RESTA, Nicoletta
 Distribuzione geografica
Continente #
NA - Nord America 5541
EU - Europa 1318
AS - Asia 506
SA - Sud America 4
OC - Oceania 1
Totale 7370
Nazione #
US - Stati Uniti d'America 5538
CN - Cina 452
SE - Svezia 379
IT - Italia 339
UA - Ucraina 200
DE - Germania 123
FI - Finlandia 108
GB - Regno Unito 53
BE - Belgio 43
FR - Francia 41
VN - Vietnam 34
NL - Olanda 18
RU - Federazione Russa 9
IN - India 6
IR - Iran 6
KR - Corea 5
CA - Canada 2
CL - Cile 2
ES - Italia 2
AT - Austria 1
AU - Australia 1
CR - Costa Rica 1
EC - Ecuador 1
HU - Ungheria 1
ID - Indonesia 1
NP - Nepal 1
PE - Perù 1
PL - Polonia 1
TW - Taiwan 1
Totale 7370
Città #
Fairfield 976
Chandler 616
Woodbridge 538
Houston 415
Jacksonville 405
Ashburn 398
Seattle 395
Cambridge 371
Wilmington 304
Ann Arbor 284
Nyköping 283
Bari 148
Roxbury 144
Lawrence 137
Beijing 127
Nanjing 122
Des Moines 96
Inglewood 65
Princeton 53
Boardman 46
San Diego 40
Dearborn 39
Brooklyn 34
Dong Ket 34
Shenyang 30
Brussels 29
Hebei 27
Jiaxing 22
Paris 20
Nanchang 19
Redwood City 17
Tianjin 16
Changsha 14
Rome 14
Waanrode 14
Zhengzhou 14
Taranto 12
Helsinki 11
Norwalk 11
London 10
Hefei 9
Falls Church 7
Kunming 7
Guangzhou 6
Leawood 6
Napoli 6
Milan 5
Pavia 5
San Mateo 5
Augusta 4
Bisceglie 4
Jinan 4
Mumbai 4
Ningbo 4
Noicattaro 4
San Francisco 4
Stimigliano 4
Valenzano 4
Ardabil 3
Brescia 3
Haikou 3
Hangzhou 3
Menlo Park 3
New York 3
Shanghai 3
Auburn Hills 2
Brindisi 2
Grafing 2
Modugno 2
Monopoli 2
Sabz 2
Taiyuan 2
Taizhou 2
Toronto 2
Albenga 1
Altopascio 1
Baotou 1
Bergamo 1
Carpi 1
Catania 1
Chaoyang 1
Chengdu 1
Chicago 1
Chita 1
Cleveland 1
Costa Mesa 1
Dongan 1
Ercolano 1
Fuzhou 1
Indiana 1
Kathmandu 1
Kemerovo 1
La Canada Flintridge 1
Langfang 1
Lanzhou 1
Las Vegas 1
Lima 1
Madrid 1
Marcon 1
Martina Franca 1
Totale 6507
Nome #
Loss of STK11 expression is an early event in prostate carcinogenesis and predicts therapeutic response to targeted therapy against MAPK/p38. 123
636 Genotoxic damage and dna repair gene polymorphisms in workers exposed to low doses of ionising radiation 110
The proliferative response of HT-29 human colon adenocarcinoma cells to bombesin-like peptides 104
Stat3-positive tumor cells contribute to vessels neoformation in primary central nervous system lymphoma 102
Accurate classification of NF1 gene variants in 84 Italian patients with neurofibromatosis type 1 100
Parallelism of DOG1 expression with recurrence risk in gastrointestinal stromal tumors bearing KIT or PDGFRA mutations 96
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 92
Nuovi risultati e prospettive nello studio genetico del mesotelioma maligno. 91
DP71 and SERCA2 alteration in human neurons of a Duchenne muscular dystrophy patient 89
Analysis of telomere dynamics in peripheral blood cells from patients with lynch syndrome 88
Clinical findings in a family with familial adenomatous polyposis and a missense mutation of the adenomatous polyposis coli gene 86
An LKB1 AT-AC intron mutation causes Peutz-Jeghers syndrome via splicing at noncanonical cryptic splice sites 86
Familly with two different cases of post- and pre-natal L1 syndrome; When hydrocephaly become "multidisciplinary headache" 86
Breakpoint determination of 15 large deletions in Peutz-Jeghers subjects 85
Population data for 17 Y-chromosome STRs in a sample from Apulia (Southern Italy) 84
The Role of Oxidative Stress in the Pathomechanism of Congenital Malformations 84
In vitro efficacy of ARQ 092, an allosteric AKT inhibitor, on primary fibroblast cells derived from patients with PIK3CA-related overgrowth spectrum (PROS) 83
Beta1-Adrenergic Receptor Polymorphisms Predict Heart Failure Progression in Idiopathic Dilated Cardiomyopathy 83
Y-chromosome haplotypes in Italy: the GEFI collaborative database 82
Nine novel APC mutations in Italian FAP patients 80
null 80
SCE frequency measurement could be useful in the prenatal diagnosis of Roberts syndrome 79
Functional analysis of LKB1/STK11 mutants and two aberrant isoforms found in Peutz-Jeghers Syndrome patients 79
Association of autoimmune thyroiditis and celiac disease with Juvenile Polyposis due to 10q23.1q23.31 deletion: Potential role of PI3K/Akt pathway dysregulation 79
null 79
Clinical and functional characterization of a novel mutation in lamin a/C gene in a multigenerational family with arrhythmogenic cardiac laminopathy 79
A large interstitial deletion encompassing the amelogenin gene on the short arm of the Y chromosome 78
Distribution of DYS19, DYS389 I, DYS389 II, DYS390 Alleles in a Southern Italian population sample 75
Allele frequencies of the new European Standard Set (ESS) loci in a population of Apulia (Southern Italy) 75
The Italian External Quality Control Program for Familial Adenomatous Polyposis of the Colon: Five Years of Experience 73
Analysis of the LKB1-STRAD-MO25 complex 73
COQ4 mutations cause a broad spectrum of mitochondrial disorders associated with CoQ10 deficiency 73
Trisomy 13 mosaicism in a phenotypically normal child: description of cytogenetic and clinical findings from early pregnancy beyond 2 years of age 72
Hereditary hemorrhagic telangiectasia: arteriovenous malformations in children. 72
Two novel cases of compound heterozygous mutations in mitofusin2: Finding out the inheritance 72
Cyclin E and chromosome instability in colorectal cancer cell lines 71
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
Primary melanoma of the testis: myth 71
Endoglin gene mutations and polymorphisms in Italian patients with hereditary haemorrhagic telangiectasia 71
null 70
DHPLC-based mutation analysis of ENG and ALK-1 genes in HHT Italian population 70
Gastric polyposis and desmoid tumours as a new familial adenomatous polyposis clinical variant associated with APC mutation at the extreme 3′-end 70
A silent mutation in exon 14 of the APC gene is associated with exon skipping in a FAP family 69
Infertility in carriers of two bisatellited marker chromosomes 68
Survey of KRAS, BRAF and PIK3CA mutational status in 209 consecutive Italian colorectal cancer patients 68
Four novel mutations of the APC (adenomatous polyposis coli) gene in FAP patients 67
Cancer risk associated with STK11/LKB1 germline mutations in Peutz-Jeghers syndrome patients: Results of an Italian multicenter study 65
Cardiac and neuromuscular features of patients with LMNA-related cardiomyopathy 65
Germline pathogenic variant in PIK3CA leading to symmetrical overgrowth with marked macrocephaly and mild global developmental delay 64
Distribution of DYS391, DYS392, DYS393, DYS385, alleles in a southern Italian population sample 63
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. 63
null 63
Identification and surveillance of 19 Lynch syndrome families in southern Italy: report of six novel germline mutations and a common founder mutation 62
Molecular and clinical characteristics in 46 families affected with peutz-jeghers syndrome 61
Distribution of HumvWA31, HumFESFPS, HumTH01, HumTPOX, HumCD4, HumCSF1PO alleles in a southern Italian population sample 60
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 60
A long diagnostic delay in patients with Hereditary Haemorrhagic Telangiectasia: A questionnaire-based retrospective study 59
The molecular characterization of a depurinated trial DNA sample can be a model to understand the reliability of the results in forensic genetics 59
The association of adrenocortical carcinoma and thyroid cancer in a child with Peutz-Jeghers syndrome 58
Cancer risks in LKB1 germline mutation carriers 57
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) 57
Chromosomal microarray (CMA) analysis in infants with congenital anomalies: when is it really helpful? 56
Carcinoma papillare della tiroide e S. di Peutz Jeghers 55
null 55
The 2011 GeFI collaborative exercise. Concordance study, proficiency testing and Italian population data on the new ENFSI/EDNAP loci D1S1656, D2S441, D10S1248, D12S391, D22S1045. 54
null 51
null 50
The longevity SNP rs2802292 uncovered: HSF1 activates stress-dependent expression of FOXO3 through an intronic enhancer. 50
Non-colonic Cancer Stem Cells in Bone Marrow of Colorectal Cancer Patients 50
First evidence of a therapeutic effect of miransertib in a teenager with Proteus syndrome and ovarian carcinoma 50
The familial adenomatous polyposis region exhibits many different haplotypes 49
The DOG1 scoring system in GIST: a novel factor for measurement of the recurrence risk 49
Old treatments for new genetic conditions: Sirolimus therapy in a child affected by mosaic overgrowth with fibroadipose hyperplasia 49
A homozygous frameshift mutation in the ESCO2 gene: evidence of intertissue and interindividual variation in NMD efficiency 48
Gait disturbance and lower limb pain in a patient with PIK3CA-related disorder 48
null 48
Intestinal renin-angiotensin system is stimulated after deletion of Lkb1 47
Novel scn5a p.W697x nonsense mutation segregation in a family with brugada syndrome 44
null 42
Limb hypertrophy: A skin vascular malformation and bilateral hydroureteronephrosis in a neonate 42
null 41
null 40
Clinical findings in a family with FAP and a missense mutation of APC gene 40
Teleangiectasia emorragica ereditaria (HHT): nuove mutazioni nei geni eng e alk-1 e correlazione genotipo-fenotipo 40
Relation between detoxification enzyme polymorphism and genotoxic cytogenetic biomarkers 39
null 38
The Italian National External quality assessment program in molecular genetic testing: results of the VII roun 38
In silico and in vivo analysis of MLH1 and MSH2 missense mutations shows exon- and tissue-specific effects 38
Esiste un’influenza dei polimorfismi dell’enzima epossi-idrolasi microsomiale(mEH) sui marcatori citogenetici di danno genotossico? 38
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 38
null 37
Bioinformatica applicata alla consulenza genetica 37
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 37
Cytogenetics and molecular studies in infertile males 36
Analisi mutazionale dei geni hMSH2 e hMLH2 in soggetti con cancro colorettale ad insorgenza precoce. 36
Microcephaly-Capillary Malformation Syndrome 36
Papillary thyroid carcinoma in Peutz Jeghers Syndrome: a case report 35
Totale 6426
Categoria #
all - tutte 16869
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 16869

Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2017/2018283 0000 00 0253 15456
2018/2019885 712629 2971 161 3131278302
2019/20202269 34212673199 237151 233203 26616120474
2020/20211714 1199711597 25081 205140 151220121118
2021/20221125 891382131 3487 7559 6195198237
2022/20231201 236213120142 188268 340 0000
Totale 7746