IRIS
RESTA, Nicoletta
 Distribuzione geografica
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Continente #
NA - Nord America 9.818
AS - Asia 4.290
EU - Europa 3.413
SA - Sud America 1.092
AF - Africa 261
OC - Oceania 16
Continente sconosciuto - Info sul continente non disponibili 4
Totale 18.894
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Nazione #
US - Stati Uniti d'America 9.641
SG - Singapore 1.828
CN - Cina 965
BR - Brasile 865
IT - Italia 754
RU - Federazione Russa 526
SE - Svezia 483
HK - Hong Kong 449
DE - Germania 403
VN - Vietnam 306
FR - Francia 243
FI - Finlandia 238
UA - Ucraina 216
GB - Regno Unito 207
IN - India 162
CI - Costa d'Avorio 116
BD - Bangladesh 112
CA - Canada 93
BE - Belgio 81
AR - Argentina 68
ID - Indonesia 67
IQ - Iraq 64
NL - Olanda 54
ZA - Sudafrica 52
TR - Turchia 51
MX - Messico 48
JP - Giappone 43
PL - Polonia 42
VE - Venezuela 41
CO - Colombia 36
UZ - Uzbekistan 36
EC - Ecuador 35
ES - Italia 33
PK - Pakistan 30
MA - Marocco 26
SA - Arabia Saudita 26
CZ - Repubblica Ceca 24
IE - Irlanda 23
PH - Filippine 22
AT - Austria 20
TN - Tunisia 17
AU - Australia 15
MY - Malesia 15
NP - Nepal 15
PY - Paraguay 14
JM - Giamaica 13
IR - Iran 12
LT - Lituania 12
CL - Cile 11
UY - Uruguay 10
AE - Emirati Arabi Uniti 9
KE - Kenya 9
KZ - Kazakistan 9
EG - Egitto 8
OM - Oman 8
IL - Israele 7
RO - Romania 7
AZ - Azerbaigian 6
CH - Svizzera 6
ET - Etiopia 6
KR - Corea 6
PE - Perù 6
RS - Serbia 6
AL - Albania 5
JO - Giordania 5
KG - Kirghizistan 5
PT - Portogallo 5
SI - Slovenia 5
CR - Costa Rica 4
DO - Repubblica Dominicana 4
DZ - Algeria 4
HN - Honduras 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
NI - Nicaragua 3
TH - Thailandia 3
XK - ???statistics.table.value.countryCode.XK??? 3
BF - Burkina Faso 2
BY - Bielorussia 2
DK - Danimarca 2
GR - Grecia 2
GY - Guiana 2
HR - Croazia 2
LB - Libano 2
MN - Mongolia 2
MU - Mauritius 2
PA - Panama 2
QA - Qatar 2
RE - Reunion 2
SN - Senegal 2
SY - Repubblica araba siriana 2
TJ - Tagikistan 2
Totale 18.867
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Città #
Ashburn 1.060
Singapore 1.012
Fairfield 974
Chandler 677
Woodbridge 544
San Jose 510
Dallas 501
Hong Kong 447
Houston 428
Jacksonville 410
Seattle 400
Cambridge 369
Nyköping 363
Beijing 321
Wilmington 297
Ann Arbor 286
New York 209
Bari 188
Lauterbourg 154
Los Angeles 145
Roxbury 145
Lawrence 138
Munich 137
Nanjing 122
Abidjan 116
Helsinki 114
Council Bluffs 104
Des Moines 98
Boardman 91
Ho Chi Minh City 89
São Paulo 79
Brooklyn 68
Inglewood 66
Santa Clara 66
Buffalo 55
Princeton 54
Hanoi 52
London 52
Moscow 47
Falkenstein 43
Rome 43
Orem 41
Dearborn 40
San Diego 40
Tokyo 40
Brussels 39
Chicago 38
Jakarta 38
Frankfurt am Main 36
Nuremberg 35
Dong Ket 34
Montreal 33
Warsaw 31
Johannesburg 30
Milan 30
Shenyang 30
Baghdad 29
Leuven 28
Hebei 27
Chennai 26
Tashkent 26
Toronto 26
Turku 24
Pune 23
Rio de Janeiro 23
Stockholm 23
Atlanta 22
Dublin 22
Jiaxing 22
Manchester 22
Paris 22
Denver 20
Boston 19
Brno 19
Changsha 19
Nanchang 19
Phoenix 19
San Francisco 19
Brasília 18
Haiphong 18
Tianjin 18
Belo Horizonte 17
Caracas 17
Mexico City 17
Redwood City 17
Shanghai 17
Mumbai 16
Zhengzhou 16
Columbus 15
Dhaka 15
Guangzhou 14
Guarulhos 14
Quito 14
Taranto 14
The Dalles 14
Waanrode 14
Ankara 13
Amsterdam 12
Campinas 12
Medellín 12
Totale 12.442
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Nome #
Sailing Across Contraception, Pregnancy, and Breastfeeding: The Complex Journey of Women with Cardiomyopathies 313
A novel multidisciplinary approach in an LMNA-mutated patient: the importance of considering the overall clinical picture for the early diagnosis 274
Clinical and functional characterization of a novel mutation in lamin a/C gene in a multigenerational family with arrhythmogenic cardiac laminopathy 225
Accurate classification of NF1 gene variants in 84 Italian patients with neurofibromatosis type 1 214
Loss of STK11 expression is an early event in prostate carcinogenesis and predicts therapeutic response to targeted therapy against MAPK/p38. 203
DP71 and SERCA2 alteration in human neurons of a Duchenne muscular dystrophy patient 196
636 Genotoxic damage and dna repair gene polymorphisms in workers exposed to low doses of ionising radiation 185
Analysis of telomere dynamics in peripheral blood cells from patients with lynch syndrome 174
In vitro efficacy of ARQ 092, an allosteric AKT inhibitor, on primary fibroblast cells derived from patients with PIK3CA-related overgrowth spectrum (PROS) 171
The proliferative response of HT-29 human colon adenocarcinoma cells to bombesin-like peptides 168
Nuovi risultati e prospettive nello studio genetico del mesotelioma maligno. 165
Beyond BRCA1/2: Homologous Recombination Repair Genetic Profile in a Large Cohort of Apulian Ovarian Cancers 165
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 165
Stat3-positive tumor cells contribute to vessels neoformation in primary central nervous system lymphoma 163
Gastric polyposis and desmoid tumours as a new familial adenomatous polyposis clinical variant associated with APC mutation at the extreme 3′-end 163
Cardiac and neuromuscular features of patients with LMNA-related cardiomyopathy 163
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 162
Familly with two different cases of post- and pre-natal L1 syndrome; When hydrocephaly become "multidisciplinary headache" 159
A Rare Case of Severe Congenital RYR1-Associated Myopathy 158
TARGETED NEXT-GENERATION SEQUENCING ANALYSIS OF 1,000 INDIVIDUALS WITH INTELLECTUAL DISABILITY 157
Germline pathogenic variant in PIK3CA leading to symmetrical overgrowth with marked macrocephaly and mild global developmental delay 157
Cancer risk associated with STK11/LKB1 germline mutations in Peutz-Jeghers syndrome patients: Results of an Italian multicenter study 155
Parallelism of DOG1 expression with recurrence risk in gastrointestinal stromal tumors bearing KIT or PDGFRA mutations 154
A long diagnostic delay in patients with Hereditary Haemorrhagic Telangiectasia: A questionnaire-based retrospective study 154
Analysis of the LKB1-STRAD-MO25 complex 152
Breakpoint determination of 15 large deletions in Peutz-Jeghers subjects 152
A large interstitial deletion encompassing the amelogenin gene on the short arm of the Y chromosome 152
Clinical findings in a family with familial adenomatous polyposis and a missense mutation of the adenomatous polyposis coli gene 151
An LKB1 AT-AC intron mutation causes Peutz-Jeghers syndrome via splicing at noncanonical cryptic splice sites 150
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 147
Beta1-Adrenergic Receptor Polymorphisms Predict Heart Failure Progression in Idiopathic Dilated Cardiomyopathy 145
Primary melanoma of the testis: myth 143
Association of autoimmune thyroiditis and celiac disease with Juvenile Polyposis due to 10q23.1q23.31 deletion: Potential role of PI3K/Akt pathway dysregulation 142
COQ4 mutations cause a broad spectrum of mitochondrial disorders associated with CoQ10 deficiency 140
Two novel cases of compound heterozygous mutations in mitofusin2: Finding out the inheritance 139
A homozygous frameshift mutation in the ESCO2 gene: evidence of intertissue and interindividual variation in NMD efficiency 137
Allele frequencies of the new European Standard Set (ESS) loci in a population of Apulia (Southern Italy) 136
Nine novel APC mutations in Italian FAP patients 135
Hereditary hemorrhagic telangiectasia: arteriovenous malformations in children. 135
The Role of Oxidative Stress in the Pathomechanism of Congenital Malformations 135
A silent mutation in exon 14 of the APC gene is associated with exon skipping in a FAP family 132
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 131
Importance of clinical suspicion and multidisciplinary management for early diagnosis of a cardiac laminopathy patient: A case report 131
RUOLO DELLA SUSCETTIBILITÀ GENETICA NELL’INSORGENZA DEL MESOTELIOMA MALIGNO: NUOVE PROSPETTIVE 129
Y-chromosome haplotypes in Italy: the GEFI collaborative database 128
First evidence of a therapeutic effect of miransertib in a teenager with Proteus syndrome and ovarian carcinoma 123
The Italian External Quality Control Program for Familial Adenomatous Polyposis of the Colon: Five Years of Experience 122
The longevity SNP rs2802292 uncovered: HSF1 activates stress-dependent expression of FOXO3 through an intronic enhancer. 122
Population data for 17 Y-chromosome STRs in a sample from Apulia (Southern Italy) 122
Gait disturbance and lower limb pain in a patient with PIK3CA-related disorder 119
Functional analysis of LKB1/STK11 mutants and two aberrant isoforms found in Peutz-Jeghers Syndrome patients 117
Deep Intronic ETFDH Variants Represent a Recurrent Pathogenic Event in Multiple Acyl-CoA Dehydrogenase Deficiency 117
Left ventricular systolic dysfunction and conduction system disorders: when do you think about cardiolaminopathy? 116
Novel scn5a p.W697x nonsense mutation segregation in a family with brugada syndrome 116
SCE frequency measurement could be useful in the prenatal diagnosis of Roberts syndrome 115
DHPLC-based mutation analysis of ENG and ALK-1 genes in HHT Italian population 115
Identification and surveillance of 19 Lynch syndrome families in southern Italy: report of six novel germline mutations and a common founder mutation 115
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 114
FAMILIAL ADENOMATOUS POLYPOSIS - IDENTIFICATION OF A NEW FRAMESHIFT MUTATION OF THE APC GENE IN AN ITALIAN FAMILY 113
BRCAmut and "founder effect": A prospective study in a single academic institution 113
Neurofibromatosis type 1 and melanoma of the iris arising from a dysplastic nevus: A rare yet casual association? 113
Old treatments for new genetic conditions: Sirolimus therapy in a child affected by mosaic overgrowth with fibroadipose hyperplasia 113
Distribution of DYS19, DYS389 I, DYS389 II, DYS390 Alleles in a Southern Italian population sample 112
Trisomy 13 mosaicism in a phenotypically normal child: description of cytogenetic and clinical findings from early pregnancy beyond 2 years of age 112
Survey of KRAS, BRAF and PIK3CA mutational status in 209 consecutive Italian colorectal cancer patients 112
A new case of Smith-Kingsmore syndrome with somatic MTOR pathogenic variant expands the phenotypic spectrum to lateralized overgrowth 112
Infertility in carriers of two bisatellited marker chromosomes 111
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. 111
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 110
Autophagy increase in Merosin-Deficient Congenital Muscular Dystrophy type 1A 108
A novel genetic variant in the wfs1 gene in a patient with partial uniparental mero‐isodisomy of chromosome 4 108
Cyclin E and chromosome instability in colorectal cancer cell lines 106
Analisi mutazionale dei geni hMSH2 e hMLH2 in soggetti con cancro colorettale ad insorgenza precoce. 106
Pro-inflammatory cytokines as emerging molecular determinants in cardiolaminopathies 106
Characterization of the rs2802292 SNP identifies FOXO3A as a modifier locus predicting cancer risk in patients with PJS and PHTS hamartomatous polyposis syndromes 104
Functional evidence of mTORβ splice variant involvement in the pathogenesis of congenital heart defects 104
Missense and Non-Missense Lamin A/C Gene Mutations Are Similarly Associated with Major Arrhythmic Cardiac Events: A 20-Year Single-Centre Experience 103
A novel LMNA gene mutation in a multigenerational family with arrhythmogenic cardiac laminopathy 103
A prospective multicentric study of risk-reducing salpingo-oophorectomy in BRCA mutation patients 102
Esiste un’influenza dei polimorfismi dell’enzima epossi-idrolasi microsomiale(mEH) sui marcatori citogenetici di danno genotossico? 102
Caratterizzazione di geni coinvolti nei processi di trasformazione neoplastica. 102
Clinical presentation and genetic analyses of neurofibromatosis type 1 in independent patients with monoallelic double de novo closely spaced mutations in the NF1 gene 101
Distribution of DYS391, DYS392, DYS393, DYS385, alleles in a southern Italian population sample 101
EXCLUSION OF THE APC GENE AS THE CAUSE OF A VARIANT FORM OF FAMILIAL ADENOMATOUS POLYPOSIS (FAP) 100
Allele frequencies of the new European Standard Set (ESS) loci in a population of Apulia (Southern Italy) 100
Four novel mutations of the APC (adenomatous polyposis coli) gene in FAP patients 99
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 99
Impact of High-to-Moderate Penetrance Genes on Genetic Testing: Looking over Breast Cancer 98
Bioinformatica applicata alla consulenza genetica 98
The association of adrenocortical carcinoma and thyroid cancer in a child with Peutz-Jeghers syndrome 97
Genetic and clinical features of Familial Mediterranean Fever (FMF) in a homogeneous cohort of patients from south-eastern Italy 96
Endoglin gene mutations and polymorphisms in Italian patients with hereditary haemorrhagic telangiectasia 94
Genomic profiling at a single center cracks the code in inborn errors of immunity 93
The molecular characterization of a depurinated trial DNA sample can be a model to understand the reliability of the results in forensic genetics 93
Sigma-2 Receptor Ligand Binding Modulates Association between TSPO and TMEM97 92
Una nuova mutazione di PTEN nella malattia di Cowden 92
Chromosomal microarray (CMA) analysis in infants with congenital anomalies: when is it really helpful? 91
The 2011 GeFI collaborative exercise. Concordance study, proficiency testing and Italian population data on the new ENFSI/EDNAP loci D1S1656, D2S441, D10S1248, D12S391, D22S1045. 91
Molecular and clinical characteristics in 46 families affected with peutz-jeghers syndrome 91
Correspondence on “Clinical spectrum of MTOR-related hypomelanosis of Ito with neurodevelopmental abnormalities,” by Carmignac et al 91
Totale 13.141
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Categoria #
all - tutte 82.195
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 82.195
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2020/2021118 0 0 0 0 0 0 0 0 0 0 0 118
2021/20221.139 89 142 24 32 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
2025/20267.358 953 373 933 854 858 422 761 243 772 812 264 113
Totale 19.446