CRIS Current Research Information System

TURCHETTI, DANIELA
 Distribuzione geografica
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Continente #
AS - Asia 6.463
NA - Nord America 5.928
EU - Europa 4.345
SA - Sud America 397
AF - Africa 359
OC - Oceania 9
Continente sconosciuto - Info sul continente non disponibili 2
Totale 17.503
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Nazione #
US - Stati Uniti d'America 5.848
VN - Vietnam 1.999
SG - Singapore 1.642
CN - Cina 1.474
IT - Italia 1.298
GB - Regno Unito 642
DE - Germania 539
HK - Hong Kong 442
SE - Svezia 397
BR - Brasile 289
IN - India 261
FR - Francia 257
KR - Corea 194
FI - Finlandia 187
NL - Olanda 185
RU - Federazione Russa 173
IE - Irlanda 160
CI - Costa d'Avorio 102
CH - Svizzera 95
JP - Giappone 93
ZA - Sudafrica 84
UA - Ucraina 82
TG - Togo 67
AT - Austria 57
ID - Indonesia 57
SC - Seychelles 50
EE - Estonia 47
AR - Argentina 45
CA - Canada 43
PH - Filippine 42
BG - Bulgaria 41
BD - Bangladesh 34
JO - Giordania 32
TH - Thailandia 30
BE - Belgio 28
HR - Croazia 24
TR - Turchia 24
IQ - Iraq 23
PK - Pakistan 23
ES - Italia 22
MX - Messico 21
PL - Polonia 20
TW - Taiwan 18
EC - Ecuador 16
LT - Lituania 16
NG - Nigeria 14
UZ - Uzbekistan 14
SA - Arabia Saudita 12
DZ - Algeria 11
GR - Grecia 11
PT - Portogallo 10
DK - Danimarca 9
CO - Colombia 8
CZ - Repubblica Ceca 8
IR - Iran 8
PE - Perù 8
PY - Paraguay 8
RO - Romania 8
VE - Venezuela 8
CL - Cile 7
UY - Uruguay 7
AU - Australia 6
EG - Egitto 6
KE - Kenya 6
RS - Serbia 6
HU - Ungheria 5
IL - Israele 5
LB - Libano 5
OM - Oman 5
AE - Emirati Arabi Uniti 4
AZ - Azerbaigian 4
JM - Giamaica 4
MD - Moldavia 4
NP - Nepal 4
TN - Tunisia 4
CG - Congo 3
DO - Repubblica Dominicana 3
LV - Lettonia 3
MA - Marocco 3
MY - Malesia 3
NO - Norvegia 3
NZ - Nuova Zelanda 3
SK - Slovacchia (Repubblica Slovacca) 3
CR - Costa Rica 2
ET - Etiopia 2
EU - Europa 2
HN - Honduras 2
KG - Kirghizistan 2
KH - Cambogia 2
PR - Porto Rico 2
PS - Palestinian Territory 2
SN - Senegal 2
AO - Angola 1
BA - Bosnia-Erzegovina 1
BJ - Benin 1
BO - Bolivia 1
BY - Bielorussia 1
CY - Cipro 1
GE - Georgia 1
GH - Ghana 1
Totale 17.492
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Città #
Singapore 1.145
Ashburn 727
Fairfield 544
Southend 531
Ho Chi Minh City 480
Hefei 418
Hong Kong 405
Hanoi 397
Chandler 389
Bologna 363
San Jose 276
Houston 259
Santa Clara 252
Woodbridge 231
Seattle 215
Cambridge 199
Wilmington 189
Beijing 169
Princeton 168
Seoul 167
Dallas 162
Dublin 159
Ann Arbor 158
Helsinki 156
Boardman 141
Los Angeles 125
Munich 120
Dong Ket 119
Milan 115
Lauterbourg 114
Abidjan 102
New York 88
Council Bluffs 78
Tokyo 75
Da Nang 74
Bern 73
Haiphong 68
Lomé 67
Nanjing 62
Redmond 58
Westminster 57
Padova 52
Redondo Beach 49
Berlin 48
Dearborn 46
Vienna 45
Rome 43
Florence 42
Bengaluru 41
Sofia 41
Buffalo 40
Frankfurt am Main 37
Jakarta 37
San Diego 37
Saint Petersburg 36
Nuremberg 33
Hải Dương 32
Amman 31
São Paulo 31
Guangzhou 30
Amsterdam 29
Turin 29
Shenyang 27
Chicago 26
Des Moines 26
Brussels 25
Jinan 25
Jacksonville 24
Johannesburg 24
Hebei 23
Biên Hòa 22
Falls Church 22
Lappeenranta 21
Orem 19
Thái Nguyên 19
Warsaw 19
Bremen 18
Brooklyn 18
Paris 18
Shanghai 18
Hangzhou 17
London 17
Naples 17
Can Tho 16
Tianjin 16
Bến Tre 15
Chennai 15
Nanchang 15
Verona 15
Yubileyny 15
Hyderabad 14
Montreal 14
Phoenix 14
Shenzhen 14
Falkenstein 13
Stockholm 13
Toronto 13
Zhengzhou 13
Bangkok 12
Bắc Giang 12
Totale 11.188
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Nome #
BRCA1 p.His1673del is a pathogenic mutation associated with a predominant ovarian cancer phenotype 335
Atypical cancer risk profile in carriers of Italian founder BRCA1 variant p.His1673del: Implications for classification and clinical management 314
A mutation in PAK3 with a dual molecular effect deregulates the RAS/MAPK pathway and drives an X-linked syndromic phenotype. 305
Specific Toxicity of Maintenance Olaparib Versus Placebo in Advanced Malignancies: A Systematic Review and Meta-analysis 301
Prognostic Impact of Pathologic Features in Molecular Subgroups of Endometrial Carcinoma 279
Multi-Gene Next-Generation Sequencing Panel for Analysis of BRCA1/BRCA2 and Homologous Recombination Repair Genes Alterations Metastatic Castration-Resistant Prostate Cancer 265
An analysis of clinical, surgical, pathological and molecular characteristics of endometrial cancer according to mismatch repair status. A multidisciplinary approach 247
CDKN2A and BAP1 germline mutations predispose to melanoma and mesothelioma 242
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 241
Detecting Variants in the NBN Gene While Testing for Hereditary Breast Cancer: What to Do Next? 235
A regional population-based hereditary breast cancer screening tool in Italy: First 5-year results 233
What is new on ovarian carcinoma: Integrated morphologic and molecular analysis following the new 2020 world health organization classification of female genital tumors 232
Attitudes of women of advanced maternal age undergoing invasive prenatal diagnosis and the impact of genetic counselling 231
Pancreatic mucinous cystadenocarcinoma in a patient harbouring BRCA1 germline mutation effectively treated with olaparib: A case report 230
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 227
Somatic APC mosaicism and oligogenic inheritance in genetically unsolved colorectal adenomatous polyposis patients 220
Interplay between WNT/PI3K-mTOR axis and the microbiota in APC-driven colorectal carcinogenesis: data from a pilot study and possible implications for CRC prevention 217
INTRAHEPATIC CHOLANGIOCARCINOMA DEVELOPMENT IN A PATIENT WITH A NOVEL BAP1 GERMLINE MUTATION AND LOW EXPOSURE TO ASBESTOS 216
Arid1a and ctnnb1/β-catenin molecular status affects the clinicopathologic features and prognosis of endometrial carcinoma: Implications for an improved surrogate molecular classification 216
The importance of a multidisciplinary approach in two tricky cases: the perfect match for Fabry disease 214
Clinical implications of VUS reclassification in a single-centre series from application of ACMG/AMP classification rules specified for BRCA1/2 206
Cytogenetic and molecular characterization of a recombinant X chromosome in a family with a severe neurologic phenotype and macular degeneration 203
Mowat-Wilson syndrome: Facial phenotype changing with age: Study of 19 Italian patients and review of the literature 201
Long read sequencing on its way to the routine diagnostics of genetic diseases 189
Effectiveness and Impact of Transcript Analysis in Clinical Genetics Daily Practice 183
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 181
The need for clinical, genetic and radiological characterization of atypical polycystic kidney disease 175
Pathogenic Mitochondrial DNA Mutation Load Inversely Correlates with Malignant Features in Familial Oncocytic Parathyroid Tumors Associated with Hyperparathyroidism-Jaw Tumor Syndrome 175
miR-155 Is Downregulated in Familial Adenomatous Polyposis and Modulates WNT Signaling by Targeting AXIN1 and TCF4 174
Dealing With BRCA1/2 unclassified variants in a cancer genetics clinic: Does cosegregation analysis help? 174
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 174
Where Birt-Hogg-Dubé meets Cowden Syndrome: Mirrored genetic defects in two cases of syndromic oncocytic tumours 173
A novel p63 mutation in a fetus with ultrasound detection of split hand/foot malformation. 168
PTEN Hamartoma Tumor Syndrome: Skin Manifestations and Insights Into Their Molecular Pathogenesis 166
A systematic review of factors influencing uptake of invasive fetal genetic testing by pregnant women of advanced maternal age 163
Cascade genetic testing in hereditary cancer: exploring the boundaries of the Italian legal framework 163
Development of a risk score based on clinical–pathological features to predict the presence of germline BRCA1/2 pathogenic variants in ovarian cancer patients 162
Rasal1 and ros1 gene variants in hereditary breast cancer 161
Colorectal polyposis as a clue to the diagnosis of Cowden syndrome: Report of two cases and literature review 161
SDHA Germline Variants in Adult Patients With SDHA-Mutant Gastrointestinal Stromal Tumor 160
A novel deleterious PTEN mutation in a patient with early-onset bilateral breast cancer. 159
Primary malignant pericardial tumour in Lynch syndrome 158
Microsatellite instabilityDNA testing in routinely processed colorectal carcinomas: correlation with clinicopathologic and survival data in 340 consecutive cases 157
Genetic counseling: A survey to explore knowledge and attitudes of Italian nurses and midwives 157
Persistence of a Monosomic Cell Line in a Fetus with Mosaic Trisomy 8 154
Type and frequency of MUTYH variants in Italian patients with suspected MAP: A retrospective multicenter study 153
MYO7A mutation screening in Usher syndrome type I patients from diverse origins. 151
Novel Glial Cells Missing-2 (GCM2) variants in parathyroid disorders 150
Clinical genetic testing for familial melanoma in Italy: a cooperative study 150
null 150
COLLECTIVE EVIDENCE SUPPORTS NEUTRALITY OF BRCA1 V1687I, A NOVEL SEQUENCE VARIANT IN THE CONSERVED THV MOTIF OF THE FIRST BRCT REPEAT 150
Breast cancer screening in women at increased risk according to different family histories: an update of the Modena Study Group experience 148
A de novo nonsense mutation of PAX6 gene in a patient with aniridia, ataxia, and mental retardation 148
Assessment of the InSiGHT Interpretation Criteria for the Clinical Classification of 24 MLH1 and MSH2 Gene Variants 148
BRCA2 in Ovarian Development and Function 147
Cancer risks by sex and variant type in PTEN Hamartoma Tumor Syndrome 145
Large deletion at the CDC73 gene locus and search for predictive markers of the presence of a CDC73 genetic lesion 145
Characterization of BRCA Deficiency in Ovarian Cancer 145
Two distinct thyroid tumours in a Cowden Syndrome patient carrying both a 10q23 and a mitochondrial DNA germline deletion 144
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 143
Knowledge of genetics and the role of the nurse in genetic health care: a survey of Italian nurses 142
Cancer risk associated with STK11/LKB1 germline mutations in Peutz–Jeghers syndrome patients: Results of an Italian multicenter study 140
Decision making and experiences of young adults undergoing presymptomatic genetic testing for familial cancer: A longitudinal grounded theory study 140
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 136
Multicenter comparative multimodality surveillance of women at genetic-familial high risk for breast cancer (HIBCRIT Study): Interim results 135
PREVALENCE OF GJB2 , GJB6 AND A1555G MUTATIONS IN THE ITALIAN POPULATION 134
Psychological consequences of prenatal diagnosis in a case of familial Angelman syndrome 133
Impact of Genetic Counseling in Women with a Family History of Breast Cancer in Italy 129
Communication of Clinically Useful Next-Generation Sequencing Results to At-Risk Relatives of Deceased Research Participants: Toward Active Disclosure? 127
An oncologist-based model of Cancer Genetic Counseling for Hereditary Breast and Ovarian Cancer 127
Presymptomatic genetic testing for hereditary cancer in young adults: a survey of young adults and parents 127
Clinical histopathological features and CDKN2A/CDK4/MITF mutational status of patients with multiple primary melanomas from Bologna: Italy is a fascinating but complex mosaic 127
Clinical genetic services in the Emilia-Romagna region, Italy: current activity and open issues: a mixed-method study 126
A systematic review of interventions to provide genetics education for primary care 125
Preferences of Italian patients for return of secondary findings from clinical genome/exome sequencing 125
Update of penetrance estimates in Birt-Hogg-Dubé syndrome 124
Development and Validation of an Italian Adaptation of the Psychosocial Aspects of Hereditary Cancer Questionnaire 124
Implementing genetic education in primary care: the Gen-Equip programme 122
Test genetici e consenso informato 119
Sudden shift to remote genetic counseling during the COVID-19 pandemic: Experiences of genetics professionals in Italy 119
Aspirin Colorectal Cancer Prevention in Lynch Syndrome: Recommendations in the Era of Precision Medicine 116
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. 115
Primary constitutional MLH1 epimutations: a focal epigenetic event 115
Variation in the risk of colorectal cancer in families with Lynch syndrome: a retrospective cohort study 114
Comment on 'Cancer genetic counselling' by P. Mandich et al. (Ann Oncol 2005; 16: 171). 112
Integrating BRCA testing into routine prostate cancer care: a multidisciplinary approach by SIUrO and other Italian Scientific Societies 111
Impact of presymptomatic genetic testing on young adults: A systematic review 111
The Gen-Equip Project: evaluation and impact of genetics e-learning resources for primary care in six European languages 111
BRCA-Associated Ovarian Cancer: From Molecular Genetics to Risk Management 110
MLH1constitutional and somatic methylation in patients with MLH1 negative tumors fulfilling the revised Bethesda criteria 104
HER2-Low Expression in Male Breast Cancer: Results from a Multicenter Series in Italy 103
Factors predicting BRCA1/2 pathogenic variants in patients with ovarian cancer: a systematic review with meta-analysis 100
Malignant and benign tumors associated with multiple primary melanomas: just the starting block for the involvement ofMITF, PTENandCDKN2Ain multiple cancerogenesis? 100
A clinically applicable integrated molecular, immunohistochemical and histological approach for endometrial carcinoma. 99
Hypothesis on the possible relevance of the immunogenic cell death in the treatment of gestational trophoblastic neoplasms 98
Evaluation of an Italian Population-Based Programme for Risk Assessment and Genetic Counselling and Testing for BRCA1/2-Related Hereditary Breast and Ovarian Cancer after 10 Years of Operation: An Observational Study Protocol 95
Correction: Intrafamilial communication of hereditary breast and ovarian cancer genetic information in Italian women: towards a personalised approach 95
Ductal invasive carcinoma arising within atypical microglandular adenosis in a patient with BRCA-1 mutation: A case report. 91
I test genetici in Oncologia 90
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 89
Totale 16.174
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Categoria #
all - tutte 48.544
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 48.544
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2020/2021533 0 0 0 0 0 0 0 0 0 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
2024/20253.002 128 321 247 181 383 197 245 179 113 231 210 567
2025/20267.182 751 698 764 604 703 372 1.154 256 1.364 516 0 0
Totale 17.856