IRIS
MARI, FRANCESCA
 Distribuzione geografica
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Continente #
NA - Nord America 17.342
EU - Europa 14.364
AS - Asia 7.536
SA - Sud America 1.299
AF - Africa 460
OC - Oceania 48
Continente sconosciuto - Info sul continente non disponibili 9
Totale 41.058
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Nazione #
US - Stati Uniti d'America 17.132
RU - Federazione Russa 2.927
GB - Regno Unito 2.558
CN - Cina 2.504
IT - Italia 2.413
SG - Singapore 2.245
IE - Irlanda 1.627
DE - Germania 1.166
BR - Brasile 1.067
VN - Vietnam 906
SE - Svezia 812
UA - Ucraina 765
FR - Francia 752
HK - Hong Kong 646
FI - Finlandia 545
KR - Corea 363
ZA - Sudafrica 248
NL - Olanda 219
IN - India 217
CA - Canada 114
TR - Turchia 113
ES - Italia 111
BD - Bangladesh 93
BE - Belgio 92
PL - Polonia 82
AR - Argentina 71
JP - Giappone 69
MX - Messico 65
IQ - Iraq 64
AT - Austria 62
NG - Nigeria 59
CZ - Repubblica Ceca 57
PK - Pakistan 42
EC - Ecuador 40
AU - Australia 38
ID - Indonesia 37
KE - Kenya 36
CI - Costa d'Avorio 34
SA - Arabia Saudita 32
CH - Svizzera 31
IR - Iran 31
CL - Cile 30
UZ - Uzbekistan 24
CO - Colombia 22
VE - Venezuela 21
PY - Paraguay 20
EG - Egitto 18
MA - Marocco 18
PH - Filippine 18
AE - Emirati Arabi Uniti 17
LT - Lituania 17
AZ - Azerbaigian 16
BG - Bulgaria 14
GR - Grecia 13
HU - Ungheria 13
PE - Perù 13
TN - Tunisia 12
IL - Israele 11
KZ - Kazakistan 10
MY - Malesia 10
DZ - Algeria 9
EU - Europa 9
RO - Romania 9
AL - Albania 8
JO - Giordania 8
LV - Lettonia 8
PA - Panama 8
PT - Portogallo 8
BY - Bielorussia 7
KG - Kirghizistan 7
SK - Slovacchia (Repubblica Slovacca) 7
SN - Senegal 7
UY - Uruguay 7
BO - Bolivia 6
DK - Danimarca 6
DO - Repubblica Dominicana 6
EE - Estonia 6
MK - Macedonia 6
NP - Nepal 6
NZ - Nuova Zelanda 6
AM - Armenia 5
AO - Angola 5
CY - Cipro 5
ET - Etiopia 5
LB - Libano 5
OM - Oman 5
BA - Bosnia-Erzegovina 4
BW - Botswana 4
HR - Croazia 4
NO - Norvegia 4
QA - Qatar 4
BB - Barbados 3
GE - Georgia 3
JM - Giamaica 3
MD - Moldavia 3
PS - Palestinian Territory 3
TT - Trinidad e Tobago 3
TW - Taiwan 3
BH - Bahrain 2
BN - Brunei Darussalam 2
Totale 41.021
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Città #
Dallas 2.787
Southend 2.176
Fairfield 1.658
Dublin 1.605
Ashburn 1.417
Singapore 1.317
Chandler 925
Woodbridge 835
Moscow 823
Seattle 708
Santa Clara 701
Houston 674
Beijing 626
Jacksonville 619
Hong Kong 613
Ann Arbor 593
Wilmington 587
Cambridge 579
Hefei 464
San Jose 461
Siena 424
Munich 411
Seoul 358
Helsinki 317
Los Angeles 292
Milan 290
Menlo Park 276
Ho Chi Minh City 270
Council Bluffs 259
Princeton 256
The Dalles 234
Johannesburg 223
New York 222
Nanjing 220
Hanoi 203
Lauterbourg 192
Florence 140
Boardman 122
São Paulo 115
Rome 114
San Diego 104
Shanghai 102
Buffalo 99
Dong Ket 84
Dearborn 80
Orem 76
San Mateo 73
London 69
Columbus 65
Nanchang 65
Chicago 62
Turku 62
Brussels 61
Warsaw 60
Frankfurt am Main 57
Lancaster 57
Abuja 56
Tokyo 56
Shenyang 54
Málaga 53
Izmir 51
Bengaluru 50
Nuremberg 50
Tianjin 46
Washington 44
Redondo Beach 43
Chennai 42
Hebei 41
Rio de Janeiro 41
Da Nang 40
Phoenix 40
Norwalk 39
Toronto 39
Brescia 38
Düsseldorf 36
Haiphong 35
Abidjan 34
Brno 34
Brooklyn 34
Stockholm 34
Changsha 31
Denver 31
Lappeenranta 31
Bologna 30
Jiaxing 30
Waanrode 30
Boston 29
Guangzhou 29
Montreal 29
Paris 29
Zhengzhou 29
Atlanta 28
Naples 28
Amsterdam 27
Kunming 27
San Francisco 27
Baghdad 25
Jinan 25
Aachen 23
Vienna 22
Totale 27.872
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Nome #
A first update on mapping the human genetic architecture of COVID-19 575
ACE2 gene variants may underlie interindividual variability and susceptibility to COVID-19 in the Italian population 574
A genome-wide association study for survival from a multi-centre European study identified variants associated with COVID-19 risk of death 505
Association of toll-like receptor 7 variants with life-threatening COVID-19 disease in males: Findings from a nested case-control study 499
MEIS2 gene is responsible for intellectual disability, cardiac defects and a distinct facial phenotype 454
Genetic mechanisms of critical illness in COVID-19 409
Exome sequencing analysis in a pair of monozygotic twins re-evaluates the genetics behind their intellectual disability and reveals a CHD2 mutation 407
iPSC-derived neurons profiling reveals GABAergic circuit disruption and acetylated α-tubulin defect which improves after iHDAC6 treatment in Rett syndrome 394
13q Deletion syndrome and retinoblastoma in identical dichorionic diamniotic monozygotic twins 393
The polymorphism L412F in TLR3 inhibits autophagy and is a marker of severe COVID-19 in males 387
Evidence of predisposing epimutation in retinoblastoma 378
An explainable model of host genetic interactions linked to COVID-19 severity 365
Coffin-Siris and Nicolaides-Baraitser syndromes are a common well recognizable cause of intellectual disability. 357
Common, low-frequency, rare, and ultra-rare coding variants contribute to COVID-19 severity 337
A comprehensive molecular study on Coffin-Siris and Nicolaides-Baraitser syndromes identifies a broad molecular and clinical spectrum converging on altered chromatin remodeling. 336
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 331
3.2 Mb microdeletion in chromosome 7 bands q22.2-q22.3 associated with overgrowth and delayed bone age 328
Next generation sequencing in sporadic retinoblastoma patients reveals somatic mosaicism 327
Array comparative genomic hybridization in retinoma and retinoblastoma tissues. 325
Pathogen-sugar interactions revealed by universal saturation transfer analysis 323
Combined ultrasound and exome sequencing approach recognizes Opitz G/BBB syndrome in two malformed fetuses 322
A 3 Mb deletion in 14q12 causes severe mental retardation, mild facial dysmorphisms and Rett-like features 320
null 320
A 9.3 Mb microdeletion of 3q27.3q29 associated with psychomotor and growth delay, tricuspid valve dysplasia and bifid thumb 312
9q31.1q31.3 deletion in two patients with similar clinical features: A newly recognized microdeletion syndrome? 311
Employing a systematic approach to biobanking and analyzing clinical and genetic data for advancing COVID-19 research 311
CDKL5 belongs to the same molecular pathway of MeCP2 and it is responsible for the early-onset seizure variant of Rett syndrome 309
Alport syndrome: impact of digenic inheritance in patients management 306
2q24-q31 deletion: report of a case and review of the literature 304
Revealing the complexity of a monogenic disease: rett syndrome exome sequencing 304
Evidence of digenic inheritance in Alport syndrome 301
Epilepsy in Rett syndrome - Lessons from the Rett networked database 300
Genomic differences between retinoma and retinoblastoma 299
Visual impairment in FOXG1-mutated individuals and mice 294
Interstitial 22q13 deletions not involving SHANK3 gene: A new contiguous gene syndrome 293
Rare variants in Toll-like receptor 7 results in functional impairment and downregulation of cytokine-mediated signaling in COVID-19 patients 292
Potentially treatable disorder diagnosed post Mortem by exome analysis in a boy with respiratory distress 289
Alport syndrome and leiomyomatosis: the first deletion extending beyond COL4A6 intron 2 288
Exome sequencing coupled with mRNA analysis identifies NDUFAF6 as a Leigh gene 283
A mutation in the rett syndrome gene, MECP2, causes X-linked mental retardation and progressive spasticity in males. 283
Shorter androgen receptor polyQ alleles protect against life-threatening COVID-19 disease in European males 283
COL4A3/COL4A4 mutations: from familial hematuria to autosomal-dominant or recessive Alport syndrome 280
Analysis of the Phenotypes in the Rett Networked Database 279
Advances and unmet needs in genetic, basic and clinical science in Alport syndrome: report from the 2015 International Workshop on Alport Syndrome 278
Ambiguous external genitalia due to defect of 5-α-reductase in seven Iraqi patients: Prevalence of a novel mutation 274
14q12 Microdeletion syndrome and congenital variant of Rett syndrome 273
Carriers of ADAMTS13 Rare Variants Are at High Risk of Life-Threatening COVID-19 272
SARS-CoV-2 susceptibility and COVID-19 disease severity are associated with genetic variants affecting gene expression in a variety of tissues 271
Germline mosaicism in Rett syndrome identified by prenatal diagnosis 271
Private inherited microdeletion/microduplications: implications in clinical practice 268
Redox imbalance and morphological changes in skin fibroblasts in typical Rett syndrome 266
CDKL5/STK9 is mutated in Rett syndrome variant with infantile spasms. 260
Advances in Alport syndrome diagnosis using next-generation sequencing 260
Creatine transporter defect diagnosed by proton NMR spectroscopy in males with intellectual disability. 259
Phenotype and genotype of 87 patients with Mowat-Wilson syndrome and recommendations for care 257
Delineation of the phenotype associated with 7q36.1q36.2 deletion: long QT syndrome, renal hypoplasia and mental retardation 255
A case of spastic paraplegia type 11 mimicking a GM2-gangliosidosis 254
Autosomal-dominant Alport syndrome: natural history of a disease due to COL4A3 or COL4A4 gene. 254
C9orf72 intermediate repeats confer genetic risk for severe covid-19 pneumonia independently of age 253
Personalized therapy in a GRIN1 mutated girl with intellectual disability and epilepsy 247
Expanding the phenotype of 22q11 deletion syndrome: the MURCS association 243
Mitochondrial abnormalities in genetically assessed oculopharyngeal muscular dystrophy 243
Gain- and Loss-of-Function CFTR Alleles Are Associated with COVID-19 Clinical Outcomes 242
Chromosome 2 deletion encompassing the MAP2 gene in a patient with autism and Rett-like features 237
A spectrum of LMX1B mutations in Nail-Patella syndrome: new point mutations, deletion, and evidence of mosaicism in unaffected parents 236
Rare variants in the genetic background modulate cognitive and developmental phenotypes in individuals carrying disease-associated variants 236
Triorchidism: genetic and imaging evaluation in an adult male 235
Severe COVID-19 in hospitalized carriers of single CFTR pathogenic variants 234
Non-collagen genes role in digenic Alport syndrome 233
Chromosomal contacts connect loci associated with autism, BMI and head circumference phenotypes 232
Investigation of modifier genes within copy number variations in Rett syndrome 231
Huntington's disease gene expansion associates with early onset nonprogressive chorea 229
RSK2 enzymatic assay as a second level diagnostic tool in Coffin-Lowry syndrome. 229
GluD1 is a common altered player in neuronal differentiation from both MECP2-mutated and CDKL5-mutated iPS cells 226
Retinoblastoma and mental retardation microdeletion syndrome: clinical characterization and molecular dissection using array CGH 225
Xq28 duplications including MECP2 in five females: Expanding the phenotype to severe mental retardation 222
A Unique Patient Presenting with Concomitant Klinefelter Syndrome, Alport Syndrome and Craniopharyngioma. 221
Expert consensus guidelines for the genetic diagnosis of Alport syndrome 221
Type-IV collagen related diseases 220
Overlapping microdeletions involving 15q22.2 narrow the critical region for intellectual disability to NARG2 and RORA 219
13q Deletion Syndrome Involving RB1: Characterization of a New Minimal Critical Region for Psychomotor Delay 217
Clinical and molecular characterization of Italian patients affected by Cohen syndrome 216
IQSEC2 disorder: A new disease entity or a Rett spectrum continuum? 216
Ultra-rare RTEL1 gene variants associate with acute severity of COVID-19 and evolution to pulmonary fibrosis as a specific long COVID disorder 213
Italian Rett database and biobank 211
Uncovering recessive likely pathogenic variants, using microdeletion sindrome with unusual phenotypes 211
iPS cells to model CDKL5-related disorders 208
WES profiling of COVID-19 204
Whole-genome sequencing reveals host factors underlying critical COVID-19 198
Mutational screening of the RB1 gene in Italian patients with retinoblastoma reveals 11 novel mutations. 198
The phenotype of floating-harbor syndrome: clinical characterization of 52 individuals with mutations in exon 34 of SRCAP. 196
Oligogenic germline mutations identified in early non-smokers lung adenocarcinoma patients 195
PAX6 mutation in a family with aniridia, congenital ptosis, and mental retardation 194
Rett syndrome: the complex nature of a monogenic disease 192
Mild brachydactyly type A1 maps to chromosome 2q35-q36 and is caused by a novel IHH mutation in a three generation family 191
Clinical and molecular characterization of COVID-19 hospitalized patients 191
Blepharophimosis, ptosis, and epicanthus inversus syndrome: clinical and molecular analysis of a case 190
Protective role of a TMPRSS2 variant on severe COVID-19 outcome in young males and elderly women 189
Epilepsy in Mowat-Wilson syndrome: Delineation of the electroclinical phenotype. 187
Expanding the phenotype associated with FOXG1 mutations and in vivo FoxG1 chromatin-binding dynamics 184
Totale 27.974
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Categoria #
all - tutte 125.293
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 125.293
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2020/2021982 0 0 0 0 0 0 0 0 0 438 310 234
2021/20222.415 192 323 117 212 112 71 133 102 112 245 265 531
2022/20233.461 204 318 393 433 346 652 192 291 313 100 126 93
2023/20242.913 124 95 319 189 120 726 859 92 47 83 84 175
2024/20256.349 189 300 635 377 773 415 369 411 483 299 613 1.485
2025/202614.459 1.070 2.292 2.160 1.837 2.761 609 1.770 563 633 764 0 0
Totale 41.633