IRIS
RESTA, Nicoletta
 Distribuzione geografica
Salva come PNG Salva come JPEG
Continente #
NA - Nord America 12.045
AS - Asia 4.383
EU - Europa 4.331
SA - Sud America 1.147
Continente sconosciuto - Info sul continente non disponibili 569
AF - Africa 270
OC - Oceania 17
Totale 22.762
Salva come PNG Salva come JPEG
Nazione #
US - Stati Uniti d'America 11.678
SG - Singapore 1.837
IT - Italia 1.592
CN - Cina 975
BR - Brasile 902
RU - Federazione Russa 537
SE - Svezia 485
HK - Hong Kong 453
DE - Germania 410
VN - Vietnam 308
FR - Francia 249
FI - Finlandia 238
GB - Regno Unito 228
UA - Ucraina 220
CA - Canada 167
IN - India 162
BD - Bangladesh 151
CI - Costa d'Avorio 116
BE - Belgio 81
AR - Argentina 72
ID - Indonesia 69
IQ - Iraq 64
NL - Olanda 64
TR - Turchia 55
MX - Messico 53
ZA - Sudafrica 52
CO - Colombia 44
JP - Giappone 44
PL - Polonia 44
VE - Venezuela 43
EC - Ecuador 39
ES - Italia 38
UZ - Uzbekistan 36
PK - Pakistan 32
MA - Marocco 26
SA - Arabia Saudita 26
CZ - Repubblica Ceca 24
IE - Irlanda 23
PH - Filippine 23
IL - Israele 21
LT - Lituania 21
AT - Austria 20
CR - Costa Rica 19
JM - Giamaica 18
TN - Tunisia 17
AU - Australia 16
MY - Malesia 16
SV - El Salvador 16
HN - Honduras 15
NI - Nicaragua 15
NP - Nepal 15
TT - Trinidad e Tobago 15
PY - Paraguay 14
GP - Guadalupe 13
GT - Guatemala 13
IR - Iran 12
CL - Cile 11
AE - Emirati Arabi Uniti 10
CW - ???statistics.table.value.countryCode.CW??? 10
UY - Uruguay 10
KE - Kenya 9
KZ - Kazakistan 9
EG - Egitto 8
OM - Oman 8
SC - Seychelles 8
PR - Porto Rico 7
RO - Romania 7
RS - Serbia 7
AZ - Azerbaigian 6
CH - Svizzera 6
ET - Etiopia 6
KG - Kirghizistan 6
KR - Corea 6
PE - Perù 6
AL - Albania 5
JO - Giordania 5
PT - Portogallo 5
SI - Slovenia 5
DK - Danimarca 4
DO - Repubblica Dominicana 4
DZ - Algeria 4
PS - Palestinian Territory 4
AO - Angola 3
BH - Bahrain 3
BO - Bolivia 3
CY - Cipro 3
HU - Ungheria 3
KH - Cambogia 3
KW - Kuwait 3
LY - Libia 3
ME - Montenegro 3
TH - Thailandia 3
XK - ???statistics.table.value.countryCode.XK??? 3
AM - Armenia 2
BB - Barbados 2
BF - Burkina Faso 2
BY - Bielorussia 2
GR - Grecia 2
GY - Guiana 2
HR - Croazia 2
Totale 22.159
Salva come PNG Salva come JPEG
Città #
Ashburn 1.435
Singapore 1.017
Fairfield 974
San Jose 776
Chandler 677
Woodbridge 546
Dallas 522
Hong Kong 450
Milan 444
Houston 438
Jacksonville 410
Seattle 403
Cambridge 370
Nyköping 363
Beijing 324
Wilmington 301
Council Bluffs 295
Ann Arbor 286
New York 232
Bari 194
Los Angeles 178
Lauterbourg 154
Rome 153
Roxbury 145
Lawrence 138
Munich 137
Nanjing 122
Abidjan 116
Helsinki 114
Santa Clara 101
São Paulo 100
Des Moines 99
Boardman 94
Ho Chi Minh City 90
Columbus 71
Brooklyn 70
Inglewood 66
Buffalo 60
Chicago 59
London 56
Princeton 54
Hanoi 52
Moscow 47
San Diego 44
Falkenstein 43
Orem 43
Montreal 42
Dearborn 40
Tokyo 40
Brussels 39
Toronto 39
Jakarta 38
Figino 36
Frankfurt am Main 36
Nuremberg 35
Phoenix 35
Dong Ket 34
Warsaw 32
Johannesburg 30
Shenyang 30
Atlanta 29
Baghdad 29
Leuven 28
Hebei 27
Turin 27
Chennai 26
Denver 26
Tashkent 26
Rio de Janeiro 25
Turku 24
Naples 23
Pune 23
San Francisco 23
Stockholm 23
Dublin 22
Jiaxing 22
Manchester 22
Paris 22
Boston 21
Brasília 20
Brno 19
Changsha 19
Mexico City 19
Nanchang 19
Haiphong 18
Taranto 18
Tianjin 18
Belo Horizonte 17
Caracas 17
Redwood City 17
San José 17
Shanghai 17
Mumbai 16
Zhengzhou 16
Dhaka 15
Managua 15
Quito 15
San Salvador 15
The Dalles 15
Amsterdam 14
Totale 14.193
Salva come PNG Salva come JPEG
Nome #
Sailing Across Contraception, Pregnancy, and Breastfeeding: The Complex Journey of Women with Cardiomyopathies 328
A novel multidisciplinary approach in an LMNA-mutated patient: the importance of considering the overall clinical picture for the early diagnosis 308
Deep Intronic ETFDH Variants Represent a Recurrent Pathogenic Event in Multiple Acyl-CoA Dehydrogenase Deficiency 252
Clinical and functional characterization of a novel mutation in lamin a/C gene in a multigenerational family with arrhythmogenic cardiac laminopathy 246
Accurate classification of NF1 gene variants in 84 Italian patients with neurofibromatosis type 1 236
Loss of STK11 expression is an early event in prostate carcinogenesis and predicts therapeutic response to targeted therapy against MAPK/p38. 217
The longevity SNP rs2802292 uncovered: HSF1 activates stress-dependent expression of FOXO3 through an intronic enhancer. 214
TARGETED NEXT-GENERATION SEQUENCING ANALYSIS OF 1,000 INDIVIDUALS WITH INTELLECTUAL DISABILITY 213
DP71 and SERCA2 alteration in human neurons of a Duchenne muscular dystrophy patient 209
Beyond BRCA1/2: Homologous Recombination Repair Genetic Profile in a Large Cohort of Apulian Ovarian Cancers 198
Nuovi risultati e prospettive nello studio genetico del mesotelioma maligno. 192
636 Genotoxic damage and dna repair gene polymorphisms in workers exposed to low doses of ionising radiation 191
Genotypes and phenotypes heterogeneity in PIK3CA-related overgrowth spectrum and overlapping conditions: 150 novel patients and systematic review of 1007 patients with PIK3CA pathogenetic variants 189
Analysis of telomere dynamics in peripheral blood cells from patients with lynch syndrome 186
Familly with two different cases of post- and pre-natal L1 syndrome; When hydrocephaly become "multidisciplinary headache" 185
Gastric polyposis and desmoid tumours as a new familial adenomatous polyposis clinical variant associated with APC mutation at the extreme 3′-end 185
In vitro efficacy of ARQ 092, an allosteric AKT inhibitor, on primary fibroblast cells derived from patients with PIK3CA-related overgrowth spectrum (PROS) 181
A long diagnostic delay in patients with Hereditary Haemorrhagic Telangiectasia: A questionnaire-based retrospective study 181
The proliferative response of HT-29 human colon adenocarcinoma cells to bombesin-like peptides 179
Stat3-positive tumor cells contribute to vessels neoformation in primary central nervous system lymphoma 178
Cardiac and neuromuscular features of patients with LMNA-related cardiomyopathy 173
Cancer risk associated with STK11/LKB1 germline mutations in Peutz-Jeghers syndrome patients: Results of an Italian multicenter study 171
A Rare Case of Severe Congenital RYR1-Associated Myopathy 170
RUOLO DELLA SUSCETTIBILITÀ GENETICA NELL’INSORGENZA DEL MESOTELIOMA MALIGNO: NUOVE PROSPETTIVE 170
Influence of polymorphisms of DNA repair and GST genes on genotoxic damage and mutagen sensitivity in workers occupationally exposed to very low doses of ionizing radiation 169
Clinical findings in a family with familial adenomatous polyposis and a missense mutation of the adenomatous polyposis coli gene 167
Parallelism of DOG1 expression with recurrence risk in gastrointestinal stromal tumors bearing KIT or PDGFRA mutations 167
Breakpoint determination of 15 large deletions in Peutz-Jeghers subjects 167
An LKB1 AT-AC intron mutation causes Peutz-Jeghers syndrome via splicing at noncanonical cryptic splice sites 166
Germline pathogenic variant in PIK3CA leading to symmetrical overgrowth with marked macrocephaly and mild global developmental delay 166
The first case of congenital myasthenic syndrome caused by a large homozygous deletion in the cterminal region of colq (Collagen like tail subunit of asymmetric acetylcholinesterase) protein 166
Analysis of the LKB1-STRAD-MO25 complex 165
Nine novel APC mutations in Italian FAP patients 164
Association of autoimmune thyroiditis and celiac disease with Juvenile Polyposis due to 10q23.1q23.31 deletion: Potential role of PI3K/Akt pathway dysregulation 163
Beta1-Adrenergic Receptor Polymorphisms Predict Heart Failure Progression in Idiopathic Dilated Cardiomyopathy 160
Primary melanoma of the testis: myth 158
A large interstitial deletion encompassing the amelogenin gene on the short arm of the Y chromosome 157
First evidence of a therapeutic effect of miransertib in a teenager with Proteus syndrome and ovarian carcinoma 153
Two novel cases of compound heterozygous mutations in mitofusin2: Finding out the inheritance 152
A novel genetic variant in the wfs1 gene in a patient with partial uniparental mero‐isodisomy of chromosome 4 151
Y-chromosome haplotypes in Italy: the GEFI collaborative database 150
COQ4 mutations cause a broad spectrum of mitochondrial disorders associated with CoQ10 deficiency 150
A silent mutation in exon 14 of the APC gene is associated with exon skipping in a FAP family 149
Hereditary hemorrhagic telangiectasia: arteriovenous malformations in children. 149
A homozygous frameshift mutation in the ESCO2 gene: evidence of intertissue and interindividual variation in NMD efficiency 146
The Role of Oxidative Stress in the Pathomechanism of Congenital Malformations 146
Allele frequencies of the new European Standard Set (ESS) loci in a population of Apulia (Southern Italy) 145
Left ventricular systolic dysfunction and conduction system disorders: when do you think about cardiolaminopathy? 144
Analisi mutazionale dei geni hMSH2 e hMLH2 in soggetti con cancro colorettale ad insorgenza precoce. 143
Importance of clinical suspicion and multidisciplinary management for early diagnosis of a cardiac laminopathy patient: A case report 143
Molecular and Functional Characterization of Three Different Postzygotic Mutations in PIK3CA-Related Overgrowth Spectrum (PROS) Patients: Effects on PI3K/AKT/mTOR Signaling and Sensitivity to PIK3 Inhibitors 142
Gait disturbance and lower limb pain in a patient with PIK3CA-related disorder 139
A novel LMNA gene mutation in a multigenerational family with arrhythmogenic cardiac laminopathy 136
Bioinformatica applicata alla consulenza genetica 135
Population data for 17 Y-chromosome STRs in a sample from Apulia (Southern Italy) 135
Genomic profiling at a single center cracks the code in inborn errors of immunity 134
The Italian External Quality Control Program for Familial Adenomatous Polyposis of the Colon: Five Years of Experience 134
Missense and Non-Missense Lamin A/C Gene Mutations Are Similarly Associated with Major Arrhythmic Cardiac Events: A 20-Year Single-Centre Experience 132
Novel scn5a p.W697x nonsense mutation segregation in a family with brugada syndrome 132
Functional analysis of LKB1/STK11 mutants and two aberrant isoforms found in Peutz-Jeghers Syndrome patients 131
Identification and surveillance of 19 Lynch syndrome families in southern Italy: report of six novel germline mutations and a common founder mutation 131
Characterization of the rs2802292 SNP identifies FOXO3A as a modifier locus predicting cancer risk in patients with PJS and PHTS hamartomatous polyposis syndromes 131
A new case of Smith-Kingsmore syndrome with somatic MTOR pathogenic variant expands the phenotypic spectrum to lateralized overgrowth 131
Distribution of DYS19, DYS389 I, DYS389 II, DYS390 Alleles in a Southern Italian population sample 129
Impact of High-to-Moderate Penetrance Genes on Genetic Testing: Looking over Breast Cancer 128
Survey of KRAS, BRAF and PIK3CA mutational status in 209 consecutive Italian colorectal cancer patients 128
BRCAmut and "founder effect": A prospective study in a single academic institution 128
SCE frequency measurement could be useful in the prenatal diagnosis of Roberts syndrome 126
De novo unbalanced translocation leading to monosomy 9p24.3p24.1 and trisomy 19q13.42q13.43 characterized by microarray-based comparative genomic hybridization in a child with partial cortical dysplasia and craniofacial dysmorphisms without trigonocephaly. 126
Esiste un’influenza dei polimorfismi dell’enzima epossi-idrolasi microsomiale(mEH) sui marcatori citogenetici di danno genotossico? 126
Phosphatase and Tensin Homolog (PTEN) Gene Mutations and Autism: Literature Review and a Case Report of a Patient With Cowden Syndrome, Autistic Disorder, and Epilepsy 125
Neurofibromatosis type 1 and melanoma of the iris arising from a dysplastic nevus: A rare yet casual association? 125
Autophagy increase in Merosin-Deficient Congenital Muscular Dystrophy type 1A 124
Trisomy 13 mosaicism in a phenotypically normal child: description of cytogenetic and clinical findings from early pregnancy beyond 2 years of age 124
LOSS OF LKB1 EXPRESSION IS AN EARLY MOLECULAR EVENT IN PROSTATE CARCINOGENESIS 124
DHPLC-based mutation analysis of ENG and ALK-1 genes in HHT Italian population 123
Cyclin E and chromosome instability in colorectal cancer cell lines 122
EXCLUSION OF THE APC GENE AS THE CAUSE OF A VARIANT FORM OF FAMILIAL ADENOMATOUS POLYPOSIS (FAP) 122
Old treatments for new genetic conditions: Sirolimus therapy in a child affected by mosaic overgrowth with fibroadipose hyperplasia 121
Functional evidence of mTORβ splice variant involvement in the pathogenesis of congenital heart defects 121
Sigma-2 Receptor Ligand Binding Modulates Association between TSPO and TMEM97 120
Clinical presentation and genetic analyses of neurofibromatosis type 1 in independent patients with monoallelic double de novo closely spaced mutations in the NF1 gene 120
FAMILIAL ADENOMATOUS POLYPOSIS - IDENTIFICATION OF A NEW FRAMESHIFT MUTATION OF THE APC GENE IN AN ITALIAN FAMILY 120
Caratterizzazione di geni coinvolti nei processi di trasformazione neoplastica. 120
Infertility in carriers of two bisatellited marker chromosomes 119
A prospective multicentric study of risk-reducing salpingo-oophorectomy in BRCA mutation patients 116
The recurrent SETBP1 c.2608G > A, p.(Gly870Ser) variant in a patient with Schinzel-Giedion syndrome: an illustrative case of the utility of whole exome sequencing in a critically ill neonate 116
Allele frequencies of the new European Standard Set (ESS) loci in a population of Apulia (Southern Italy) 114
Distribution of DYS391, DYS392, DYS393, DYS385, alleles in a southern Italian population sample 113
Randomized controlled trial of bromelain and alpha-lipoic acid in breast conservative surgery 112
The association of adrenocortical carcinoma and thyroid cancer in a child with Peutz-Jeghers syndrome 111
Genetic and clinical features of Familial Mediterranean Fever (FMF) in a homogeneous cohort of patients from south-eastern Italy 110
Next generation sequencing of SARS-CoV-2 genomes: challenges, applications and opportunities 110
Pro-inflammatory cytokines as emerging molecular determinants in cardiolaminopathies 110
Disease expression in juvenile polyposis syndrome: a retrospective survey on a cohort of 221 European patients and comparison with a literature-derived cohort of 473 SMAD4/BMPR1A pathogenic variant carriers 108
Lateralized overgrowth with vascular malformation caused by a somatic PTPN11 pathogenic variant: another piece added to the puzzle of mosaic RASopathies 107
First report of whole CFTR gene duplication in a healthy newborn carrying R74W and V855I variants on the same allele 107
Una nuova mutazione di PTEN nella malattia di Cowden 107
Distribution of HumvWA31, HumFESFPS, HumTH01, HumTPOX, HumCD4, HumCSF1PO alleles in a southern Italian population sample 107
Ganglioma arising in a Peutz-Jeghers patient:a case report with molecular implications 107
Totale 15.127
Salva come PNG Salva come JPEG
Categoria #
all - tutte 93.790
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 93.790
Salva come PNG Salva come JPEG


Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2021/2022852 0 0 0 0 34 86 75 60 60 95 201 241
2022/20231.822 237 215 121 143 190 268 27 216 315 20 47 23
2023/2024662 39 122 28 63 89 160 15 26 16 12 16 76
2024/20253.065 107 29 226 104 117 257 383 303 119 142 429 849
2025/20268.059 953 373 933 854 858 422 761 243 772 812 264 814
2026/20272.615 358 441 699 986 131 0 0 0 0 0 0 0
Totale 22.762