IRIS
MARI, FRANCESCA
 Distribuzione geografica
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Continente #
NA - Nord America 11.006
EU - Europa 9.687
AS - Asia 1.595
AF - Africa 38
OC - Oceania 27
SA - Sud America 14
Continente sconosciuto - Info sul continente non disponibili 9
Totale 22.376
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Nazione #
US - Stati Uniti d'America 10.963
GB - Regno Unito 2.413
IT - Italia 1.650
IE - Irlanda 1.611
CN - Cina 1.023
SE - Svezia 772
UA - Ucraina 752
DE - Germania 682
RU - Federazione Russa 662
FR - Francia 469
FI - Finlandia 308
SG - Singapore 299
BE - Belgio 91
VN - Vietnam 87
NL - Olanda 73
ES - Italia 66
TR - Turchia 62
CZ - Repubblica Ceca 46
CA - Canada 33
CI - Costa d'Avorio 31
IN - India 27
AU - Australia 22
IR - Iran 22
HK - Hong Kong 17
CH - Svizzera 16
PL - Polonia 14
BG - Bulgaria 10
JP - Giappone 10
EU - Europa 9
GR - Grecia 8
PK - Pakistan 8
CL - Cile 7
LV - Lettonia 6
IL - Israele 5
MK - Macedonia 5
NZ - Nuova Zelanda 5
AZ - Azerbaigian 4
BR - Brasile 4
DK - Danimarca 4
HU - Ungheria 4
KR - Corea 4
LT - Lituania 4
MX - Messico 4
PH - Filippine 4
AT - Austria 3
BA - Bosnia-Erzegovina 3
CY - Cipro 3
RO - Romania 3
BD - Bangladesh 2
BY - Bielorussia 2
HR - Croazia 2
ID - Indonesia 2
KG - Kirghizistan 2
LK - Sri Lanka 2
MA - Marocco 2
NG - Nigeria 2
QA - Qatar 2
SK - Slovacchia (Repubblica Slovacca) 2
TW - Taiwan 2
ZA - Sudafrica 2
AE - Emirati Arabi Uniti 1
AM - Armenia 1
AR - Argentina 1
BN - Brunei Darussalam 1
DO - Repubblica Dominicana 1
EC - Ecuador 1
EE - Estonia 1
EG - Egitto 1
GD - Grenada 1
JM - Giamaica 1
KZ - Kazakistan 1
LA - Repubblica Popolare Democratica del Laos 1
LU - Lussemburgo 1
ME - Montenegro 1
MM - Myanmar 1
MS - Montserrat 1
NO - Norvegia 1
PA - Panama 1
PE - Perù 1
PR - Porto Rico 1
PT - Portogallo 1
SA - Arabia Saudita 1
SI - Slovenia 1
TM - Turkmenistan 1
Totale 22.376
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Città #
Southend 2.184
Fairfield 1.668
Dublin 1.592
Ashburn 979
Chandler 925
Woodbridge 844
Seattle 695
Houston 660
Jacksonville 621
Ann Arbor 593
Wilmington 592
Cambridge 583
Siena 412
Santa Clara 346
Menlo Park 276
Princeton 255
Beijing 248
Singapore 222
Nanjing 221
Helsinki 175
New York 133
Florence 113
Boardman 112
Milan 101
San Diego 99
Dong Ket 84
Shanghai 81
Dearborn 80
San Mateo 74
Munich 69
Nanchang 63
Brussels 60
Rome 58
Lancaster 53
Málaga 53
Shenyang 51
Izmir 50
Moscow 43
Hebei 41
Tianjin 41
Washington 40
Norwalk 39
London 38
Brno 33
Los Angeles 32
Abidjan 31
Waanrode 30
Jiaxing 29
Changsha 26
Kunming 26
Naples 24
Aachen 23
Zhengzhou 22
Falls Church 21
Jinan 21
Brescia 19
Fremont 19
Toronto 19
Chicago 17
Düsseldorf 17
Ningbo 17
Taizhou 17
Phoenix 16
Guangzhou 15
Hangzhou 15
Padova 15
Bologna 14
Nuremberg 14
Redwood City 14
Dallas 13
Hong Kong 13
San Francisco 13
Frankfurt am Main 11
Venezia 11
Canberra 10
Comun Nuovo 10
Hyderabad 10
Paris 10
Sofia 10
Zanjan 10
Hounslow 9
Lappeenranta 9
Columbus 8
Ferrara 8
Lucca 8
Tokyo 8
Catania 7
Catanzaro 7
Falkenstein 7
Kilburn 7
Maassluis 7
Melbourne 7
Pisa 7
Anagni 6
Bergamo 6
Changchun 6
Empoli 6
Lanzhou 6
Livorno 6
Madrid 6
Totale 16.475
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Nome #
MEIS2 gene is responsible for intellectual disability, cardiac defects and a distinct facial phenotype 336
Coffin-Siris and Nicolaides-Baraitser syndromes are a common well recognizable cause of intellectual disability. 255
Evidence of predisposing epimutation in retinoblastoma 254
iPSC-derived neurons profiling reveals GABAergic circuit disruption and acetylated α-tubulin defect which improves after iHDAC6 treatment in Rett syndrome 252
13q Deletion syndrome and retinoblastoma in identical dichorionic diamniotic monozygotic twins 237
Next generation sequencing in sporadic retinoblastoma patients reveals somatic mosaicism 229
Revealing the complexity of a monogenic disease: rett syndrome exome sequencing 228
Visual impairment in FOXG1-mutated individuals and mice 226
Potentially treatable disorder diagnosed post Mortem by exome analysis in a boy with respiratory distress 211
Interstitial 22q13 deletions not involving SHANK3 gene: A new contiguous gene syndrome 210
Combined ultrasound and exome sequencing approach recognizes Opitz G/BBB syndrome in two malformed fetuses 205
Exome sequencing coupled with mRNA analysis identifies NDUFAF6 as a Leigh gene 203
Epilepsy in Rett syndrome - Lessons from the Rett networked database 201
ACE2 gene variants may underlie interindividual variability and susceptibility to COVID-19 in the Italian population 201
Genetic mechanisms of critical illness in COVID-19 201
Alport syndrome: impact of digenic inheritance in patients management 200
Evidence of digenic inheritance in Alport syndrome 194
Phenotype and genotype of 87 patients with Mowat-Wilson syndrome and recommendations for care 194
9q31.1q31.3 deletion in two patients with similar clinical features: A newly recognized microdeletion syndrome? 194
Genomic differences between retinoma and retinoblastoma 191
Exome sequencing analysis in a pair of monozygotic twins re-evaluates the genetics behind their intellectual disability and reveals a CHD2 mutation 190
Alport syndrome and leiomyomatosis: the first deletion extending beyond COL4A6 intron 2 188
Array comparative genomic hybridization in retinoma and retinoblastoma tissues. 186
Mitochondrial abnormalities in genetically assessed oculopharyngeal muscular dystrophy 185
Analysis of the Phenotypes in the Rett Networked Database 185
Employing a systematic approach to biobanking and analyzing clinical and genetic data for advancing COVID-19 research 185
Non-collagen genes role in digenic Alport syndrome 183
null 182
Germline mosaicism in Rett syndrome identified by prenatal diagnosis 180
Personalized therapy in a GRIN1 mutated girl with intellectual disability and epilepsy 180
Redox imbalance and morphological changes in skin fibroblasts in typical Rett syndrome 178
COL4A3/COL4A4 mutations: from familial hematuria to autosomal-dominant or recessive Alport syndrome 177
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 176
CDKL5 belongs to the same molecular pathway of MeCP2 and it is responsible for the early-onset seizure variant of Rett syndrome 175
Rare variants in the genetic background modulate cognitive and developmental phenotypes in individuals carrying disease-associated variants 175
Advances and unmet needs in genetic, basic and clinical science in Alport syndrome: report from the 2015 International Workshop on Alport Syndrome 174
3.2 Mb microdeletion in chromosome 7 bands q22.2-q22.3 associated with overgrowth and delayed bone age 172
Chromosomal contacts connect loci associated with autism, BMI and head circumference phenotypes 171
Delineation of the phenotype associated with 7q36.1q36.2 deletion: long QT syndrome, renal hypoplasia and mental retardation 169
Private inherited microdeletion/microduplications: implications in clinical practice 169
Expert consensus guidelines for the genetic diagnosis of Alport syndrome 169
Creatine transporter defect diagnosed by proton NMR spectroscopy in males with intellectual disability. 167
Advances in Alport syndrome diagnosis using next-generation sequencing 164
A mutation in the rett syndrome gene, MECP2, causes X-linked mental retardation and progressive spasticity in males. 164
A 9.3 Mb microdeletion of 3q27.3q29 associated with psychomotor and growth delay, tricuspid valve dysplasia and bifid thumb 163
Autosomal-dominant Alport syndrome: natural history of a disease due to COL4A3 or COL4A4 gene. 162
Ambiguous external genitalia due to defect of 5-α-reductase in seven Iraqi patients: Prevalence of a novel mutation 161
A 3 Mb deletion in 14q12 causes severe mental retardation, mild facial dysmorphisms and Rett-like features 159
The polymorphism L412F in TLR3 inhibits autophagy and is a marker of severe COVID-19 in males 158
Huntington's disease gene expansion associates with early onset nonprogressive chorea 157
RSK2 enzymatic assay as a second level diagnostic tool in Coffin-Lowry syndrome. 156
Shorter androgen receptor polyQ alleles protect against life-threatening COVID-19 disease in European males 154
14q12 Microdeletion syndrome and congenital variant of Rett syndrome 153
Xq28 duplications including MECP2 in five females: Expanding the phenotype to severe mental retardation 152
Triorchidism: genetic and imaging evaluation in an adult male 152
Oligogenic germline mutations identified in early non-smokers lung adenocarcinoma patients 152
Expanding the phenotype of 22q11 deletion syndrome: the MURCS association 150
The phenotype of floating-harbor syndrome: clinical characterization of 52 individuals with mutations in exon 34 of SRCAP. 148
2q24-q31 deletion: report of a case and review of the literature 148
Nicolaides–Baraitser syndrome: defining a phenotype 146
Uncovering recessive likely pathogenic variants, using microdeletion sindrome with unusual phenotypes 145
Clinical and molecular characterization of Italian patients affected by Cohen syndrome 145
A spectrum of LMX1B mutations in Nail-Patella syndrome: new point mutations, deletion, and evidence of mosaicism in unaffected parents 143
iPS cells to model CDKL5-related disorders 143
GluD1 is a common altered player in neuronal differentiation from both MECP2-mutated and CDKL5-mutated iPS cells 143
A Unique Patient Presenting with Concomitant Klinefelter Syndrome, Alport Syndrome and Craniopharyngioma. 143
Overlapping microdeletions involving 15q22.2 narrow the critical region for intellectual disability to NARG2 and RORA 142
Chromosome 2 deletion encompassing the MAP2 gene in a patient with autism and Rett-like features 142
Italian Rett database and biobank 141
Investigation of modifier genes within copy number variations in Rett syndrome 141
IQSEC2 disorder: A new disease entity or a Rett spectrum continuum? 141
null 140
Association of toll-like receptor 7 variants with life-threatening COVID-19 disease in males: Findings from a nested case-control study 140
A comprehensive molecular study on Coffin-Siris and Nicolaides-Baraitser syndromes identifies a broad molecular and clinical spectrum converging on altered chromatin remodeling. 139
Expanding the phenotype associated with FOXG1 mutations and in vivo FoxG1 chromatin-binding dynamics 135
Al-Awadi-Raas-Rothschild (limb/pelvis/uterus-hypoplasia/aplasia) syndrome and WNT7A mutations: genetic homogeneity and nosological delineation 134
Pathogen-sugar interactions revealed by universal saturation transfer analysis 133
Mutational screening of the RB1 gene in Italian patients with retinoblastoma reveals 11 novel mutations. 133
null 133
Retinoblastoma and mental retardation microdeletion syndrome: clinical characterization and molecular dissection using array CGH 132
Unbiased Next Generation Sequencing analysis confirms the existence of autosomal dominant Alport syndrome in a relevant fraction of cases 132
Rett networked database: An integrated clinical and genetic network of rett syndrome databases 131
The XLMR gene ACSL4 plays a role in dendritic spine architecture 130
Phenotypic clustering of lamin A/C mutations in neuromuscular patients 129
Dual copy number variants involving 16p11 and 6q22 in a case of childhood apraxia of speech and pervasive developmental disorder 129
CDKL5/STK9 is mutated in Rett syndrome variant with infantile spasms. 128
Type-IV collagen related diseases 127
Autosomal recessive Alport syndrome: an in-depth clinical and molecular analysis of five families 127
Neurological presentation of Ehlers-Danlos syndrome type IV in a family with parental mosaicism 127
Rett syndrome: the complex nature of a monogenic disease 126
Diagnostic criteria for the Zappella variant of Rett syndrome (the preserved speech variant) 126
null 126
PAX6 mutation in a family with aniridia, congenital ptosis, and mental retardation 125
Epilepsy in Mowat-Wilson syndrome: Delineation of the electroclinical phenotype. 124
null 123
Identification of sixty-two novel and twelve known FBN1 mutations in eighty-one unrelated probands with Marfan syndrome and other fibrillinopathies 121
Early-onset seizure variant of Rett syndrome: definition of the clinical diagnostic criteria 121
Mutational spectrum of the oral-facial-digital type I syndrome: a study on a large collection of patients. 120
Mild brachydactyly type A1 maps to chromosome 2q35-q36 and is caused by a novel IHH mutation in a three generation family 120
Unmasking of a Recessive SCARF2 Mutation by a 22q11.12 de novo Deletion in a Patient with Van den Ende-Gupta Syndrome 120
Totale 16.437
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Categoria #
all - tutte 78.980
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 78.980
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2019/20202.774 0 0 0 0 352 371 401 540 409 341 114 246
2020/20213.228 139 320 112 289 183 273 165 412 351 438 312 234
2021/20222.406 192 323 118 213 112 72 133 102 112 246 264 519
2022/20233.437 203 317 391 431 344 647 187 289 313 97 124 94
2023/20242.880 124 93 317 187 119 720 853 92 49 82 79 165
2024/20252.070 188 297 627 375 583 0 0 0 0 0 0 0
Totale 22.900