CINECA IRIS Institutional Research Information System

PASINI, Barbara
 Distribuzione geografica
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Continente #
NA - Nord America 7.289
EU - Europa 5.016
AS - Asia 2.791
OC - Oceania 117
SA - Sud America 98
AF - Africa 43
Continente sconosciuto - Info sul continente non disponibili 11
Totale 15.365
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Nazione #
US - Stati Uniti d'America 7.077
CN - Cina 1.475
IT - Italia 1.342
IE - Irlanda 575
DE - Germania 476
FR - Francia 472
SE - Svezia 471
SG - Singapore 384
UA - Ucraina 352
FI - Finlandia 305
GB - Regno Unito 302
KR - Corea 245
CA - Canada 173
IN - India 167
PL - Polonia 133
JP - Giappone 132
VN - Vietnam 126
AT - Austria 125
AU - Australia 105
ES - Italia 85
NL - Olanda 74
BE - Belgio 65
TR - Turchia 59
BR - Brasile 57
ID - Indonesia 53
HK - Hong Kong 36
CH - Svizzera 35
MX - Messico 33
DK - Danimarca 31
RU - Federazione Russa 27
TW - Taiwan 27
RO - Romania 24
GR - Grecia 23
NO - Norvegia 20
CO - Colombia 19
CZ - Repubblica Ceca 13
IL - Israele 13
PT - Portogallo 13
SI - Slovenia 13
TH - Thailandia 13
AR - Argentina 12
ZA - Sudafrica 12
NZ - Nuova Zelanda 11
SA - Arabia Saudita 10
EU - Europa 9
PK - Pakistan 9
BA - Bosnia-Erzegovina 8
IR - Iran 7
NG - Nigeria 6
EG - Egitto 5
HU - Ungheria 5
LU - Lussemburgo 5
RS - Serbia 5
SN - Senegal 5
AE - Emirati Arabi Uniti 4
CL - Cile 4
HR - Croazia 4
JO - Giordania 4
MY - Malesia 4
UZ - Uzbekistan 4
BD - Bangladesh 3
CR - Costa Rica 3
CY - Cipro 3
EC - Ecuador 3
IQ - Iraq 3
IS - Islanda 3
LB - Libano 3
SC - Seychelles 3
TG - Togo 3
A1 - Anonimo 2
BG - Bulgaria 2
BY - Bielorussia 2
DZ - Algeria 2
EE - Estonia 2
HN - Honduras 2
MO - Macao, regione amministrativa speciale della Cina 2
MT - Malta 2
MU - Mauritius 2
BJ - Benin 1
BO - Bolivia 1
CI - Costa d'Avorio 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 15.365
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Città #
Beijing 738
Chandler 714
Dublin 568
Houston 517
Ann Arbor 453
Fairfield 385
Ashburn 307
Torino 279
Singapore 266
Woodbridge 266
Villeurbanne 240
Jacksonville 233
Wilmington 228
Redwood City 187
Seattle 185
Medford 184
Princeton 182
Columbus 167
Hangzhou 159
Milan 151
Cambridge 129
Warsaw 122
Vienna 120
Nyköping 119
New York 115
Dearborn 111
Turin 102
Pisa 97
Dong Ket 88
Ottawa 82
Boston 74
Pune 67
Boardman 65
Fremont 64
Guangzhou 61
Shanghai 61
Rome 49
Jakarta 47
Tokyo 43
Verona 41
Nanjing 40
Chicago 38
Santa Clara 36
Helsinki 35
Brussels 32
Honolulu 27
London 27
Norwalk 27
Wuhan 27
Washington 24
Rochester 23
San Diego 22
Paris 21
Taipei 21
Munich 20
Barcelona 19
Bethesda 19
Istanbul 19
Los Angeles 19
Hefei 18
Toronto 18
Kunming 17
Piemonte 17
Seoul 17
Berlin 16
Phoenix 16
Sydney 16
Dallas 15
Silver Spring 15
Falls Church 14
Mountain View 14
Philadelphia 14
Athens 13
Buffalo 13
Chengdu 13
Genova 13
Lachine 13
Bologna 12
Changsha 12
Hong Kong 12
Jinan 12
Mumbai 12
São Paulo 12
Atlanta 11
Brisbane 11
Lexington 11
Saint Louis 11
Amsterdam 10
Ankara 10
Bengaluru 10
Laguna Woods 10
Moscow 10
Palermo 10
Pavia 10
Shenyang 10
Waanrode 10
Canberra 9
Central District 9
Hebei 9
Melbourne 9
Totale 9.076
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Nome #
CDKN2A and BAP1 germline mutations predispose to melanoma and mesothelioma 1.033
Salpingo-oophorectomy and the risk of ovarian, fallopian tube, and peritoneal cancers in women with a BRCA1 or BRCA2 mutation 533
A case of Feingold type 2 syndrome associated with keratoconus refines keratoconus type 7 locus on chromosome 13q 442
A founder MLH1 mutation in Lynch syndrome families from Piedmont, Italy, is associated with an increased risk of pancreatic tumours and diverse immunohistochemical patterns 429
The expanding genetic horizon of primary aldosteronism 332
Array-Comparative Genomic Hybridization Analysis in Fetuses with Major Congenital Malformations Reveals that 24% of Cases Have Pathogenic Deletions/Duplications 310
Bi-allelic MSH6 mutations in a case of early onset multiple primary tumors resembling Lynch and Turcot syndrome 275
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 250
Association of type and location of BRCA1 and BRCA2 mutations with risk of breast and ovarian cancer 245
Design of a multiplex ligation-dependent probe amplification assay for SLC20A2: identification of two novel deletions in primary familial brain calcification 236
A fetal case of microphthalmia and limb anomalies with abnormal neuronal migration associated with SMOC1 biallelic variants 234
Germline mutations in DNA repair genes predispose asbestos-exposed patients to malignant pleural mesothelioma. 221
Frequency of RET mutations in long- and short-segment Hirschsprung disease. 210
PARP1 expression drives the synergistic antitumor activity of trabectedin and PARP1 inhibitors in sarcoma preclinical models 199
A syndromic extreme insulin resistance caused by biallelic POC1A mutations in exon 10 190
Recurrent somatic DICER1 mutations in nonepithelial ovarian cancers. 190
Pathology of Breast and Ovarian Cancers among BRCA1 and BRCA2 Mutation Carriers: Results from the Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA) 189
Skewed X-chromosome inactivation in unsolved neurodevelopmental disease cases can guide re-evaluation For X-linked genes 185
A unique MSH2 exon 8 deletion accounts for a major portion of all mismatch repair gene mutations in Lynch syndrome families of Sardinian origin 185
Recommendations for the implementation of BRCA testing in ovarian cancer patients and their relatives 185
Differences and homologies of chromosomal alterations within and between breast cancer cell lines: a clustering analysis 166
Ovarian cancer in BRCA1 and BRCA2 gene mutation carriers: Analysis of prognostic factors and survival 156
THE EXPRESSION OF LINE1-MET CHIMERIC TRANSCRIPT IDENTIFIES A SUBGROUP OF AGGRESSIVE BREAST CANCERS 156
The association between smoking and cancer incidence in BRCA1 and BRCA2 mutation carriers 151
BRCA1 and BRCA2 germline mutations in early-onset breast carcinoma patients. 144
A large de novo 9p21.3 deletion in a girl affected by astrocytoma and multiple melanoma. 140
Mutation detection rates associated with specific selection criteria for BRCA1/2 testing in 1854 high-risk families: A monocentric Italian study 138
Mutational spectrum in a worldwide study of 29,700 families with BRCA1 or BRCA2 mutations 134
Refined histopathological predictors of BRCA1 and BRCA2 mutation status: A large-scale analysis of breast cancer characteristics from the BCAC, CIMBA, and ENIGMA consortia 132
Recommendations for the implementation of BRCA testing in the care and treatment pathways of ovarian cancer patients. 128
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. 126
Prevalence of Hypokalemia and Primary Aldosteronism in 5100 Patients Referred to a Tertiary Hypertension Unit 123
Succinate Dehydrogenase (SDH) D Subunit (SDHD) Inactivation in a Growth-Hormone-Producing Pituitary Tumor: A New Association for SDH? 121
Male breast cancer in BRCA1 and BRCA2 mutation carriers: Pathology data from the Consortium of Investigators of Modifiers of BRCA1/2 117
Two new cases of double heterozygosity for BRCA1 and BRCA2 gene mutations identified in a cohort of Italian breast and ovarian cancer families. 115
Hypersensitivity to platinum salts according to BRCA status in ovarian cancer: A retrospective analysis of clinical outcomes and systematic review of literature 115
Exploring the link between MORF4L1 and risk of breast cancer 114
A germline mismatch repair mutation possibly leading to a de novo NF1 germline mutation. 113
Mutational screening of the RB1 gene in Italian patients with retinoblastoma reveals 11 novel mutations. 112
The CASP8 rs3834129 polymorphism and breast cancer risk in BRCA1 mutation carriers 109
TERT Promoter Mutations are Associated with Visceral Spreading in Melanoma of the Trunk 107
Management of renal cancer in a contemporary series of patients affected by Von Hippel-Lindau disease. 106
Analisi genetica del gene CYP21 in forme non classiche di deficit di 21-beta-idrossilasi 105
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. 104
Do Chromosome 17 Centromere Copy Numbers Predict Polysomy? A Fluorescence In Situ Hybridization and Microarray-Based CGH Analysis. 104
The full oncogenic activity of Ret/ptc2 depends on tyrosine 539, a docking site for phospholipase Cgamma 103
Congenital Sensorineural Hearing Loss and Inborn Pigmentary Disorders: First Report of Multilocus Syndrome in Piebaldism 100
Liddle syndrome: Review of the literature and description of a new case 99
SDH mutations in tumorigenesis and inherited endocrine tumours: lesson from the pheochromocytoma-paraganglioma syndromes 99
The physical map of the human RET proto-oncogene. 96
High prevalence of the G101W germline mutation in the CDKN2A (P16ink4a) gene in 62 Italian malignant melanoma families. 95
Sensitivity to asbestos is increased in patients with mesothelioma and pathogenic germline variants in BAP1 or other DNA repair genes 95
Common alleles at 6q25.1 and 1p11.2 are associated with breast cancer risk for BRCA1 and BRCA2 mutation carriers. 94
Association of a new cationic trypsinogen gene mutation (V39A) with chronic pancreatitis in an Italian family 91
Tumori ereditari 89
BRCA1/2 Molecular Assay for Ovarian Cancer Patients: A Survey through Italian Departments of Oncology and Molecular and Genomic Diagnostic Laboratories 88
Fattori genetici predisponenti al carcinoma della mammella 86
Laparoscopic unilateral adrenalectomy in children for isolated primary pigmented nodular adrenocortical disease (PPNAD): case report and literature review 82
Treatment of multiple synchronous misdiagnosed renal cell cancers in a young patient affected by a "de novo" Von Hippel-Lindau syndrome 82
CDKN2A and CDK4 mutation analysis in Italian melanoma-prone families: functional characterization of a novel CDKN2A germ line mutation. 82
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. 79
The Glu632-Leu633 deletion in cysteine rich domain of Ret induces constitutive dimerization and alters the processing of the receptor protein. 79
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 78
Timing of oral contraceptive use and the risk of breast cancer in BRCA1 mutation carriers. 76
Radiofrequency Ablation for Renal Cancer in Von Hippel-Lindau Syndrome Patients: A Prospective Cohort Analysis 76
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. 75
Mutation analysis of the MSH6 gene in 52 MLH1/MSH2-negative, HNPCC suspect Italian patients 74
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. 74
Athypical epithelial proliferation in fallopian tubes in prophylactic salpingo-oophorectomy specimens from BRCA1 and BRCA2 germ line mutation carriers 73
Incidental tumors in prophylactic oophorectomy specimens from BRCA mutation carriers. 73
Development and internal validation of a predictive model for the estimation of pheochromocytoma recurrence risk after radical surgery 73
Rb and TP53 pathway alterations in sporadic and NF1-related malignant peripheral nerve sheath tumors. 72
Unusual association of pancreatic neuroendocrine tumors and papillary renal cell cancer. 72
Analysis of italian BRCA1/2 pathogenic variants identifies a private spectrum in the population from the Bergamo Province in northern Italy 71
A case of medullary thyroid carcinoma, parathyroid focal hyperplasia and pancreatic neuroendocrine tumor without RET and MEN1 mutations 69
Age at first birth and the risk of breast cancer in BRCA1 and BRCA2 mutation carriers 68
DNA polymorphisms and condition for SSCP analysis of the 20 exons of the RET proto-oncogene. 67
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. 67
A novel mutation in the SDHD gene responsible for familial paraganglioma. Medical and psychological implications 67
From SGAP-Model to SGAP-Score: A Simplified Predictive Tool for Post-Surgical Recurrence of Pheochromocytoma 66
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 66
I tumori rari. 66
Malignant pheochromocytoma in multiple endocrine neoplasia type 2B syndrome. Case report and review of the literature. 64
Ordering of markers in the pericentromeric region of chromosome 10. 64
A mutation in the RET proto-oncogene associated with multiple endocrine neoplasia type 2B and sporadic medullary thyroid carcinoma. 64
Tumours of the ovary. Serous Tumors 64
A comparison of bilateral breast cancers in BRCA carriers 64
Hormone therapy and the risk of breast cancer in BRCA1 mutation carriers 62
Tumori Ereditari. 62
Le basi molecolari della suscettibilità ereditaria ai tumori. 62
Evaluating breast cancer risk: available models to assess individual breast cancer risk and probability to be a BRCA mutation carrier. 61
Does chromosome 17 centromere copy number predict polysomy in breast cancer? A fluorescence in situ hybridization and microarray-based CGH analysis 61
Prophylactic thyroidectomy in MEN 2A syndrome. 60
Point mutations affecting the tyrosine kinase domain of the RET proto-oo-oncogene in Hirschsprung patients. 60
Neoplasie ereditarie. 59
Acromegaly and Familial Paragangliomas: A New Syndrome? 59
Implementation of preventive and predictive BRCA testing in patients with breast, ovarian, pancreatic, and prostate cancer: a position paper of Italian Scientific Societies 59
Search for germline mutations by DGGE in Italian von Hippel-Lindau patients. 58
Correlation between genotype and hormonal levels in heterozygous mutation carriers and non carriers of 21-OH deficiency 58
A novel missense mutation in fumarate hydratase in an Italian patient with a diffuse variant of cutaneous leiomyomatosis (Reed's syndrome) 58
Totale 13.270
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Categoria #
all - tutte 42.917
article - articoli 0
book - libri 0
conference - conferenze 4.535
curatela - curatele 0
other - altro 0
patent - brevetti 0
selected - selezionate 0
volume - volumi 0
Totale 47.452
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2019/20201.789 0 0 0 0 161 341 279 192 267 190 212 147
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
2023/20241.487 175 195 63 114 84 228 60 81 27 97 130 233
2024/2025871 95 210 157 354 55 0 0 0 0 0 0 0
Totale 15.878