CRIS Current Research Information System

TURCHETTI, DANIELA
 Distribuzione geografica
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Continente #
NA - Nord America 3.897
EU - Europa 2.758
AS - Asia 1.127
AF - Africa 177
OC - Oceania 3
SA - Sud America 3
Continente sconosciuto - Info sul continente non disponibili 2
Totale 7.967
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Nazione #
US - Stati Uniti d'America 3.892
IT - Italia 716
GB - Regno Unito 587
SE - Svezia 383
VN - Vietnam 339
DE - Germania 331
SG - Singapore 281
CN - Cina 272
IN - India 157
IE - Irlanda 147
FR - Francia 102
RU - Federazione Russa 92
CH - Svizzera 86
TG - Togo 67
UA - Ucraina 66
ZA - Sudafrica 51
EE - Estonia 47
BG - Bulgaria 41
CI - Costa d'Avorio 40
AT - Austria 34
FI - Finlandia 30
JO - Giordania 28
BE - Belgio 20
HR - Croazia 18
NG - Nigeria 12
NL - Olanda 12
GR - Grecia 8
TR - Turchia 8
CZ - Repubblica Ceca 7
PK - Pakistan 6
UZ - Uzbekistan 6
CA - Canada 5
ES - Italia 5
IR - Iran 5
SC - Seychelles 5
BD - Bangladesh 4
DK - Danimarca 4
LB - Libano 4
PT - Portogallo 4
HU - Ungheria 3
ID - Indonesia 3
RO - Romania 3
SK - Slovacchia (Repubblica Slovacca) 3
AE - Emirati Arabi Uniti 2
AU - Australia 2
BR - Brasile 2
DZ - Algeria 2
EU - Europa 2
HK - Hong Kong 2
JP - Giappone 2
KR - Corea 2
LV - Lettonia 2
PL - Polonia 2
RS - Serbia 2
CL - Cile 1
CY - Cipro 1
IQ - Iraq 1
KG - Kirghizistan 1
LT - Lituania 1
MC - Monaco 1
NO - Norvegia 1
NZ - Nuova Zelanda 1
PH - Filippine 1
PS - Palestinian Territory 1
TW - Taiwan 1
Totale 7.967
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Città #
Fairfield 544
Southend 531
Chandler 389
Ashburn 294
Houston 256
Singapore 250
Woodbridge 230
Bologna 210
Seattle 207
Cambridge 199
Wilmington 188
Princeton 168
Ann Arbor 158
Dublin 146
Dong Ket 119
Bern 73
Lomé 67
Nanjing 58
Redmond 58
Westminster 57
Milan 49
Berlin 48
Padova 47
Dearborn 46
Santa Clara 46
New York 42
Sofia 41
Abidjan 40
San Diego 37
Saint Petersburg 36
Florence 34
Vienna 33
Helsinki 29
Amman 28
Des Moines 26
Turin 26
Hebei 23
Jacksonville 23
Shenyang 23
Falls Church 22
Jinan 22
Beijing 20
Brussels 19
Bremen 18
Nanchang 15
Boardman 14
Los Angeles 14
Hyderabad 13
Redwood City 12
Rome 12
Abeokuta 11
Jiaxing 11
Mülheim 11
Olalla 11
Paris 11
Tianjin 10
Medford 9
Norwalk 9
Bühl 8
Changsha 8
Genoa 7
Hangzhou 7
Modena 7
Verona 7
Zhengzhou 7
Lanzhou 6
Pisa 6
Brno 5
Casalecchio di Reno 5
Kuban 5
Kunming 5
Ningbo 5
Pedrengo 5
Pune 5
Scandiano 5
Torino 5
Boydton 4
Castel Maggiore 4
Falkenstein 4
Geneve 4
Groningen 4
Impruneta 4
Istanbul 4
Mahé 4
Montechiarugolo 4
Mountain View 4
Taizhou 4
Tappahannock 4
Varazdin 4
Amsterdam 3
Avegno 3
Bratislava 3
Brescia 3
Council Bluffs 3
Dhaka 3
Ferrara 3
Forlì 3
Frankfurt Am Main 3
Frankfurt am Main 3
Guangzhou 3
Totale 5.336
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Nome #
A mutation in PAK3 with a dual molecular effect deregulates the RAS/MAPK pathway and drives an X-linked syndromic phenotype. 242
BRCA1 p.His1673del is a pathogenic mutation associated with a predominant ovarian cancer phenotype 182
Attitudes of women of advanced maternal age undergoing invasive prenatal diagnosis and the impact of genetic counselling 168
Specific Toxicity of Maintenance Olaparib Versus Placebo in Advanced Malignancies: A Systematic Review and Meta-analysis 155
null 150
Mowat-Wilson syndrome: Facial phenotype changing with age: Study of 19 Italian patients and review of the literature 137
Somatic APC mosaicism and oligogenic inheritance in genetically unsolved colorectal adenomatous polyposis patients 137
An analysis of clinical, surgical, pathological and molecular characteristics of endometrial cancer according to mismatch repair status. A multidisciplinary approach 137
A regional population-based hereditary breast cancer screening tool in Italy: First 5-year results 134
Cytogenetic and molecular characterization of a recombinant X chromosome in a family with a severe neurologic phenotype and macular degeneration 128
T([20]) repeat in the 3'-untranslated region of the MT1X gene: a marker with high sensitivity and specificity to detect microsatellite instability in colorectal cancer 126
CDKN2A and BAP1 germline mutations predispose to melanoma and mesothelioma 126
Breast cancer screening in women at increased risk according to different family histories: an update of the Modena Study Group experience 122
Detecting Variants in the NBN Gene While Testing for Hereditary Breast Cancer: What to Do Next? 121
Where Birt-Hogg-Dubé meets Cowden Syndrome: Mirrored genetic defects in two cases of syndromic oncocytic tumours 120
A systematic review of factors influencing uptake of invasive fetal genetic testing by pregnant women of advanced maternal age 119
Pancreatic mucinous cystadenocarcinoma in a patient harbouring BRCA1 germline mutation effectively treated with olaparib: A case report 118
Clinical genetic testing for familial melanoma in Italy: a cooperative study 116
Dealing With BRCA1/2 unclassified variants in a cancer genetics clinic: Does cosegregation analysis help? 116
Identification of BRCA1/2 p.Ser1613Gly, p.Pro871Leu, p.Lys1183Arg, p.Glu1038Gly, p.Ser1140Gly, p.Ala2466Val, p.His2440Arg variants in women under 45 years old with breast nodules suspected of having breast cancer in Burkina Faso 116
A novel p63 mutation in a fetus with ultrasound detection of split hand/foot malformation. 115
Genetic counseling: A survey to explore knowledge and attitudes of Italian nurses and midwives 115
Cancer risk associated with STK11/LKB1 germline mutations in Peutz–Jeghers syndrome patients: Results of an Italian multicenter study 112
INTRAHEPATIC CHOLANGIOCARCINOMA DEVELOPMENT IN A PATIENT WITH A NOVEL BAP1 GERMLINE MUTATION AND LOW EXPOSURE TO ASBESTOS 111
MYO7A mutation screening in Usher syndrome type I patients from diverse origins. 110
A novel deleterious PTEN mutation in a patient with early-onset bilateral breast cancer. 110
Type and frequency of MUTYH variants in Italian patients with suspected MAP: A retrospective multicenter study 109
Persistence of a Monosomic Cell Line in a Fetus with Mosaic Trisomy 8 108
Arid1a and ctnnb1/β-catenin molecular status affects the clinicopathologic features and prognosis of endometrial carcinoma: Implications for an improved surrogate molecular classification 108
A de novo nonsense mutation of PAX6 gene in a patient with aniridia, ataxia, and mental retardation 107
Assessment of the InSiGHT Interpretation Criteria for the Clinical Classification of 24 MLH1 and MSH2 Gene Variants 107
An oncologist-based model of Cancer Genetic Counseling for Hereditary Breast and Ovarian Cancer 106
miR-155 Is Downregulated in Familial Adenomatous Polyposis and Modulates WNT Signaling by Targeting AXIN1 and TCF4 105
Psychological consequences of prenatal diagnosis in a case of familial Angelman syndrome 103
COLLECTIVE EVIDENCE SUPPORTS NEUTRALITY OF BRCA1 V1687I, A NOVEL SEQUENCE VARIANT IN THE CONSERVED THV MOTIF OF THE FIRST BRCT REPEAT 103
Communication of Clinically Useful Next-Generation Sequencing Results to At-Risk Relatives of Deceased Research Participants: Toward Active Disclosure? 102
A systematic review of interventions to provide genetics education for primary care 99
Microsatellite instabilityDNA testing in routinely processed colorectal carcinomas: correlation with clinicopathologic and survival data in 340 consecutive cases 97
Decision making and experiences of young adults undergoing presymptomatic genetic testing for familial cancer: A longitudinal grounded theory study 97
Implementing genetic education in primary care: the Gen-Equip programme 96
Large deletion at the CDC73 gene locus and search for predictive markers of the presence of a CDC73 genetic lesion 96
Multicenter comparative multimodality surveillance of women at genetic-familial high risk for breast cancer (HIBCRIT Study): Interim results 93
Pathogenic Mitochondrial DNA Mutation Load Inversely Correlates with Malignant Features in Familial Oncocytic Parathyroid Tumors Associated with Hyperparathyroidism-Jaw Tumor Syndrome 89
Two distinct thyroid tumours in a Cowden Syndrome patient carrying both a 10q23 and a mitochondrial DNA germline deletion 88
Rasal1 and ros1 gene variants in hereditary breast cancer 88
Impact of Genetic Counseling in Women with a Family History of Breast Cancer in Italy 88
BRCA2 in Ovarian Development and Function 87
PTEN Hamartoma Tumor Syndrome: Skin Manifestations and Insights Into Their Molecular Pathogenesis 87
Comment on 'Cancer genetic counselling' by P. Mandich et al. (Ann Oncol 2005; 16: 171). 85
SDHA Germline Variants in Adult Patients With SDHA-Mutant Gastrointestinal Stromal Tumor 85
Knowledge of genetics and the role of the nurse in genetic health care: a survey of Italian nurses 82
Test genetici e consenso informato 80
Impact of presymptomatic genetic testing on young adults: A systematic review 79
Colorectal polyposis as a clue to the diagnosis of Cowden syndrome: Report of two cases and literature review 79
null 78
Presymptomatic genetic testing for hereditary cancer in young adults: a survey of young adults and parents 76
Primary constitutional MLH1 epimutations: a focal epigenetic event 76
MLH1constitutional and somatic methylation in patients with MLH1 negative tumors fulfilling the revised Bethesda criteria 74
PREVALENCE OF GJB2 , GJB6 AND A1555G MUTATIONS IN THE ITALIAN POPULATION 74
Multicenter surveillance of women at high genetic breast cancer risk using mammography, ultrasonography, and contrast-enhanced magnetic resonance imaging (the high breast cancer risk italian 1 study): final results. 73
Primary malignant pericardial tumour in Lynch syndrome 72
Malignant and benign tumors associated with multiple primary melanomas: just the starting block for the involvement ofMITF, PTENandCDKN2Ain multiple cancerogenesis? 69
Performance of BOADICEA and BRCAPRO genetic models and of empirical criteria based on cancer family history for predicting BRCA mutation carrier probabilities: A retrospective study in a sample of Italian cancer genetics clinics 69
Results and clinical interpretation of germline RET analysis in a series of patients with medullary thyroid carcinoma: The challenge of the variants of uncertain significance 66
Multi-Gene Next-Generation Sequencing Panel for Analysis of BRCA1/BRCA2 and Homologous Recombination Repair Genes Alterations Metastatic Castration-Resistant Prostate Cancer 65
null 64
Clinical histopathological features and CDKN2A/CDK4/MITF mutational status of patients with multiple primary melanomas from Bologna: Italy is a fascinating but complex mosaic 62
Chromoendoscopy is not superior to white light endoscopy in improving adenoma detection in Lynch Syndrome cohort undergoing surveillance with high-resolution colonoscopy: a real-world evidence study 60
I test genetici in Oncologia 59
What is new on ovarian carcinoma: Integrated morphologic and molecular analysis following the new 2020 world health organization classification of female genital tumors 59
Variation in the risk of colorectal cancer in families with Lynch syndrome: a retrospective cohort study 55
Preferences of Italian patients for return of secondary findings from clinical genome/exome sequencing 53
The Gen-Equip Project: evaluation and impact of genetics e-learning resources for primary care in six European languages 52
Development and Validation of an Italian Adaptation of the Psychosocial Aspects of Hereditary Cancer Questionnaire 51
Characterization of BRCA Deficiency in Ovarian Cancer 48
Prognostic Impact of Pathologic Features in Molecular Subgroups of Endometrial Carcinoma 47
Hypothesis on the possible relevance of the immunogenic cell death in the treatment of gestational trophoblastic neoplasms 45
A clinically applicable integrated molecular, immunohistochemical and histological approach for endometrial carcinoma. 43
BRAF and MLH1 Analysis Algorithm for the Evaluation of Lynch Syndrome Risk in Colorectal Carcinoma Patients: Evidence-Based Data from the Analysis of 100 Consecutive Cases 42
Ductal invasive carcinoma arising within atypical microglandular adenosis in a patient with BRCA-1 mutation: A case report. 40
Correction: Intrafamilial communication of hereditary breast and ovarian cancer genetic information in Italian women: towards a personalised approach 40
Sudden shift to remote genetic counseling during the COVID-19 pandemic: Experiences of genetics professionals in Italy 40
BRCA-Associated Ovarian Cancer: From Molecular Genetics to Risk Management 38
Definition and management of colorectal polyposis not associated with APC/MUTYH germline pathogenic variants: AIFEG consensus statement 33
Update of penetrance estimates in Birt-Hogg-Dubé syndrome 31
High-grade serous carcinoma: a comprehensive genetic and clinico-pathologic study of a heterogeneous neoplasm. 31
Factors predicting BRCA1/2 pathogenic variants in patients with ovarian cancer: a systematic review with meta-analysis 30
Aspirin Colorectal Cancer Prevention in Lynch Syndrome: Recommendations in the Era of Precision Medicine 29
Integrated clinicopathologic and molecular analysis of endometrial carcinoma: Prognostic impact of the new ESGO-ESTRO-ESP endometrial cancer risk classification and proposal of histopathologic algorithm for its implementation in clinical practice 28
Intrafamilial communication of hereditary breast and ovarian cancer genetic information in Italian women: towards a personalised approach 28
BRCA and High-Grade Serous Carcinoma: a Morphological, Immunohistochemical and Genetic Study. 27
Integrated Molecular and Clinicopathologic Study of Tubo-Ovarian High-Grade Serous Carcinoma 25
Long read sequencing on its way to the routine diagnostics of genetic diseases 24
Genetic counselling as a route to enhanced autonomy: using a sequential mixed methods research approach to develop a theory regarding presymptomatic genetic testing for young adults at risk of inherited cancer syndromes 23
Implementation of preventive and predictive BRCA testing in patients with breast, ovarian, pancreatic, and prostate cancer: a position paper of Italian Scientific Societies 21
Cancer risks by sex and variant type in PTEN Hamartoma Tumor Syndrome 20
Novel Glial Cells Missing-2 (GCM2) variants in parathyroid disorders 15
Favourable ten-year overall survival in a Caucasian population with high probability of hereditary breast cancer 15
Pathologic findings in risk-reducing salpingo-oophorectomy (RRSO) in women with BRCA1 or BRCA2 mutations: a single center experience. 14
Supporting the hypothesis of a dualistic model for high-grade serous carcinoma: a genetic and pathological study. 14
Totale 8.194
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Categoria #
all - tutte 24.038
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 24.038
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2019/20201.517 0 0 8 94 196 216 240 242 245 115 62 99
2020/20211.166 183 84 37 63 20 38 44 57 107 51 59 423
2021/20221.656 138 82 101 149 147 85 61 120 74 89 394 216
2022/20231.908 166 222 103 232 126 148 73 119 325 75 161 158
2023/2024654 61 86 42 43 46 120 23 61 30 51 35 56
2024/2025556 128 321 107 0 0 0 0 0 0 0 0 0
Totale 8.228