IRIS
RESTA, Nicoletta
 Distribuzione geografica
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Continente #
NA - Nord America 10.710
AS - Asia 4.358
EU - Europa 4.160
SA - Sud America 1.126
Continente sconosciuto - Info sul continente non disponibili 561
AF - Africa 261
OC - Oceania 17
Totale 21.193
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Nazione #
US - Stati Uniti d'America 10.500
SG - Singapore 1.835
IT - Italia 1.483
CN - Cina 971
BR - Brasile 881
RU - Federazione Russa 526
SE - Svezia 484
HK - Hong Kong 453
DE - Germania 404
VN - Vietnam 307
FR - Francia 245
FI - Finlandia 238
UA - Ucraina 216
GB - Regno Unito 213
IN - India 162
BD - Bangladesh 151
CI - Costa d'Avorio 116
CA - Canada 104
BE - Belgio 81
AR - Argentina 72
ID - Indonesia 69
IQ - Iraq 64
NL - Olanda 58
MX - Messico 53
TR - Turchia 53
ZA - Sudafrica 52
CO - Colombia 44
JP - Giappone 44
PL - Polonia 44
VE - Venezuela 43
EC - Ecuador 39
UZ - Uzbekistan 36
ES - Italia 34
PK - Pakistan 32
MA - Marocco 26
SA - Arabia Saudita 26
CZ - Repubblica Ceca 24
IE - Irlanda 23
PH - Filippine 23
AT - Austria 20
TN - Tunisia 17
AU - Australia 16
MY - Malesia 16
JM - Giamaica 15
NP - Nepal 15
PY - Paraguay 14
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
RS - Serbia 7
AZ - Azerbaigian 6
CH - Svizzera 6
ET - Etiopia 6
KG - Kirghizistan 6
KR - Corea 6
NI - Nicaragua 6
PE - Perù 6
AL - Albania 5
CR - Costa Rica 5
JO - Giordania 5
PT - Portogallo 5
SI - Slovenia 5
DO - Repubblica Dominicana 4
DZ - Algeria 4
GT - Guatemala 4
HN - Honduras 4
PS - Palestinian Territory 4
TT - Trinidad e Tobago 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
BB - Barbados 2
BF - Burkina Faso 2
BY - Bielorussia 2
CW - ???statistics.table.value.countryCode.CW??? 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
Totale 20.601
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Città #
Ashburn 1.102
Singapore 1.017
Fairfield 974
Chandler 677
San Jose 606
Woodbridge 545
Dallas 513
Hong Kong 450
Houston 434
Milan 431
Jacksonville 410
Seattle 402
Cambridge 369
Nyköping 363
Beijing 324
Wilmington 301
Ann Arbor 286
Council Bluffs 276
New York 220
Bari 192
Los Angeles 164
Lauterbourg 154
Rome 148
Roxbury 145
Lawrence 138
Munich 137
Nanjing 122
Abidjan 116
Helsinki 114
Des Moines 98
Boardman 93
Ho Chi Minh City 89
Santa Clara 81
São Paulo 81
Columbus 70
Brooklyn 69
Inglewood 66
Buffalo 59
Chicago 56
London 54
Princeton 54
Hanoi 52
Moscow 47
Falkenstein 43
San Diego 43
Orem 42
Dearborn 40
Tokyo 40
Brussels 39
Jakarta 38
Frankfurt am Main 36
Nuremberg 35
Dong Ket 34
Figino 34
Montreal 33
Warsaw 32
Johannesburg 30
Shenyang 30
Baghdad 29
Leuven 28
Hebei 27
Toronto 27
Atlanta 26
Chennai 26
Phoenix 26
Tashkent 26
Rio de Janeiro 25
Denver 24
Turku 24
Pune 23
Stockholm 23
Dublin 22
Jiaxing 22
Manchester 22
Paris 22
Turin 22
Boston 21
San Francisco 20
Brasília 19
Brno 19
Changsha 19
Mexico City 19
Nanchang 19
Haiphong 18
Naples 18
Taranto 18
Tianjin 18
Belo Horizonte 17
Caracas 17
Redwood City 17
Shanghai 17
Mumbai 16
Zhengzhou 16
Dhaka 15
Quito 15
Guangzhou 14
Guarulhos 14
The Dalles 14
Waanrode 14
Ankara 13
Totale 13.499
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Nome #
Sailing Across Contraception, Pregnancy, and Breastfeeding: The Complex Journey of Women with Cardiomyopathies 322
A novel multidisciplinary approach in an LMNA-mutated patient: the importance of considering the overall clinical picture for the early diagnosis 285
Clinical and functional characterization of a novel mutation in lamin a/C gene in a multigenerational family with arrhythmogenic cardiac laminopathy 240
Deep Intronic ETFDH Variants Represent a Recurrent Pathogenic Event in Multiple Acyl-CoA Dehydrogenase Deficiency 236
Accurate classification of NF1 gene variants in 84 Italian patients with neurofibromatosis type 1 230
Loss of STK11 expression is an early event in prostate carcinogenesis and predicts therapeutic response to targeted therapy against MAPK/p38. 209
DP71 and SERCA2 alteration in human neurons of a Duchenne muscular dystrophy patient 206
The longevity SNP rs2802292 uncovered: HSF1 activates stress-dependent expression of FOXO3 through an intronic enhancer. 196
636 Genotoxic damage and dna repair gene polymorphisms in workers exposed to low doses of ionising radiation 190
Analysis of telomere dynamics in peripheral blood cells from patients with lynch syndrome 183
Beyond BRCA1/2: Homologous Recombination Repair Genetic Profile in a Large Cohort of Apulian Ovarian Cancers 183
Familly with two different cases of post- and pre-natal L1 syndrome; When hydrocephaly become "multidisciplinary headache" 176
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 176
The proliferative response of HT-29 human colon adenocarcinoma cells to bombesin-like peptides 175
In vitro efficacy of ARQ 092, an allosteric AKT inhibitor, on primary fibroblast cells derived from patients with PIK3CA-related overgrowth spectrum (PROS) 175
Nuovi risultati e prospettive nello studio genetico del mesotelioma maligno. 175
TARGETED NEXT-GENERATION SEQUENCING ANALYSIS OF 1,000 INDIVIDUALS WITH INTELLECTUAL DISABILITY 173
Gastric polyposis and desmoid tumours as a new familial adenomatous polyposis clinical variant associated with APC mutation at the extreme 3′-end 173
Stat3-positive tumor cells contribute to vessels neoformation in primary central nervous system lymphoma 172
Cardiac and neuromuscular features of patients with LMNA-related cardiomyopathy 167
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 166
A long diagnostic delay in patients with Hereditary Haemorrhagic Telangiectasia: A questionnaire-based retrospective study 164
Cancer risk associated with STK11/LKB1 germline mutations in Peutz-Jeghers syndrome patients: Results of an Italian multicenter study 164
Germline pathogenic variant in PIK3CA leading to symmetrical overgrowth with marked macrocephaly and mild global developmental delay 162
Analysis of the LKB1-STRAD-MO25 complex 161
A Rare Case of Severe Congenital RYR1-Associated Myopathy 161
Clinical findings in a family with familial adenomatous polyposis and a missense mutation of the adenomatous polyposis coli gene 159
An LKB1 AT-AC intron mutation causes Peutz-Jeghers syndrome via splicing at noncanonical cryptic splice sites 159
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 159
Association of autoimmune thyroiditis and celiac disease with Juvenile Polyposis due to 10q23.1q23.31 deletion: Potential role of PI3K/Akt pathway dysregulation 158
Parallelism of DOG1 expression with recurrence risk in gastrointestinal stromal tumors bearing KIT or PDGFRA mutations 157
Breakpoint determination of 15 large deletions in Peutz-Jeghers subjects 157
A large interstitial deletion encompassing the amelogenin gene on the short arm of the Y chromosome 155
Beta1-Adrenergic Receptor Polymorphisms Predict Heart Failure Progression in Idiopathic Dilated Cardiomyopathy 154
Nine novel APC mutations in Italian FAP patients 151
Primary melanoma of the testis: myth 150
Two novel cases of compound heterozygous mutations in mitofusin2: Finding out the inheritance 147
RUOLO DELLA SUSCETTIBILITÀ GENETICA NELL’INSORGENZA DEL MESOTELIOMA MALIGNO: NUOVE PROSPETTIVE 146
First evidence of a therapeutic effect of miransertib in a teenager with Proteus syndrome and ovarian carcinoma 146
Hereditary hemorrhagic telangiectasia: arteriovenous malformations in children. 142
COQ4 mutations cause a broad spectrum of mitochondrial disorders associated with CoQ10 deficiency 142
A novel genetic variant in the wfs1 gene in a patient with partial uniparental mero‐isodisomy of chromosome 4 142
The Role of Oxidative Stress in the Pathomechanism of Congenital Malformations 141
A homozygous frameshift mutation in the ESCO2 gene: evidence of intertissue and interindividual variation in NMD efficiency 140
Allele frequencies of the new European Standard Set (ESS) loci in a population of Apulia (Southern Italy) 139
A silent mutation in exon 14 of the APC gene is associated with exon skipping in a FAP family 139
Y-chromosome haplotypes in Italy: the GEFI collaborative database 137
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 137
Importance of clinical suspicion and multidisciplinary management for early diagnosis of a cardiac laminopathy patient: A case report 135
The Italian External Quality Control Program for Familial Adenomatous Polyposis of the Colon: Five Years of Experience 130
Functional analysis of LKB1/STK11 mutants and two aberrant isoforms found in Peutz-Jeghers Syndrome patients 128
Gait disturbance and lower limb pain in a patient with PIK3CA-related disorder 125
Population data for 17 Y-chromosome STRs in a sample from Apulia (Southern Italy) 125
Novel scn5a p.W697x nonsense mutation segregation in a family with brugada syndrome 124
Survey of KRAS, BRAF and PIK3CA mutational status in 209 consecutive Italian colorectal cancer patients 123
Left ventricular systolic dysfunction and conduction system disorders: when do you think about cardiolaminopathy? 123
A new case of Smith-Kingsmore syndrome with somatic MTOR pathogenic variant expands the phenotypic spectrum to lateralized overgrowth 123
SCE frequency measurement could be useful in the prenatal diagnosis of Roberts syndrome 122
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. 122
Missense and Non-Missense Lamin A/C Gene Mutations Are Similarly Associated with Major Arrhythmic Cardiac Events: A 20-Year Single-Centre Experience 121
BRCAmut and "founder effect": A prospective study in a single academic institution 121
Identification and surveillance of 19 Lynch syndrome families in southern Italy: report of six novel germline mutations and a common founder mutation 121
DHPLC-based mutation analysis of ENG and ALK-1 genes in HHT Italian population 120
Distribution of DYS19, DYS389 I, DYS389 II, DYS390 Alleles in a Southern Italian population sample 119
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 119
Trisomy 13 mosaicism in a phenotypically normal child: description of cytogenetic and clinical findings from early pregnancy beyond 2 years of age 119
Neurofibromatosis type 1 and melanoma of the iris arising from a dysplastic nevus: A rare yet casual association? 119
Cyclin E and chromosome instability in colorectal cancer cell lines 118
FAMILIAL ADENOMATOUS POLYPOSIS - IDENTIFICATION OF A NEW FRAMESHIFT MUTATION OF THE APC GENE IN AN ITALIAN FAMILY 117
Old treatments for new genetic conditions: Sirolimus therapy in a child affected by mosaic overgrowth with fibroadipose hyperplasia 117
Analisi mutazionale dei geni hMSH2 e hMLH2 in soggetti con cancro colorettale ad insorgenza precoce. 116
Characterization of the rs2802292 SNP identifies FOXO3A as a modifier locus predicting cancer risk in patients with PJS and PHTS hamartomatous polyposis syndromes 116
Clinical presentation and genetic analyses of neurofibromatosis type 1 in independent patients with monoallelic double de novo closely spaced mutations in the NF1 gene 115
Infertility in carriers of two bisatellited marker chromosomes 115
Functional evidence of mTORβ splice variant involvement in the pathogenesis of congenital heart defects 114
Genomic profiling at a single center cracks the code in inborn errors of immunity 113
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 113
Autophagy increase in Merosin-Deficient Congenital Muscular Dystrophy type 1A 111
Caratterizzazione di geni coinvolti nei processi di trasformazione neoplastica. 111
Impact of High-to-Moderate Penetrance Genes on Genetic Testing: Looking over Breast Cancer 109
EXCLUSION OF THE APC GENE AS THE CAUSE OF A VARIANT FORM OF FAMILIAL ADENOMATOUS POLYPOSIS (FAP) 109
A novel LMNA gene mutation in a multigenerational family with arrhythmogenic cardiac laminopathy 109
Distribution of DYS391, DYS392, DYS393, DYS385, alleles in a southern Italian population sample 108
Bioinformatica applicata alla consulenza genetica 108
Esiste un’influenza dei polimorfismi dell’enzima epossi-idrolasi microsomiale(mEH) sui marcatori citogenetici di danno genotossico? 108
Sigma-2 Receptor Ligand Binding Modulates Association between TSPO and TMEM97 106
A prospective multicentric study of risk-reducing salpingo-oophorectomy in BRCA mutation patients 106
Pro-inflammatory cytokines as emerging molecular determinants in cardiolaminopathies 106
Una nuova mutazione di PTEN nella malattia di Cowden 104
Allele frequencies of the new European Standard Set (ESS) loci in a population of Apulia (Southern Italy) 104
Lateralized overgrowth with vascular malformation caused by a somatic PTPN11 pathogenic variant: another piece added to the puzzle of mosaic RASopathies 103
Genetic and clinical features of Familial Mediterranean Fever (FMF) in a homogeneous cohort of patients from south-eastern Italy 102
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 102
Chromosomal microarray (CMA) analysis in infants with congenital anomalies: when is it really helpful? 101
The association of adrenocortical carcinoma and thyroid cancer in a child with Peutz-Jeghers syndrome 101
Endoglin gene mutations and polymorphisms in Italian patients with hereditary haemorrhagic telangiectasia 101
Molecular and clinical characteristics in 46 families affected with peutz-jeghers syndrome 100
Four novel mutations of the APC (adenomatous polyposis coli) gene in FAP patients 100
The molecular characterization of a depurinated trial DNA sample can be a model to understand the reliability of the results in forensic genetics 100
Distribution of HumvWA31, HumFESFPS, HumTH01, HumTPOX, HumCD4, HumCSF1PO alleles in a southern Italian population sample 99
Totale 14.178
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Categoria #
all - tutte 88.531
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 88.531
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2021/2022908 0 0 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
2025/20268.059 953 373 933 854 858 422 761 243 772 812 264 814
2026/20271.046 358 441 247 0 0 0 0 0 0 0 0 0
Totale 21.193