IRIS
RESTA, Nicoletta
 Distribuzione geografica
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Continente #
NA - Nord America 8.559
AS - Asia 3.460
EU - Europa 2.839
SA - Sud America 884
AF - Africa 183
Continente sconosciuto - Info sul continente non disponibili 5
OC - Oceania 3
Totale 15.933
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Nazione #
US - Stati Uniti d'America 8.434
SG - Singapore 1.583
CN - Cina 842
BR - Brasile 783
IT - Italia 565
RU - Federazione Russa 508
SE - Svezia 480
HK - Hong Kong 423
DE - Germania 355
VN - Vietnam 257
UA - Ucraina 211
FI - Finlandia 198
GB - Regno Unito 181
CI - Costa d'Avorio 117
IN - India 86
FR - Francia 79
CA - Canada 72
BE - Belgio 52
ID - Indonesia 49
BD - Bangladesh 44
NL - Olanda 42
AR - Argentina 37
MX - Messico 35
PL - Polonia 35
IQ - Iraq 31
ZA - Sudafrica 31
ES - Italia 27
TR - Turchia 24
CZ - Repubblica Ceca 23
JP - Giappone 23
AT - Austria 20
IE - Irlanda 20
EC - Ecuador 18
UZ - Uzbekistan 16
VE - Venezuela 14
IR - Iran 12
LT - Lituania 12
MA - Marocco 10
PY - Paraguay 9
CO - Colombia 8
NP - Nepal 8
SA - Arabia Saudita 7
JM - Giamaica 6
KR - Corea 6
RO - Romania 6
AZ - Azerbaigian 5
IL - Israele 5
KZ - Kazakistan 5
PK - Pakistan 5
TN - Tunisia 5
UY - Uruguay 5
AE - Emirati Arabi Uniti 4
CL - Cile 4
HN - Honduras 4
KE - Kenya 4
PE - Perù 4
XK - ???statistics.table.value.countryCode.XK??? 4
AL - Albania 3
BH - Bahrain 3
ET - Etiopia 3
JO - Giordania 3
RS - Serbia 3
AU - Australia 2
BY - Bielorussia 2
CH - Svizzera 2
DK - Danimarca 2
DO - Repubblica Dominicana 2
DZ - Algeria 2
EG - Egitto 2
GY - Guiana 2
HU - Ungheria 2
KG - Kirghizistan 2
LB - Libano 2
ME - Montenegro 2
MY - Malesia 2
NI - Nicaragua 2
OM - Oman 2
PH - Filippine 2
PT - Portogallo 2
SI - Slovenia 2
TH - Thailandia 2
BA - Bosnia-Erzegovina 1
BF - Burkina Faso 1
BG - Bulgaria 1
BW - Botswana 1
CR - Costa Rica 1
CV - Capo Verde 1
CW - ???statistics.table.value.countryCode.CW??? 1
EE - Estonia 1
GA - Gabon 1
GM - Gambi 1
GR - Grecia 1
HT - Haiti 1
KH - Cambogia 1
LK - Sri Lanka 1
MK - Macedonia 1
MN - Mongolia 1
MU - Mauritius 1
PR - Porto Rico 1
PS - Palestinian Territory 1
Totale 15.925
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Città #
Fairfield 974
Ashburn 947
Singapore 845
Chandler 677
Woodbridge 544
Dallas 494
Houston 424
Hong Kong 422
Jacksonville 408
Seattle 400
Cambridge 369
Nyköping 363
Beijing 304
Wilmington 297
Ann Arbor 286
Bari 182
New York 164
Roxbury 145
Lawrence 139
Munich 136
Los Angeles 123
Nanjing 122
Abidjan 117
Des Moines 97
Ho Chi Minh City 81
Helsinki 74
São Paulo 72
Inglewood 66
Brooklyn 65
Boardman 62
Princeton 55
Buffalo 48
Moscow 45
London 44
Hanoi 42
Dearborn 40
San Diego 40
Brussels 38
Rome 38
Jakarta 37
Santa Clara 37
Dong Ket 34
Nuremberg 34
Shenyang 30
Chicago 28
Montreal 28
Warsaw 28
Hebei 27
Turku 24
Jiaxing 22
Orem 22
Pune 22
Johannesburg 21
Tokyo 21
Toronto 21
Dublin 20
Paris 20
Rio de Janeiro 20
Stockholm 20
Brno 19
Chennai 19
Council Bluffs 19
Frankfurt am Main 19
Nanchang 19
San Francisco 19
Manchester 18
Milan 18
Tianjin 18
Boston 17
Redwood City 17
Baghdad 16
Brasília 16
Changsha 16
Denver 16
Mexico City 16
Phoenix 16
Zhengzhou 16
Atlanta 15
Ankara 14
Belo Horizonte 14
Falkenstein 14
Guangzhou 14
Haiphong 14
San Jose 14
Taranto 14
Waanrode 14
Columbus 12
Dhaka 12
Guarulhos 12
Shanghai 12
The Dalles 12
Campinas 11
Mumbai 11
Norwalk 11
Poplar 11
Salvador 11
Tashkent 11
Indianapolis 10
Salt Lake City 10
Vienna 10
Totale 10.902
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Nome #
Sailing Across Contraception, Pregnancy, and Breastfeeding: The Complex Journey of Women with Cardiomyopathies 290
A novel multidisciplinary approach in an LMNA-mutated patient: the importance of considering the overall clinical picture for the early diagnosis 251
Accurate classification of NF1 gene variants in 84 Italian patients with neurofibromatosis type 1 189
Loss of STK11 expression is an early event in prostate carcinogenesis and predicts therapeutic response to targeted therapy against MAPK/p38. 185
Clinical and functional characterization of a novel mutation in lamin a/C gene in a multigenerational family with arrhythmogenic cardiac laminopathy 177
DP71 and SERCA2 alteration in human neurons of a Duchenne muscular dystrophy patient 173
636 Genotoxic damage and dna repair gene polymorphisms in workers exposed to low doses of ionising radiation 171
In vitro efficacy of ARQ 092, an allosteric AKT inhibitor, on primary fibroblast cells derived from patients with PIK3CA-related overgrowth spectrum (PROS) 155
The proliferative response of HT-29 human colon adenocarcinoma cells to bombesin-like peptides 154
Stat3-positive tumor cells contribute to vessels neoformation in primary central nervous system lymphoma 148
Nuovi risultati e prospettive nello studio genetico del mesotelioma maligno. 147
Gastric polyposis and desmoid tumours as a new familial adenomatous polyposis clinical variant associated with APC mutation at the extreme 3′-end 145
Analysis of telomere dynamics in peripheral blood cells from patients with lynch syndrome 144
Cardiac and neuromuscular features of patients with LMNA-related cardiomyopathy 142
Parallelism of DOG1 expression with recurrence risk in gastrointestinal stromal tumors bearing KIT or PDGFRA mutations 141
Familly with two different cases of post- and pre-natal L1 syndrome; When hydrocephaly become "multidisciplinary headache" 141
A Rare Case of Severe Congenital RYR1-Associated Myopathy 140
Breakpoint determination of 15 large deletions in Peutz-Jeghers subjects 139
Clinical findings in a family with familial adenomatous polyposis and a missense mutation of the adenomatous polyposis coli gene 138
Analysis of the LKB1-STRAD-MO25 complex 137
A large interstitial deletion encompassing the amelogenin gene on the short arm of the Y chromosome 137
Cancer risk associated with STK11/LKB1 germline mutations in Peutz-Jeghers syndrome patients: Results of an Italian multicenter study 137
An LKB1 AT-AC intron mutation causes Peutz-Jeghers syndrome via splicing at noncanonical cryptic splice sites 135
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 135
Association of autoimmune thyroiditis and celiac disease with Juvenile Polyposis due to 10q23.1q23.31 deletion: Potential role of PI3K/Akt pathway dysregulation 131
A long diagnostic delay in patients with Hereditary Haemorrhagic Telangiectasia: A questionnaire-based retrospective study 131
Beta1-Adrenergic Receptor Polymorphisms Predict Heart Failure Progression in Idiopathic Dilated Cardiomyopathy 127
Allele frequencies of the new European Standard Set (ESS) loci in a population of Apulia (Southern Italy) 125
Beyond BRCA1/2: Homologous Recombination Repair Genetic Profile in a Large Cohort of Apulian Ovarian Cancers 125
Two novel cases of compound heterozygous mutations in mitofusin2: Finding out the inheritance 124
Germline pathogenic variant in PIK3CA leading to symmetrical overgrowth with marked macrocephaly and mild global developmental delay 124
Nine novel APC mutations in Italian FAP patients 122
Y-chromosome haplotypes in Italy: the GEFI collaborative database 121
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 121
Primary melanoma of the testis: myth 120
A homozygous frameshift mutation in the ESCO2 gene: evidence of intertissue and interindividual variation in NMD efficiency 119
Hereditary hemorrhagic telangiectasia: arteriovenous malformations in children. 119
COQ4 mutations cause a broad spectrum of mitochondrial disorders associated with CoQ10 deficiency 119
The Role of Oxidative Stress in the Pathomechanism of Congenital Malformations 119
A silent mutation in exon 14 of the APC gene is associated with exon skipping in a FAP family 117
Population data for 17 Y-chromosome STRs in a sample from Apulia (Southern Italy) 113
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 113
First evidence of a therapeutic effect of miransertib in a teenager with Proteus syndrome and ovarian carcinoma 109
SCE frequency measurement could be useful in the prenatal diagnosis of Roberts syndrome 108
Functional analysis of LKB1/STK11 mutants and two aberrant isoforms found in Peutz-Jeghers Syndrome patients 108
TARGETED NEXT-GENERATION SEQUENCING ANALYSIS OF 1,000 INDIVIDUALS WITH INTELLECTUAL DISABILITY 108
DHPLC-based mutation analysis of ENG and ALK-1 genes in HHT Italian population 106
The Italian External Quality Control Program for Familial Adenomatous Polyposis of the Colon: Five Years of Experience 105
Left ventricular systolic dysfunction and conduction system disorders: when do you think about cardiolaminopathy? 105
Identification and surveillance of 19 Lynch syndrome families in southern Italy: report of six novel germline mutations and a common founder mutation 105
Trisomy 13 mosaicism in a phenotypically normal child: description of cytogenetic and clinical findings from early pregnancy beyond 2 years of age 104
FAMILIAL ADENOMATOUS POLYPOSIS - IDENTIFICATION OF A NEW FRAMESHIFT MUTATION OF THE APC GENE IN AN ITALIAN FAMILY 104
Distribution of DYS19, DYS389 I, DYS389 II, DYS390 Alleles in a Southern Italian population sample 103
The longevity SNP rs2802292 uncovered: HSF1 activates stress-dependent expression of FOXO3 through an intronic enhancer. 103
RUOLO DELLA SUSCETTIBILITÀ GENETICA NELL’INSORGENZA DEL MESOTELIOMA MALIGNO: NUOVE PROSPETTIVE 103
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 102
Gait disturbance and lower limb pain in a patient with PIK3CA-related disorder 102
Novel scn5a p.W697x nonsense mutation segregation in a family with brugada syndrome 102
Infertility in carriers of two bisatellited marker chromosomes 101
Survey of KRAS, BRAF and PIK3CA mutational status in 209 consecutive Italian colorectal cancer patients 101
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. 101
Importance of clinical suspicion and multidisciplinary management for early diagnosis of a cardiac laminopathy patient: A case report 101
Cyclin E and chromosome instability in colorectal cancer cell lines 100
BRCAmut and "founder effect": A prospective study in a single academic institution 95
Old treatments for new genetic conditions: Sirolimus therapy in a child affected by mosaic overgrowth with fibroadipose hyperplasia 95
Analisi mutazionale dei geni hMSH2 e hMLH2 in soggetti con cancro colorettale ad insorgenza precoce. 94
Four novel mutations of the APC (adenomatous polyposis coli) gene in FAP patients 94
Distribution of DYS391, DYS392, DYS393, DYS385, alleles in a southern Italian population sample 93
The association of adrenocortical carcinoma and thyroid cancer in a child with Peutz-Jeghers syndrome 91
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 91
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 90
EXCLUSION OF THE APC GENE AS THE CAUSE OF A VARIANT FORM OF FAMILIAL ADENOMATOUS POLYPOSIS (FAP) 89
Caratterizzazione di geni coinvolti nei processi di trasformazione neoplastica. 89
Endoglin gene mutations and polymorphisms in Italian patients with hereditary haemorrhagic telangiectasia 88
Characterization of the rs2802292 SNP identifies FOXO3A as a modifier locus predicting cancer risk in patients with PJS and PHTS hamartomatous polyposis syndromes 86
A novel genetic variant in the wfs1 gene in a patient with partial uniparental mero‐isodisomy of chromosome 4 86
A prospective multicentric study of risk-reducing salpingo-oophorectomy in BRCA mutation patients 85
Chromosomal microarray (CMA) analysis in infants with congenital anomalies: when is it really helpful? 85
A novel LMNA gene mutation in a multigenerational family with arrhythmogenic cardiac laminopathy 85
Bioinformatica applicata alla consulenza genetica 84
Allele frequencies of the new European Standard Set (ESS) loci in a population of Apulia (Southern Italy) 84
The molecular characterization of a depurinated trial DNA sample can be a model to understand the reliability of the results in forensic genetics 84
Una nuova mutazione di PTEN nella malattia di Cowden 83
A new case of Smith-Kingsmore syndrome with somatic MTOR pathogenic variant expands the phenotypic spectrum to lateralized overgrowth 83
Distribution of HumvWA31, HumFESFPS, HumTH01, HumTPOX, HumCD4, HumCSF1PO alleles in a southern Italian population sample 82
Clinical findings in a family with FAP and a missense mutation of APC gene 82
Neurofibromatosis type 1 and melanoma of the iris arising from a dysplastic nevus: A rare yet casual association? 82
Pro-inflammatory cytokines as emerging molecular determinants in cardiolaminopathies 82
The 2011 GeFI collaborative exercise. Concordance study, proficiency testing and Italian population data on the new ENFSI/EDNAP loci D1S1656, D2S441, D10S1248, D12S391, D22S1045. 81
Limb hypertrophy: A skin vascular malformation and bilateral hydroureteronephrosis in a neonate 81
Correspondence on “Clinical spectrum of MTOR-related hypomelanosis of Ito with neurodevelopmental abnormalities,” by Carmignac et al 81
Clinical presentation and genetic analyses of neurofibromatosis type 1 in independent patients with monoallelic double de novo closely spaced mutations in the NF1 gene 80
Molecular and clinical characteristics in 46 families affected with peutz-jeghers syndrome 80
null 80
Autophagy increase in Merosin-Deficient Congenital Muscular Dystrophy type 1A 79
Tumor suppressor LKB1 inhibits activation of signal transducer and activator of transcription 3 (STAT3) by thyroid oncogenic tyrosine kinase rearranged in transformation (RET)/papillary thyroid carcinoma (PTC) 79
The familial adenomatous polyposis region exhibits many different haplotypes 78
The DOG1 scoring system in GIST: a novel factor for measurement of the recurrence risk 78
Functional evidence of mTORβ splice variant involvement in the pathogenesis of congenital heart defects 78
Association of β-adrenergic receptor polymorphisms and progression to heart failure in patients with idiopathic dilated cardiomyopathy 76
Totale 11.355
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Categoria #
all - tutte 74.785
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 74.785
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2020/20211.034 0 0 0 0 0 81 204 140 150 221 120 118
2021/20221.139 89 142 24 32 34 86 75 60 60 95 201 241
2022/20231.824 239 215 121 143 190 268 27 216 315 20 47 23
2023/2024662 39 122 28 63 89 160 15 26 16 12 16 76
2024/20253.093 107 29 227 104 117 258 384 305 121 143 435 863
2025/20264.366 964 377 940 870 866 349 0 0 0 0 0 0
Totale 16.484