Found: 17
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The penetrance of paraganglioma and pheochromocytoma in SDHB germline mutation carriers.
- Published in:
- Clinical Genetics, 2018, v. 93, n. 1, p. 60, doi. 10.1111/cge.13055
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- Publication type:
- Article
Psychosocial impact of Von Hippel–Lindau disease: levels and sources of distress.
- Published in:
- Clinical Genetics, 2010, v. 77, n. 5, p. 483, doi. 10.1111/j.1399-0004.2010.01333.x
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- Publication type:
- Article
Frequency of Von Hippel-Lindau germline mutations in classic and non-classic Von Hippel-Lindau disease identified by DNA sequencing, Southern blot analysis and multiplex ligation-dependent probe amplification.
- Published in:
- Clinical Genetics, 2007, v. 72, n. 2, p. 122, doi. 10.1111/j.1399-0004.2007.00827.x
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- Publication type:
- Article
Germline mutations in APC and MUTYH are responsible for the majority of families with attenuated familial adenomatous polyposis.
- Published in:
- Clinical Genetics, 2007, v. 71, n. 5, p. 427, doi. 10.1111/j.1399-0004.2007.00766.x
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- Article
The eye in von Hippel-Lindau disease. Long-term follow-up of screening and treatment: recommendations.
- Published in:
- 1998
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- Publication type:
- journal article
Distress in partners of individuals diagnosed with or at high risk of developing tumors due to rare hereditary cancer syndromes.
- Published in:
- Psycho-Oncology, 2011, v. 20, n. 6, p. 631, doi. 10.1002/pon.1951
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- Publication type:
- Article
Urinary tract infections and cholelithiasis in early childhood.
- Published in:
- 1995
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- Publication type:
- journal article
Targetable gene fusions identified in radioactive iodine refractory advanced thyroid carcinoma.
- Published in:
- European Journal of Endocrinology, 2019, v. 180, n. 4, p. 235, doi. 10.1530/EJE-18-0653
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- Publication type:
- Article
Quality of life is decreased in patients with paragangliomas.
- Published in:
- European Journal of Endocrinology, 2013, v. 168, n. 5, p. 689, doi. 10.1530/EJE-12-0968
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- Publication type:
- Article
Parameters of poor prognosis in preimplantation genetic testing for monogenic disorders.
- Published in:
- 2021
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- Publication type:
- journal article
Chromosomal abnormalities after ICSI in relation to semen parameters: results in 1114 fetuses and 1391 neonates from a single center.
- Published in:
- 2020
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- Publication type:
- journal article
Is colorectal surveillance indicated in patients with PTEN mutations?
- Published in:
- Colorectal Disease, 2012, v. 14, n. 9, p. e562, doi. 10.1111/j.1463-1318.2012.03121.x
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- Publication type:
- Article
A unique case of two somatic APC mutations in an early onset cribriform-morular variant of papillary thyroid carcinoma and overview of the literature.
- Published in:
- Familial Cancer, 2020, v. 19, n. 1, p. 15, doi. 10.1007/s10689-019-00146-4
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- Publication type:
- Article
Colorectal cancer risk variants at 8q23.3 and 11q23.1 are associated with disease phenotype in APC mutation carriers.
- Published in:
- Familial Cancer, 2016, v. 15, n. 4, p. 563, doi. 10.1007/s10689-016-9877-5
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- Publication type:
- Article
Contribution of bi-allelic germline MUTYH mutations to early-onset and familial colorectal cancer and to low number of adenomatous polyps: case-series and literature review.
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- Familial Cancer, 2013, v. 12, n. 1, p. 43, doi. 10.1007/s10689-012-9570-2
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- Publication type:
- Article
Recommendations to improve identification of hereditary and familial colorectal cancer in Europe.
- Published in:
- Familial Cancer, 2010, v. 9, n. 2, p. 109, doi. 10.1007/s10689-009-9291-3
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- Publication type:
- Article
No difference in phenotype of the main Dutch SDHD founder mutations.
- Published in:
- Clinical Endocrinology, 2013, v. 79, n. 6, p. 824, doi. 10.1111/cen.12223
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- Publication type:
- Article