CINECA IRIS Institutional Research Information System

PASINI, Barbara
 Distribuzione geografica
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Continente #
NA - Nord America 6.936
EU - Europa 4.732
AS - Asia 2.216
OC - Oceania 100
SA - Sud America 88
AF - Africa 33
Continente sconosciuto - Info sul continente non disponibili 11
Totale 14.116
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Nazione #
US - Stati Uniti d'America 6.738
CN - Cina 1.352
IT - Italia 1.208
IE - Irlanda 575
SE - Svezia 471
FR - Francia 452
DE - Germania 445
UA - Ucraina 352
FI - Finlandia 285
GB - Regno Unito 280
KR - Corea 245
CA - Canada 165
IN - India 153
PL - Polonia 133
VN - Vietnam 125
AT - Austria 124
JP - Giappone 124
AU - Australia 88
ES - Italia 74
NL - Olanda 66
BE - Belgio 65
TR - Turchia 49
BR - Brasile 47
DK - Danimarca 31
HK - Hong Kong 30
MX - Messico 27
TW - Taiwan 27
SG - Singapore 26
CH - Svizzera 23
RO - Romania 21
GR - Grecia 20
RU - Federazione Russa 20
CO - Colombia 19
NO - Norvegia 18
IL - Israele 13
SI - Slovenia 13
AR - Argentina 12
NZ - Nuova Zelanda 11
PT - Portogallo 11
TH - Thailandia 11
CZ - Repubblica Ceca 10
EU - Europa 9
PK - Pakistan 9
SA - Arabia Saudita 9
ZA - Sudafrica 9
BA - Bosnia-Erzegovina 8
ID - Indonesia 8
IR - Iran 6
NG - Nigeria 6
EG - Egitto 5
HU - Ungheria 5
RS - Serbia 5
CL - Cile 4
HR - Croazia 4
MY - Malesia 4
UZ - Uzbekistan 4
BD - Bangladesh 3
CR - Costa Rica 3
CY - Cipro 3
EC - Ecuador 3
IQ - Iraq 3
LB - Libano 3
SC - Seychelles 3
SN - Senegal 3
A1 - Anonimo 2
AE - Emirati Arabi Uniti 2
BY - Bielorussia 2
DZ - Algeria 2
EE - Estonia 2
HN - Honduras 2
IS - Islanda 2
LU - Lussemburgo 2
MO - Macao, regione amministrativa speciale della Cina 2
MT - Malta 2
MU - Mauritius 2
BG - Bulgaria 1
BO - Bolivia 1
GE - Georgia 1
GH - Ghana 1
KE - Kenya 1
KG - Kirghizistan 1
LA - Repubblica Popolare Democratica del Laos 1
LC - Santa Lucia 1
LV - Lettonia 1
MA - Marocco 1
MN - Mongolia 1
PE - Perù 1
PG - Papua Nuova Guinea 1
PH - Filippine 1
SK - Slovacchia (Repubblica Slovacca) 1
VE - Venezuela 1
Totale 14.116
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Città #
Beijing 715
Chandler 714
Dublin 568
Houston 515
Ann Arbor 453
Fairfield 385
Ashburn 301
Torino 279
Woodbridge 266
Villeurbanne 240
Jacksonville 233
Wilmington 228
Redwood City 187
Seattle 185
Medford 184
Princeton 182
Hangzhou 159
Milan 131
Cambridge 125
Warsaw 122
Nyköping 119
Vienna 119
Dearborn 111
New York 108
Pisa 97
Dong Ket 88
Ottawa 82
Turin 71
Boston 70
Pune 67
Fremont 64
Shanghai 60
Boardman 59
Guangzhou 49
Rome 41
Tokyo 41
Verona 41
Chicago 38
Nanjing 34
Brussels 32
Norwalk 27
Wuhan 26
Honolulu 23
San Diego 22
Washington 22
Rochester 21
Taipei 21
Helsinki 20
Barcelona 19
London 19
Hefei 18
Paris 18
Kunming 17
Piemonte 17
Seoul 17
Toronto 17
Bethesda 16
Phoenix 16
Dallas 15
Istanbul 15
Silver Spring 15
Falls Church 14
Mountain View 14
Berlin 13
Buffalo 13
Genova 13
Lachine 13
Changsha 12
Jinan 12
Sydney 12
Athens 11
Atlanta 11
Columbus 11
Lexington 11
Munich 11
Philadelphia 11
Saint Louis 11
Singapore 11
Laguna Woods 10
Pavia 10
Shenyang 10
São Paulo 10
Waanrode 10
Bologna 9
Canberra 9
Central District 9
Chengdu 9
Hebei 9
Zhengzhou 9
Ankara 8
Brisbane 8
Catanzaro 8
Delhi 8
Hong Kong 8
Los Angeles 8
Lyndhurst 8
Palermo 8
Parma 8
Prague 8
Southend 8
Totale 8.360
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Nome #
CDKN2A and BAP1 germline mutations predispose to melanoma and mesothelioma 997
Salpingo-oophorectomy and the risk of ovarian, fallopian tube, and peritoneal cancers in women with a BRCA1 or BRCA2 mutation 502
A case of Feingold type 2 syndrome associated with keratoconus refines keratoconus type 7 locus on chromosome 13q 423
A founder MLH1 mutation in Lynch syndrome families from Piedmont, Italy, is associated with an increased risk of pancreatic tumours and diverse immunohistochemical patterns 391
The expanding genetic horizon of primary aldosteronism 303
Array-Comparative Genomic Hybridization Analysis in Fetuses with Major Congenital Malformations Reveals that 24% of Cases Have Pathogenic Deletions/Duplications 296
Bi-allelic MSH6 mutations in a case of early onset multiple primary tumors resembling Lynch and Turcot syndrome 262
Copy number variants analysis in a cohort of isolated and syndromic developmental delay/intellectual disability reveals novel genomic disorders, position effects and candidate disease genes 236
Association of type and location of BRCA1 and BRCA2 mutations with risk of breast and ovarian cancer 236
Design of a multiplex ligation-dependent probe amplification assay for SLC20A2: identification of two novel deletions in primary familial brain calcification 219
Frequency of RET mutations in long- and short-segment Hirschsprung disease. 208
Germline mutations in DNA repair genes predispose asbestos-exposed patients to malignant pleural mesothelioma. 200
A fetal case of microphthalmia and limb anomalies with abnormal neuronal migration associated with SMOC1 biallelic variants 197
PARP1 expression drives the synergistic antitumor activity of trabectedin and PARP1 inhibitors in sarcoma preclinical models 192
Recurrent somatic DICER1 mutations in nonepithelial ovarian cancers. 181
Pathology of Breast and Ovarian Cancers among BRCA1 and BRCA2 Mutation Carriers: Results from the Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA) 178
A unique MSH2 exon 8 deletion accounts for a major portion of all mismatch repair gene mutations in Lynch syndrome families of Sardinian origin 174
Recommendations for the implementation of BRCA testing in ovarian cancer patients and their relatives 173
A syndromic extreme insulin resistance caused by biallelic POC1A mutations in exon 10 166
Differences and homologies of chromosomal alterations within and between breast cancer cell lines: a clustering analysis 156
Ovarian cancer in BRCA1 and BRCA2 gene mutation carriers: Analysis of prognostic factors and survival 151
The association between smoking and cancer incidence in BRCA1 and BRCA2 mutation carriers 145
BRCA1 and BRCA2 germline mutations in early-onset breast carcinoma patients. 142
THE EXPRESSION OF LINE1-MET CHIMERIC TRANSCRIPT IDENTIFIES A SUBGROUP OF AGGRESSIVE BREAST CANCERS 135
A large de novo 9p21.3 deletion in a girl affected by astrocytoma and multiple melanoma. 132
Mutational spectrum in a worldwide study of 29,700 families with BRCA1 or BRCA2 mutations 130
Refined histopathological predictors of BRCA1 and BRCA2 mutation status: A large-scale analysis of breast cancer characteristics from the BCAC, CIMBA, and ENIGMA consortia 126
Recommendations for the implementation of BRCA testing in the care and treatment pathways of ovarian cancer patients. 124
X-linked Charcot-Marie-Tooth polyneuropathy due to mutation of the connexin-32 gene: revision of our cases of genetic neuropathies and identification of three affected families. 120
Mutation detection rates associated with specific selection criteria for BRCA1/2 testing in 1854 high-risk families: A monocentric Italian study 118
Succinate Dehydrogenase (SDH) D Subunit (SDHD) Inactivation in a Growth-Hormone-Producing Pituitary Tumor: A New Association for SDH? 117
Prevalence of Hypokalemia and Primary Aldosteronism in 5100 Patients Referred to a Tertiary Hypertension Unit 112
Two new cases of double heterozygosity for BRCA1 and BRCA2 gene mutations identified in a cohort of Italian breast and ovarian cancer families. 110
Exploring the link between MORF4L1 and risk of breast cancer 109
Mutational screening of the RB1 gene in Italian patients with retinoblastoma reveals 11 novel mutations. 108
The CASP8 rs3834129 polymorphism and breast cancer risk in BRCA1 mutation carriers 107
TERT Promoter Mutations are Associated with Visceral Spreading in Melanoma of the Trunk 103
A germline mismatch repair mutation possibly leading to a de novo NF1 germline mutation. 102
Characterization of ten novel and 13 recurring BRCA1 and BRCA2 germline mutations in Italian breast and/or ovarian carcinoma patients. Mutations in brief no. 178. Online. 101
Management of renal cancer in a contemporary series of patients affected by Von Hippel-Lindau disease. 101
Analisi genetica del gene CYP21 in forme non classiche di deficit di 21-beta-idrossilasi 100
Do Chromosome 17 Centromere Copy Numbers Predict Polysomy? A Fluorescence In Situ Hybridization and Microarray-Based CGH Analysis. 99
The full oncogenic activity of Ret/ptc2 depends on tyrosine 539, a docking site for phospholipase Cgamma 98
Hypersensitivity to platinum salts according to BRCA status in ovarian cancer: A retrospective analysis of clinical outcomes and systematic review of literature 96
Congenital Sensorineural Hearing Loss and Inborn Pigmentary Disorders: First Report of Multilocus Syndrome in Piebaldism 95
The physical map of the human RET proto-oncogene. 93
Male breast cancer in BRCA1 and BRCA2 mutation carriers: Pathology data from the Consortium of Investigators of Modifiers of BRCA1/2 93
SDH mutations in tumorigenesis and inherited endocrine tumours: lesson from the pheochromocytoma-paraganglioma syndromes 93
Common alleles at 6q25.1 and 1p11.2 are associated with breast cancer risk for BRCA1 and BRCA2 mutation carriers. 92
High prevalence of the G101W germline mutation in the CDKN2A (P16ink4a) gene in 62 Italian malignant melanoma families. 92
Liddle syndrome: Review of the literature and description of a new case 92
Sensitivity to asbestos is increased in patients with mesothelioma and pathogenic germline variants in BAP1 or other DNA repair genes 89
Tumori ereditari 87
Association of a new cationic trypsinogen gene mutation (V39A) with chronic pancreatitis in an Italian family 86
Fattori genetici predisponenti al carcinoma della mammella 82
BRCA1/2 Molecular Assay for Ovarian Cancer Patients: A Survey through Italian Departments of Oncology and Molecular and Genomic Diagnostic Laboratories 81
Laparoscopic unilateral adrenalectomy in children for isolated primary pigmented nodular adrenocortical disease (PPNAD): case report and literature review 79
Treatment of multiple synchronous misdiagnosed renal cell cancers in a young patient affected by a "de novo" Von Hippel-Lindau syndrome 79
CDKN2A and CDK4 mutation analysis in Italian melanoma-prone families: functional characterization of a novel CDKN2A germ line mutation. 78
Average risks of breast and ovarian cancer associated with BRCA1 or BRCA2 mutations detected in case Series unselected for family history: a combined analysis of 22 studies. 77
The Glu632-Leu633 deletion in cysteine rich domain of Ret induces constitutive dimerization and alters the processing of the receptor protein. 77
The Italian multi-centre project on evaluation of MRI and other imaging modalities in early detection of breast cancer in subjects at high genetic risk. 73
Radiofrequency Ablation for Renal Cancer in Von Hippel-Lindau Syndrome Patients: A Prospective Cohort Analysis 72
Timing of oral contraceptive use and the risk of breast cancer in BRCA1 mutation carriers. 71
Common breast cancer susceptibility alleles are associated with tumor subtypes in BRCA1 and BRCA2 mutation carriers: results from the Consortium of Investigators of Modifiers of BRCA1/2 70
Athypical epithelial proliferation in fallopian tubes in prophylactic salpingo-oophorectomy specimens from BRCA1 and BRCA2 germ line mutation carriers 69
Mutation analysis of the MSH6 gene in 52 MLH1/MSH2-negative, HNPCC suspect Italian patients 67
Unusual association of pancreatic neuroendocrine tumors and papillary renal cell cancer. 67
Incidental tumors in prophylactic oophorectomy specimens from BRCA mutation carriers. 66
The multiple endocrine neoplasia type 2B point mutation switches the specificity of the Ret tyrosine kinase towards cellular substrates that are susceptible to interact with Crk and Nck. 65
A case of medullary thyroid carcinoma, parathyroid focal hyperplasia and pancreatic neuroendocrine tumor without RET and MEN1 mutations 65
Age at first birth and the risk of breast cancer in BRCA1 and BRCA2 mutation carriers 64
ENIGMA--evidence-based network for the interpretation of germline mutant alleles: an international initiative to evaluate risk and clinical significance associated with sequence variation in BRCA1 and BRCA2 genes 64
Rb and TP53 pathway alterations in sporadic and NF1-related malignant peripheral nerve sheath tumors. 64
DNA polymorphisms and condition for SSCP analysis of the 20 exons of the RET proto-oncogene. 63
I tumori rari. 63
Analysis of italian BRCA1/2 pathogenic variants identifies a private spectrum in the population from the Bergamo Province in northern Italy 63
Malignant pheochromocytoma in multiple endocrine neoplasia type 2B syndrome. Case report and review of the literature. 62
Ordering of markers in the pericentromeric region of chromosome 10. 61
A novel mutation in the SDHD gene responsible for familial paraganglioma. Medical and psychological implications 61
Hormone therapy and the risk of breast cancer in BRCA1 mutation carriers 60
Tumori Ereditari. 60
Le basi molecolari della suscettibilità ereditaria ai tumori. 60
A comparison of bilateral breast cancers in BRCA carriers 60
From SGAP-Model to SGAP-Score: A Simplified Predictive Tool for Post-Surgical Recurrence of Pheochromocytoma 59
Evaluating breast cancer risk: available models to assess individual breast cancer risk and probability to be a BRCA mutation carrier. 59
Does chromosome 17 centromere copy number predict polysomy in breast cancer? A fluorescence in situ hybridization and microarray-based CGH analysis 59
A mutation in the RET proto-oncogene associated with multiple endocrine neoplasia type 2B and sporadic medullary thyroid carcinoma. 59
Tumours of the ovary. Serous Tumors 59
Prophylactic thyroidectomy in MEN 2A syndrome. 58
20 novel point mutations and one large deletion in EXT1 and EXT2 genes: Report of diagnostic screening in a large Italian cohort of patients affected by hereditary multiple exostosis. 57
Point mutations affecting the tyrosine kinase domain of the RET proto-oo-oncogene in Hirschsprung patients. 57
Search for germline mutations by DGGE in Italian von Hippel-Lindau patients. 55
Extending the Benign and Malignant Phenotypes Associated with Germline DICER1 Mutations. 55
Gastric leiomyoma and hyperplastic polyposis coli in a patient with multiple cutaneous and uterine leiomyomatosis 55
Acromegaly and Familial Paragangliomas: A New Syndrome? 55
Predictors of recurrence of pheochromocytoma and paraganglioma: a multicenter study in Piedmont, Italy 55
Development and internal validation of a predictive model for the estimation of pheochromocytoma recurrence risk after radical surgery 55
Breast MRI screening in patients with increased familial and/or genetic risk for breast cancer: a preliminary experience. 54
The BOADICEA model of genetic susceptibility to breast and ovarian cancers: updates and extensions 53
Totale 12.335
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Categoria #
all - tutte 35.429
article - articoli 0
book - libri 0
conference - conferenze 3.747
curatela - curatele 0
other - altro 0
patent - brevetti 0
selected - selezionate 0
volume - volumi 0
Totale 39.176
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2018/2019610 0 0 0 0 0 0 0 0 0 173 284 153
2019/20202.446 139 108 133 277 161 341 279 192 267 190 212 147
2020/20211.945 179 144 176 151 191 139 175 100 164 180 128 218
2021/20221.871 89 84 98 207 89 101 85 126 80 127 373 412
2022/20232.506 263 179 74 230 239 577 221 162 288 71 118 84
2023/20241.105 175 195 63 114 84 228 60 81 27 78 0 0
Totale 14.625