about
BRCA1 1675delA and 1135insA account for one third of Norwegian familial breast-ovarian cancer and are associated with later disease onset than less frequent mutationsPenetrances of BRCA1 1675delA and 1135insA with respect to breast cancer and ovarian cancer.In vitro characterization of six STUB1 variants in spinocerebellar ataxia 16 reveals altered structural properties for the encoded CHIP proteins.Karyotyping of a hematologic neoplasia developing shortly after treatment for cerebral extragonadal germ cell tumor.Germline PTEN mutations are rare and highly penetrantGuidelines for follow-up of women at high risk for inherited breast cancer: consensus statement from the Biomed 2 Demonstration Programme on Inherited Breast Cancer.Novel mutations including deletions of the entire OFD1 gene in 30 families with type 1 orofaciodigital syndrome: a study of the extensive clinical variability.Comprehensive clinical and molecular analysis of 12 families with type 1 recessive cutis laxaThe International Testicular Cancer Linkage Consortium: a clinicopathologic descriptive analysis of 461 familial malignant testicular germ cell tumor kindredYounger age-at-diagnosis for familial malignant testicular germ cell tumorThe Y deletion gr/gr and susceptibility to testicular germ cell tumorOral contraceptives and the risk of breast cancer in BRCA1 and BRCA2 mutation carriers.The Norwegian founder mutations in BRCA1: high penetrance confirmed in an incident cancer series and differences observed in the risk of ovarian cancer.STUB1 mutations in autosomal recessive ataxias - evidence for mutation-specific clinical heterogeneity.Tamoxifen and risk of contralateral breast cancer in BRCA1 and BRCA2 mutation carriers: a case-control study. Hereditary Breast Cancer Clinical Study Group.Analysis of the DND1 gene in men with sporadic and familial testicular germ cell tumors.Inherited mutations in PTEN that are associated with breast cancer, cowden disease, and juvenile polyposis.Obstructive sleep apnea in Treacher Collins syndrome.A Nationwide Study of Norwegian Patients with Hereditary Angioedema with C1 Inhibitor Deficiency Identified Six Novel Mutations in SERPING1.Nontesticular cancers in relatives of testicular germ cell tumor (TGCT) patients from multiple-case TGCT familiesPrognostic significance of TP53 alterations in breast carcinoma.Increasing incidence and changing stage distribution of testicular carcinoma in Norway 1970-1987Familial testicular cancer in Norway and southern SwedenRisk of cancer in relatives of testicular cancer patients.A segregation analysis of testicular cancer based on Norwegian and Swedish familiesSomatic mutations of KIT in familial testicular germ cell tumours.Jervell and Lange-Nielsen syndrome in Norwegian children: aspects around cochlear implantation, hearing, and balance.Complete mutation screening and haplotype characterization of the BRCA1 gene in 61 familial breast cancer patients from Norway.Uptake of genetic testing and pre-test levels of mental distress in Norwegian families with known BRCA1 mutations.Efficacy of early diagnosis and treatment in women with a family history of breast cancer. European Familial Breast Cancer Collaborative Group.Primary immunodeficiency diseases: Genomic approaches delineate heterogeneous Mendelian disorders.Urologic cancer in elderly patients.Genetic factors in malignant germ-cell tumors.No evidence for constitutional chromosome instability in testicular cancer.DNA ploidy in primary testicular cancer.Correction: A Nationwide Study of Norwegian Patients with Hereditary Angioedema with C1 Inhibitor Deficiency Identified Six Novel Mutations in SERPING1.National registries of rare diseases in Europe: an overview of the current situation and experiences.Suggestive evidence for a site specific prostate cancer gene on chromosome 1p36. The CRC/BPG UK Familial Prostate Cancer Study Coordinators and Collaborators. The EU Biomed Collaborators.Second cancer after treatment of malignant germ-cell tumors.The BRCA1 syndrome and other inherited breast or breast-ovarian cancers in a Norwegian prospective series.
P50
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P50
description
Noors onderzoeker
@nl
hulumtues
@sq
researcher
@en
հետազոտող
@hy
name
Ketil R Heimdal
@es
Ketil R. Heimdal
@en
Ketil R. Heimdal
@nl
Ketil R. Heimdal
@sl
type
label
Ketil R Heimdal
@es
Ketil R. Heimdal
@en
Ketil R. Heimdal
@nl
Ketil R. Heimdal
@sl
prefLabel
Ketil R Heimdal
@es
Ketil R. Heimdal
@en
Ketil R. Heimdal
@nl
Ketil R. Heimdal
@sl
P106
P1153
7005437699
P21
P27
P31
P3835
ketil-heimdal
P496
0000-0002-8911-3508
P569
2000-01-01T00:00:00Z