IRIS
PINELLI, MICHELE
 Distribuzione geografica
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Continente #
NA - Nord America 977
EU - Europa 401
AS - Asia 165
AF - Africa 19
Totale 1.562
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Nazione #
US - Stati Uniti d'America 961
IT - Italia 144
CN - Cina 114
NL - Olanda 75
DE - Germania 69
IE - Irlanda 36
FI - Finlandia 31
IN - India 28
CI - Costa d'Avorio 19
CA - Canada 15
SE - Svezia 13
UA - Ucraina 13
VN - Vietnam 12
GB - Regno Unito 8
FR - Francia 3
GR - Grecia 3
PL - Polonia 3
HK - Hong Kong 2
IL - Israele 2
IR - Iran 2
RO - Romania 2
SG - Singapore 2
CH - Svizzera 1
JP - Giappone 1
MX - Messico 1
SA - Arabia Saudita 1
TR - Turchia 1
Totale 1.562
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Città #
Chandler 229
Ashburn 87
Amsterdam 74
Millbury 50
Beijing 48
Boston 39
Nanjing 36
Princeton 32
Napoli 28
Des Moines 27
Naples 27
Lawrence 26
Wilmington 25
Pune 22
Jacksonville 19
Ottawa 14
Seattle 14
Dong Ket 12
Houston 8
Nanchang 8
Falls Church 7
Washington 7
Hebei 6
Redwood City 6
Jiaxing 5
Kronberg 5
Norwalk 5
Woodbridge 5
Boardman 4
Dublin 4
Rome 4
West Jordan 4
Casoria 3
Corbara 3
Duncan 3
Krakow 3
Lappeenranta 3
Mountain View 3
New York 3
Pomezia 3
Shenyang 3
Tianjin 3
Ardabil 2
Ariano Irpino 2
Bologna 2
Covington 2
Ferrara 2
Hong Kong 2
Indiana 2
Milan 2
Pannarano 2
Porcari 2
San Francisco 2
Tel Aviv 2
Wuhan 2
Aix-en-provence 1
Augusta 1
Cambridge 1
Campobasso 1
Capannori 1
Cormeilles-en-Parisis 1
Dallas 1
Dearborn 1
Edison 1
Ercolano 1
Formia 1
Frattaminore 1
Genoa 1
Gurgaon 1
Göttingen 1
Hangzhou 1
Helsinki 1
Horia 1
Kagoya 1
Lake Forest 1
London 1
Mumbai 1
New Delhi 1
Novara 1
Piraeus 1
Salerno 1
San Nicola 1
San Prisco 1
Seregno 1
Shenzhen 1
Shihu 1
Singapore 1
Trieste 1
Tübingen 1
Utrecht 1
Zurich 1
Totale 979
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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). 57
Adiponectin gene polymorphism and metabolic syndrome 52
An Interactive Tool for Data Visualization and Clustering 51
Recombinant human erythropoietin increasesfrataxin protein expression without increasing mRNA expression 49
Diabete Tipo 1, Tipo 2 e Tipo X 47
PPAR-gamma Agonist Azelaoyl PAF Increases Frataxin Protein and mRNA Expression. New Implications for the Friedreich's Ataxia Therapy 46
Beta2-adrenergic receptor and UCP3 variants modulate the relationship between age and type 2 diabetes mellitus 43
Pro12Ala polymorphism of the PPARgamma2 locus modulates the relationship between energy intake and body weight in type 2 diabetic patients 41
Uncoupling protein 2 G(-866)A polymorphism: a new gene polymorphism associated with C-reactive protein in type 2 diabetic patients. 41
A small 7q11.23 microduplication involving GTF2I in a family with intellectual disability 41
Improving the Estimation of Celiac Disease Sibling Risk by Non-HLA Genes. 40
Il Diabete Mitocondriale: se lo cerchi lo trovi. 37
An atlas of gene expression and gene co-regulation in the human retina 36
The PPARγ2 Pro12Ala variant is protective against progression of nephropathy in people with type 2 diabetes 35
A novel approach to simulate gene-environment interactions in complex diseases 34
Identifying Fabry patients in dialysis population: prevalence of GLA mutations by renal clinic screening, 1995–2019 34
Clustering, Assessment and Validation: an application to gene expression data 32
VarGenius executes cohort-level DNA-seq variant calling and annotation and allows to manage the resulting data through a PostgreSQL database 32
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) 31
DNA methylation in intron 1 of the frataxin gene is related to GAA repeat length and age of onset in Friedreich's ataxia patients. 30
Simulating gene-gene and gene-environment interactions in complex diseases: Gene-Environment iNteraction Simulator 2 30
The combination of UCP3-55CT and PPARγ2Pro12Ala polymorphisms affects BMI and substrate oxidation in two diabetic populations 30
Intrafamilial variability in SPTAN1-related disorder: From benign convulsions with mild gastroenteritis to developmental encephalopathy 30
Seven items flowchart (7-iF) for the clinical indication to GCK genetic test 29
Identification of C12orf4 as a gene for autosomal recessive intellectual disability 28
Paralog Studies Augment Gene Discovery: DDX and DHX Genes 28
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. 27
Absence of association between Pro12Ala polymorphism of the PPARy2 gene and diabetes 27
Pain and sleep disturbances in Rett syndrome and other neurodevelopmental disorders 27
Milder presentation of TELO2-related syndrome in two sisters homozygous for the p.Arg609His pathogenic variant 27
Bi-allelic variants in SPATA5L1 lead to intellectual disability, spastic-dystonic cerebral palsy, epilepsy, and hearing loss 27
Three de novo DDX3X variants associated with distinctive brain developmental abnormalities and brain tumor in intellectually disabled females. 26
Consolidating the Role of TDP2 Mutations in Recessive Spinocerebellar Ataxia Associated with Pediatric Onset Drug Resistant Epilepsy and Intellectual Disability (SCAR23) 26
The energy intake modulates the association of the 55CT polymorphism of UCP3 with body weight in type 2 diabetic patients 25
A child with Myhre syndrome presenting with corectopia and tetralogy of Fallot 25
Genome-wide scan for signatures of human population differentiation and their relationship with natural selection, functional pathways and diseases. 24
Schizophrenia and Vitamin D Related Genes Could Have Been Subject to Latitude-driven Adaptation. 24
Can telomere shortening in human peripheral blood leukocytes serve as a disease biomarker of Friedreich's ataxia? 24
An extremely severe phenotype attributed to WDR81 nonsense mutations 23
Biochemical phenotyping unravels novel metabolic abnormalities and potential biomarkers associated with treatment of GLUT1 deficiency with ketogenic diet 23
Expansion of the phenotype of lateral meningocele syndrome 22
Biallelic variants in CENPF causing a phenotype distinct from Strømme syndrome 21
Aldo-keto reductase 1c1 (Akr1c1) as the first mutated gene in a family with nonsyndromic primary lipedema 21
Interactive data analysis and clustering of genomic data. 18
An Alu-mediated duplication in NMNAT1, involved in NAD biosynthesis, causes a novel syndrome, SHILCA, affecting multiple tissues and organs 18
Solving patients with rare diseases through programmatic reanalysis of genome-phenome data 18
Broad phenotypic spectrum and genotype-phenotype correlations in GMPPB-related dystroglycanopathies: An Italian cross-sectional study 17
Global metabolomic profiling unravels metabolite perturbations in Rett syndrome 17
High-resolution analysis of the human retina miRNome reveals isomiR variations and novel microRNAs 16
Solve-RD: systematic pan-European data sharing and collaborative analysis to solve rare diseases 16
Gait disturbance and lower limb pain in a patient with PIK3CA-related disorder 15
Expanding the phenotype of DST-related disorder: A case report suggesting a genotype/phenotype correlation 14
Sinus pericranii, skull defects, and structural brain anomalies in TRAF7-related disorder 14
De Novo Heterozygous POLR2A Variants Cause a Neurodevelopmental Syndrome with Profound Infantile-Onset Hypotonia 12
Retinal dystrophy in an individual carrying a de novo missense variant of SMARCA4 11
Sphingolipid metabolism perturbations in rett syndrome 10
De novo SMARCA2 variants clustered outside the helicase domain cause a new recognizable syndrome with intellectual disability and blepharophimosis distinct from Nicolaides–Baraitser syndrome 10
Rare EIF4A2 variants are associated with a neurodevelopmental disorder characterized by intellectual disability, hypotonia, and epilepsy 9
Dissecting genetics of spectrum of epilepsies with eyelid myoclonia by exome sequencing 8
Variant-specific changes in RAC3 function disrupt corticogenesis in neurodevelopmental phenotypes 6
Exome sequencing efficacy and phenotypic expansions involving esophageal atresia/tracheoesophageal fistula plus 6
Italian SARS-CoV-2 patients in intensive care: Towards an identikit for subjects at risk? 6
Postnatal microcephaly and retinal involvement expand the phenotype of RPL10-related disorder 6
Epileptic encephalopathy caused by ARV1 deficiency: Refinement of the genotype–phenotype spectrum and functional impact on GPI-anchored proteins 5
Resources and tools for rare disease variant interpretation 4
SRSF1 haploinsufficiency is responsible for a syndromic developmental disorder associated with intellectual disability 2
Definition of the transcriptional units of inherited retinal disease genes by meta-analysis of human retinal transcriptome data 1
Totale 1.662
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Categoria #
all - tutte 6.776
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 6.776
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2018/201910 0 0 0 0 0 0 0 0 0 6 2 2
2019/2020176 46 7 4 2 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
2023/2024308 17 54 36 26 26 61 12 60 7 9 0 0
Totale 1.662