| Nome |
# |
|
CDKN2A and BAP1 germline mutations predispose to melanoma and mesothelioma, file e27ce428-a797-2581-e053-d805fe0acbaa
|
1.135
|
|
Recurrent somatic DICER1 mutations in nonepithelial ovarian cancers., file e27ce426-ef5a-2581-e053-d805fe0acbaa
|
716
|
|
Salpingo-oophorectomy and the risk of ovarian, fallopian tube, and peritoneal cancers in women with a BRCA1 or BRCA2 mutation, file e27ce42b-f4b1-2581-e053-d805fe0acbaa
|
559
|
|
Association of type and location of BRCA1 and BRCA2 mutations with risk of breast and ovarian cancer, file e27ce427-76c6-2581-e053-d805fe0acbaa
|
527
|
|
Pathology of Breast and Ovarian Cancers among BRCA1 and BRCA2 Mutation Carriers: Results from the Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), file e27ce426-d6c5-2581-e053-d805fe0acbaa
|
410
|
|
Succinate Dehydrogenase (SDH) D Subunit (SDHD) Inactivation in a Growth-Hormone-Producing Pituitary Tumor: A New Association for SDH?, file e27ce426-d84d-2581-e053-d805fe0acbaa
|
350
|
|
Array-Comparative Genomic Hybridization Analysis in Fetuses with Major Congenital Malformations Reveals that 24% of Cases Have Pathogenic Deletions/Duplications, file e27ce428-b9cb-2581-e053-d805fe0acbaa
|
336
|
|
A founder MLH1 mutation in Lynch syndrome families from Piedmont, Italy, is associated with an increased risk of pancreatic tumours and diverse immunohistochemical patterns, file e27ce426-f685-2581-e053-d805fe0acbaa
|
320
|
|
Differences and homologies of chromosomal alterations within and between breast cancer cell lines: a clustering analysis, file e27ce426-fe1a-2581-e053-d805fe0acbaa
|
223
|
|
Germline mutations in DNA repair genes predispose asbestos-exposed patients to malignant pleural mesothelioma., file e27ce42c-6640-2581-e053-d805fe0acbaa
|
217
|
|
PARP1 expression drives the synergistic antitumor activity of trabectedin and PARP1 inhibitors in sarcoma preclinical models, file e27ce42b-7361-2581-e053-d805fe0acbaa
|
180
|
|
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, file e27ce42b-f0f5-2581-e053-d805fe0acbaa
|
180
|
|
Liddle syndrome: Review of the literature and description of a new case, file e27ce42d-279c-2581-e053-d805fe0acbaa
|
172
|
|
A large de novo 9p21.3 deletion in a girl affected by astrocytoma and multiple melanoma., file e27ce426-f1d2-2581-e053-d805fe0acbaa
|
157
|
|
Recommendations for the implementation of BRCA testing in ovarian cancer patients and their relatives, file e27ce42e-144f-2581-e053-d805fe0acbaa
|
150
|
|
Recommendations for the implementation of BRCA testing in the care and treatment pathways of ovarian cancer patients., file e27ce42a-b965-2581-e053-d805fe0acbaa
|
142
|
|
A unique MSH2 exon 8 deletion accounts for a major portion of all mismatch repair gene mutations in Lynch syndrome families of Sardinian origin, file e27ce426-ef58-2581-e053-d805fe0acbaa
|
139
|
|
Ovarian cancer in BRCA1 and BRCA2 gene mutation carriers: Analysis of prognostic factors and survival, file e27ce42a-1334-2581-e053-d805fe0acbaa
|
133
|
|
Refined histopathological predictors of BRCA1 and BRCA2 mutation status: A large-scale analysis of breast cancer characteristics from the BCAC, CIMBA, and ENIGMA consortia, file e27ce42b-ee5c-2581-e053-d805fe0acbaa
|
130
|
|
Exploring the link between MORF4L1 and risk of breast cancer, file e27ce426-d91d-2581-e053-d805fe0acbaa
|
128
|
|
SDH mutations in tumorigenesis and inherited endocrine tumours: lesson from the pheochromocytoma-paraganglioma syndromes, file e27ce426-b8d8-2581-e053-d805fe0acbaa
|
118
|
|
The association between smoking and cancer incidence in BRCA1 and BRCA2 mutation carriers, file e27ce42e-2394-2581-e053-d805fe0acbaa
|
117
|
|
Germline mutations in DNA repair genes predispose asbestos-exposed patients to malignant pleural mesothelioma., file e27ce42c-6641-2581-e053-d805fe0acbaa
|
114
|
|
Cell-free DNA screening for fetal aneuploidy using the rolling circle method: A step towards non invasive prenatal testing simplification., file e27ce433-1562-2581-e053-d805fe0acbaa
|
107
|
|
Mutational spectrum in a worldwide study of 29,700 families with BRCA1 or BRCA2 mutations, file e27ce42e-4ba3-2581-e053-d805fe0acbaa
|
99
|
|
Male breast cancer in BRCA1 and BRCA2 mutation carriers: Pathology data from the Consortium of Investigators of Modifiers of BRCA1/2, file e27ce42c-330e-2581-e053-d805fe0acbaa
|
96
|
|
A case of Feingold type 2 syndrome associated with keratoconus refines keratoconus type 7 locus on chromosome 13q, file e27ce42b-129b-2581-e053-d805fe0acbaa
|
95
|
|
Analysis of italian BRCA1/2 pathogenic variants identifies a private spectrum in the population from the Bergamo Province in northern Italy, file e27ce432-85e7-2581-e053-d805fe0acbaa
|
89
|
|
BRCA1/2 Molecular Assay for Ovarian Cancer Patients: A Survey through Italian Departments of Oncology and Molecular and Genomic Diagnostic Laboratories, file e27ce42e-7717-2581-e053-d805fe0acbaa
|
86
|
|
TERT Promoter Mutations are Associated with Visceral Spreading in Melanoma of the Trunk, file e27ce42e-4440-2581-e053-d805fe0acbaa
|
85
|
|
The expanding genetic horizon of primary aldosteronism, file e27ce42d-335f-2581-e053-d805fe0acbaa
|
82
|
|
Congenital Sensorineural Hearing Loss and Inborn Pigmentary Disorders: First Report of Multilocus Syndrome in Piebaldism, file e27ce42e-4c48-2581-e053-d805fe0acbaa
|
82
|
|
A fetal case of microphthalmia and limb anomalies with abnormal neuronal migration associated with SMOC1 biallelic variants, file e27ce42f-7661-2581-e053-d805fe0acbaa
|
82
|
|
Prevalence of Hypokalemia and Primary Aldosteronism in 5100 Patients Referred to a Tertiary Hypertension Unit, file e27ce42f-fa35-2581-e053-d805fe0acbaa
|
77
|
|
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, file e27ce426-d863-2581-e053-d805fe0acbaa
|
63
|
|
Design of a multiplex ligation-dependent probe amplification assay for SLC20A2: identification of two novel deletions in primary familial brain calcification, file e27ce42f-9f16-2581-e053-d805fe0acbaa
|
39
|
|
Collision of germline POLE and PMS2 variants in a young patient treated with immune checkpoint inhibitors, file e27ce435-11c1-2581-e053-d805fe0acbaa
|
36
|
|
A syndromic extreme insulin resistance caused by biallelic POC1A mutations in exon 10, file e27ce42c-0269-2581-e053-d805fe0acbaa
|
33
|
|
Implementation of preventive and predictive BRCA testing in patients with breast, ovarian, pancreatic, and prostate cancer: a position paper of Italian Scientific Societies, file e27ce435-4824-2581-e053-d805fe0acbaa
|
26
|
|
THE EXPRESSION OF LINE1-MET CHIMERIC TRANSCRIPT IDENTIFIES A SUBGROUP OF AGGRESSIVE BREAST CANCERS, file e27ce434-3cba-2581-e053-d805fe0acbaa
|
24
|
|
Gynecological Cancers in Lynch Syndrome: A Comparison of
the Histological Features with Sporadic Cases of the
General Population, file c346f0d2-7b5e-4e09-9195-7b35625ab112
|
16
|
|
Lynch syndrome-associated endometrial cancer patient with a rare novel germline likely pathogenic variant of MSH2 gene: A case report, file 7c224205-7e98-4dfa-80b5-5f8745410fab
|
14
|
|
The expanding genetic horizon of primary aldosteronism, file e27ce42d-51a0-2581-e053-d805fe0acbaa
|
14
|
|
Hypersensitivity to platinum salts according to BRCA status in ovarian cancer: A retrospective analysis of clinical outcomes and systematic review of literature, file e27ce435-83c1-2581-e053-d805fe0acbaa
|
13
|
|
Prevalence of Hypokalemia and Primary Aldosteronism in 5100 Patients Referred to a Tertiary Hypertension Unit, file e27ce42f-d2dc-2581-e053-d805fe0acbaa
|
11
|
|
Prevalence of Hypokalemia and Primary Aldosteronism in 5100 Patients Referred to a Tertiary Hypertension Unit, file e27ce42f-fa36-2581-e053-d805fe0acbaa
|
11
|
|
Pathology of Breast and Ovarian Cancers among BRCA1 and BRCA2 Mutation Carriers: Results from the Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), file e27ce426-d6c4-2581-e053-d805fe0acbaa
|
10
|
|
The expanding genetic horizon of primary aldosteronism, file e27ce42d-51a1-2581-e053-d805fe0acbaa
|
10
|
|
A fetal case of microphthalmia and limb anomalies with abnormal neuronal migration associated with SMOC1 biallelic variants, file e27ce42d-f818-2581-e053-d805fe0acbaa
|
9
|
|
Prevalence of Hypokalemia and Primary Aldosteronism in 5100 Patients Referred to a Tertiary Hypertension Unit, file e27ce42f-d2dd-2581-e053-d805fe0acbaa
|
8
|
|
From SGAP-Model to SGAP-Score: A Simplified Predictive Tool for Post-Surgical Recurrence of Pheochromocytoma, file 0fffff07-4a5c-4e8c-96b0-7ab41e15d5bc
|
7
|
|
The expanding genetic horizon of primary aldosteronism, file e27ce42d-279e-2581-e053-d805fe0acbaa
|
5
|
|
The expanding genetic horizon of primary aldosteronism, file e27ce42f-0d53-2581-e053-d805fe0acbaa
|
5
|
|
Predictors of recurrence of pheochromocytoma and paraganglioma: a multicenter study in Piedmont, Italy, file e27ce42f-8988-2581-e053-d805fe0acbaa
|
5
|
|
THE EXPRESSION OF LINE1-MET CHIMERIC TRANSCRIPT IDENTIFIES A SUBGROUP OF AGGRESSIVE BREAST CANCERS, file e27ce432-5072-2581-e053-d805fe0acbaa
|
5
|
|
Design of a multiplex ligation-dependent probe amplification assay for SLC20A2: identification of two novel deletions in primary familial brain calcification, file e27ce42e-b534-2581-e053-d805fe0acbaa
|
4
|
|
CDKN2A and BAP1 germline mutations predispose to melanoma and mesothelioma, file e27ce42f-8f8e-2581-e053-d805fe0acbaa
|
4
|
|
Sensitivity to asbestos is increased in patients with mesothelioma and pathogenic germline variants in BAP1 or other DNA repair genes, file e27ce42d-a847-2581-e053-d805fe0acbaa
|
3
|
|
Specifications and validation of the ACMG/AMP criteria for clinical interpretation of sequence variants in collagen genes associated with joint hypermobility, file 32aa1dca-17b4-4ab0-912c-161bdd33dade
|
2
|
|
A Novel PSEN1 Variant Leading to Posterior Cortical Atrophy: A Case Report, file 47aee4ab-6aed-4040-be81-1e377b99dbbc
|
2
|
|
Phenotype reversion as “natural gene therapy” in Fanconi anemia by a gene conversion event, file 488d2249-f15f-493a-9789-2bca0e480134
|
2
|
|
Correlation between genotype and hormonal levels in heterozygous mutation carriers and non carriers of 21-OH deficiency, file e27ce426-c09c-2581-e053-d805fe0acbaa
|
2
|
|
Extending the Phenotypes Associated with DICER1 Mutations., file e27ce426-d656-2581-e053-d805fe0acbaa
|
2
|
|
The expanding genetic horizon of primary aldosteronism, file e27ce42d-3360-2581-e053-d805fe0acbaa
|
2
|
|
A fetal case of microphthalmia and limb anomalies with abnormal neuronal migration associated with SMOC1 biallelic variants, file e27ce42e-0a52-2581-e053-d805fe0acbaa
|
2
|
|
Design of a multiplex ligation-dependent probe amplification assay for SLC20A2: identification of two novel deletions in primary familial brain calcification, file e27ce42e-c38b-2581-e053-d805fe0acbaa
|
2
|
|
Mutational spectrum in a worldwide study of 29,700 families with BRCA1 or BRCA2 mutations, file e27ce433-0077-2581-e053-d805fe0acbaa
|
2
|
|
Development and internal validation of a predictive model for the estimation of pheochromocytoma recurrence risk after radical surgery, file e27ce434-dec8-2581-e053-d805fe0acbaa
|
2
|
|
Risks of breast and ovarian cancer for women harboring pathogenic missense variants in BRCA1 and BRCA2 compared with those harboring protein truncating variants, file e27ce435-7021-2581-e053-d805fe0acbaa
|
2
|
|
Does chromosome 17 centromere copy number predict polysomy in breast cancer? A fluorescence in situ hybridization and microarray-based CGH analysis, file e27ce426-b31b-2581-e053-d805fe0acbaa
|
1
|
|
A founder MLH1 mutation in Lynch syndrome families from Piedmont, Italy, is associated with an increased risk of pancreatic tumours and diverse immunohistochemical patterns, file e27ce426-f6ec-2581-e053-d805fe0acbaa
|
1
|
|
A syndromic extreme insulin resistance caused by biallelic POC1A mutations in exon 10, file e27ce42c-40d4-2581-e053-d805fe0acbaa
|
1
|
|
Hypersensitivity to platinum salts according to BRCA status in ovarian cancer: A retrospective analysis of clinical outcomes and systematic review of literature, file e27ce431-e586-2581-e053-d805fe0acbaa
|
1
|
|
CDKN2A and BAP1 germline mutations predispose to melanoma and mesothelioma, file e27ce432-5cdc-2581-e053-d805fe0acbaa
|
1
|
|
Concordance of p16, FH, and alpha-SMA expression with the fumarate hydratase gene mutational status in sporadic and hereditary piloleiomyomas., file e27ce433-54e5-2581-e053-d805fe0acbaa
|
1
|
|
Identification of a robust DNA methylation signature for Fanconi anemia., file ea105b6c-eeb3-4abd-ab93-3ecd9b3c7adc
|
1
|
| Totale |
8.037 |