IRIS
RENIERI, ALESSANDRA
 Distribuzione geografica
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Continente #
NA - Nord America 20.936
EU - Europa 18.952
AS - Asia 3.267
AF - Africa 84
OC - Oceania 50
SA - Sud America 37
Continente sconosciuto - Info sul continente non disponibili 15
AN - Antartide 1
Totale 43.342
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Nazione #
US - Stati Uniti d'America 20.855
GB - Regno Unito 4.935
IE - Irlanda 3.239
IT - Italia 2.897
CN - Cina 2.026
UA - Ucraina 1.617
SE - Svezia 1.564
RU - Federazione Russa 1.333
DE - Germania 1.216
FR - Francia 968
SG - Singapore 663
FI - Finlandia 569
VN - Vietnam 215
BE - Belgio 127
ES - Italia 117
NL - Olanda 115
TR - Turchia 114
CZ - Repubblica Ceca 88
CA - Canada 69
CI - Costa d'Avorio 56
IN - India 53
AU - Australia 41
HK - Hong Kong 38
IR - Iran 35
CH - Svizzera 21
JP - Giappone 21
PL - Polonia 19
BR - Brasile 17
GR - Grecia 17
EU - Europa 15
BG - Bulgaria 13
RO - Romania 13
PK - Pakistan 11
AT - Austria 10
CL - Cile 10
DK - Danimarca 10
MA - Marocco 10
IL - Israele 9
KR - Corea 9
NZ - Nuova Zelanda 9
EG - Egitto 7
HU - Ungheria 7
LV - Lettonia 7
MX - Messico 7
PH - Filippine 7
AZ - Azerbaigian 6
ID - Indonesia 6
LT - Lituania 6
LU - Lussemburgo 6
MK - Macedonia 6
ZA - Sudafrica 6
AE - Emirati Arabi Uniti 5
LA - Repubblica Popolare Democratica del Laos 5
LK - Sri Lanka 5
PT - Portogallo 5
SK - Slovacchia (Repubblica Slovacca) 5
EC - Ecuador 4
KG - Kirghizistan 4
MT - Malta 4
NG - Nigeria 4
SA - Arabia Saudita 4
AL - Albania 3
AR - Argentina 3
BA - Bosnia-Erzegovina 3
CY - Cipro 3
KZ - Kazakistan 3
NO - Norvegia 3
TW - Taiwan 3
AM - Armenia 2
BD - Bangladesh 2
HR - Croazia 2
KH - Cambogia 2
MD - Moldavia 2
MY - Malesia 2
PE - Perù 2
QA - Qatar 2
UZ - Uzbekistan 2
BN - Brunei Darussalam 1
BT - Bhutan 1
BY - Bielorussia 1
DO - Repubblica Dominicana 1
EE - Estonia 1
GD - Grenada 1
GE - Georgia 1
GS - Georgia del Sud e Isole Sandwich Australi 1
IQ - Iraq 1
JM - Giamaica 1
JO - Giordania 1
LB - Libano 1
ME - Montenegro 1
MM - Myanmar 1
MS - Montserrat 1
OM - Oman 1
PA - Panama 1
RS - Serbia 1
SI - Slovenia 1
SL - Sierra Leone 1
TH - Thailandia 1
TM - Turkmenistan 1
VE - Venezuela 1
Totale 43.342
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Città #
Southend 4.464
Fairfield 3.276
Dublin 3.205
Chandler 1.976
Ashburn 1.739
Woodbridge 1.570
Seattle 1.297
Jacksonville 1.294
Houston 1.225
Wilmington 1.219
Cambridge 1.086
Ann Arbor 1.043
Siena 696
Princeton 552
Menlo Park 525
Singapore 475
Nanjing 443
Beijing 435
Helsinki 293
New York 238
Boardman 229
San Mateo 224
Milan 219
Dong Ket 200
San Diego 194
Florence 156
Shanghai 151
Nanchang 147
Dearborn 129
Rome 125
Shenyang 109
Moscow 103
Munich 97
Málaga 89
Izmir 88
Tianjin 88
Brussels 84
Hebei 79
Lancaster 77
Norwalk 76
London 73
Brno 65
Washington 62
Los Angeles 61
Jiaxing 60
Abidjan 56
Kunming 55
Changsha 50
Jinan 50
Ningbo 44
Zhengzhou 43
Waanrode 41
Düsseldorf 40
Falls Church 40
Phoenix 37
Toronto 36
Naples 35
Venezia 35
Guangzhou 34
Padova 32
San Francisco 32
Hangzhou 31
Redwood City 30
Aachen 29
Chicago 29
Bologna 28
Hong Kong 27
Taizhou 27
Fremont 25
Turin 24
Dallas 22
Philadelphia 22
Detroit 21
Hounslow 20
Amsterdam 18
Nuremberg 18
Brescia 17
Santa Clara 16
Canberra 15
Kilburn 15
Mestre 15
Tokyo 15
Zanjan 15
Lucca 14
Salerno 14
Bari 13
Empoli 13
Lappeenranta 13
Melbourne 13
Paris 13
Pisa 13
Prague 13
Sofia 13
Edinburgh 12
Frankfurt am Main 12
Hyderabad 12
Monza 12
Tappahannock 12
Cagliari 11
Changchun 11
Totale 31.389
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Nome #
VEXAS syndrome: a new paradigm for adult-onset monogenic autoinflammatory diseases 497
MEIS2 gene is responsible for intellectual disability, cardiac defects and a distinct facial phenotype 332
Omic Approach in Non-Smoker Female with Lung Squamous Cell Carcinoma Pinpoints to Germline Susceptibility and Personalized Medicine 264
Coffin-Siris and Nicolaides-Baraitser syndromes are a common well recognizable cause of intellectual disability. 252
Evidence of predisposing epimutation in retinoblastoma 252
iPSC-derived neurons profiling reveals GABAergic circuit disruption and acetylated α-tubulin defect which improves after iHDAC6 treatment in Rett syndrome 250
13q Deletion syndrome and retinoblastoma in identical dichorionic diamniotic monozygotic twins 235
Next generation sequencing in sporadic retinoblastoma patients reveals somatic mosaicism 226
Revealing the complexity of a monogenic disease: rett syndrome exome sequencing 225
Visual impairment in FOXG1-mutated individuals and mice 224
Clonality analysis of immunoglobulin gene rearrangement by next-generation sequencing in endemic burkitt lymphoma suggests antigen drive activation of bcr as opposed to sporadic burkitt lymphoma 221
Usefulness and limitations of comprehensive characterization of mRNA splicing profiles in the definition of the clinical relevance of BRCA1/2 variants of uncertain significance 215
Epigenetic and copy number variation analysis in retinoblastoma by MS-MLPA. 211
Interstitial 22q13 deletions not involving SHANK3 gene: A new contiguous gene syndrome 208
Potentially treatable disorder diagnosed post Mortem by exome analysis in a boy with respiratory distress 208
The role of surgical lung biopsy in the management of interstitial lung disease: experience from a single institution in the UK 205
Combined ultrasound and exome sequencing approach recognizes Opitz G/BBB syndrome in two malformed fetuses 203
Low-level TP53 mutational load antecedes clonal expansion in chronic lymphocytic leukaemia 203
The alliance between genetic biobanks and patient organisations: the experience of the telethon network of genetic biobanks 201
Alteration of serum lipid profile, SRB1 loss, and impaired Nrf2 activation in CDKL5 disorder 201
Exome sequencing coupled with mRNA analysis identifies NDUFAF6 as a Leigh gene 200
ACE2 gene variants may underlie interindividual variability and susceptibility to COVID-19 in the Italian population 199
Epilepsy in Rett syndrome - Lessons from the Rett networked database 198
Imbalance of excitatory/inhibitory synaptic protein expression in iPSC-derived neurons from FOXG1+/- patients and in foxg1+/- mice 198
Alport syndrome: impact of digenic inheritance in patients management 198
Phenotype and genotype of 87 patients with Mowat-Wilson syndrome and recommendations for care 192
Evidence of digenic inheritance in Alport syndrome 191
9q31.1q31.3 deletion in two patients with similar clinical features: A newly recognized microdeletion syndrome? 191
Genomic differences between retinoma and retinoblastoma 188
First identification of a triple corneal dystrophy association: keratoconus, epithelial basement membrane corneal dystrophy and fuchs' endothelial corneal dystrophy 187
Exome sequencing analysis in a pair of monozygotic twins re-evaluates the genetics behind their intellectual disability and reveals a CHD2 mutation 187
Alport syndrome and leiomyomatosis: the first deletion extending beyond COL4A6 intron 2 186
Inherited human IRAK-1 deficiency selectively impairs TLR signaling in fibroblasts 184
Array comparative genomic hybridization in retinoma and retinoblastoma tissues. 183
Analysis of the Phenotypes in the Rett Networked Database 183
null 182
Mitochondrial abnormalities in genetically assessed oculopharyngeal muscular dystrophy 182
Employing a systematic approach to biobanking and analyzing clinical and genetic data for advancing COVID-19 research 182
Non-collagen genes role in digenic Alport syndrome 181
X-Linked Alport Syndrome: Natural History and Genotype-Phenotype Correlations in Girls and Women Belonging to 195 Families: A "European Community Alport Syndrome Concerted Action" study 179
Frequency of OPA1 and OPTN gene variations in 18 patients with normal tension glaucoma 178
Germline mosaicism in Rett syndrome identified by prenatal diagnosis 178
Personalized therapy in a GRIN1 mutated girl with intellectual disability and epilepsy 178
FANCM c.5791C>T nonsense mutation (rs144567652) induces exon skipping, affects DNA repair activity and is a familial breast cancer risk factor 176
COL4A3/COL4A4 mutations: from familial hematuria to autosomal-dominant or recessive Alport syndrome 175
Exploiting the potential of next-generation sequencing in genomic medicine 175
Redox imbalance and morphological changes in skin fibroblasts in typical Rett syndrome 175
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 173
CDKL5 belongs to the same molecular pathway of MeCP2 and it is responsible for the early-onset seizure variant of Rett syndrome 173
Rare variants in the genetic background modulate cognitive and developmental phenotypes in individuals carrying disease-associated variants 173
Dropped-head in recessive oculopharyngeal muscular dystrophy 172
Advances and unmet needs in genetic, basic and clinical science in Alport syndrome: report from the 2015 International Workshop on Alport Syndrome 172
A new mutation in DNM2 gene in a large Italian family 172
Chromosomal contacts connect loci associated with autism, BMI and head circumference phenotypes 169
3.2 Mb microdeletion in chromosome 7 bands q22.2-q22.3 associated with overgrowth and delayed bone age 169
Novel TMEM67 mutations and genotype-phenotype correlates in meckelin-related ciliopathies. 168
A large-scale association study to assess the impact of known variants of the human INHA gene on premature ovarian failure 168
Delineation of the phenotype associated with 7q36.1q36.2 deletion: long QT syndrome, renal hypoplasia and mental retardation 167
Private inherited microdeletion/microduplications: implications in clinical practice 167
Expert consensus guidelines for the genetic diagnosis of Alport syndrome 167
Creatine transporter defect diagnosed by proton NMR spectroscopy in males with intellectual disability. 165
A 600 kb deletion syndrome at 16p11.2 leads to energy imbalance and neuropsychiatric disorders 163
Alport syndrome caused by a 5' deletion within the COL4A5 gene 163
16p11.2 600 kb Duplications confer risk for typical and atypical Rolandic epilepsy 163
Commentary: Potential links between hepadnavirus and bornavirus sequences in the host genome and cancer 162
Advances in Alport syndrome diagnosis using next-generation sequencing 161
A 9.3 Mb microdeletion of 3q27.3q29 associated with psychomotor and growth delay, tricuspid valve dysplasia and bifid thumb 161
A mutation in the rett syndrome gene, MECP2, causes X-linked mental retardation and progressive spasticity in males. 161
X-linked mental retardation: a diagnostic, clinical and molecular update 160
Autosomal-dominant Alport syndrome: natural history of a disease due to COL4A3 or COL4A4 gene. 160
Parent-of-origin effect of hypomorphic pathogenic variants and somatic mosaicism impact on phenotypic expression of retinoblastoma 160
Ambiguous external genitalia due to defect of 5-α-reductase in seven Iraqi patients: Prevalence of a novel mutation 159
Is HSD17B1 a new sex reversal gene in human? 159
Microduplication of the ARID1A gene causes intellectual disability with recognizable syndromic features 158
Prognostic Value of Glomerular Collagen IV Immunofluorescence Studies in Male Patients with X-Linked Alport Syndrome 157
A 3 Mb deletion in 14q12 causes severe mental retardation, mild facial dysmorphisms and Rett-like features 157
FACL4, a new gene encoding long-chain acyl-CoA synthetase 4, is deleted in a family with Alport syndrome, elliptocytosis, and mental retardation 156
“Diagnostic and therapeutic tools for X-linked mental retardation syndrome “ 155
The polymorphism L412F in TLR3 inhibits autophagy and is a marker of severe COVID-19 in males 155
Phenotypic spectrum and prevalence of INPP5E mutations in Joubert Syndrome and related disorders 154
RSK2 enzymatic assay as a second level diagnostic tool in Coffin-Lowry syndrome. 153
Shorter androgen receptor polyQ alleles protect against life-threatening COVID-19 disease in European males 152
14q12 Microdeletion syndrome and congenital variant of Rett syndrome 151
Xq28 duplications including MECP2 in five females: Expanding the phenotype to severe mental retardation 150
Oligogenic germline mutations identified in early non-smokers lung adenocarcinoma patients 150
Telethon Network of Genetic Biobanks: a key service for diagnosis and research on rare diseases 149
Expanding the phenotype of 22q11 deletion syndrome: the MURCS association 148
Antiepileptic drugs in Rett Syndrome 147
The phenotype of floating-harbor syndrome: clinical characterization of 52 individuals with mutations in exon 34 of SRCAP. 146
2q24-q31 deletion: report of a case and review of the literature 146
Il gene optineurina (OPTN) non è implicato nel glaucoma primario ad angolo aperto 145
Nicolaides–Baraitser syndrome: defining a phenotype 144
A Bg/II polymorphism in the COL4A6 gene 144
Association in the same patient of autosomal dominant progressive external ophthalmoplegia with multiple mtDNA deletions and X-linked ichthyosis: clinical, biochemical, histological, submicroscopic and molecular genetic study 143
Association between primary open-angle glaucoma (POAG) and WDR36 sequence variance in Italian families affected by POAG. 143
Uncovering recessive likely pathogenic variants, using microdeletion sindrome with unusual phenotypes 143
Copy number variation analysis in adults with catatonia confirms haploinsufficiency of SHANK3 as a predisposing factor 143
Clinical and molecular characterization of Italian patients affected by Cohen syndrome 143
Multiple endocrine neoplasia type 2 syndromes may be associated with renal malformations 141
GluD1 is a common altered player in neuronal differentiation from both MECP2-mutated and CDKL5-mutated iPS cells 141
Totale 18.160
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Categoria #
all - tutte 155.331
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 155.331
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2019/20205.091 0 0 0 0 611 650 710 1.023 723 678 206 490
2020/20216.834 281 622 246 604 390 750 345 898 766 817 587 528
2021/20224.832 422 566 361 385 216 149 219 188 223 541 496 1.066
2022/20237.011 429 605 818 882 676 1.378 286 590 702 174 286 185
2023/20245.516 236 158 562 319 256 1.394 1.681 171 75 157 131 376
2024/20253.355 359 579 1.182 818 417 0 0 0 0 0 0 0
Totale 44.490