CRIS Current Research Information System

TURCHETTI, DANIELA
 Distribuzione geografica
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Continente #
NA - Nord America 7.009
AS - Asia 6.643
EU - Europa 4.626
SA - Sud America 422
AF - Africa 360
Continente sconosciuto - Info sul continente non disponibili 360
OC - Oceania 9
Totale 19.429
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Nazione #
US - Stati Uniti d'America 6.842
VN - Vietnam 2.014
SG - Singapore 1.664
IT - Italia 1.547
CN - Cina 1.493
GB - Regno Unito 648
DE - Germania 543
HK - Hong Kong 457
SE - Svezia 401
BR - Brasile 310
IN - India 262
FR - Francia 258
KR - Corea 194
NL - Olanda 188
FI - Finlandia 187
RU - Federazione Russa 174
IE - Irlanda 160
BD - Bangladesh 140
CI - Costa d'Avorio 102
CH - Svizzera 98
CA - Canada 94
JP - Giappone 94
ZA - Sudafrica 84
UA - Ucraina 83
TG - Togo 67
AT - Austria 57
ID - Indonesia 57
SC - Seychelles 51
EE - Estonia 47
AR - Argentina 45
PH - Filippine 42
BG - Bulgaria 41
JO - Giordania 32
BE - Belgio 30
TH - Thailandia 30
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
JM - Giamaica 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
UY - Uruguay 7
AU - Australia 6
CR - Costa Rica 6
EG - Egitto 6
KE - Kenya 6
RS - Serbia 6
HU - Ungheria 5
IL - Israele 5
LB - Libano 5
NI - Nicaragua 5
OM - Oman 5
AE - Emirati Arabi Uniti 4
AZ - Azerbaigian 4
HN - Honduras 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
PR - Porto Rico 3
TT - Trinidad e Tobago 3
ET - Etiopia 2
EU - Europa 2
GT - Guatemala 2
KG - Kirghizistan 2
KH - Cambogia 2
PS - Palestinian Territory 2
SN - Senegal 2
SV - El Salvador 2
AO - Angola 1
BA - Bosnia-Erzegovina 1
BJ - Benin 1
BM - Bermuda 1
Totale 19.052
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Città #
Singapore 1.163
Ashburn 835
Fairfield 544
Southend 531
Ho Chi Minh City 488
Hefei 418
Hong Kong 418
Hanoi 400
Chandler 389
Bologna 387
San Jose 334
Houston 272
Santa Clara 272
Woodbridge 232
Seattle 218
Dallas 206
Cambridge 199
Wilmington 189
Los Angeles 185
Beijing 175
Princeton 168
Seoul 167
Milan 160
Dublin 159
Ann Arbor 158
Helsinki 156
Boardman 150
New York 149
Munich 120
Dong Ket 119
Lauterbourg 114
Council Bluffs 104
Abidjan 102
Tokyo 76
Da Nang 74
Bern 73
Rome 72
Haiphong 68
Lomé 67
Nanjing 62
Redmond 58
Westminster 57
Buffalo 54
Padova 52
Redondo Beach 49
Berlin 48
Dearborn 46
Florence 45
Vienna 45
São Paulo 44
Bengaluru 41
Sofia 41
Chicago 38
San Diego 38
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
Brooklyn 27
Jacksonville 27
Des Moines 26
Naples 26
San Francisco 26
Brussels 25
Jinan 25
Johannesburg 24
Phoenix 24
Toronto 24
Hebei 23
Montreal 23
Biên Hòa 22
Falls Church 22
London 22
Atlanta 21
Lappeenranta 21
Warsaw 20
Thái Nguyên 19
Bremen 18
Paris 18
Shanghai 18
Hangzhou 17
Mexico City 17
Can Tho 16
Modena 16
Tianjin 16
Verona 16
Bến Tre 15
Chennai 15
Nanchang 15
Rimini 15
Yubileyny 15
Hyderabad 14
Totale 11.897
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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 641
BRCA1 p.His1673del is a pathogenic mutation associated with a predominant ovarian cancer phenotype 339
Atypical cancer risk profile in carriers of Italian founder BRCA1 variant p.His1673del: Implications for classification and clinical management 337
Prognostic Impact of Pathologic Features in Molecular Subgroups of Endometrial Carcinoma 314
A mutation in PAK3 with a dual molecular effect deregulates the RAS/MAPK pathway and drives an X-linked syndromic phenotype. 314
Specific Toxicity of Maintenance Olaparib Versus Placebo in Advanced Malignancies: A Systematic Review and Meta-analysis 305
Multi-Gene Next-Generation Sequencing Panel for Analysis of BRCA1/BRCA2 and Homologous Recombination Repair Genes Alterations Metastatic Castration-Resistant Prostate Cancer 270
An analysis of clinical, surgical, pathological and molecular characteristics of endometrial cancer according to mismatch repair status. A multidisciplinary approach 262
Detecting Variants in the NBN Gene While Testing for Hereditary Breast Cancer: What to Do Next? 256
CDKN2A and BAP1 germline mutations predispose to melanoma and mesothelioma 253
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 252
Arid1a and ctnnb1/β-catenin molecular status affects the clinicopathologic features and prognosis of endometrial carcinoma: Implications for an improved surrogate molecular classification 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 245
A regional population-based hereditary breast cancer screening tool in Italy: First 5-year results 244
What is new on ovarian carcinoma: Integrated morphologic and molecular analysis following the new 2020 world health organization classification of female genital tumors 241
The importance of a multidisciplinary approach in two tricky cases: the perfect match for Fabry disease 238
Pancreatic mucinous cystadenocarcinoma in a patient harbouring BRCA1 germline mutation effectively treated with olaparib: A case report 236
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 233
Attitudes of women of advanced maternal age undergoing invasive prenatal diagnosis and the impact of genetic counselling 232
Somatic APC mosaicism and oligogenic inheritance in genetically unsolved colorectal adenomatous polyposis patients 227
INTRAHEPATIC CHOLANGIOCARCINOMA DEVELOPMENT IN A PATIENT WITH A NOVEL BAP1 GERMLINE MUTATION AND LOW EXPOSURE TO ASBESTOS 224
Clinical implications of VUS reclassification in a single-centre series from application of ACMG/AMP classification rules specified for BRCA1/2 221
Effectiveness and Impact of Transcript Analysis in Clinical Genetics Daily Practice 219
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 206
Long read sequencing on its way to the routine diagnostics of genetic diseases 202
The need for clinical, genetic and radiological characterization of atypical polycystic kidney disease 194
miR-155 Is Downregulated in Familial Adenomatous Polyposis and Modulates WNT Signaling by Targeting AXIN1 and TCF4 183
Pathogenic Mitochondrial DNA Mutation Load Inversely Correlates with Malignant Features in Familial Oncocytic Parathyroid Tumors Associated with Hyperparathyroidism-Jaw Tumor Syndrome 183
PTEN Hamartoma Tumor Syndrome: Skin Manifestations and Insights Into Their Molecular Pathogenesis 182
Development of a risk score based on clinical–pathological features to predict the presence of germline BRCA1/2 pathogenic variants in ovarian cancer patients 180
Dealing With BRCA1/2 unclassified variants in a cancer genetics clinic: Does cosegregation analysis help? 179
Cascade genetic testing in hereditary cancer: exploring the boundaries of the Italian legal framework 179
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
Where Birt-Hogg-Dubé meets Cowden Syndrome: Mirrored genetic defects in two cases of syndromic oncocytic tumours 174
A novel p63 mutation in a fetus with ultrasound detection of split hand/foot malformation. 173
COLLECTIVE EVIDENCE SUPPORTS NEUTRALITY OF BRCA1 V1687I, A NOVEL SEQUENCE VARIANT IN THE CONSERVED THV MOTIF OF THE FIRST BRCT REPEAT 173
A systematic review of factors influencing uptake of invasive fetal genetic testing by pregnant women of advanced maternal age 166
SDHA Germline Variants in Adult Patients With SDHA-Mutant Gastrointestinal Stromal Tumor 166
Colorectal polyposis as a clue to the diagnosis of Cowden syndrome: Report of two cases and literature review 165
Primary malignant pericardial tumour in Lynch syndrome 164
Rasal1 and ros1 gene variants in hereditary breast cancer 164
Clinical genetic services in the Emilia-Romagna region, Italy: current activity and open issues: a mixed-method study 162
Genetic counseling: A survey to explore knowledge and attitudes of Italian nurses and midwives 162
A novel deleterious PTEN mutation in a patient with early-onset bilateral breast cancer. 162
Microsatellite instabilityDNA testing in routinely processed colorectal carcinomas: correlation with clinicopathologic and survival data in 340 consecutive cases 159
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
Novel Glial Cells Missing-2 (GCM2) variants in parathyroid disorders 154
Breast cancer screening in women at increased risk according to different family histories: an update of the Modena Study Group experience 154
Type and frequency of MUTYH variants in Italian patients with suspected MAP: A retrospective multicenter study 154
BRCA2 in Ovarian Development and Function 153
Cancer risk associated with STK11/LKB1 germline mutations in Peutz–Jeghers syndrome patients: Results of an Italian multicenter study 152
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 152
Characterization of BRCA Deficiency in Ovarian Cancer 151
null 150
Assessment of the InSiGHT Interpretation Criteria for the Clinical Classification of 24 MLH1 and MSH2 Gene Variants 150
Cancer risks by sex and variant type in PTEN Hamartoma Tumor Syndrome 149
Large deletion at the CDC73 gene locus and search for predictive markers of the presence of a CDC73 genetic lesion 147
Two distinct thyroid tumours in a Cowden Syndrome patient carrying both a 10q23 and a mitochondrial DNA germline deletion 144
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 144
Knowledge of genetics and the role of the nurse in genetic health care: a survey of Italian nurses 143
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
Decision making and experiences of young adults undergoing presymptomatic genetic testing for familial cancer: A longitudinal grounded theory study 141
Multicenter comparative multimodality surveillance of women at genetic-familial high risk for breast cancer (HIBCRIT Study): Interim results 140
Presymptomatic genetic testing for hereditary cancer in young adults: a survey of young adults and parents 138
Psychological consequences of prenatal diagnosis in a case of familial Angelman syndrome 137
Preferences of Italian patients for return of secondary findings from clinical genome/exome sequencing 135
PREVALENCE OF GJB2 , GJB6 AND A1555G MUTATIONS IN THE ITALIAN POPULATION 134
Update of penetrance estimates in Birt-Hogg-Dubé syndrome 132
Clinical histopathological features and CDKN2A/CDK4/MITF mutational status of patients with multiple primary melanomas from Bologna: Italy is a fascinating but complex mosaic 132
Impact of Genetic Counseling in Women with a Family History of Breast Cancer in Italy 131
Communication of Clinically Useful Next-Generation Sequencing Results to At-Risk Relatives of Deceased Research Participants: Toward Active Disclosure? 130
Development and Validation of an Italian Adaptation of the Psychosocial Aspects of Hereditary Cancer Questionnaire 130
HER2-Low Expression in Male Breast Cancer: Results from a Multicenter Series in Italy 129
An oncologist-based model of Cancer Genetic Counseling for Hereditary Breast and Ovarian Cancer 128
A systematic review of interventions to provide genetics education for primary care 127
Integrating BRCA testing into routine prostate cancer care: a multidisciplinary approach by SIUrO and other Italian Scientific Societies 124
Impact of presymptomatic genetic testing on young adults: A systematic review 124
Test genetici e consenso informato 124
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
The Gen-Equip Project: evaluation and impact of genetics e-learning resources for primary care in six European languages 122
Variation in the risk of colorectal cancer in families with Lynch syndrome: a retrospective cohort study 120
Primary constitutional MLH1 epimutations: a focal epigenetic event 119
Aspirin Colorectal Cancer Prevention in Lynch Syndrome: Recommendations in the Era of Precision Medicine 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. 117
Comment on 'Cancer genetic counselling' by P. Mandich et al. (Ann Oncol 2005; 16: 171). 116
BRCA-Associated Ovarian Cancer: From Molecular Genetics to Risk Management 113
Renal outcomes of kidney-liver transplantation and liver transplantation in autosomal dominant polycystic kidney disease patients 112
Factors predicting BRCA1/2 pathogenic variants in patients with ovarian cancer: a systematic review with meta-analysis 111
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 107
MLH1constitutional and somatic methylation in patients with MLH1 negative tumors fulfilling the revised Bethesda criteria 107
A clinically applicable integrated molecular, immunohistochemical and histological approach for endometrial carcinoma. 104
Malignant and benign tumors associated with multiple primary melanomas: just the starting block for the involvement ofMITF, PTENandCDKN2Ain multiple cancerogenesis? 104
The risk of a second primary cancer in PTEN Hamartoma Tumor Syndrome (PHTS) 98
Correction: Intrafamilial communication of hereditary breast and ovarian cancer genetic information in Italian women: towards a personalised approach 98
Hypothesis on the possible relevance of the immunogenic cell death in the treatment of gestational trophoblastic neoplasms 98
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)] 97
Totale 17.460
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Categoria #
all - tutte 54.354
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 54.354
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2021/20221.518 0 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
2026/2027327 231 96 0 0 0 0 0 0 0 0 0 0
Totale 19.429