequence coverage in clinical exome sequencing 12
Epileptic encephalopathy caused by ARV1 deficiency: Refinement of the genotype–phenotype spectrum and functional impact on GPI-anchored proteins 10
Exome sequencing efficacy and phenotypic expansions involving esophageal atresia/tracheoesophageal fistula plus 8
Italian SARS-CoV-2 patients in intensive care: Towards an identikit for subjects at risk? 8
SRSF1 haploinsufficiency is responsible for a syndromic developmental disorder associated with intellectual disability 7
Resources and tools for rare disease variant interpretation 6
A systems genomics approach identifies SIGLEC15 as a susceptibility factor in recurrent vulvovaginal candidiasis 6
Definition of the transcriptional units of inherited retinal disease genes by meta-analysis of human retinal transcriptome data 5
A MT-TL1 variant identified by whole exome sequencing in an individual with intellectual disability, epilepsy, and spastic tetraparesis 3
Totale 2.141
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Categoria #
all - tutte 10.460
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 10.460
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2019/2020117 0 0 0 0 8 8 1 1 17 22 40 20
2020/2021122 1 3 34 8 7 21 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
2024/2025338 88 110 13 33 94 0 0 0 0 0 0 0
Totale 2.141