IRIS
RESTA, Nicoletta
 Distribuzione geografica
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Continente #
NA - Nord America 6.433
EU - Europa 1.592
AS - Asia 533
SA - Sud America 5
OC - Oceania 2
Totale 8.565
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Nazione #
US - Stati Uniti d'America 6.429
SE - Svezia 467
CN - Cina 452
IT - Italia 395
UA - Ucraina 200
DE - Germania 137
FI - Finlandia 133
GB - Regno Unito 106
FR - Francia 48
BE - Belgio 43
VN - Vietnam 34
IN - India 30
NL - Olanda 20
IE - Irlanda 17
RU - Federazione Russa 11
IR - Iran 6
KR - Corea 5
CA - Canada 3
PL - Polonia 3
CL - Cile 2
ES - Italia 2
RO - Romania 2
SI - Slovenia 2
AT - Austria 1
AU - Australia 1
BR - Brasile 1
CH - Svizzera 1
CR - Costa Rica 1
CZ - Repubblica Ceca 1
EC - Ecuador 1
HU - Ungheria 1
ID - Indonesia 1
IL - Israele 1
ME - Montenegro 1
MK - Macedonia 1
NP - Nepal 1
NZ - Nuova Zelanda 1
PE - Perù 1
PH - Filippine 1
SG - Singapore 1
TW - Taiwan 1
Totale 8.565
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Città #
Fairfield 979
Chandler 667
Woodbridge 539
Ashburn 491
Houston 415
Jacksonville 405
Seattle 398
Cambridge 371
Nyköping 369
Wilmington 304
Ann Arbor 286
Bari 154
Roxbury 144
Lawrence 138
Beijing 127
Nanjing 122
Des Moines 97
New York 93
Inglewood 66
Princeton 54
Boardman 46
San Diego 40
Dearborn 39
Helsinki 36
Brooklyn 34
Dong Ket 34
Shenyang 30
Brussels 29
London 29
Hebei 27
Rome 24
Jiaxing 22
Pune 22
Paris 21
Nanchang 19
Dublin 17
Redwood City 17
Tianjin 16
Changsha 14
Waanrode 14
Zhengzhou 14
Taranto 12
Norwalk 11
Washington 10
Hefei 9
Bisceglie 7
Falls Church 7
Kunming 7
Milan 7
Guangzhou 6
Leawood 6
Napoli 6
Foggia 5
Marseille 5
Pavia 5
San Mateo 5
Acton 4
Augusta 4
Boydton 4
Chiswick 4
Jinan 4
Kilburn 4
Mumbai 4
Ningbo 4
Noicattaro 4
San Francisco 4
Stimigliano 4
Valenzano 4
Adelfia 3
Ardabil 3
Brescia 3
Edinburgh 3
Haikou 3
Hangzhou 3
Los Angeles 3
Menlo Park 3
Shanghai 3
Toronto 3
Auburn Hills 2
Brindisi 2
Caerphilly 2
Cagliari 2
Grafing 2
Grottaglie 2
Hounslow 2
Ljubljana 2
Modugno 2
Monopoli 2
Montebelluna 2
Monza 2
Prescot 2
Quartu Sant'Elena 2
Sabz 2
San Jose 2
Stockholm 2
Taiyuan 2
Taizhou 2
Turin 2
Wandsworth 2
Ahmedabad 1
Totale 6.992
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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. 131
636 Genotoxic damage and dna repair gene polymorphisms in workers exposed to low doses of ionising radiation 120
The proliferative response of HT-29 human colon adenocarcinoma cells to bombesin-like peptides 115
Accurate classification of NF1 gene variants in 84 Italian patients with neurofibromatosis type 1 111
Stat3-positive tumor cells contribute to vessels neoformation in primary central nervous system lymphoma 110
DP71 and SERCA2 alteration in human neurons of a Duchenne muscular dystrophy patient 107
Nuovi risultati e prospettive nello studio genetico del mesotelioma maligno. 106
Parallelism of DOG1 expression with recurrence risk in gastrointestinal stromal tumors bearing KIT or PDGFRA mutations 100
Clinical and functional characterization of a novel mutation in lamin a/C gene in a multigenerational family with arrhythmogenic cardiac laminopathy 99
Analysis of telomere dynamics in peripheral blood cells from patients with lynch syndrome 98
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 97
Clinical findings in a family with familial adenomatous polyposis and a missense mutation of the adenomatous polyposis coli gene 96
Familly with two different cases of post- and pre-natal L1 syndrome; When hydrocephaly become "multidisciplinary headache" 95
An LKB1 AT-AC intron mutation causes Peutz-Jeghers syndrome via splicing at noncanonical cryptic splice sites 94
In vitro efficacy of ARQ 092, an allosteric AKT inhibitor, on primary fibroblast cells derived from patients with PIK3CA-related overgrowth spectrum (PROS) 94
Breakpoint determination of 15 large deletions in Peutz-Jeghers subjects 91
A large interstitial deletion encompassing the amelogenin gene on the short arm of the Y chromosome 91
Y-chromosome haplotypes in Italy: the GEFI collaborative database 90
Nine novel APC mutations in Italian FAP patients 90
Beta1-Adrenergic Receptor Polymorphisms Predict Heart Failure Progression in Idiopathic Dilated Cardiomyopathy 90
Association of autoimmune thyroiditis and celiac disease with Juvenile Polyposis due to 10q23.1q23.31 deletion: Potential role of PI3K/Akt pathway dysregulation 89
The Role of Oxidative Stress in the Pathomechanism of Congenital Malformations 89
Two novel cases of compound heterozygous mutations in mitofusin2: Finding out the inheritance 87
Population data for 17 Y-chromosome STRs in a sample from Apulia (Southern Italy) 86
Gastric polyposis and desmoid tumours as a new familial adenomatous polyposis clinical variant associated with APC mutation at the extreme 3′-end 85
SCE frequency measurement could be useful in the prenatal diagnosis of Roberts syndrome 84
Functional analysis of LKB1/STK11 mutants and two aberrant isoforms found in Peutz-Jeghers Syndrome patients 84
Survey of KRAS, BRAF and PIK3CA mutational status in 209 consecutive Italian colorectal cancer patients 83
Analysis of the LKB1-STRAD-MO25 complex 83
Distribution of DYS19, DYS389 I, DYS389 II, DYS390 Alleles in a Southern Italian population sample 82
Allele frequencies of the new European Standard Set (ESS) loci in a population of Apulia (Southern Italy) 81
Hereditary hemorrhagic telangiectasia: arteriovenous malformations in children. 81
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Cardiac and neuromuscular features of patients with LMNA-related cardiomyopathy 79
Cyclin E and chromosome instability in colorectal cancer cell lines 78
Trisomy 13 mosaicism in a phenotypically normal child: description of cytogenetic and clinical findings from early pregnancy beyond 2 years of age 78
DHPLC-based mutation analysis of ENG and ALK-1 genes in HHT Italian population 78
FAMILIAL ADENOMATOUS POLYPOSIS - IDENTIFICATION OF A NEW FRAMESHIFT MUTATION OF THE APC GENE IN AN ITALIAN FAMILY 78
Primary melanoma of the testis: myth 78
The Italian External Quality Control Program for Familial Adenomatous Polyposis of the Colon: Five Years of Experience 77
Infertility in carriers of two bisatellited marker chromosomes 76
A silent mutation in exon 14 of the APC gene is associated with exon skipping in a FAP family 75
Germline pathogenic variant in PIK3CA leading to symmetrical overgrowth with marked macrocephaly and mild global developmental delay 75
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 75
COQ4 mutations cause a broad spectrum of mitochondrial disorders associated with CoQ10 deficiency 74
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. 73
Cancer risk associated with STK11/LKB1 germline mutations in Peutz-Jeghers syndrome patients: Results of an Italian multicenter study 73
TARGETED NEXT-GENERATION SEQUENCING ANALYSIS OF 1,000 INDIVIDUALS WITH INTELLECTUAL DISABILITY 72
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 71
The association of adrenocortical carcinoma and thyroid cancer in a child with Peutz-Jeghers syndrome 71
Endoglin gene mutations and polymorphisms in Italian patients with hereditary haemorrhagic telangiectasia 71
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Four novel mutations of the APC (adenomatous polyposis coli) gene in FAP patients 70
Distribution of DYS391, DYS392, DYS393, DYS385, alleles in a southern Italian population sample 68
A long diagnostic delay in patients with Hereditary Haemorrhagic Telangiectasia: A questionnaire-based retrospective study 68
Distribution of HumvWA31, HumFESFPS, HumTH01, HumTPOX, HumCD4, HumCSF1PO alleles in a southern Italian population sample 65
Identification and surveillance of 19 Lynch syndrome families in southern Italy: report of six novel germline mutations and a common founder mutation 65
EXCLUSION OF THE APC GENE AS THE CAUSE OF A VARIANT FORM OF FAMILIAL ADENOMATOUS POLYPOSIS (FAP) 63
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The longevity SNP rs2802292 uncovered: HSF1 activates stress-dependent expression of FOXO3 through an intronic enhancer. 62
Molecular and clinical characteristics in 46 families affected with peutz-jeghers syndrome 61
A homozygous frameshift mutation in the ESCO2 gene: evidence of intertissue and interindividual variation in NMD efficiency 61
The molecular characterization of a depurinated trial DNA sample can be a model to understand the reliability of the results in forensic genetics 61
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) 59
The 2011 GeFI collaborative exercise. Concordance study, proficiency testing and Italian population data on the new ENFSI/EDNAP loci D1S1656, D2S441, D10S1248, D12S391, D22S1045. 58
Old treatments for new genetic conditions: Sirolimus therapy in a child affected by mosaic overgrowth with fibroadipose hyperplasia 58
Cancer risks in LKB1 germline mutation carriers 57
Limb hypertrophy: A skin vascular malformation and bilateral hydroureteronephrosis in a neonate 57
First evidence of a therapeutic effect of miransertib in a teenager with Proteus syndrome and ovarian carcinoma 57
Chromosomal microarray (CMA) analysis in infants with congenital anomalies: when is it really helpful? 56
The DOG1 scoring system in GIST: a novel factor for measurement of the recurrence risk 56
Carcinoma papillare della tiroide e S. di Peutz Jeghers 55
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Gait disturbance and lower limb pain in a patient with PIK3CA-related disorder 55
RUOLO DELLA SUSCETTIBILITÀ GENETICA NELL’INSORGENZA DEL MESOTELIOMA MALIGNO: NUOVE PROSPETTIVE 54
Novel scn5a p.W697x nonsense mutation segregation in a family with brugada syndrome 54
Beyond BRCA1/2: Homologous Recombination Repair Genetic Profile in a Large Cohort of Apulian Ovarian Cancers 54
Clinical findings in a family with FAP and a missense mutation of APC gene 53
Non-colonic Cancer Stem Cells in Bone Marrow of Colorectal Cancer Patients 53
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 53
The familial adenomatous polyposis region exhibits many different haplotypes 52
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The Italian National External quality assessment program in molecular genetic testing: results of the VII roun 50
Ganglioma arising in a Peutz-Jeghers patient:a case report with molecular implications 50
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Intestinal renin-angiotensin system is stimulated after deletion of Lkb1 50
Bioinformatica applicata alla consulenza genetica 49
Esiste un’influenza dei polimorfismi dell’enzima epossi-idrolasi microsomiale(mEH) sui marcatori citogenetici di danno genotossico? 49
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Analisi mutazionale dei geni hMSH2 e hMLH2 in soggetti con cancro colorettale ad insorgenza precoce. 47
BRCAmut and "founder effect": A prospective study in a single academic institution 47
Relation between detoxification enzyme polymorphism and genotoxic cytogenetic biomarkers 46
In silico and in vivo analysis of MLH1 and MSH2 missense mutations shows exon- and tissue-specific effects 45
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 45
Una nuova mutazione di PTEN nella malattia di Cowden 44
Association of β-adrenergic receptor polymorphisms and progression to heart failure in patients with idiopathic dilated cardiomyopathy 44
Phosphoproteomics of CD2 signaling reveals AMPK-dependent regulation of lytic granule polarization in cytotoxic T cells 44
Microcephaly-Capillary Malformation Syndrome 43
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Totale 7.167
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Categoria #
all - tutte 38.495
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 38.495
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2018/2019711 0 0 0 0 0 0 0 0 0 131 278 302
2019/20202.269 342 126 73 199 237 151 233 203 266 161 204 74
2020/20211.714 119 97 115 97 250 81 205 140 151 220 121 118
2021/20221.134 89 140 24 31 34 87 75 60 61 95 200 238
2022/20231.827 237 215 122 142 188 269 29 217 315 20 48 25
2023/2024579 41 124 29 63 90 164 15 27 16 10 0 0
Totale 8.960