IRIS
RENIERI, ALESSANDRA
 Distribuzione geografica
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Continente #
NA - Nord America 35.259
EU - Europa 28.494
AS - Asia 17.083
SA - Sud America 2.960
AF - Africa 1.016
OC - Oceania 118
Continente sconosciuto - Info sul continente non disponibili 23
AN - Antartide 1
Totale 84.954
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Nazione #
US - Stati Uniti d'America 34.672
RU - Federazione Russa 5.868
CN - Cina 5.498
GB - Regno Unito 5.294
SG - Singapore 4.966
IT - Italia 4.730
IE - Irlanda 3.313
BR - Brasile 2.437
VN - Vietnam 2.108
DE - Germania 1.951
UA - Ucraina 1.652
SE - Svezia 1.633
FR - Francia 1.586
HK - Hong Kong 1.481
FI - Finlandia 996
KR - Corea 870
ZA - Sudafrica 565
IN - India 484
BD - Bangladesh 478
NL - Olanda 364
CA - Canada 310
TR - Turchia 221
ES - Italia 212
AR - Argentina 170
JP - Giappone 159
MX - Messico 159
BE - Belgio 157
PL - Polonia 156
IQ - Iraq 135
AT - Austria 128
NG - Nigeria 115
CZ - Repubblica Ceca 110
AU - Australia 102
EC - Ecuador 92
PK - Pakistan 86
ID - Indonesia 70
SA - Arabia Saudita 70
CI - Costa d'Avorio 68
KE - Kenya 65
IR - Iran 57
MA - Marocco 56
UZ - Uzbekistan 56
CL - Cile 55
CO - Colombia 55
CH - Svizzera 54
VE - Venezuela 49
EG - Egitto 43
AE - Emirati Arabi Uniti 40
LT - Lituania 39
PY - Paraguay 38
AZ - Azerbaigian 32
PH - Filippine 30
GR - Grecia 27
PE - Perù 27
TN - Tunisia 26
RO - Romania 25
BG - Bulgaria 23
IL - Israele 23
JO - Giordania 23
MY - Malesia 23
KZ - Kazakistan 22
NP - Nepal 21
UY - Uruguay 20
DK - Danimarca 19
DZ - Algeria 19
EU - Europa 19
AL - Albania 18
HU - Ungheria 18
PA - Panama 18
DO - Repubblica Dominicana 16
PT - Portogallo 16
OM - Oman 15
TT - Trinidad e Tobago 14
BO - Bolivia 13
CR - Costa Rica 13
HN - Honduras 13
SN - Senegal 13
ET - Etiopia 12
HR - Croazia 12
KG - Kirghizistan 12
LB - Libano 12
JM - Giamaica 11
NO - Norvegia 11
SK - Slovacchia (Repubblica Slovacca) 11
LV - Lettonia 10
NZ - Nuova Zelanda 10
TW - Taiwan 10
LK - Sri Lanka 9
RS - Serbia 9
LU - Lussemburgo 8
AO - Angola 7
BY - Bielorussia 7
CY - Cipro 7
EE - Estonia 7
GT - Guatemala 7
MD - Moldavia 7
MK - Macedonia 7
PS - Palestinian Territory 7
AM - Armenia 6
BA - Bosnia-Erzegovina 6
Totale 84.824
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Città #
Dallas 4.921
Southend 4.456
Fairfield 3.270
Dublin 3.263
Singapore 2.908
Ashburn 2.630
Chandler 1.987
Santa Clara 1.621
Moscow 1.612
Woodbridge 1.561
Hong Kong 1.407
Seattle 1.323
Jacksonville 1.291
Houston 1.271
Beijing 1.258
San Jose 1.228
Wilmington 1.216
Hefei 1.180
Cambridge 1.086
Ann Arbor 1.046
Seoul 857
Siena 812
Ho Chi Minh City 644
Los Angeles 631
The Dalles 580
Milan 565
Princeton 555
Munich 542
Helsinki 536
Council Bluffs 528
Johannesburg 512
Menlo Park 489
New York 475
Hanoi 474
Lauterbourg 450
Nanjing 446
Boardman 246
Rome 242
Buffalo 226
San Mateo 223
São Paulo 223
Florence 212
San Diego 205
Dong Ket 200
Shanghai 186
Nanchang 150
Bengaluru 148
London 146
Orem 145
Chicago 140
Dearborn 129
Tokyo 123
Redondo Beach 113
Shenyang 113
Columbus 111
Nuremberg 110
Warsaw 110
Abuja 109
Tianjin 108
Brussels 103
Frankfurt am Main 102
Turku 100
Da Nang 98
Toronto 98
Málaga 90
Izmir 89
Phoenix 88
Düsseldorf 87
Chennai 86
Lancaster 86
Lappeenranta 84
Montreal 82
Haiphong 81
Rio de Janeiro 81
Hebei 78
Washington 78
Norwalk 76
Changsha 73
Naples 72
Brooklyn 71
Denver 71
Guangzhou 70
San Francisco 70
Brno 69
Abidjan 68
Bologna 68
Jiaxing 67
Stockholm 67
Amsterdam 62
Atlanta 62
Boston 62
Brescia 61
Zhengzhou 61
Jinan 58
Kunming 57
Vienna 57
Manchester 52
Tashkent 52
Belo Horizonte 49
Mexico City 49
Totale 56.384
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Nome #
VEXAS syndrome: a new paradigm for adult-onset monogenic autoinflammatory diseases 887
A first update on mapping the human genetic architecture of COVID-19 582
ACE2 gene variants may underlie interindividual variability and susceptibility to COVID-19 in the Italian population 577
A genome-wide association study for survival from a multi-centre European study identified variants associated with COVID-19 risk of death 515
Association of toll-like receptor 7 variants with life-threatening COVID-19 disease in males: Findings from a nested case-control study 504
MEIS2 gene is responsible for intellectual disability, cardiac defects and a distinct facial phenotype 460
Genetic mechanisms of critical illness in COVID-19 430
Rates, distribution and implications of postzygotic mosaic mutations in autism spectrum disorder 426
The polymorphism L412F in TLR3 inhibits autophagy and is a marker of severe COVID-19 in males 418
Exome sequencing analysis in a pair of monozygotic twins re-evaluates the genetics behind their intellectual disability and reveals a CHD2 mutation 408
13q Deletion syndrome and retinoblastoma in identical dichorionic diamniotic monozygotic twins 398
iPSC-derived neurons profiling reveals GABAergic circuit disruption and acetylated α-tubulin defect which improves after iHDAC6 treatment in Rett syndrome 395
Evidence of predisposing epimutation in retinoblastoma 382
Coffin-Siris and Nicolaides-Baraitser syndromes are a common well recognizable cause of intellectual disability. 381
An explainable model of host genetic interactions linked to COVID-19 severity 371
Common, low-frequency, rare, and ultra-rare coding variants contribute to COVID-19 severity 354
Pathogen-sugar interactions revealed by universal saturation transfer analysis 354
Omic Approach in Non-Smoker Female with Lung Squamous Cell Carcinoma Pinpoints to Germline Susceptibility and Personalized Medicine 346
Usefulness and limitations of comprehensive characterization of mRNA splicing profiles in the definition of the clinical relevance of BRCA1/2 variants of uncertain significance 345
A comprehensive molecular study on Coffin-Siris and Nicolaides-Baraitser syndromes identifies a broad molecular and clinical spectrum converging on altered chromatin remodeling. 340
Epigenetic and copy number variation analysis in retinoblastoma by MS-MLPA. 333
A 2.6 Mb deletion of 6q24.3-25.1 in a patient with growth failure, cardiac septal defect, thin upperlip and asymmetric dysmorphic ears 332
3.2 Mb microdeletion in chromosome 7 bands q22.2-q22.3 associated with overgrowth and delayed bone age 331
Next generation sequencing in sporadic retinoblastoma patients reveals somatic mosaicism 330
Array comparative genomic hybridization in retinoma and retinoblastoma tissues. 327
A 3 Mb deletion in 14q12 causes severe mental retardation, mild facial dysmorphisms and Rett-like features 325
Combined ultrasound and exome sequencing approach recognizes Opitz G/BBB syndrome in two malformed fetuses 324
A new mutation in DNM2 gene in a large Italian family 324
null 320
Clonality analysis of immunoglobulin gene rearrangement by next-generation sequencing in endemic burkitt lymphoma suggests antigen drive activation of bcr as opposed to sporadic burkitt lymphoma 318
Alteration of serum lipid profile, SRB1 loss, and impaired Nrf2 activation in CDKL5 disorder 317
9q31.1q31.3 deletion in two patients with similar clinical features: A newly recognized microdeletion syndrome? 314
Employing a systematic approach to biobanking and analyzing clinical and genetic data for advancing COVID-19 research 314
A 9.3 Mb microdeletion of 3q27.3q29 associated with psychomotor and growth delay, tricuspid valve dysplasia and bifid thumb 313
Alport syndrome: impact of digenic inheritance in patients management 312
CDKL5 belongs to the same molecular pathway of MeCP2 and it is responsible for the early-onset seizure variant of Rett syndrome 311
Epilepsy in Rett syndrome - Lessons from the Rett networked database 308
2q24-q31 deletion: report of a case and review of the literature 306
Revealing the complexity of a monogenic disease: rett syndrome exome sequencing 306
Genomic differences between retinoma and retinoblastoma 304
Evidence of digenic inheritance in Alport syndrome 303
Rare variants in Toll-like receptor 7 results in functional impairment and downregulation of cytokine-mediated signaling in COVID-19 patients 302
A 600 kb deletion syndrome at 16p11.2 leads to energy imbalance and neuropsychiatric disorders 300
Interstitial 22q13 deletions not involving SHANK3 gene: A new contiguous gene syndrome 298
SARS-CoV-2 susceptibility and COVID-19 disease severity are associated with genetic variants affecting gene expression in a variety of tissues 294
COL4A3/COL4A4 mutations: from familial hematuria to autosomal-dominant or recessive Alport syndrome 294
Visual impairment in FOXG1-mutated individuals and mice 294
Alport syndrome and leiomyomatosis: the first deletion extending beyond COL4A6 intron 2 292
Potentially treatable disorder diagnosed post Mortem by exome analysis in a boy with respiratory distress 290
Carriers of ADAMTS13 Rare Variants Are at High Risk of Life-Threatening COVID-19 289
Frequency of OPA1 and OPTN gene variations in 18 patients with normal tension glaucoma 289
Novel TMEM67 mutations and genotype-phenotype correlates in meckelin-related ciliopathies. 286
A mutation in the rett syndrome gene, MECP2, causes X-linked mental retardation and progressive spasticity in males. 286
Exome sequencing coupled with mRNA analysis identifies NDUFAF6 as a Leigh gene 285
Shorter androgen receptor polyQ alleles protect against life-threatening COVID-19 disease in European males 285
Low-level TP53 mutational load antecedes clonal expansion in chronic lymphocytic leukaemia 284
Analysis of the Phenotypes in the Rett Networked Database 284
16p11.2 600 kb Duplications confer risk for typical and atypical Rolandic epilepsy 283
First identification of a triple corneal dystrophy association: keratoconus, epithelial basement membrane corneal dystrophy and fuchs' endothelial corneal dystrophy 280
Advances and unmet needs in genetic, basic and clinical science in Alport syndrome: report from the 2015 International Workshop on Alport Syndrome 280
Multiple endocrine neoplasia type 2 syndromes may be associated with renal malformations 279
Germline mosaicism in Rett syndrome identified by prenatal diagnosis 278
Ambiguous external genitalia due to defect of 5-α-reductase in seven Iraqi patients: Prevalence of a novel mutation 276
X-Linked Alport Syndrome: Natural History and Genotype-Phenotype Correlations in Girls and Women Belonging to 195 Families: A "European Community Alport Syndrome Concerted Action" study 274
14q12 Microdeletion syndrome and congenital variant of Rett syndrome 274
Imbalance of excitatory/inhibitory synaptic protein expression in iPSC-derived neurons from FOXG1+/- patients and in foxg1+/- mice 273
Private inherited microdeletion/microduplications: implications in clinical practice 273
Redox imbalance and morphological changes in skin fibroblasts in typical Rett syndrome 272
Association in the same patient of autosomal dominant progressive external ophthalmoplegia with multiple mtDNA deletions and X-linked ichthyosis: clinical, biochemical, histological, submicroscopic and molecular genetic study 271
Creatine transporter defect diagnosed by proton NMR spectroscopy in males with intellectual disability. 265
Phenotype and genotype of 87 patients with Mowat-Wilson syndrome and recommendations for care 264
CDKL5/STK9 is mutated in Rett syndrome variant with infantile spasms. 263
Advances in Alport syndrome diagnosis using next-generation sequencing 263
Delineation of the phenotype associated with 7q36.1q36.2 deletion: long QT syndrome, renal hypoplasia and mental retardation 258
C9orf72 intermediate repeats confer genetic risk for severe covid-19 pneumonia independently of age 258
Autosomal-dominant Alport syndrome: natural history of a disease due to COL4A3 or COL4A4 gene. 256
A case of spastic paraplegia type 11 mimicking a GM2-gangliosidosis 255
Inherited human IRAK-1 deficiency selectively impairs TLR signaling in fibroblasts 255
Two-point-NGS analysis of cancer genes in cell-free DNA of metastatic cancer patients 255
ANALYSIS OF THE HYPOXIA-RESPONSE ELEMENT OF THE VASCULAR ENDOTHELIAL GROWTH FACTOR PROMOTER IN SPORADIC ALS PATIENTS 251
AAV-mediated FOXG1 gene editing in human Rett primary cells 251
GluD1 is a common altered player in neuronal differentiation from both MECP2-mutated and CDKL5-mutated iPS cells 250
Parent-of-origin effect of hypomorphic pathogenic variants and somatic mosaicism impact on phenotypic expression of retinoblastoma 250
The alliance between genetic biobanks and patient organisations: the experience of the telethon network of genetic biobanks 249
Commentary: Potential links between hepadnavirus and bornavirus sequences in the host genome and cancer 249
Personalized therapy in a GRIN1 mutated girl with intellectual disability and epilepsy 248
A novel OPA1 mutation resulting in atypical dominant optic atrophy with NTG “Like” phenotype. 247
Gain- and Loss-of-Function CFTR Alleles Are Associated with COVID-19 Clinical Outcomes 247
Expanding the phenotype of 22q11 deletion syndrome: the MURCS association 246
The role of surgical lung biopsy in the management of interstitial lung disease: experience from a single institution in the UK 245
FANCM c.5791C>T nonsense mutation (rs144567652) induces exon skipping, affects DNA repair activity and is a familial breast cancer risk factor 244
Mitochondrial abnormalities in genetically assessed oculopharyngeal muscular dystrophy 243
Rare variants in the genetic background modulate cognitive and developmental phenotypes in individuals carrying disease-associated variants 239
Dropped-head in recessive oculopharyngeal muscular dystrophy 238
Chromosome 2 deletion encompassing the MAP2 gene in a patient with autism and Rett-like features 237
Severe COVID-19 in hospitalized carriers of single CFTR pathogenic variants 237
Non-collagen genes role in digenic Alport syndrome 236
High rate of HDR in gene editing of p.(Thr158Met) MECP2 mutational hotspot 235
Chromosomal contacts connect loci associated with autism, BMI and head circumference phenotypes 234
X-linked Alport syndrome: an SSCP-based mutation survey over all 51 exons of the COL4A5 gene 234
Totale 31.212
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Categoria #
all - tutte 266.286
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 266.286
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2020/2021529 0 0 0 0 0 0 0 0 0 0 0 529
2021/20224.908 436 573 362 388 220 151 227 198 225 542 501 1.085
2022/20237.094 433 610 822 895 683 1.387 298 614 698 170 292 192
2023/20245.618 240 172 579 333 260 1.410 1.689 175 70 160 141 389
2024/202513.407 397 591 1.206 828 1.757 807 605 825 1.017 628 1.358 3.388
2025/202631.553 2.427 4.773 3.919 3.728 5.695 1.226 3.860 1.203 1.252 1.778 1.041 651
Totale 86.221