Found: 12
Select item for more details and to access through your institution.
Mutations in SMAD3 cause a syndromic form of aortic aneurysms and dissections with early-onset osteoarthritis.
- Published in:
- Nature Genetics, 2011, v. 43, n. 2, p. 121, doi. 10.1038/ng.744
- By:
- Publication type:
- Article
Low-penetrance susceptibility to breast cancer due to CHEK2<sup>*</sup>1100delC in noncarriers of BRCA1 or BRCA2 mutations.
- Published in:
- Nature Genetics, 2002, v. 31, n. 1, p. 55
- By:
- Publication type:
- Article
Clinical Aspects of SDHA-Related Pheochromocytoma and Paraganglioma: A Nationwide Study.
- Published in:
- 2017
- By:
- Publication type:
- journal article
Complex MAX Rearrangement in a Family With Malignant Pheochromocytoma, Renal Oncocytoma, and Erythrocytosis.
- Published in:
- 2016
- By:
- Publication type:
- journal article
Parasympathetic paragangliomas are part of the Von Hippel-Lindau syndrome.
- Published in:
- 2009
- By:
- Publication type:
- journal article
Treatment of inoperable or metastatic paragangliomas and pheochromocytomas with peptide receptor radionuclide therapy using <sup>177</sup>Lu-DOTATATE.
- Published in:
- European Journal of Endocrinology, 2019, v. 181, n. 1, p. 45, doi. 10.1530/EJE-18-0901
- By:
- Publication type:
- Article
Retinal haemangioblastomas in von Hippel–Lindau germline mutation carriers: progression, complications and treatment outcome.
- Published in:
- Acta Ophthalmologica (1755375X), 2020, v. 98, n. 5, p. 464, doi. 10.1111/aos.14360
- By:
- Publication type:
- Article
Retinal hemangioblastomas in Von Hippel‐Lindau germline mutation carriers: progression, complications and treatment outcome.
- Published in:
- Acta Ophthalmologica (1755375X), 2019, v. 97, p. N.PAG, doi. 10.1111/j.1755-3768.2019.5250
- By:
- Publication type:
- Article
Men with metastatic prostate cancer carrying a pathogenic germline variant in breast cancer genes: disclosure of genetic test results to relatives.
- Published in:
- Familial Cancer, 2024, v. 23, n. 2, p. 165, doi. 10.1007/s10689-024-00377-0
- By:
- Publication type:
- Article
Genome-wide linkage scan in Dutch hereditary non-BRCA1/2 breast cancer families identifies 9q21-22 as a putative breast cancer susceptibility locus.
- Published in:
- Genes, Chromosomes & Cancer, 2008, v. 47, n. 11, p. 947, doi. 10.1002/gcc.20597
- By:
- Publication type:
- Article
Arthroscopic soft-tissue interposition arthroplasty of the glenohumeral joint for ochronotic arthropathy: A case report.
- Published in:
- 2020
- By:
- Publication type:
- Case Study
Paraganglioma and pheochromocytoma upon maternal transmission of SDHD mutations.
- Published in:
- BMC Medical Genetics, 2014, v. 15, n. 1, p. 2, doi. 10.1186/s12881-014-0111-8
- By:
- Publication type:
- Article