IRIS
MARI, FRANCESCA
 Distribuzione geografica
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Continente #
NA - Nord America 15.999
EU - Europa 13.651
AS - Asia 5.952
SA - Sud America 1.113
AF - Africa 139
OC - Oceania 32
Continente sconosciuto - Info sul continente non disponibili 9
Totale 36.895
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Nazione #
US - Stati Uniti d'America 15.840
RU - Federazione Russa 2.920
GB - Regno Unito 2.514
CN - Cina 2.286
IT - Italia 2.199
SG - Singapore 1.875
IE - Irlanda 1.621
DE - Germania 1.127
BR - Brasile 955
SE - Svezia 809
UA - Ucraina 756
FR - Francia 534
HK - Hong Kong 514
FI - Finlandia 483
KR - Corea 360
VN - Vietnam 332
NL - Olanda 185
IN - India 142
TR - Turchia 100
ES - Italia 98
BE - Belgio 92
CA - Canada 87
PL - Polonia 68
AT - Austria 57
AR - Argentina 56
CZ - Repubblica Ceca 56
BD - Bangladesh 52
JP - Giappone 51
MX - Messico 48
ZA - Sudafrica 47
CI - Costa d'Avorio 33
IQ - Iraq 30
EC - Ecuador 29
IR - Iran 29
PK - Pakistan 28
ID - Indonesia 24
AU - Australia 23
CH - Svizzera 20
CL - Cile 18
SA - Arabia Saudita 17
LT - Lituania 15
AE - Emirati Arabi Uniti 14
AZ - Azerbaigian 14
BG - Bulgaria 14
MA - Marocco 13
PY - Paraguay 13
UZ - Uzbekistan 13
CO - Colombia 12
KE - Kenya 12
PE - Perù 12
VE - Venezuela 11
EU - Europa 9
GR - Grecia 9
HU - Ungheria 9
IL - Israele 9
PH - Filippine 8
KZ - Kazakistan 7
LV - Lettonia 7
BY - Bielorussia 6
EE - Estonia 6
EG - Egitto 6
NZ - Nuova Zelanda 6
PT - Portogallo 6
AL - Albania 5
DK - Danimarca 5
DO - Repubblica Dominicana 5
DZ - Algeria 5
KG - Kirghizistan 5
MK - Macedonia 5
PA - Panama 5
UY - Uruguay 5
AM - Armenia 4
BA - Bosnia-Erzegovina 4
CY - Cipro 4
ET - Etiopia 4
HR - Croazia 4
RO - Romania 4
SN - Senegal 4
TN - Tunisia 4
AO - Angola 3
LB - Libano 3
MY - Malesia 3
NO - Norvegia 3
NP - Nepal 3
OM - Oman 3
QA - Qatar 3
SK - Slovacchia (Repubblica Slovacca) 3
TT - Trinidad e Tobago 3
TW - Taiwan 3
BN - Brunei Darussalam 2
BW - Botswana 2
GE - Georgia 2
HN - Honduras 2
JM - Giamaica 2
JO - Giordania 2
LK - Sri Lanka 2
LU - Lussemburgo 2
NG - Nigeria 2
NR - Nauru 2
BB - Barbados 1
Totale 36.869
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Città #
Dallas 2.771
Southend 2.176
Fairfield 1.658
Dublin 1.601
Ashburn 1.306
Singapore 1.119
Chandler 925
Woodbridge 835
Moscow 822
Seattle 704
Santa Clara 688
Houston 670
Jacksonville 617
Beijing 614
Ann Arbor 593
Wilmington 587
Cambridge 579
Hong Kong 510
Siena 424
Munich 411
Hefei 385
Seoul 356
Menlo Park 276
Helsinki 258
Princeton 256
Milan 253
Nanjing 220
Los Angeles 210
New York 195
Florence 139
Boardman 122
Rome 104
São Paulo 103
San Diego 101
Ho Chi Minh City 94
Shanghai 94
The Dalles 94
Buffalo 93
Dong Ket 84
Dearborn 80
Council Bluffs 78
San Mateo 73
Columbus 65
Nanchang 64
Turku 62
Brussels 61
London 59
Lancaster 57
Shenyang 54
Málaga 53
Chicago 52
Hanoi 51
Bengaluru 50
Izmir 50
Nuremberg 50
Warsaw 50
Tianjin 46
Redondo Beach 43
Tokyo 43
Washington 43
Hebei 41
Norwalk 39
Brescia 38
Düsseldorf 36
Phoenix 35
Brno 34
Rio de Janeiro 34
Abidjan 33
Brooklyn 32
Stockholm 32
Changsha 31
Toronto 31
Frankfurt am Main 30
Jiaxing 30
Waanrode 30
Zhengzhou 29
Denver 28
Lappeenranta 28
Bologna 27
Kunming 27
San Francisco 27
Atlanta 26
Boston 26
Lauterbourg 26
Orem 26
Guangzhou 25
Jinan 25
Johannesburg 25
Naples 25
Aachen 23
Brasília 21
Falls Church 21
Chennai 20
Fremont 19
Vienna 19
Amsterdam 18
Hangzhou 18
Montreal 18
Ningbo 18
Taizhou 18
Totale 25.320
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Nome #
ACE2 gene variants may underlie interindividual variability and susceptibility to COVID-19 in the Italian population 546
A first update on mapping the human genetic architecture of COVID-19 540
A genome-wide association study for survival from a multi-centre European study identified variants associated with COVID-19 risk of death 461
Association of toll-like receptor 7 variants with life-threatening COVID-19 disease in males: Findings from a nested case-control study 456
MEIS2 gene is responsible for intellectual disability, cardiac defects and a distinct facial phenotype 435
Exome sequencing analysis in a pair of monozygotic twins re-evaluates the genetics behind their intellectual disability and reveals a CHD2 mutation 395
13q Deletion syndrome and retinoblastoma in identical dichorionic diamniotic monozygotic twins 369
iPSC-derived neurons profiling reveals GABAergic circuit disruption and acetylated α-tubulin defect which improves after iHDAC6 treatment in Rett syndrome 358
Evidence of predisposing epimutation in retinoblastoma 354
Coffin-Siris and Nicolaides-Baraitser syndromes are a common well recognizable cause of intellectual disability. 333
Genetic mechanisms of critical illness in COVID-19 332
The polymorphism L412F in TLR3 inhibits autophagy and is a marker of severe COVID-19 in males 329
An explainable model of host genetic interactions linked to COVID-19 severity 326
Next generation sequencing in sporadic retinoblastoma patients reveals somatic mosaicism 313
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 303
Array comparative genomic hybridization in retinoma and retinoblastoma tissues. 300
3.2 Mb microdeletion in chromosome 7 bands q22.2-q22.3 associated with overgrowth and delayed bone age 297
A 3 Mb deletion in 14q12 causes severe mental retardation, mild facial dysmorphisms and Rett-like features 291
Revealing the complexity of a monogenic disease: rett syndrome exome sequencing 289
Combined ultrasound and exome sequencing approach recognizes Opitz G/BBB syndrome in two malformed fetuses 287
Employing a systematic approach to biobanking and analyzing clinical and genetic data for advancing COVID-19 research 286
Genomic differences between retinoma and retinoblastoma 284
9q31.1q31.3 deletion in two patients with similar clinical features: A newly recognized microdeletion syndrome? 283
Alport syndrome: impact of digenic inheritance in patients management 281
Epilepsy in Rett syndrome - Lessons from the Rett networked database 279
Visual impairment in FOXG1-mutated individuals and mice 278
Interstitial 22q13 deletions not involving SHANK3 gene: A new contiguous gene syndrome 278
A 9.3 Mb microdeletion of 3q27.3q29 associated with psychomotor and growth delay, tricuspid valve dysplasia and bifid thumb 278
CDKL5 belongs to the same molecular pathway of MeCP2 and it is responsible for the early-onset seizure variant of Rett syndrome 276
Potentially treatable disorder diagnosed post Mortem by exome analysis in a boy with respiratory distress 275
A comprehensive molecular study on Coffin-Siris and Nicolaides-Baraitser syndromes identifies a broad molecular and clinical spectrum converging on altered chromatin remodeling. 273
Pathogen-sugar interactions revealed by universal saturation transfer analysis 270
2q24-q31 deletion: report of a case and review of the literature 268
Evidence of digenic inheritance in Alport syndrome 267
Exome sequencing coupled with mRNA analysis identifies NDUFAF6 as a Leigh gene 267
Alport syndrome and leiomyomatosis: the first deletion extending beyond COL4A6 intron 2 266
Analysis of the Phenotypes in the Rett Networked Database 265
Mapping the human genetic architecture of COVID-19 263
Common, low-frequency, rare, and ultra-rare coding variants contribute to COVID-19 severity 259
Ambiguous external genitalia due to defect of 5-α-reductase in seven Iraqi patients: Prevalence of a novel mutation 252
Germline mosaicism in Rett syndrome identified by prenatal diagnosis 251
Private inherited microdeletion/microduplications: implications in clinical practice 251
Advances in Alport syndrome diagnosis using next-generation sequencing 245
Shorter androgen receptor polyQ alleles protect against life-threatening COVID-19 disease in European males 245
CDKL5/STK9 is mutated in Rett syndrome variant with infantile spasms. 244
Phenotype and genotype of 87 patients with Mowat-Wilson syndrome and recommendations for care 238
Redox imbalance and morphological changes in skin fibroblasts in typical Rett syndrome 238
Advances and unmet needs in genetic, basic and clinical science in Alport syndrome: report from the 2015 International Workshop on Alport Syndrome 238
Delineation of the phenotype associated with 7q36.1q36.2 deletion: long QT syndrome, renal hypoplasia and mental retardation 237
COL4A3/COL4A4 mutations: from familial hematuria to autosomal-dominant or recessive Alport syndrome 236
Personalized therapy in a GRIN1 mutated girl with intellectual disability and epilepsy 236
A mutation in the rett syndrome gene, MECP2, causes X-linked mental retardation and progressive spasticity in males. 236
Mitochondrial abnormalities in genetically assessed oculopharyngeal muscular dystrophy 235
Rare variants in Toll-like receptor 7 results in functional impairment and downregulation of cytokine-mediated signaling in COVID-19 patients 232
A case of spastic paraplegia type 11 mimicking a GM2-gangliosidosis 231
Creatine transporter defect diagnosed by proton NMR spectroscopy in males with intellectual disability. 231
14q12 Microdeletion syndrome and congenital variant of Rett syndrome 231
Chromosome 2 deletion encompassing the MAP2 gene in a patient with autism and Rett-like features 229
Carriers of ADAMTS13 Rare Variants Are at High Risk of Life-Threatening COVID-19 227
Expanding the phenotype of 22q11 deletion syndrome: the MURCS association 226
Rare variants in the genetic background modulate cognitive and developmental phenotypes in individuals carrying disease-associated variants 226
Triorchidism: genetic and imaging evaluation in an adult male 225
Non-collagen genes role in digenic Alport syndrome 223
Autosomal-dominant Alport syndrome: natural history of a disease due to COL4A3 or COL4A4 gene. 221
Investigation of modifier genes within copy number variations in Rett syndrome 219
SARS-CoV-2 susceptibility and COVID-19 disease severity are associated with genetic variants affecting gene expression in a variety of tissues 216
A spectrum of LMX1B mutations in Nail-Patella syndrome: new point mutations, deletion, and evidence of mosaicism in unaffected parents 213
Chromosomal contacts connect loci associated with autism, BMI and head circumference phenotypes 213
Huntington's disease gene expansion associates with early onset nonprogressive chorea 213
RSK2 enzymatic assay as a second level diagnostic tool in Coffin-Lowry syndrome. 213
Xq28 duplications including MECP2 in five females: Expanding the phenotype to severe mental retardation 212
Retinoblastoma and mental retardation microdeletion syndrome: clinical characterization and molecular dissection using array CGH 207
GluD1 is a common altered player in neuronal differentiation from both MECP2-mutated and CDKL5-mutated iPS cells 207
Severe COVID-19 in hospitalized carriers of single CFTR pathogenic variants 205
Uncovering recessive likely pathogenic variants, using microdeletion sindrome with unusual phenotypes 202
Expert consensus guidelines for the genetic diagnosis of Alport syndrome 202
A Unique Patient Presenting with Concomitant Klinefelter Syndrome, Alport Syndrome and Craniopharyngioma. 200
Clinical and molecular characterization of Italian patients affected by Cohen syndrome 200
Overlapping microdeletions involving 15q22.2 narrow the critical region for intellectual disability to NARG2 and RORA 199
iPS cells to model CDKL5-related disorders 197
Gain- and Loss-of-Function CFTR Alleles Are Associated with COVID-19 Clinical Outcomes 197
Type-IV collagen related diseases 194
C9orf72 intermediate repeats confer genetic risk for severe covid-19 pneumonia independently of age 193
Oligogenic germline mutations identified in early non-smokers lung adenocarcinoma patients 192
Italian Rett database and biobank 189
IQSEC2 disorder: A new disease entity or a Rett spectrum continuum? 188
13q Deletion Syndrome Involving RB1: Characterization of a New Minimal Critical Region for Psychomotor Delay 185
Mutational screening of the RB1 gene in Italian patients with retinoblastoma reveals 11 novel mutations. 185
WES profiling of COVID-19 183
null 182
The phenotype of floating-harbor syndrome: clinical characterization of 52 individuals with mutations in exon 34 of SRCAP. 181
Blepharophimosis, ptosis, and epicanthus inversus syndrome: clinical and molecular analysis of a case 181
Mild brachydactyly type A1 maps to chromosome 2q35-q36 and is caused by a novel IHH mutation in a three generation family 179
PAX6 mutation in a family with aniridia, congenital ptosis, and mental retardation 178
Expanding the phenotype associated with FOXG1 mutations and in vivo FoxG1 chromatin-binding dynamics 176
Epilepsy in Mowat-Wilson syndrome: Delineation of the electroclinical phenotype. 174
Rett syndrome: the complex nature of a monogenic disease 172
Nicolaides–Baraitser syndrome: defining a phenotype 172
Thin glomerular basement membrane disease: clinical significance of a morphological diagnosis a collaborative study of the Italian Renal Immunopathology Group 170
Identification of sixty-two novel and twelve known FBN1 mutations in eighty-one unrelated probands with Marfan syndrome and other fibrillinopathies 169
Totale 25.352
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Categoria #
all - tutte 117.367
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 117.367
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2020/20212.176 0 0 0 0 0 272 164 410 348 438 310 234
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
2025/202610.296 1.070 2.292 2.160 1.837 2.761 176 0 0 0 0 0 0
Totale 37.470