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APC mutation spectrum of Norwegian familial adenomatous polyposis families: high ratio of novel mutations.
- Published in:
- Journal of Cancer Research & Clinical Oncology, 2009, v. 135, n. 10, p. 1463, doi. 10.1007/s00432-009-0594-4
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- Publication type:
- Article
APC mutation spectrum of Norwegian familial adenomatous polyposis families: high ratio of novel mutations.
- Published in:
- 2009
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- Publication type:
- Correction Notice
Elevated FVIII levels in hereditary hemorrhagic telangiectasia: Implications for clinical management.
- Published in:
- Laryngoscope Investigative Otolaryngology, 2024, v. 9, n. 1, p. 1, doi. 10.1002/lio2.1196
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- Publication type:
- Article
Abnormally wide eustachian tubes involving the sphenoid bone: A collection.
- Published in:
- 2018
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- Publication type:
- Case Study
BRCA1 and BRCA2 mutation spectrum -- an update on mutation distribution in a large cancer genetics clinic in Norway.
- Published in:
- Hereditary Cancer in Clinical Practice, 2018, v. 16, p. 1, doi. 10.1186/s13053-017-0085-6
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- Publication type:
- Article
STUB1 mutations in autosomal recessive ataxias - evidence for mutation-specific clinical heterogeneity.
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- Orphanet Journal of Rare Diseases, 2014, v. 9, n. 1, p. 2, doi. 10.1186/s13023-014-0146-0
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- Publication type:
- Article
STUB1 mutations in autosomal recessive ataxias - evidence for mutation-specific clinical heterogeneity.
- Published in:
- 2014
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- Publication type:
- journal article
Complete mutation screening and haplotype characterization of the BRCA1 gene in 61 familial breast cancer patients from Norway.
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- Disease Markers, 2005, v. 21, n. 1, p. 29, doi. 10.1155/2005/542928
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- Publication type:
- Article
BRCA1 1675delA and 1135insA Account for One Third of Norwegian Familial Breast-Ovarian Cancer and Are Associated with Later Disease Onset than Less Frequent Mutations.
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- Disease Markers, 1999, v. 15, n. 1-3, p. 79, doi. 10.1155/1999/278269
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- Publication type:
- Article
Costs and Benefits of Diagnosing Familial Breast Cancer.
- Published in:
- Disease Markers, 1999, v. 15, n. 1-3, p. 167, doi. 10.1155/1999/751892
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- Publication type:
- Article
Uptake of Genetic Testing and Pre-Test Levels of Mental Distress in Norwegian Families with Known BRCA1 Mutations.
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- Disease Markers, 1999, v. 15, n. 1-3, p. 139, doi. 10.1155/1999/581346
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- Publication type:
- Article
Use of Cytology to Diagnose Inherited Breast Cancer.
- Published in:
- 1999
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- Publication type:
- Abstract
Efficacy of Early Diagnosis and Treatment in Women with a Family History of Breast Cancer.
- Published in:
- Disease Markers, 1999, v. 15, n. 1-3, p. 179
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- Publication type:
- Article
Association studies of a polymorphism in the Wilms' tumor 1 locus in norwegian patients with testicular cancer.
- Published in:
- International Journal of Cancer, 1994, v. 58, n. 4, p. 523, doi. 10.1002/ijc.2910580412
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- Publication type:
- Article
Rare Ha- ras1 alleles and predisposition to testicular cancer.
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- International Journal of Cancer, 1993, v. 53, n. 6, p. 938, doi. 10.1002/ijc.2910530612
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- Publication type:
- Article
Inherited Breast Carcinoma: Prospective findings in 1 194 women at risk.
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- Acta Oncologica, 1996, v. 35, n. S8, p. 7, doi. 10.3109/02841869609098515
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- Publication type:
- Article
National Registries of Rare Diseases in Europe: An Overview of the Current Situation and Experiences.
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- Public Health Genomics, 2015, v. 18, n. 1, p. 20, doi. 10.1159/000365897
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- Publication type:
- Article
Whole‐exome sequencing in syndromic craniosynostosis increases diagnostic yield and identifies candidate genes in osteogenic signaling pathways.
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- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 5, p. 1464, doi. 10.1002/ajmg.a.62663
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- Publication type:
- Article
Further delineation of an entity caused by <italic>CREBBP</italic> and <italic>EP300</italic> mutations but not resembling Rubinstein–Taybi syndrome.
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- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 4, p. 862, doi. 10.1002/ajmg.a.38626
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- Publication type:
- Article
Quality of life in patients with hereditary hemorrhagic telangiectasia in Norway: A population based study.
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- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 6, p. 1269, doi. 10.1002/ajmg.a.35309
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- Publication type:
- Article
Localization to Xq27 of a susceptibility gene for testicular germ-cell tumours.
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- Nature Genetics, 2000, v. 24, n. 2, p. 197, doi. 10.1038/72877
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- Publication type:
- Article
Correction: A Nationwide Study of Norwegian Patients with Hereditary Angioedema with C1 Inhibitor Deficiency Identified Six Novel Mutations in SERPING1.
- Published in:
- 2015
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- Publication type:
- Correction Notice
A Nationwide Study of Norwegian Patients with Hereditary Angioedema with C1 Inhibitor Deficiency Identified Six Novel Mutations in SERPING1.
- Published in:
- PLoS ONE, 2015, v. 10, n. 7, p. 1, doi. 10.1371/journal.pone.0131637
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- Publication type:
- Article
No germline TP53 mutations detected in familial and bilateral testicular cancer.
- Published in:
- Genes, Chromosomes & Cancer, 1993, v. 6, n. 2, p. 92, doi. 10.1002/gcc.2870060205
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- Publication type:
- Article
Association between obstructive sleep apnea and health-related quality of life in individuals affected with Treacher Collins syndrome.
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- European Archives of Oto-Rhino-Laryngology, 2013, v. 270, n. 11, p. 2879, doi. 10.1007/s00405-013-2409-0
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- Publication type:
- Article
Obstructive sleep apnea in Treacher Collins syndrome.
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- European Archives of Oto-Rhino-Laryngology, 2012, v. 269, n. 1, p. 331, doi. 10.1007/s00405-011-1649-0
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- Publication type:
- Article
Oral Contraceptives and the Risk of Breast Cancer in BRCA1 and BRCA2 Mutation Carriers.
- Published in:
- JNCI: Journal of the National Cancer Institute, 2002, v. 94, n. 23, p. 1773, doi. 10.1093/jnci/94.23.1773
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- Publication type:
- Article
Histological Features of Sporadic and Familial Testicular Germ Cell Tumors Compared and Analysis of Age-Related Changes of Histology.
- Published in:
- Cancers, 2021, v. 13, n. 7, p. 1652, doi. 10.3390/cancers13071652
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- Publication type:
- Article
In vitro characterization of six STUB1 variants in spinocerebellar ataxia 16 reveals altered structural properties for the encoded CHIP proteins.
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- Bioscience Reports, 2017, v. 37, n. 2, p. 1, doi. 10.1042/BSR20170251
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- Publication type:
- Article
Effectiveness and safety of everolimus treatment in patients with tuberous sclerosis complex in real-world clinical practice.
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- Orphanet Journal of Rare Diseases, 2023, v. 18, n. 1, p. 1, doi. 10.1186/s13023-023-02982-1
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- Publication type:
- Article
Intranasal bevacizumab injections improve quality of life in HHT patients.
- Published in:
- 2020
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- Publication type:
- journal article
Pentraxin 3 level is elevated in hereditary hemorrhagic telangiectasia and reflects the severity of disease-associated epistaxis.
- Published in:
- 2019
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- Publication type:
- journal article
Long-term experience with intranasal bevacizumab therapy.
- Published in:
- 2018
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- Publication type:
- journal article
Osteonecrosis after intranasal injection with bevacizumab in treating hereditary hemorrhagic telangiectasia: A case report.
- Published in:
- 2018
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- Publication type:
- Case Study
Non-pheochromocytoma (PCC)/paraganglioma (PGL) tumors in patients with succinate dehydrogenase-related PCC-PGL syndromes: a clinicopathological and molecular analysis.
- Published in:
- European Journal of Endocrinology, 2014, v. 170, n. 1, p. 1, doi. 10.1530/EJE-13-0623
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- Publication type:
- Article
Clinical and Biochemical Long-Term Toxicity after Postoperative Cisplatin-Based Chemotherapy in Patients with Low-Stage Testicular Cancer.
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- Oncology, 1995, v. 52, n. 4, p. 300, doi. 10.1159/000227478
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- Publication type:
- Article
Health‐related quality of life in Norwegian adults with Fabry disease: Disease severity, pain, fatigue and psychological distress.
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- Journal of Inherited Metabolic Disease Reports, 2021, v. 62, n. 1, p. 56, doi. 10.1002/jmd2.12240
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- Publication type:
- Article
Nontesticular cancers in relatives of testicular germ cell tumor (TGCT) patients from multiple-case TGCT families.
- Published in:
- Cancer Medicine, 2015, v. 4, n. 7, p. 1069, doi. 10.1002/cam4.450
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- Publication type:
- Article
Uptake of BRCA1 Genetic Testing in Adult Sisters and Daughters of Known Mutation Carriers in Norway.
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- Journal of Genetic Counseling, 2003, v. 12, n. 5, p. 405, doi. 10.1023/A:1025864703405
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- Publication type:
- Article
The impact of demographic and clinical characteristics on the trajectories of health-related quality of life among patients with Fabry disease.
- Published in:
- 2021
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- Publication type:
- journal article
Prospectively detected cancer in familial breast/ovarian cancer screening.
- Published in:
- Acta Obstetricia et Gynecologica Scandinavica, 1999, v. 78, n. 10, p. 906, doi. 10.1080/j.1600-0412.1999.781013.x
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- Publication type:
- Article
Survival in prospectively ascertained familial breast cancer: Analysis of a series stratified by tumour characteristics, BRCA mutations and oophorectomy.
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- International Journal of Cancer, 2002, v. 101, n. 6, p. 555, doi. 10.1002/ijc.10641
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- Publication type:
- Article
Inherited retinal disease in Norway – a characterization of current clinical and genetic knowledge.
- Published in:
- Acta Ophthalmologica (1755375X), 2020, v. 98, n. 3, p. 286, doi. 10.1111/aos.14218
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- Publication type:
- Article
Analysis of testicular cancer data using a frailty modelwith familial dependence.
- Published in:
- Statistics in Medicine, 2004, v. 23, n. 4, p. 617, doi. 10.1002/sim.1614
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- Publication type:
- Article
Younger age-at-diagnosis for familial malignant testicular germ cell tumor.
- Published in:
- Familial Cancer, 2009, v. 8, n. 4, p. 451, doi. 10.1007/s10689-009-9264-6
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- Publication type:
- Article
Psychological and cancer-specific distress at 18 months post-testing in women with demonstrated BRCA1 mutations for hereditary breast/ovarian cancer.
- Published in:
- Familial Cancer, 2008, v. 7, n. 3, p. 245
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- Publication type:
- Article
Psychological distress in women at risk of hereditary breast/ovarian or HNPCC cancers in the absence of demonstrated mutations.
- Published in:
- Familial Cancer, 2005, v. 4, n. 2, p. 121, doi. 10.1007/s10689-004-7995-y
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- Publication type:
- Article
BRCA1 testing with definitive results: a prospective study of psychological distress in a large clinic-based sample.
- Published in:
- Familial Cancer, 2004, v. 3, n. 1, p. 21
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- Publication type:
- Article
Frequent loss of 11p13 and 11p15 loci in male germ cell tumours.
- Published in:
- Genes, Chromosomes & Cancer, 1993, v. 7, n. 2, p. 96, doi. 10.1002/gcc.2870070206
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- Publication type:
- Article
Novel Mutations Including Deletions of the Entire OFD1 Gene in 30 Families with Type 1 Orofaciodigital Syndrome: A Study of the Extensive Clinical Variability.
- Published in:
- Human Mutation, 2013, v. 34, n. 1, p. 237, doi. 10.1002/humu.22224
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- Publication type:
- Article