Found: 13
Select item for more details and to access through your institution.
A new founder BRCA1 haplotype identified in the Puglia region is associated with a specific age-related cancer onset in three unrelated families.
- Published in:
- 2021
- By:
- Publication type:
- Letter
Value of MLH1 and MSH2 Mutations in the Appearance of Muir–Torre Syndrome Phenotype in HNPCC Patients Presenting Sebaceous Gland Tumors or Keratoacanthomas.
- Published in:
- Journal of Investigative Dermatology, 2006, v. 126, n. 10, p. 2302, doi. 10.1038/sj.jid.5700475
- By:
- Publication type:
- Article
Surgical management of BRCA pathogenic variant carriers with breast cancer: a recent literature review and current state of the art.
- Published in:
- Minerva Surgery, 2021, v. 76, n. 6, p. 564, doi. 10.23736/S2724-5691.21.09009-2
- By:
- Publication type:
- Article
Lynch syndrome with exclusive skin involvement: time to consider a molecular definition?
- Published in:
- Familial Cancer, 2019, v. 18, n. 4, p. 421, doi. 10.1007/s10689-019-00139-3
- By:
- Publication type:
- Article
Cost-effectiveness analysis of genetic diagnostic strategies for Lynch syndrome in Italy.
- Published in:
- PLoS ONE, 2020, v. 15, n. 7, p. 1, doi. 10.1371/journal.pone.0235038
- By:
- Publication type:
- Article
The spectrum of WRN mutations in Werner syndrome patients.
- Published in:
- Human Mutation, 2006, v. 27, n. 6, p. 558, doi. 10.1002/humu.20337
- By:
- Publication type:
- Article
Different molecular mechanisms underlie genomic deletions in the MLH1 Gene.
- Published in:
- Human Mutation, 2002, v. 20, n. 5, p. 368, doi. 10.1002/humu.10138
- By:
- Publication type:
- Article
Lynch Syndrome and Gynecologic Tumors: Incidence, Prophylaxis, and Management of Patients with Cancer.
- Published in:
- Cancers, 2023, v. 15, n. 5, p. 1400, doi. 10.3390/cancers15051400
- By:
- Publication type:
- Article
Distribution of Cerebrovascular Phenotypes According to Variants of the ENG and ACVRL1 Genes in Subjects with Hereditary Hemorrhagic Telangiectasia.
- Published in:
- Journal of Clinical Medicine, 2022, v. 11, n. 10, p. 2685, doi. 10.3390/jcm11102685
- By:
- Publication type:
- Article
Orbital Desmoid-Type Fibromatosis: A Case Report and Literature Review.
- Published in:
- 2018
- By:
- Publication type:
- Case Study
The growing complexity of the intestinal polyposis syndromes.
- Published in:
- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 11, p. 2777, doi. 10.1002/ajmg.a.36253
- By:
- Publication type:
- Article
Three unrelated patients with congenital anterior pituitary aplasia and a characteristic physical and neuropsychological phenotype: A new syndrome?
- Published in:
- 2012
- By:
- Publication type:
- Other
Identification of MuirTorre syndrome among patients with sebaceous tumors and keratoacanthomas: Role of clinical features, microsatellite instability, and immunohistochemistry.
- Published in:
- Cancer (0008543X), 2005, v. 103, n. 5, p. 1018
- By:
- Publication type:
- Article