IRIS
RESTA, Nicoletta
 Distribuzione geografica
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Continente #
NA - Nord America 6.586
EU - Europa 1.914
AS - Asia 914
SA - Sud America 5
OC - Oceania 1
Totale 9.420
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Nazione #
US - Stati Uniti d'America 6.572
CN - Cina 538
SE - Svezia 459
IT - Italia 445
SG - Singapore 292
UA - Ucraina 200
DE - Germania 194
FI - Finlandia 166
RU - Federazione Russa 152
GB - Regno Unito 119
BE - Belgio 47
FR - Francia 46
VN - Vietnam 34
IN - India 29
CZ - Repubblica Ceca 21
NL - Olanda 21
IE - Irlanda 16
CA - Canada 13
IR - Iran 6
ES - Italia 5
KR - Corea 5
LT - Lituania 5
PL - Polonia 4
RO - Romania 4
AT - Austria 2
CL - Cile 2
HK - Hong Kong 2
HU - Ungheria 2
SI - Slovenia 2
TR - Turchia 2
AU - Australia 1
BG - Bulgaria 1
BR - Brasile 1
CH - Svizzera 1
CR - Costa Rica 1
EC - Ecuador 1
ID - Indonesia 1
IL - Israele 1
JP - Giappone 1
LK - Sri Lanka 1
ME - Montenegro 1
MK - Macedonia 1
NP - Nepal 1
PE - Perù 1
TW - Taiwan 1
Totale 9.420
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Città #
Fairfield 979
Chandler 663
Woodbridge 539
Ashburn 497
Houston 415
Jacksonville 405
Seattle 398
Cambridge 371
Nyköping 362
Wilmington 304
Ann Arbor 286
Singapore 238
Bari 164
Roxbury 144
Lawrence 137
Beijing 134
Nanjing 122
Des Moines 96
New York 94
Helsinki 66
Inglewood 66
Boardman 60
Princeton 54
Munich 51
San Diego 40
Dearborn 39
Brooklyn 34
Dong Ket 34
Brussels 33
London 33
Shenyang 30
Rome 28
Hebei 27
Santa Clara 26
Jiaxing 23
Pune 21
Brno 19
Nanchang 19
Paris 19
Redwood City 17
Dublin 16
Tianjin 16
Zhengzhou 16
Changsha 15
Taranto 14
Waanrode 14
Guangzhou 13
Los Angeles 13
Norwalk 11
Shanghai 11
Toronto 10
Hefei 9
Washington 9
Bisceglie 7
Falls Church 7
Frankfurt am Main 7
Kunming 7
Milan 7
Leawood 6
Napoli 6
Foggia 5
Grottaglie 5
Marseille 5
Pavia 5
San Francisco 5
San Mateo 5
Acton 4
Augusta 4
Boydton 4
Chiswick 4
Jinan 4
Kilburn 4
Mumbai 4
Ningbo 4
Noicattaro 4
Padova 4
Stimigliano 4
Valenzano 4
Adelfia 3
Ardabil 3
Barcelona 3
Brescia 3
Cittadella 3
Edinburgh 3
Espoo 3
Haikou 3
Hangzhou 3
Jamaica Plain 3
Matera 3
Menlo Park 3
Ottawa 3
Wuhan 3
Atrani 2
Auburn Hills 2
Bologna 2
Brindisi 2
Buffalo 2
Caerphilly 2
Cagliari 2
Chengdu 2
Totale 7.437
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Nome #
Loss of STK11 expression is an early event in prostate carcinogenesis and predicts therapeutic response to targeted therapy against MAPK/p38. 137
636 Genotoxic damage and dna repair gene polymorphisms in workers exposed to low doses of ionising radiation 134
The proliferative response of HT-29 human colon adenocarcinoma cells to bombesin-like peptides 119
Accurate classification of NF1 gene variants in 84 Italian patients with neurofibromatosis type 1 119
DP71 and SERCA2 alteration in human neurons of a Duchenne muscular dystrophy patient 116
Stat3-positive tumor cells contribute to vessels neoformation in primary central nervous system lymphoma 115
Nuovi risultati e prospettive nello studio genetico del mesotelioma maligno. 115
Clinical and functional characterization of a novel mutation in lamin a/C gene in a multigenerational family with arrhythmogenic cardiac laminopathy 112
Analysis of telomere dynamics in peripheral blood cells from patients with lynch syndrome 105
Parallelism of DOG1 expression with recurrence risk in gastrointestinal stromal tumors bearing KIT or PDGFRA mutations 103
Beta1-Adrenergic Receptor Polymorphisms Predict Heart Failure Progression in Idiopathic Dilated Cardiomyopathy 103
Clinical findings in a family with familial adenomatous polyposis and a missense mutation of the adenomatous polyposis coli gene 102
In vitro efficacy of ARQ 092, an allosteric AKT inhibitor, on primary fibroblast cells derived from patients with PIK3CA-related overgrowth spectrum (PROS) 100
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 99
Familly with two different cases of post- and pre-natal L1 syndrome; When hydrocephaly become "multidisciplinary headache" 99
An LKB1 AT-AC intron mutation causes Peutz-Jeghers syndrome via splicing at noncanonical cryptic splice sites 98
Breakpoint determination of 15 large deletions in Peutz-Jeghers subjects 97
A large interstitial deletion encompassing the amelogenin gene on the short arm of the Y chromosome 97
Y-chromosome haplotypes in Italy: the GEFI collaborative database 96
Association of autoimmune thyroiditis and celiac disease with Juvenile Polyposis due to 10q23.1q23.31 deletion: Potential role of PI3K/Akt pathway dysregulation 96
Nine novel APC mutations in Italian FAP patients 93
Analysis of the LKB1-STRAD-MO25 complex 92
Allele frequencies of the new European Standard Set (ESS) loci in a population of Apulia (Southern Italy) 91
Two novel cases of compound heterozygous mutations in mitofusin2: Finding out the inheritance 91
Cardiac and neuromuscular features of patients with LMNA-related cardiomyopathy 91
Hereditary hemorrhagic telangiectasia: arteriovenous malformations in children. 90
Gastric polyposis and desmoid tumours as a new familial adenomatous polyposis clinical variant associated with APC mutation at the extreme 3′-end 90
The Role of Oxidative Stress in the Pathomechanism of Congenital Malformations 90
Population data for 17 Y-chromosome STRs in a sample from Apulia (Southern Italy) 88
SCE frequency measurement could be useful in the prenatal diagnosis of Roberts syndrome 87
Distribution of DYS19, DYS389 I, DYS389 II, DYS390 Alleles in a Southern Italian population sample 86
Functional analysis of LKB1/STK11 mutants and two aberrant isoforms found in Peutz-Jeghers Syndrome patients 86
Survey of KRAS, BRAF and PIK3CA mutational status in 209 consecutive Italian colorectal cancer patients 86
A Rare Case of Severe Congenital RYR1-Associated Myopathy 85
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 85
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 84
Primary melanoma of the testis: myth 84
Cancer risk associated with STK11/LKB1 germline mutations in Peutz-Jeghers syndrome patients: Results of an Italian multicenter study 83
Cyclin E and chromosome instability in colorectal cancer cell lines 82
The Italian External Quality Control Program for Familial Adenomatous Polyposis of the Colon: Five Years of Experience 82
A silent mutation in exon 14 of the APC gene is associated with exon skipping in a FAP family 81
FAMILIAL ADENOMATOUS POLYPOSIS - IDENTIFICATION OF A NEW FRAMESHIFT MUTATION OF THE APC GENE IN AN ITALIAN FAMILY 81
Trisomy 13 mosaicism in a phenotypically normal child: description of cytogenetic and clinical findings from early pregnancy beyond 2 years of age 80
Infertility in carriers of two bisatellited marker chromosomes 80
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DHPLC-based mutation analysis of ENG and ALK-1 genes in HHT Italian population 80
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. 79
Germline pathogenic variant in PIK3CA leading to symmetrical overgrowth with marked macrocephaly and mild global developmental delay 79
A long diagnostic delay in patients with Hereditary Haemorrhagic Telangiectasia: A questionnaire-based retrospective study 78
COQ4 mutations cause a broad spectrum of mitochondrial disorders associated with CoQ10 deficiency 78
The association of adrenocortical carcinoma and thyroid cancer in a child with Peutz-Jeghers syndrome 75
Four novel mutations of the APC (adenomatous polyposis coli) gene in FAP patients 74
TARGETED NEXT-GENERATION SEQUENCING ANALYSIS OF 1,000 INDIVIDUALS WITH INTELLECTUAL DISABILITY 74
Distribution of DYS391, DYS392, DYS393, DYS385, alleles in a southern Italian population sample 73
Endoglin gene mutations and polymorphisms in Italian patients with hereditary haemorrhagic telangiectasia 72
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Distribution of HumvWA31, HumFESFPS, HumTH01, HumTPOX, HumCD4, HumCSF1PO alleles in a southern Italian population sample 68
Identification and surveillance of 19 Lynch syndrome families in southern Italy: report of six novel germline mutations and a common founder mutation 68
EXCLUSION OF THE APC GENE AS THE CAUSE OF A VARIANT FORM OF FAMILIAL ADENOMATOUS POLYPOSIS (FAP) 66
The longevity SNP rs2802292 uncovered: HSF1 activates stress-dependent expression of FOXO3 through an intronic enhancer. 66
RUOLO DELLA SUSCETTIBILITÀ GENETICA NELL’INSORGENZA DEL MESOTELIOMA MALIGNO: NUOVE PROSPETTIVE 66
A homozygous frameshift mutation in the ESCO2 gene: evidence of intertissue and interindividual variation in NMD efficiency 65
The molecular characterization of a depurinated trial DNA sample can be a model to understand the reliability of the results in forensic genetics 65
Molecular and clinical characteristics in 46 families affected with peutz-jeghers syndrome 63
null 63
Old treatments for new genetic conditions: Sirolimus therapy in a child affected by mosaic overgrowth with fibroadipose hyperplasia 63
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 63
Beyond BRCA1/2: Homologous Recombination Repair Genetic Profile in a Large Cohort of Apulian Ovarian Cancers 63
The 2011 GeFI collaborative exercise. Concordance study, proficiency testing and Italian population data on the new ENFSI/EDNAP loci D1S1656, D2S441, D10S1248, D12S391, D22S1045. 62
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) 62
First evidence of a therapeutic effect of miransertib in a teenager with Proteus syndrome and ovarian carcinoma 62
Novel scn5a p.W697x nonsense mutation segregation in a family with brugada syndrome 61
Limb hypertrophy: A skin vascular malformation and bilateral hydroureteronephrosis in a neonate 60
Chromosomal microarray (CMA) analysis in infants with congenital anomalies: when is it really helpful? 59
Gait disturbance and lower limb pain in a patient with PIK3CA-related disorder 59
Cancer risks in LKB1 germline mutation carriers 58
Clinical findings in a family with FAP and a missense mutation of APC gene 58
The DOG1 scoring system in GIST: a novel factor for measurement of the recurrence risk 58
Carcinoma papillare della tiroide e S. di Peutz Jeghers 57
Non-colonic Cancer Stem Cells in Bone Marrow of Colorectal Cancer Patients 57
Analisi mutazionale dei geni hMSH2 e hMLH2 in soggetti con cancro colorettale ad insorgenza precoce. 55
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The familial adenomatous polyposis region exhibits many different haplotypes 55
Association of β-adrenergic receptor polymorphisms and progression to heart failure in patients with idiopathic dilated cardiomyopathy 54
BRCAmut and "founder effect": A prospective study in a single academic institution 54
Esiste un’influenza dei polimorfismi dell’enzima epossi-idrolasi microsomiale(mEH) sui marcatori citogenetici di danno genotossico? 54
Ganglioma arising in a Peutz-Jeghers patient:a case report with molecular implications 53
Bioinformatica applicata alla consulenza genetica 53
The Italian National External quality assessment program in molecular genetic testing: results of the VII roun 52
Relation between detoxification enzyme polymorphism and genotoxic cytogenetic biomarkers 51
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Intestinal renin-angiotensin system is stimulated after deletion of Lkb1 51
Phosphoproteomics of CD2 signaling reveals AMPK-dependent regulation of lytic granule polarization in cytotoxic T cells 51
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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 50
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Una nuova mutazione di PTEN nella malattia di Cowden 47
In silico and in vivo analysis of MLH1 and MSH2 missense mutations shows exon- and tissue-specific effects 47
Neurofibromatosis type 1 and melanoma of the iris arising from a dysplastic nevus: A rare yet casual association? 47
Microcephaly-Capillary Malformation Syndrome 47
Totale 7.659
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Categoria #
all - tutte 49.103
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 49.103
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2019/20201.141 0 0 0 0 0 0 233 203 266 161 204 74
2020/20211.714 119 97 115 97 250 81 205 140 151 220 121 118
2021/20221.133 89 140 24 31 34 87 75 60 61 95 200 237
2022/20231.807 236 212 119 142 188 266 27 214 313 20 47 23
2023/2024658 39 121 28 62 88 159 15 26 16 12 16 76
2024/2025840 107 28 226 103 116 257 3 0 0 0 0 0
Totale 9.858