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The Effect of Predictive Testing in Adult-Onset Neurodegenerative Diseases on Social and Personal Life.
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- Journal of Genetic Counseling, 2018, v. 27, n. 4, p. 947, doi. 10.1007/s10897-017-0195-3
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- Article
P4‐038: IS SORL1 AN AUTOSOMAL DOMINANT ALZHEIMER GENE?
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- Alzheimer's & Dementia: The Journal of the Alzheimer's Association, 2018, v. 14, p. P1447, doi. 10.1016/j.jalz.2018.06.2440
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- Publication type:
- Article
P2‐134: THE ADDED VALUE OF EXTREME PHENOTYPES IN ALZHEIMER'S DISEASE CASE‐CONTROL STUDIES.
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- Alzheimer's & Dementia: The Journal of the Alzheimer's Association, 2018, v. 14, p. P719, doi. 10.1016/j.jalz.2018.06.820
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- Publication type:
- Article
Survival after bilateral risk-reducing mastectomy in healthy BRCA1 and BRCA2 mutation carriers.
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- Breast Cancer Research & Treatment, 2019, v. 177, n. 3, p. 723, doi. 10.1007/s10549-019-05345-2
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- Publication type:
- Article
Loss of FLCN-FNIP1/2 induces a non-canonical interferon response in human renal tubular epithelial cells.
- Published in:
- eLife, 2021, p. 1, doi. 10.7554/eLife.61630
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- Publication type:
- Article
Combined germline pathogenic variants in FLCN and TP53 are associated with early onset renal cell carcinoma and brain tumors.
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- Molecular Genetics & Genomic Medicine, 2023, v. 11, n. 2, p. 1, doi. 10.1002/mgg3.2098
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- Publication type:
- Article
A Novel CCM2 Variant in a Family With Non-Progressive Cognitive Complaints and Cerebral Microbleeds.
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- American Journal of Medical Genetics. Part B: Neuropsychiatric Genetics, 2017, v. 174, n. 3, p. 220, doi. 10.1002/ajmg.b.32468
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- Article
Prophylactic Mastectomy in BRCA1/2 Mutation Carriers and Women at Risk of Hereditary Breast Cancer: Long-Term Experiences at the Rotterdam Family Cancer Clinic.
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- Annals of Surgical Oncology: An Oncology Journal for Surgeons, 2007, v. 14, n. 12, p. 3335, doi. 10.1245/s10434-007-9449-x
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- Article
Prediction of a mismatch repair gene defect by microsatellite instability and immunohistochemical analysis in endometrial tumours from HNPCC patients.
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- Journal of Pathology, 2000, v. 192, n. 3, p. 328, doi. 10.1002/1096-9896(2000)9999:9999<::AID-PATH701>3.0.CO;2-2
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- Publication type:
- Article
Pathology of cognitively healthy centenarians.
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- Alzheimer's & Dementia: The Journal of the Alzheimer's Association, 2015, v. 11, n. 7, p. P257, doi. 10.1016/j.jalz.2015.07.321
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- Article
The 100-plus study: What the oldest-old can teach us.
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- Alzheimer's & Dementia: The Journal of the Alzheimer's Association, 2014, v. 10, p. P787, doi. 10.1016/j.jalz.2014.05.1524
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- Publication type:
- Article
Genome-wide association analysis identifies three new breast cancer susceptibility loci.
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- Nature Genetics, 2012, v. 44, n. 3, p. 312, doi. 10.1038/ng.1049
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- Article
Low-penetrance susceptibility to breast cancer due to CHEK2<sup>*</sup>1100delC in noncarriers of BRCA1 or BRCA2 mutations.
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- Nature Genetics, 2002, v. 31, n. 1, p. 55
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- Article
Familial endometrial cancer in female carriers of MSH6 germline mutations.
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- Nature Genetics, 1999, v. 23, n. 2, p. 142, doi. 10.1038/13773
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- Article
Characteristics of hearing loss in HDR (hypoparathyroidism, sensorineural deafness, renal dysplasia) syndrome.
- Published in:
- 2006
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- Publication type:
- journal article
The 100-plus Study of cognitively healthy centenarians: rationale, design and cohort description.
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- European Journal of Epidemiology, 2018, v. 33, n. 12, p. 1229, doi. 10.1007/s10654-018-0451-3
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- Article
Somatic genomic alterations in retinoblastoma beyond RB1 are rare and limited to copy number changes.
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- Scientific Reports, 2016, p. 25264, doi. 10.1038/srep25264
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- Article
Effect of Comprehensive Oncogenetics Training Interventions for General Practitioners, Evaluated at Multiple Performance Levels.
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- PLoS ONE, 2015, v. 10, n. 4, p. 1, doi. 10.1371/journal.pone.0122648
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- Article
The common sense model of self-regulation and psychological adjustment to predictive genetic testing: a prospective study.
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- Psycho-Oncology, 2007, v. 16, n. 12, p. 1121, doi. 10.1002/pon.1178
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- Article
A prospective study of the impact of genetic susceptibility testing for BRCA1/2 or HNPCC on family relationships.
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- Psycho-Oncology, 2007, v. 16, n. 4, p. 320, doi. 10.1002/pon.1062
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- Publication type:
- Article
Identification of a Dutch founder mutation in MUSK causing fetal akinesia deformation sequence.
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- European Journal of Human Genetics, 2015, v. 23, n. 9, p. 1151, doi. 10.1038/ejhg.2014.273
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- Publication type:
- Article
Whole-genome sequencing in health care.
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- European Journal of Human Genetics, 2013, v. 21, p. S1, doi. 10.1038/ejhg.2013.46
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- Publication type:
- Article
Whole-genome sequencing in health care.
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- European Journal of Human Genetics, 2013, v. 21, n. 6, p. 580, doi. 10.1038/ejhg.2013.46
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- Publication type:
- Article
CRTAP mutations in lethal and severe osteogenesis imperfecta: the importance of combining biochemical and molecular genetic analysis.
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- 2009
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- Correction Notice
CRTAP mutations in lethal and severe osteogenesis imperfecta: the importance of combining biochemical and molecular genetic analysis.
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- European Journal of Human Genetics, 2009, v. 17, n. 12, p. 1560, doi. 10.1038/ejhg.2009.75
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- Publication type:
- Article
Leptin receptor deficiency: a systematic literature review and prevalence estimation based on population genetics.
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- European Journal of Endocrinology, 2020, v. 182, n. 1, p. 47, doi. 10.1530/EJE-19-0678
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- Publication type:
- Article
Gene expression profiling assigns CHEK2 1100delC breast cancers to the luminal intrinsic subtypes.
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- Breast Cancer Research & Treatment, 2012, v. 132, n. 2, p. 439, doi. 10.1007/s10549-011-1588-x
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- Publication type:
- Article
Body weight and risk of breast cancer in BRCA1/2 mutation carriers.
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- Breast Cancer Research & Treatment, 2011, v. 126, n. 1, p. 193, doi. 10.1007/s10549-010-1120-8
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- Article
Association of rare MSH6 variants with familial breast cancer.
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- Breast Cancer Research & Treatment, 2010, v. 123, n. 2, p. 315, doi. 10.1007/s10549-009-0634-4
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- Publication type:
- Article
Lack of large genomic deletions in BRIP1, PALB2, and FANCD2 genes in BRCA1/2 negative familial breast cancer.
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- 2009
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- Publication type:
- Letter
CHEK2 1100delC and male breast cancer in the Netherlands.
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- Breast Cancer Research & Treatment, 2009, v. 116, n. 2, p. 397, doi. 10.1007/s10549-008-0162-7
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- Publication type:
- Article
Distant disease-free interval, site of first relapse and post-relapse survival in BRCA1- and BRCA2-associated compared to sporadic breast cancer patients.
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- Breast Cancer Research & Treatment, 2008, v. 111, n. 2, p. 303, doi. 10.1007/s10549-007-9781-7
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- Publication type:
- Article
MDM2 SNP309 accelerates familial breast carcinogenesis independently of estrogen signaling.
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- Breast Cancer Research & Treatment, 2007, v. 104, n. 2, p. 153, doi. 10.1007/s10549-006-9407-5
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- Publication type:
- Article
Selection bias influences reported contralateral breast cancer incidence andsurvival in high risk non-BRCA1/2 patients.
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- Breast Cancer Research & Treatment, 2006, v. 95, n. 2, p. 117, doi. 10.1007/s10549-005-9054-2
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- Article
Absence of evidence for a familial breast cancer susceptibility gene at chromosome 8p12-p22.
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- Oncogene, 2000, v. 19, n. 36, p. 4170, doi. 10.1038/sj.onc.1203735
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- Article
Biallelic germline mutations of mismatch-repair genes: a possible cause for multiple pediatric malignancies.
- Published in:
- 2007
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- Publication type:
- journal article
PRDM10 directs FLCN expression in a novel disorder overlapping with Birt–Hogg–Dubé syndrome and familial lipomatosis.
- Published in:
- Human Molecular Genetics, 2023, v. 32, n. 7, p. 1223, doi. 10.1093/hmg/ddac288
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- Article
Mutant BRCA1 alleles transmission: Different approaches and different biases.
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- International Journal of Cancer, 2005, v. 113, n. 1, p. 166, doi. 10.1002/ijc.20541
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- Publication type:
- Article
A BRCA1/2 mutation, high breast density and prominent pushing margins of a tumor independently contribute to a frequent false-negative mammography.
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- International Journal of Cancer, 2002, v. 102, n. 1, p. 91, doi. 10.1002/ijc.10666
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- Publication type:
- Article
A novel Fanconi anaemia subtype associated with a dominant-negative mutation in RAD51.
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- Nature Communications, 2015, v. 6, n. 12, p. 8829, doi. 10.1038/ncomms9829
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- Article
No evidence for increased prevalence of colorectal carcinoma in 399 Dutch patients with Birt-Hogg-Dubé syndrome.
- Published in:
- 2020
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- Publication type:
- journal article
Improved overall survival after contralateral risk-reducing mastectomy in BRCA1/2 mutation carriers with a history of unilateral breast cancer: A prospective analysis.
- Published in:
- International Journal of Cancer, 2015, v. 136, n. 3, p. 668, doi. 10.1002/ijc.29032
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- Publication type:
- Article
Relevance and efficacy of breast cancer screening in BRCA1 and BRCA2 mutation carriers above 60 years: A national cohort study.
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- International Journal of Cancer, 2014, v. 135, n. 12, p. 2940, doi. 10.1002/ijc.28941
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- Publication type:
- Article
A Meta-Analysis of Retinoblastoma Copy Numbers Refines the List of Possible Driver Genes Involved in Tumor Progression.
- Published in:
- PLoS ONE, 2016, v. 11, n. 4, p. 1, doi. 10.1371/journal.pone.0153323
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- Publication type:
- Article
Uptake of prenatal diagnostic testing for retinoblastoma compared to other hereditary cancer syndromes in the Netherlands.
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- Familial Cancer, 2017, v. 16, n. 2, p. 271, doi. 10.1007/s10689-016-9943-z
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- Publication type:
- Article
RB1 mutations and second primary malignancies after hereditary retinoblastoma.
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- Familial Cancer, 2012, v. 11, n. 2, p. 225, doi. 10.1007/s10689-011-9505-3
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- Publication type:
- Article
Long Term Follow-up of HNPCC Gene Mutation Carriers: Compliance with Screening and Satisfaction with Counseling and Screening Procedures.
- Published in:
- Familial Cancer, 2005, v. 4, n. 4, p. 295, doi. 10.1007/s10689-005-0658-9
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- Publication type:
- Article
Genomic landscape of retinoblastoma in Rb<sup>−/−</sup>p130<sup>−/−</sup> mice resembles human retinoblastoma.
- Published in:
- Genes, Chromosomes & Cancer, 2017, v. 56, n. 3, p. 231, doi. 10.1002/gcc.22429
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- Publication type:
- Article
High resolution SNP array profiling identifies variability in retinoblastoma genome stability.
- Published in:
- Genes, Chromosomes & Cancer, 2014, v. 53, n. 1, p. 1, doi. 10.1002/gcc.22111
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- 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
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- Publication type:
- Article