IRIS
MARI, FRANCESCA
 Distribuzione geografica
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Continente #
NA - Nord America 17.905
EU - Europa 14.522
AS - Asia 7.793
SA - Sud America 1.299
AF - Africa 460
OC - Oceania 48
Continente sconosciuto - Info sul continente non disponibili 9
Totale 42.036
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Nazione #
US - Stati Uniti d'America 17.665
RU - Federazione Russa 2.927
GB - Regno Unito 2.562
IT - Italia 2.551
CN - Cina 2.534
SG - Singapore 2.280
IE - Irlanda 1.627
DE - Germania 1.166
BR - Brasile 1.067
VN - Vietnam 908
SE - Svezia 812
UA - Ucraina 765
FR - Francia 755
HK - Hong Kong 653
FI - Finlandia 545
KR - Corea 365
BD - Bangladesh 268
ZA - Sudafrica 248
NL - Olanda 228
IN - India 217
CA - Canada 132
TR - Turchia 113
ES - Italia 112
BE - Belgio 92
PL - Polonia 82
AR - Argentina 71
JP - Giappone 69
MX - Messico 66
IQ - Iraq 64
AT - Austria 63
NG - Nigeria 59
CZ - Repubblica Ceca 58
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 15
MY - Malesia 15
GR - Grecia 13
HU - Ungheria 13
PE - Perù 13
TN - Tunisia 12
IL - Israele 11
KZ - Kazakistan 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
NP - Nepal 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
NZ - Nuova Zelanda 6
AM - Armenia 5
AO - Angola 5
CY - Cipro 5
ET - Etiopia 5
JM - Giamaica 5
LB - Libano 5
OM - Oman 5
TT - Trinidad e Tobago 5
BA - Bosnia-Erzegovina 4
BB - Barbados 4
BW - Botswana 4
HR - Croazia 4
NO - Norvegia 4
PR - Porto Rico 4
QA - Qatar 4
CR - Costa Rica 3
GE - Georgia 3
HN - Honduras 3
MD - Moldavia 3
PS - Palestinian Territory 3
Totale 41.996
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Città #
Dallas 2.795
Southend 2.176
Fairfield 1.659
Dublin 1.605
Ashburn 1.451
Singapore 1.322
Chandler 926
Woodbridge 835
Moscow 823
Santa Clara 728
Seattle 708
Houston 677
San Jose 633
Beijing 629
Hong Kong 620
Jacksonville 619
Ann Arbor 593
Wilmington 588
Cambridge 579
Hefei 464
Siena 424
Munich 411
Seoul 358
Helsinki 317
Los Angeles 313
Milan 301
Menlo Park 276
Ho Chi Minh City 272
Council Bluffs 261
Princeton 256
New York 246
The Dalles 235
Johannesburg 223
Nanjing 220
Hanoi 203
Lauterbourg 192
Florence 140
Rome 129
Boardman 124
São Paulo 115
Buffalo 109
San Diego 104
Shanghai 102
Dong Ket 84
Dearborn 80
Orem 77
San Mateo 73
London 69
Chicago 68
Columbus 68
Nanchang 65
Turku 62
Brussels 61
Warsaw 60
Lancaster 58
Frankfurt am Main 57
Abuja 56
Tokyo 56
Shenyang 54
Málaga 53
Izmir 51
Bengaluru 50
Nuremberg 50
Tianjin 46
Toronto 45
Washington 45
Redondo Beach 43
Chennai 42
Phoenix 42
Hebei 41
Rio de Janeiro 41
Da Nang 40
Brescia 39
Norwalk 39
Bologna 37
Naples 37
Brooklyn 36
Düsseldorf 36
Haiphong 35
Abidjan 34
Brno 34
Stockholm 34
Changsha 32
Denver 32
Montreal 32
Lappeenranta 31
Boston 30
Jiaxing 30
Waanrode 30
Atlanta 29
Guangzhou 29
Paris 29
San Francisco 29
Zhengzhou 29
Amsterdam 27
Kunming 27
Baghdad 25
Jinan 25
Aachen 23
Vienna 22
Totale 28.270
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Nome #
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
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 356
Pathogen-sugar interactions revealed by universal saturation transfer analysis 354
A comprehensive molecular study on Coffin-Siris and Nicolaides-Baraitser syndromes identifies a broad molecular and clinical spectrum converging on altered chromatin remodeling. 340
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
null 320
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
Interstitial 22q13 deletions not involving SHANK3 gene: A new contiguous gene syndrome 298
COL4A3/COL4A4 mutations: from familial hematuria to autosomal-dominant or recessive Alport syndrome 296
SARS-CoV-2 susceptibility and COVID-19 disease severity are associated with genetic variants affecting gene expression in a variety of tissues 294
Visual impairment in FOXG1-mutated individuals and mice 294
Alport syndrome and leiomyomatosis: the first deletion extending beyond COL4A6 intron 2 292
Carriers of ADAMTS13 Rare Variants Are at High Risk of Life-Threatening COVID-19 290
Potentially treatable disorder diagnosed post Mortem by exome analysis in a boy with respiratory distress 290
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
Analysis of the Phenotypes in the Rett Networked Database 284
Advances and unmet needs in genetic, basic and clinical science in Alport syndrome: report from the 2015 International Workshop on Alport Syndrome 280
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
14q12 Microdeletion syndrome and congenital variant of Rett syndrome 274
Private inherited microdeletion/microduplications: implications in clinical practice 273
Redox imbalance and morphological changes in skin fibroblasts in typical Rett syndrome 272
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
GluD1 is a common altered player in neuronal differentiation from both MECP2-mutated and CDKL5-mutated iPS cells 250
Personalized therapy in a GRIN1 mutated girl with intellectual disability and epilepsy 248
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
Mitochondrial abnormalities in genetically assessed oculopharyngeal muscular dystrophy 243
Triorchidism: genetic and imaging evaluation in an adult male 240
Rare variants in the genetic background modulate cognitive and developmental phenotypes in individuals carrying disease-associated variants 239
A spectrum of LMX1B mutations in Nail-Patella syndrome: new point mutations, deletion, and evidence of mosaicism in unaffected parents 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
Chromosomal contacts connect loci associated with autism, BMI and head circumference phenotypes 234
Investigation of modifier genes within copy number variations in Rett syndrome 233
Expert consensus guidelines for the genetic diagnosis of Alport syndrome 233
Xq28 duplications including MECP2 in five females: Expanding the phenotype to severe mental retardation 232
RSK2 enzymatic assay as a second level diagnostic tool in Coffin-Lowry syndrome. 232
Huntington's disease gene expansion associates with early onset nonprogressive chorea 231
13q Deletion Syndrome Involving RB1: Characterization of a New Minimal Critical Region for Psychomotor Delay 229
Retinoblastoma and mental retardation microdeletion syndrome: clinical characterization and molecular dissection using array CGH 228
A Unique Patient Presenting with Concomitant Klinefelter Syndrome, Alport Syndrome and Craniopharyngioma. 224
Type-IV collagen related diseases 221
Overlapping microdeletions involving 15q22.2 narrow the critical region for intellectual disability to NARG2 and RORA 221
IQSEC2 disorder: A new disease entity or a Rett spectrum continuum? 220
Clinical and molecular characterization of Italian patients affected by Cohen syndrome 217
Italian Rett database and biobank 215
Ultra-rare RTEL1 gene variants associate with acute severity of COVID-19 and evolution to pulmonary fibrosis as a specific long COVID disorder 214
Uncovering recessive likely pathogenic variants, using microdeletion sindrome with unusual phenotypes 214
iPS cells to model CDKL5-related disorders 210
Epilepsy in Mowat-Wilson syndrome: Delineation of the electroclinical phenotype. 210
Refinement of the 12q14 microdeletion syndrome: primordial dwarfism and developmental delay with or without osteopoikilosis. 207
WES profiling of COVID-19 205
Whole-genome sequencing reveals host factors underlying critical COVID-19 201
Mutational screening of the RB1 gene in Italian patients with retinoblastoma reveals 11 novel mutations. 201
Oligogenic germline mutations identified in early non-smokers lung adenocarcinoma patients 198
PAX6 mutation in a family with aniridia, congenital ptosis, and mental retardation 197
Autosomal recessive Alport syndrome: an in-depth clinical and molecular analysis of five families 197
The phenotype of floating-harbor syndrome: clinical characterization of 52 individuals with mutations in exon 34 of SRCAP. 197
Rett syndrome: the complex nature of a monogenic disease 195
Clinical and molecular characterization of COVID-19 hospitalized patients 194
Blepharophimosis, ptosis, and epicanthus inversus syndrome: clinical and molecular analysis of a case 193
Mild brachydactyly type A1 maps to chromosome 2q35-q36 and is caused by a novel IHH mutation in a three generation family 192
Totale 28.538
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Categoria #
all - tutte 130.305
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 130.305
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2020/2021234 0 0 0 0 0 0 0 0 0 0 0 234
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
2025/202615.439 1.070 2.292 2.160 1.837 2.761 609 1.770 563 633 827 558 359
Totale 42.613