about
Identification of a Dutch founder mutation in MUSK causing fetal akinesia deformation sequencePLS3 mutations in X-linked osteoporosis with fracturesCRTAP mutations in lethal and severe osteogenesis imperfecta: the importance of combining biochemical and molecular genetic analysisGenome-wide association studies identify four ER negative-specific breast cancer risk lociGenome-wide association study identifies novel breast cancer susceptibility lociA novel Fanconi anaemia subtype associated with a dominant-negative mutation in RAD51Familial endometrial cancer in female carriers of MSH6 germline mutationsLow-penetrance susceptibility to breast cancer due to CHEK2(*)1100delC in noncarriers of BRCA1 or BRCA2 mutationsSomatic mutations found in the healthy blood compartment of a 115-yr-old woman demonstrate oligoclonal hematopoiesisLarge-scale genotyping identifies 41 new loci associated with breast cancer risk.A genome-wide association study of early-onset breast cancer identifies PFKM as a novel breast cancer gene and supports a common genetic spectrum for breast cancer at any age.Genetically Predicted Body Mass Index and Breast Cancer Risk: Mendelian Randomization Analyses of Data from 145,000 Women of European DescentWhole-genome sequencing in health care. Recommendations of the European Society of Human Genetics.Whole-genome sequencing in health care: recommendations of the European Society of Human Genetics.NPHP4 variants are associated with pleiotropic heart malformations.Breast cancer screening in high-risk women. Rotterdam Committee of Medical and Genetic Counseling.Molecular profiles of BRCA1-mutated and matched sporadic breast tumours: relation with clinico-pathological featuresLarge regional differences in the frequency of distinct BRCA1/BRCA2 mutations in 517 Dutch breast and/or ovarian cancer families.Survival and prognostic factors in BRCA1-associated breast cancer.Satisfaction with prophylactic mastectomy and breast reconstruction in genetically predisposed women.Tumour characteristics, survival and prognostic factors of hereditary breast cancer from BRCA2-, BRCA1- and non-BRCA1/2 families as compared to sporadic breast cancer cases.Distant disease-free interval, site of first relapse and post-relapse survival in BRCA1- and BRCA2-associated compared to sporadic breast cancer patients.Sensitivity to first-line chemotherapy for metastatic breast cancer in BRCA1 and BRCA2 mutation carriers.A novel splice site mutation in the noncoding region of BRCA2: implications for Fanconi anemia and familial breast cancer diagnostics.Evaluation of linkage of breast cancer to the putative BRCA3 locus on chromosome 13q21 in 128 multiple case families from the Breast Cancer Linkage ConsortiumMolecular analysis of hereditary nonpolyposis colorectal cancer in the United States: high mutation detection rate among clinically selected families and characterization of an American founder genomic deletion of the MSH2 gene.The CHEK2 1100delC mutation identifies families with a hereditary breast and colorectal cancer phenotype.Variants in CHEK2 other than 1100delC do not make a major contribution to breast cancer susceptibilityBreast cancer after prophylactic bilateral mastectomy in women with a BRCA1 or BRCA2 mutation.Coregulation of FANCA and BRCA1 in human cellsIdentical but not the same: the value of discordant monozygotic twins in genetic research.Exposure to diagnostic radiation and risk of breast cancer among carriers of BRCA1/2 mutations: retrospective cohort study (GENE-RAD-RISK).BRCA1 genomic deletions are major founder mutations in Dutch breast cancer patients.MicroRNA related polymorphisms and breast cancer risk.Oral contraceptives and breast cancer risk in the international BRCA1/2 carrier cohort study: a report from EMBRACE, GENEPSO, GEO-HEBON, and the IBCCS Collaborating Group.A locus on 19p13 modifies risk of breast cancer in BRCA1 mutation carriers and is associated with hormone receptor-negative breast cancer in the general populationTumour characteristics and prognosis of breast cancer patients carrying the germline CHEK2*1100delC variantExtending the p16-Leiden tumour spectrum by respiratory tract tumours.Pathology of ovarian cancers in BRCA1 and BRCA2 carriers.Genomic profiling of CHEK2*1100delC-mutated breast carcinomas.
P50
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P50
description
onderzoeker
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name
Hanne Meijers-Heijboer
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Hanne Meijers-Heijboer
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Hanne Meijers-Heijboer
@es
Hanne Meijers-Heijboer
@nl
Hanne Meijers-Heijboer
@sl
type
label
Hanne Meijers-Heijboer
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Hanne Meijers-Heijboer
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Hanne Meijers-Heijboer
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Hanne Meijers-Heijboer
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Hanne Meijers-Heijboer
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prefLabel
Hanne Meijers-Heijboer
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Hanne Meijers-Heijboer
@en
Hanne Meijers-Heijboer
@es
Hanne Meijers-Heijboer
@nl
Hanne Meijers-Heijboer
@sl
P106
P21
P31
P569
2000-01-01T00:00:00Z