CRIS Current Research Information System

TURCHETTI, DANIELA
 Distribuzione geografica
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Continente #
NA - Nord America 6.819
AS - Asia 6.611
EU - Europa 4.563
SA - Sud America 420
AF - Africa 359
OC - Oceania 9
Continente sconosciuto - Info sul continente non disponibili 2
Totale 18.783
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Nazione #
US - Stati Uniti d'America 6.690
VN - Vietnam 2.014
SG - Singapore 1.653
IT - Italia 1.493
CN - Cina 1.489
GB - Regno Unito 647
DE - Germania 543
HK - Hong Kong 452
SE - Svezia 397
BR - Brasile 308
IN - India 262
FR - Francia 258
KR - Corea 194
FI - Finlandia 187
NL - Olanda 187
RU - Federazione Russa 174
IE - Irlanda 160
BD - Bangladesh 129
CI - Costa d'Avorio 102
CH - Svizzera 98
JP - Giappone 93
ZA - Sudafrica 84
UA - Ucraina 82
CA - Canada 75
TG - Togo 67
AT - Austria 57
ID - Indonesia 57
SC - Seychelles 50
EE - Estonia 47
AR - Argentina 45
PH - Filippine 42
BG - Bulgaria 41
JO - Giordania 32
TH - Thailandia 30
BE - Belgio 28
MX - Messico 28
ES - Italia 25
HR - Croazia 24
TR - Turchia 24
IQ - Iraq 23
PK - Pakistan 23
PL - Polonia 20
LT - Lituania 19
TW - Taiwan 19
EC - Ecuador 16
NG - Nigeria 14
UZ - Uzbekistan 14
SA - Arabia Saudita 12
DZ - Algeria 11
GR - Grecia 11
CO - Colombia 10
PT - Portogallo 10
DK - Danimarca 9
CL - Cile 8
CZ - Repubblica Ceca 8
IR - Iran 8
PE - Perù 8
PY - Paraguay 8
RO - Romania 8
VE - Venezuela 8
JM - Giamaica 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
MD - Moldavia 4
NP - Nepal 4
SK - Slovacchia (Repubblica Slovacca) 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
CR - Costa Rica 2
ET - Etiopia 2
EU - Europa 2
HN - Honduras 2
KG - Kirghizistan 2
KH - Cambogia 2
NI - Nicaragua 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
GD - Grenada 1
Totale 18.765
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Città #
Singapore 1.153
Ashburn 824
Fairfield 544
Southend 531
Ho Chi Minh City 488
Hefei 418
Hong Kong 415
Hanoi 400
Chandler 389
Bologna 384
San Jose 314
Houston 271
Santa Clara 265
Woodbridge 232
Seattle 217
Dallas 202
Cambridge 199
Wilmington 189
Los Angeles 182
Beijing 172
Princeton 168
Seoul 167
Dublin 159
Ann Arbor 158
Helsinki 156
Milan 151
Boardman 148
New York 143
Munich 120
Dong Ket 119
Lauterbourg 114
Abidjan 102
Council Bluffs 94
Tokyo 75
Da Nang 74
Bern 73
Haiphong 68
Lomé 67
Rome 67
Nanjing 62
Redmond 58
Westminster 57
Buffalo 52
Padova 52
Redondo Beach 49
Berlin 48
Dearborn 46
Florence 45
Vienna 45
São Paulo 44
Bengaluru 41
Sofia 41
San Diego 38
Chicago 37
Frankfurt am Main 37
Jakarta 37
Saint Petersburg 36
Nuremberg 33
Hải Dương 32
Amman 31
Turin 31
Guangzhou 30
Amsterdam 29
Denver 28
Orem 28
Shenyang 28
Jacksonville 27
Brooklyn 26
Des Moines 26
San Francisco 26
Brussels 25
Jinan 25
Johannesburg 24
Naples 24
Phoenix 24
Hebei 23
Biên Hòa 22
Falls Church 22
Montreal 22
Toronto 22
Lappeenranta 21
London 21
Warsaw 20
Atlanta 19
Thái Nguyên 19
Bremen 18
Paris 18
Shanghai 18
Hangzhou 17
Mexico City 17
Can Tho 16
Modena 16
Tianjin 16
Bến Tre 15
Chennai 15
Nanchang 15
Rimini 15
Verona 15
Yubileyny 15
Hyderabad 14
Totale 11.785
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Nome #
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 636
BRCA1 p.His1673del is a pathogenic mutation associated with a predominant ovarian cancer phenotype 337
Atypical cancer risk profile in carriers of Italian founder BRCA1 variant p.His1673del: Implications for classification and clinical management 334
A mutation in PAK3 with a dual molecular effect deregulates the RAS/MAPK pathway and drives an X-linked syndromic phenotype. 309
Prognostic Impact of Pathologic Features in Molecular Subgroups of Endometrial Carcinoma 306
Specific Toxicity of Maintenance Olaparib Versus Placebo in Advanced Malignancies: A Systematic Review and Meta-analysis 304
Multi-Gene Next-Generation Sequencing Panel for Analysis of BRCA1/BRCA2 and Homologous Recombination Repair Genes Alterations Metastatic Castration-Resistant Prostate Cancer 269
An analysis of clinical, surgical, pathological and molecular characteristics of endometrial cancer according to mismatch repair status. A multidisciplinary approach 262
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 249
CDKN2A and BAP1 germline mutations predispose to melanoma and mesothelioma 248
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 243
A regional population-based hereditary breast cancer screening tool in Italy: First 5-year results 242
Arid1a and ctnnb1/β-catenin molecular status affects the clinicopathologic features and prognosis of endometrial carcinoma: Implications for an improved surrogate molecular classification 242
Detecting Variants in the NBN Gene While Testing for Hereditary Breast Cancer: What to Do Next? 240
What is new on ovarian carcinoma: Integrated morphologic and molecular analysis following the new 2020 world health organization classification of female genital tumors 240
The importance of a multidisciplinary approach in two tricky cases: the perfect match for Fabry disease 236
Pancreatic mucinous cystadenocarcinoma in a patient harbouring BRCA1 germline mutation effectively treated with olaparib: A case report 235
Attitudes of women of advanced maternal age undergoing invasive prenatal diagnosis and the impact of genetic counselling 232
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 231
Somatic APC mosaicism and oligogenic inheritance in genetically unsolved colorectal adenomatous polyposis patients 223
Clinical implications of VUS reclassification in a single-centre series from application of ACMG/AMP classification rules specified for BRCA1/2 220
INTRAHEPATIC CHOLANGIOCARCINOMA DEVELOPMENT IN A PATIENT WITH A NOVEL BAP1 GERMLINE MUTATION AND LOW EXPOSURE TO ASBESTOS 219
Effectiveness and Impact of Transcript Analysis in Clinical Genetics Daily Practice 211
Mowat-Wilson syndrome: Facial phenotype changing with age: Study of 19 Italian patients and review of the literature 206
Cytogenetic and molecular characterization of a recombinant X chromosome in a family with a severe neurologic phenotype and macular degeneration 205
Long read sequencing on its way to the routine diagnostics of genetic diseases 200
The need for clinical, genetic and radiological characterization of atypical polycystic kidney disease 191
Pathogenic Mitochondrial DNA Mutation Load Inversely Correlates with Malignant Features in Familial Oncocytic Parathyroid Tumors Associated with Hyperparathyroidism-Jaw Tumor Syndrome 181
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 178
Development of a risk score based on clinical–pathological features to predict the presence of germline BRCA1/2 pathogenic variants in ovarian cancer patients 177
Dealing With BRCA1/2 unclassified variants in a cancer genetics clinic: Does cosegregation analysis help? 177
miR-155 Is Downregulated in Familial Adenomatous Polyposis and Modulates WNT Signaling by Targeting AXIN1 and TCF4 176
PTEN Hamartoma Tumor Syndrome: Skin Manifestations and Insights Into Their Molecular Pathogenesis 175
Cascade genetic testing in hereditary cancer: exploring the boundaries of the Italian legal framework 175
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. 172
COLLECTIVE EVIDENCE SUPPORTS NEUTRALITY OF BRCA1 V1687I, A NOVEL SEQUENCE VARIANT IN THE CONSERVED THV MOTIF OF THE FIRST BRCT REPEAT 170
A systematic review of factors influencing uptake of invasive fetal genetic testing by pregnant women of advanced maternal age 166
Colorectal polyposis as a clue to the diagnosis of Cowden syndrome: Report of two cases and literature review 165
SDHA Germline Variants in Adult Patients With SDHA-Mutant Gastrointestinal Stromal Tumor 165
Rasal1 and ros1 gene variants in hereditary breast cancer 163
A novel deleterious PTEN mutation in a patient with early-onset bilateral breast cancer. 162
Primary malignant pericardial tumour in Lynch syndrome 162
Microsatellite instabilityDNA testing in routinely processed colorectal carcinomas: correlation with clinicopathologic and survival data in 340 consecutive cases 159
Genetic counseling: A survey to explore knowledge and attitudes of Italian nurses and midwives 159
Clinical genetic services in the Emilia-Romagna region, Italy: current activity and open issues: a mixed-method study 158
MYO7A mutation screening in Usher syndrome type I patients from diverse origins. 158
Persistence of a Monosomic Cell Line in a Fetus with Mosaic Trisomy 8 155
Type and frequency of MUTYH variants in Italian patients with suspected MAP: A retrospective multicenter study 154
Novel Glial Cells Missing-2 (GCM2) variants in parathyroid disorders 153
Breast cancer screening in women at increased risk according to different family histories: an update of the Modena Study Group experience 153
BRCA2 in Ovarian Development and Function 153
Clinical genetic testing for familial melanoma in Italy: a cooperative study 152
A de novo nonsense mutation of PAX6 gene in a patient with aniridia, ataxia, and mental retardation 151
null 150
Assessment of the InSiGHT Interpretation Criteria for the Clinical Classification of 24 MLH1 and MSH2 Gene Variants 149
Characterization of BRCA Deficiency in Ovarian Cancer 149
Cancer risks by sex and variant type in PTEN Hamartoma Tumor Syndrome 147
Large deletion at the CDC73 gene locus and search for predictive markers of the presence of a CDC73 genetic lesion 146
Cancer risk associated with STK11/LKB1 germline mutations in Peutz–Jeghers syndrome patients: Results of an Italian multicenter study 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
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 142
Decision making and experiences of young adults undergoing presymptomatic genetic testing for familial cancer: A longitudinal grounded theory study 140
Multicenter comparative multimodality surveillance of women at genetic-familial high risk for breast cancer (HIBCRIT Study): Interim results 139
Psychological consequences of prenatal diagnosis in a case of familial Angelman syndrome 137
Presymptomatic genetic testing for hereditary cancer in young adults: a survey of young adults and parents 137
PREVALENCE OF GJB2 , GJB6 AND A1555G MUTATIONS IN THE ITALIAN POPULATION 134
Clinical histopathological features and CDKN2A/CDK4/MITF mutational status of patients with multiple primary melanomas from Bologna: Italy is a fascinating but complex mosaic 131
Communication of Clinically Useful Next-Generation Sequencing Results to At-Risk Relatives of Deceased Research Participants: Toward Active Disclosure? 130
Impact of Genetic Counseling in Women with a Family History of Breast Cancer in Italy 130
Update of penetrance estimates in Birt-Hogg-Dubé syndrome 129
Preferences of Italian patients for return of secondary findings from clinical genome/exome sequencing 129
An oncologist-based model of Cancer Genetic Counseling for Hereditary Breast and Ovarian Cancer 128
Development and Validation of an Italian Adaptation of the Psychosocial Aspects of Hereditary Cancer Questionnaire 128
A systematic review of interventions to provide genetics education for primary care 126
Test genetici e consenso informato 124
Impact of presymptomatic genetic testing on young adults: A systematic review 123
Implementing genetic education in primary care: the Gen-Equip programme 123
Sudden shift to remote genetic counseling during the COVID-19 pandemic: Experiences of genetics professionals in Italy 123
HER2-Low Expression in Male Breast Cancer: Results from a Multicenter Series in Italy 122
The Gen-Equip Project: evaluation and impact of genetics e-learning resources for primary care in six European languages 122
Integrating BRCA testing into routine prostate cancer care: a multidisciplinary approach by SIUrO and other Italian Scientific Societies 118
Aspirin Colorectal Cancer Prevention in Lynch Syndrome: Recommendations in the Era of Precision Medicine 117
Primary constitutional MLH1 epimutations: a focal epigenetic event 117
Variation in the risk of colorectal cancer in families with Lynch syndrome: a retrospective cohort study 117
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. 116
Comment on 'Cancer genetic counselling' by P. Mandich et al. (Ann Oncol 2005; 16: 171). 115
BRCA-Associated Ovarian Cancer: From Molecular Genetics to Risk Management 113
MLH1constitutional and somatic methylation in patients with MLH1 negative tumors fulfilling the revised Bethesda criteria 106
Factors predicting BRCA1/2 pathogenic variants in patients with ovarian cancer: a systematic review with meta-analysis 105
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 104
Renal outcomes of kidney-liver transplantation and liver transplantation in autosomal dominant polycystic kidney disease patients 103
A clinically applicable integrated molecular, immunohistochemical and histological approach for endometrial carcinoma. 102
Malignant and benign tumors associated with multiple primary melanomas: just the starting block for the involvement ofMITF, PTENandCDKN2Ain multiple cancerogenesis? 102
Hypothesis on the possible relevance of the immunogenic cell death in the treatment of gestational trophoblastic neoplasms 98
Ductal invasive carcinoma arising within atypical microglandular adenosis in a patient with BRCA-1 mutation: A case report. 97
Correction: Intrafamilial communication of hereditary breast and ovarian cancer genetic information in Italian women: towards a personalised approach 97
PREDICTIVE BRCA GENETIC TESTING IN ITALIAN PATIENTS WITH BREAST CANCER: A POSITION PAPER OF ITALIAN SCIENTIFIC SOCIETIES [Italian Association of Medical Oncology(AIOM); Italian Association of Radiotherapy and Clinical Oncology (AIRO); Italian National Association of Breast Surgeons (ANISC); Italian Society of Pathological Anatomy and Diagnostic Cytology (SIAPeC-IAP); Italian Society of Surgical Oncology (SICO); Italian Society of Human Genetic (SIGU); Italian Society of General Practice (SIMG); Italian Society of Medical and Interventional Radiology (SIRM)] 95
Totale 17.246
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Categoria #
all - tutte 52.322
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 52.322
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
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
2025/20268.428 751 698 764 604 703 372 1.154 256 1.364 529 838 395
2026/202735 35 0 0 0 0 0 0 0 0 0 0 0
Totale 19.137