CRIS Current Research Information System

TURCHETTI, DANIELA
 Distribuzione geografica
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Continente #
NA - Nord America 5.233
AS - Asia 4.326
EU - Europa 3.845
SA - Sud America 322
AF - Africa 316
OC - Oceania 8
Continente sconosciuto - Info sul continente non disponibili 2
Totale 14.052
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Nazione #
US - Stati Uniti d'America 5.182
SG - Singapore 1.392
CN - Cina 1.263
IT - Italia 1.139
VN - Vietnam 697
GB - Regno Unito 619
DE - Germania 508
SE - Svezia 390
HK - Hong Kong 360
BR - Brasile 243
IN - India 220
KR - Corea 169
RU - Federazione Russa 169
NL - Olanda 164
IE - Irlanda 153
FR - Francia 132
FI - Finlandia 127
CI - Costa d'Avorio 102
CH - Svizzera 92
UA - Ucraina 76
TG - Togo 67
ZA - Sudafrica 63
AT - Austria 56
ID - Indonesia 50
JP - Giappone 50
SC - Seychelles 50
EE - Estonia 47
BG - Bulgaria 41
AR - Argentina 34
CA - Canada 31
JO - Giordania 29
BE - Belgio 22
HR - Croazia 20
BD - Bangladesh 19
MX - Messico 16
TR - Turchia 16
NG - Nigeria 13
ES - Italia 12
PL - Polonia 12
EC - Ecuador 11
LT - Lituania 11
DK - Danimarca 9
PK - Pakistan 9
DZ - Algeria 8
GR - Grecia 8
PE - Perù 8
UZ - Uzbekistan 8
CZ - Repubblica Ceca 7
IR - Iran 7
PT - Portogallo 7
CO - Colombia 6
UY - Uruguay 6
AU - Australia 5
CL - Cile 5
IQ - Iraq 5
PY - Paraguay 5
RO - Romania 5
AE - Emirati Arabi Uniti 4
EG - Egitto 4
HU - Ungheria 4
LB - Libano 4
PH - Filippine 4
RS - Serbia 4
VE - Venezuela 4
IL - Israele 3
LV - Lettonia 3
NZ - Nuova Zelanda 3
OM - Oman 3
SK - Slovacchia (Repubblica Slovacca) 3
AZ - Azerbaigian 2
CG - Congo 2
EU - Europa 2
KE - Kenya 2
KG - Kirghizistan 2
MD - Moldavia 2
NP - Nepal 2
TN - Tunisia 2
TW - Taiwan 2
AO - Angola 1
BJ - Benin 1
BY - Bielorussia 1
CY - Cipro 1
DO - Repubblica Dominicana 1
HN - Honduras 1
KH - Cambogia 1
KZ - Kazakistan 1
MC - Monaco 1
MY - Malesia 1
NO - Norvegia 1
PS - Palestinian Territory 1
SA - Arabia Saudita 1
SN - Senegal 1
SV - El Salvador 1
TT - Trinidad e Tobago 1
Totale 14.052
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Città #
Singapore 919
Ashburn 639
Fairfield 544
Southend 531
Hefei 416
Chandler 389
Hong Kong 356
Bologna 334
Houston 259
Santa Clara 238
Woodbridge 230
Seattle 213
Cambridge 199
Wilmington 189
Princeton 168
Seoul 166
Beijing 160
Ann Arbor 158
Dallas 154
Dublin 152
Boardman 140
Ho Chi Minh City 123
Munich 120
Dong Ket 119
Milan 109
Abidjan 102
Helsinki 100
Hanoi 88
Los Angeles 86
Bern 73
New York 70
Lomé 67
Nanjing 62
Redmond 58
Westminster 57
Padova 52
Redondo Beach 49
Berlin 48
Tokyo 47
Dearborn 46
Vienna 44
Florence 41
Sofia 41
Bengaluru 40
Rome 37
San Diego 37
Jakarta 36
Saint Petersburg 36
Buffalo 35
Amman 29
Nuremberg 29
Turin 28
Shenyang 27
Des Moines 26
Jinan 25
Jacksonville 24
São Paulo 24
Hebei 23
Falls Church 22
Brussels 20
Chicago 20
Amsterdam 19
Bremen 18
Lappeenranta 17
Brooklyn 16
Shanghai 16
Frankfurt am Main 15
Nanchang 15
Tianjin 15
Yubileyny 15
Guangzhou 14
Haiphong 14
Hyderabad 14
Falkenstein 13
Hangzhou 13
Verona 13
Jiaxing 12
Modena 12
Paris 12
Redwood City 12
Toronto 12
Warsaw 12
Zhengzhou 12
Abeokuta 11
Montreal 11
Mülheim 11
Naples 11
Olalla 11
Tongling 11
Castel Maggiore 10
Hải Dương 10
Medford 10
Poplar 10
Shenzhen 10
Biên Hòa 9
London 9
Norwalk 9
Phoenix 9
Salt Lake City 9
San Francisco 9
Totale 9.155
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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. 275
Specific Toxicity of Maintenance Olaparib Versus Placebo in Advanced Malignancies: A Systematic Review and Meta-analysis 269
Atypical cancer risk profile in carriers of Italian founder BRCA1 variant p.His1673del: Implications for classification and clinical management 236
Multi-Gene Next-Generation Sequencing Panel for Analysis of BRCA1/BRCA2 and Homologous Recombination Repair Genes Alterations Metastatic Castration-Resistant Prostate Cancer 234
BRCA1 p.His1673del is a pathogenic mutation associated with a predominant ovarian cancer phenotype 230
Prognostic Impact of Pathologic Features in Molecular Subgroups of Endometrial Carcinoma 217
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 210
Attitudes of women of advanced maternal age undergoing invasive prenatal diagnosis and the impact of genetic counselling 204
An analysis of clinical, surgical, pathological and molecular characteristics of endometrial cancer according to mismatch repair status. A multidisciplinary approach 202
CDKN2A and BAP1 germline mutations predispose to melanoma and mesothelioma 201
A regional population-based hereditary breast cancer screening tool in Italy: First 5-year results 194
Detecting Variants in the NBN Gene While Testing for Hereditary Breast Cancer: What to Do Next? 190
Somatic APC mosaicism and oligogenic inheritance in genetically unsolved colorectal adenomatous polyposis patients 188
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 184
Mowat-Wilson syndrome: Facial phenotype changing with age: Study of 19 Italian patients and review of the literature 178
Cytogenetic and molecular characterization of a recombinant X chromosome in a family with a severe neurologic phenotype and macular degeneration 174
Pancreatic mucinous cystadenocarcinoma in a patient harbouring BRCA1 germline mutation effectively treated with olaparib: A case report 173
INTRAHEPATIC CHOLANGIOCARCINOMA DEVELOPMENT IN A PATIENT WITH A NOVEL BAP1 GERMLINE MUTATION AND LOW EXPOSURE TO ASBESTOS 169
Arid1a and ctnnb1/β-catenin molecular status affects the clinicopathologic features and prognosis of endometrial carcinoma: Implications for an improved surrogate molecular classification 169
Dealing With BRCA1/2 unclassified variants in a cancer genetics clinic: Does cosegregation analysis help? 155
Long read sequencing on its way to the routine diagnostics of genetic diseases 152
miR-155 Is Downregulated in Familial Adenomatous Polyposis and Modulates WNT Signaling by Targeting AXIN1 and TCF4 152
A systematic review of factors influencing uptake of invasive fetal genetic testing by pregnant women of advanced maternal age 152
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 152
null 150
A novel p63 mutation in a fetus with ultrasound detection of split hand/foot malformation. 148
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 147
Genetic counseling: A survey to explore knowledge and attitudes of Italian nurses and midwives 144
Where Birt-Hogg-Dubé meets Cowden Syndrome: Mirrored genetic defects in two cases of syndromic oncocytic tumours 144
A novel deleterious PTEN mutation in a patient with early-onset bilateral breast cancer. 143
MYO7A mutation screening in Usher syndrome type I patients from diverse origins. 142
Breast cancer screening in women at increased risk according to different family histories: an update of the Modena Study Group experience 142
Pathogenic Mitochondrial DNA Mutation Load Inversely Correlates with Malignant Features in Familial Oncocytic Parathyroid Tumors Associated with Hyperparathyroidism-Jaw Tumor Syndrome 141
Persistence of a Monosomic Cell Line in a Fetus with Mosaic Trisomy 8 139
PTEN Hamartoma Tumor Syndrome: Skin Manifestations and Insights Into Their Molecular Pathogenesis 139
The importance of a multidisciplinary approach in two tricky cases: the perfect match for Fabry disease 138
Rasal1 and ros1 gene variants in hereditary breast cancer 136
The need for clinical, genetic and radiological characterization of atypical polycystic kidney disease 135
Type and frequency of MUTYH variants in Italian patients with suspected MAP: A retrospective multicenter study 135
Assessment of the InSiGHT Interpretation Criteria for the Clinical Classification of 24 MLH1 and MSH2 Gene Variants 134
SDHA Germline Variants in Adult Patients With SDHA-Mutant Gastrointestinal Stromal Tumor 134
Clinical genetic testing for familial melanoma in Italy: a cooperative study 133
COLLECTIVE EVIDENCE SUPPORTS NEUTRALITY OF BRCA1 V1687I, A NOVEL SEQUENCE VARIANT IN THE CONSERVED THV MOTIF OF THE FIRST BRCT REPEAT 133
A de novo nonsense mutation of PAX6 gene in a patient with aniridia, ataxia, and mental retardation 132
Microsatellite instabilityDNA testing in routinely processed colorectal carcinomas: correlation with clinicopathologic and survival data in 340 consecutive cases 131
What is new on ovarian carcinoma: Integrated morphologic and molecular analysis following the new 2020 world health organization classification of female genital tumors 131
Cancer risk associated with STK11/LKB1 germline mutations in Peutz–Jeghers syndrome patients: Results of an Italian multicenter study 130
Decision making and experiences of young adults undergoing presymptomatic genetic testing for familial cancer: A longitudinal grounded theory study 129
Colorectal polyposis as a clue to the diagnosis of Cowden syndrome: Report of two cases and literature review 129
Primary malignant pericardial tumour in Lynch syndrome 126
Psychological consequences of prenatal diagnosis in a case of familial Angelman syndrome 124
PREVALENCE OF GJB2 , GJB6 AND A1555G MUTATIONS IN THE ITALIAN POPULATION 123
BRCA2 in Ovarian Development and Function 123
An oncologist-based model of Cancer Genetic Counseling for Hereditary Breast and Ovarian Cancer 121
Two distinct thyroid tumours in a Cowden Syndrome patient carrying both a 10q23 and a mitochondrial DNA germline deletion 120
Knowledge of genetics and the role of the nurse in genetic health care: a survey of Italian nurses 120
Multicenter comparative multimodality surveillance of women at genetic-familial high risk for breast cancer (HIBCRIT Study): Interim results 119
Development of a risk score based on clinical–pathological features to predict the presence of germline BRCA1/2 pathogenic variants in ovarian cancer patients 118
Large deletion at the CDC73 gene locus and search for predictive markers of the presence of a CDC73 genetic lesion 118
A systematic review of interventions to provide genetics education for primary care 116
Communication of Clinically Useful Next-Generation Sequencing Results to At-Risk Relatives of Deceased Research Participants: Toward Active Disclosure? 116
Presymptomatic genetic testing for hereditary cancer in young adults: a survey of young adults and parents 113
Implementing genetic education in primary care: the Gen-Equip programme 112
Impact of Genetic Counseling in Women with a Family History of Breast Cancer in Italy 111
Clinical implications of VUS reclassification in a single-centre series from application of ACMG/AMP classification rules specified for BRCA1/2 110
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 108
Aspirin Colorectal Cancer Prevention in Lynch Syndrome: Recommendations in the Era of Precision Medicine 107
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 107
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 107
Test genetici e consenso informato 104
Clinical genetic services in the Emilia-Romagna region, Italy: current activity and open issues: a mixed-method study 103
Comment on 'Cancer genetic counselling' by P. Mandich et al. (Ann Oncol 2005; 16: 171). 103
Characterization of BRCA Deficiency in Ovarian Cancer 103
Novel Glial Cells Missing-2 (GCM2) variants in parathyroid disorders 102
Impact of presymptomatic genetic testing on young adults: A systematic review 102
Cancer risks by sex and variant type in PTEN Hamartoma Tumor Syndrome 101
Primary constitutional MLH1 epimutations: a focal epigenetic event 101
Clinical histopathological features and CDKN2A/CDK4/MITF mutational status of patients with multiple primary melanomas from Bologna: Italy is a fascinating but complex mosaic 100
Update of penetrance estimates in Birt-Hogg-Dubé syndrome 99
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. 97
Integrating BRCA testing into routine prostate cancer care: a multidisciplinary approach by SIUrO and other Italian Scientific Societies 96
Effectiveness and Impact of Transcript Analysis in Clinical Genetics Daily Practice 96
Preferences of Italian patients for return of secondary findings from clinical genome/exome sequencing 96
MLH1constitutional and somatic methylation in patients with MLH1 negative tumors fulfilling the revised Bethesda criteria 94
Variation in the risk of colorectal cancer in families with Lynch syndrome: a retrospective cohort study 94
Sudden shift to remote genetic counseling during the COVID-19 pandemic: Experiences of genetics professionals in Italy 93
Malignant and benign tumors associated with multiple primary melanomas: just the starting block for the involvement ofMITF, PTENandCDKN2Ain multiple cancerogenesis? 89
The Gen-Equip Project: evaluation and impact of genetics e-learning resources for primary care in six European languages 89
BRCA-Associated Ovarian Cancer: From Molecular Genetics to Risk Management 88
Development and Validation of an Italian Adaptation of the Psychosocial Aspects of Hereditary Cancer Questionnaire 88
HER2-Low Expression in Male Breast Cancer: Results from a Multicenter Series in Italy 86
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 85
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 84
I test genetici in Oncologia 83
A clinically applicable integrated molecular, immunohistochemical and histological approach for endometrial carcinoma. 82
null 78
Factors predicting BRCA1/2 pathogenic variants in patients with ovarian cancer: a systematic review with meta-analysis 76
Hypothesis on the possible relevance of the immunogenic cell death in the treatment of gestational trophoblastic neoplasms 76
Correction: Intrafamilial communication of hereditary breast and ovarian cancer genetic information in Italian women: towards a personalised approach 74
Ductal invasive carcinoma arising within atypical microglandular adenosis in a patient with BRCA-1 mutation: A case report. 72
Totale 13.252
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Categoria #
all - tutte 42.879
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 42.879
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2020/2021779 0 0 0 0 0 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
2024/20253.002 128 321 247 181 383 197 245 179 113 231 210 567
2025/20263.706 751 698 764 604 703 186 0 0 0 0 0 0
Totale 14.380