IRIS
MARI, FRANCESCA
 Distribuzione geografica
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Continente #
NA - Nord America 10.638
EU - Europa 8.763
AS - Asia 1.303
OC - Oceania 26
SA - Sud America 11
Continente sconosciuto - Info sul continente non disponibili 9
AF - Africa 6
Totale 20.756
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Nazione #
US - Stati Uniti d'America 10.605
GB - Regno Unito 2.416
IE - Irlanda 1.667
IT - Italia 1.385
CN - Cina 974
SE - Svezia 778
UA - Ucraina 752
DE - Germania 615
FR - Francia 466
FI - Finlandia 279
VN - Vietnam 86
BE - Belgio 81
SG - Singapore 75
RU - Federazione Russa 69
ES - Italia 68
TR - Turchia 62
NL - Olanda 61
CZ - Repubblica Ceca 51
CA - Canada 25
IN - India 25
AU - Australia 22
IR - Iran 22
HK - Hong Kong 16
CH - Svizzera 12
BG - Bulgaria 10
PL - Polonia 10
EU - Europa 9
PK - Pakistan 9
JP - Giappone 8
GR - Grecia 7
CL - Cile 6
MK - Macedonia 5
BR - Brasile 4
HU - Ungheria 4
MX - Messico 4
NZ - Nuova Zelanda 4
PH - Filippine 4
RO - Romania 4
AT - Austria 3
BA - Bosnia-Erzegovina 3
IL - Israele 3
KR - Corea 3
LV - Lettonia 3
AZ - Azerbaigian 2
CY - Cipro 2
DK - Danimarca 2
EE - Estonia 2
ID - Indonesia 2
KG - Kirghizistan 2
LT - Lituania 2
MA - Marocco 2
NG - Nigeria 2
QA - Qatar 2
SK - Slovacchia (Repubblica Slovacca) 2
ZA - Sudafrica 2
AE - Emirati Arabi Uniti 1
AL - Albania 1
AM - Armenia 1
AR - Argentina 1
BD - Bangladesh 1
BN - Brunei Darussalam 1
BY - Bielorussia 1
CR - Costa Rica 1
GD - Grenada 1
IS - Islanda 1
ME - Montenegro 1
MM - Myanmar 1
MS - Montserrat 1
PR - Porto Rico 1
PT - Portogallo 1
SI - Slovenia 1
TW - Taiwan 1
Totale 20.756
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Città #
Southend 2.194
Fairfield 1.668
Dublin 1.647
Ashburn 994
Chandler 936
Woodbridge 844
Seattle 697
Houston 660
Jacksonville 621
Ann Arbor 593
Wilmington 592
Cambridge 583
Siena 350
Menlo Park 276
Princeton 257
Beijing 244
Nanjing 221
Helsinki 152
New York 145
Boardman 115
Florence 110
San Diego 99
Dong Ket 84
Shanghai 81
Dearborn 80
Milan 77
San Mateo 74
Nanchang 63
Málaga 58
Lancaster 53
Brussels 51
Izmir 50
Shenyang 49
Moscow 43
Washington 43
Hebei 41
Tianjin 40
Norwalk 39
Rome 39
Brno 37
Singapore 37
London 36
Waanrode 30
Jiaxing 29
Changsha 26
Kunming 26
Aachen 23
Los Angeles 23
Falls Church 21
Jinan 21
Zhengzhou 21
Fremont 20
Chicago 19
Düsseldorf 17
Ningbo 17
Phoenix 16
Taizhou 16
Hangzhou 15
Munich 15
Padova 15
Naples 14
Redwood City 14
San Francisco 14
Toronto 13
Brescia 12
Hong Kong 12
Bologna 11
Guangzhou 11
Venezia 11
Canberra 10
Comun Nuovo 10
Hyderabad 10
Sofia 10
Zanjan 10
Hounslow 9
Falkenstein 8
Lappeenranta 8
Verona 8
Catania 7
Kilburn 7
Maassluis 7
Melbourne 7
Olomouc 7
Paris 7
Bergamo 6
Changchun 6
Empoli 6
Lanzhou 6
Livorno 6
Philadelphia 6
Rubano 6
Sesto Fiorentino 6
Southwark 6
Tappahannock 6
Tokyo 6
Turin 6
Amsterdam 5
Bolzano 5
Bonndorf 5
Grosseto 5
Totale 15.772
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Nome #
MEIS2 gene is responsible for intellectual disability, cardiac defects and a distinct facial phenotype 277
Coffin-Siris and Nicolaides-Baraitser syndromes are a common well recognizable cause of intellectual disability. 243
Evidence of predisposing epimutation in retinoblastoma 240
iPSC-derived neurons profiling reveals GABAergic circuit disruption and acetylated α-tubulin defect which improves after iHDAC6 treatment in Rett syndrome 238
13q Deletion syndrome and retinoblastoma in identical dichorionic diamniotic monozygotic twins 222
Visual impairment in FOXG1-mutated individuals and mice 218
Revealing the complexity of a monogenic disease: rett syndrome exome sequencing 218
Next generation sequencing in sporadic retinoblastoma patients reveals somatic mosaicism 215
Potentially treatable disorder diagnosed post Mortem by exome analysis in a boy with respiratory distress 201
Interstitial 22q13 deletions not involving SHANK3 gene: A new contiguous gene syndrome 200
Exome sequencing coupled with mRNA analysis identifies NDUFAF6 as a Leigh gene 192
Epilepsy in Rett syndrome - Lessons from the Rett networked database 191
Alport syndrome: impact of digenic inheritance in patients management 191
Combined ultrasound and exome sequencing approach recognizes Opitz G/BBB syndrome in two malformed fetuses 190
Evidence of digenic inheritance in Alport syndrome 183
Phenotype and genotype of 87 patients with Mowat-Wilson syndrome and recommendations for care 183
null 182
9q31.1q31.3 deletion in two patients with similar clinical features: A newly recognized microdeletion syndrome? 182
Exome sequencing analysis in a pair of monozygotic twins re-evaluates the genetics behind their intellectual disability and reveals a CHD2 mutation 180
Alport syndrome and leiomyomatosis: the first deletion extending beyond COL4A6 intron 2 180
ACE2 gene variants may underlie interindividual variability and susceptibility to COVID-19 in the Italian population 180
Genomic differences between retinoma and retinoblastoma 179
Mitochondrial abnormalities in genetically assessed oculopharyngeal muscular dystrophy 177
Non-collagen genes role in digenic Alport syndrome 177
Genetic mechanisms of critical illness in COVID-19 175
Analysis of the Phenotypes in the Rett Networked Database 173
null 171
COL4A3/COL4A4 mutations: from familial hematuria to autosomal-dominant or recessive Alport syndrome 170
Array comparative genomic hybridization in retinoma and retinoblastoma tissues. 170
Personalized therapy in a GRIN1 mutated girl with intellectual disability and epilepsy 169
Germline mosaicism in Rett syndrome identified by prenatal diagnosis 168
Chromosomal contacts connect loci associated with autism, BMI and head circumference phenotypes 167
Rare variants in the genetic background modulate cognitive and developmental phenotypes in individuals carrying disease-associated variants 167
CDKL5 belongs to the same molecular pathway of MeCP2 and it is responsible for the early-onset seizure variant of Rett syndrome 165
Redox imbalance and morphological changes in skin fibroblasts in typical Rett syndrome 165
Expert consensus guidelines for the genetic diagnosis of Alport syndrome 164
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 163
3.2 Mb microdeletion in chromosome 7 bands q22.2-q22.3 associated with overgrowth and delayed bone age 161
Advances and unmet needs in genetic, basic and clinical science in Alport syndrome: report from the 2015 International Workshop on Alport Syndrome 161
Delineation of the phenotype associated with 7q36.1q36.2 deletion: long QT syndrome, renal hypoplasia and mental retardation 160
Private inherited microdeletion/microduplications: implications in clinical practice 160
Creatine transporter defect diagnosed by proton NMR spectroscopy in males with intellectual disability. 156
Ambiguous external genitalia due to defect of 5-α-reductase in seven Iraqi patients: Prevalence of a novel mutation 152
A mutation in the rett syndrome gene, MECP2, causes X-linked mental retardation and progressive spasticity in males. 152
Autosomal-dominant Alport syndrome: natural history of a disease due to COL4A3 or COL4A4 gene. 151
Advances in Alport syndrome diagnosis using next-generation sequencing 150
A 9.3 Mb microdeletion of 3q27.3q29 associated with psychomotor and growth delay, tricuspid valve dysplasia and bifid thumb 150
Huntington's disease gene expansion associates with early onset nonprogressive chorea 149
Oligogenic germline mutations identified in early non-smokers lung adenocarcinoma patients 149
A 3 Mb deletion in 14q12 causes severe mental retardation, mild facial dysmorphisms and Rett-like features 147
RSK2 enzymatic assay as a second level diagnostic tool in Coffin-Lowry syndrome. 147
Xq28 duplications including MECP2 in five females: Expanding the phenotype to severe mental retardation 146
Triorchidism: genetic and imaging evaluation in an adult male 145
The phenotype of floating-harbor syndrome: clinical characterization of 52 individuals with mutations in exon 34 of SRCAP. 142
Nicolaides–Baraitser syndrome: defining a phenotype 141
14q12 Microdeletion syndrome and congenital variant of Rett syndrome 141
null 140
2q24-q31 deletion: report of a case and review of the literature 140
A spectrum of LMX1B mutations in Nail-Patella syndrome: new point mutations, deletion, and evidence of mosaicism in unaffected parents 138
Expanding the phenotype of 22q11 deletion syndrome: the MURCS association 138
Italian Rett database and biobank 136
Clinical and molecular characterization of Italian patients affected by Cohen syndrome 136
Overlapping microdeletions involving 15q22.2 narrow the critical region for intellectual disability to NARG2 and RORA 135
Uncovering recessive likely pathogenic variants, using microdeletion sindrome with unusual phenotypes 135
GluD1 is a common altered player in neuronal differentiation from both MECP2-mutated and CDKL5-mutated iPS cells. 135
null 135
iPS cells to model CDKL5-related disorders 133
null 133
Investigation of modifier genes within copy number variations in Rett syndrome 132
Chromosome 2 deletion encompassing the MAP2 gene in a patient with autism and Rett-like features 132
A Unique Patient Presenting with Concomitant Klinefelter Syndrome, Alport Syndrome and Craniopharyngioma. 132
A comprehensive molecular study on Coffin-Siris and Nicolaides-Baraitser syndromes identifies a broad molecular and clinical spectrum converging on altered chromatin remodeling. 130
IQSEC2 disorder: A new disease entity or a Rett spectrum continuum? 130
Al-Awadi-Raas-Rothschild (limb/pelvis/uterus-hypoplasia/aplasia) syndrome and WNT7A mutations: genetic homogeneity and nosological delineation 128
Expanding the phenotype associated with FOXG1 mutations and in vivo FoxG1 chromatin-binding dynamics 128
Unbiased Next Generation Sequencing analysis confirms the existence of autosomal dominant Alport syndrome in a relevant fraction of cases 127
The polymorphism L412F in TLR3 inhibits autophagy and is a marker of severe COVID-19 in males 127
null 126
Mutational screening of the RB1 gene in Italian patients with retinoblastoma reveals 11 novel mutations. 125
Phenotypic clustering of lamin A/C mutations in neuromuscular patients 124
Retinoblastoma and mental retardation microdeletion syndrome: clinical characterization and molecular dissection using array CGH 124
The XLMR gene ACSL4 plays a role in dendritic spine architecture 124
Dual copy number variants involving 16p11 and 6q22 in a case of childhood apraxia of speech and pervasive developmental disorder 123
null 123
Neurological presentation of Ehlers-Danlos syndrome type IV in a family with parental mosaicism 122
Rett networked database: An integrated clinical and genetic network of rett syndrome databases 122
Rett syndrome: the complex nature of a monogenic disease 120
CDKL5/STK9 is mutated in Rett syndrome variant with infantile spasms. 119
Autosomal recessive Alport syndrome: an in-depth clinical and molecular analysis of five families 119
Type-IV collagen related diseases 118
PAX6 mutation in a family with aniridia, congenital ptosis, and mental retardation 117
Early-onset seizure variant of Rett syndrome: definition of the clinical diagnostic criteria 116
Unmasking of a Recessive SCARF2 Mutation by a 22q11.12 de novo Deletion in a Patient with Van den Ende-Gupta Syndrome 116
Epilepsy in Mowat-Wilson syndrome: Delineation of the electroclinical phenotype. 116
Identification of sixty-two novel and twelve known FBN1 mutations in eighty-one unrelated probands with Marfan syndrome and other fibrillinopathies 115
null 115
Mild brachydactyly type A1 maps to chromosome 2q35-q36 and is caused by a novel IHH mutation in a three generation family 114
Diagnostic criteria for the Zappella variant of Rett syndrome (the preserved speech variant) 114
Mutational spectrum of the oral-facial-digital type I syndrome: a study on a large collection of patients. 113
Blepharophimosis, ptosis, and epicanthus inversus syndrome: clinical and molecular analysis of a case 113
Totale 15.424
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Categoria #
all - tutte 69.113
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 69.113
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2019/20204.517 541 204 285 713 352 371 401 540 409 341 114 246
2020/20213.228 139 320 112 289 183 273 165 412 351 438 312 234
2021/20222.428 192 323 119 217 113 75 134 103 113 247 269 523
2022/20233.501 204 323 394 433 348 650 189 299 336 103 126 96
2023/20243.062 129 96 331 196 127 762 893 102 54 97 95 180
2024/2025114 114 0 0 0 0 0 0 0 0 0 0 0
Totale 21.212