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Lista de obras de Nicoline Hoogerbrugge

A DGGE system for comprehensive mutation screening ofBRCA1andBRCA2: application in a Dutch cancer clinic setting

article

A germline homozygous mutation in the base-excision repair gene NTHL1 causes adenomatous polyposis and colorectal cancer

artículo científico publicado en 2015

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 population

artículo científico publicado en 2010

A method to assess the clinical significance of unclassified variants in the BRCA1 and BRCA2 genes based on cancer family history

artículo científico publicado en 2009

A molecular inversion probe-based next-generation sequencing panel to detect germline mutations in Chinese early-onset colorectal cancer patients

artículo científico publicado en 2017

A multiplex method for the detection of serum antibodies against in silico-predicted tumor antigens

artículo científico publicado en 2014

A non-BRCA1/2 hereditary breast cancer sub-group defined by aCGH profiling of genetically related patients.

artículo científico publicado en 2011

A nonsynonymous polymorphism in IRS1 modifies risk of developing breast and ovarian cancers in BRCA1 and ovarian cancer in BRCA2 mutation carriers

artículo científico publicado en 2012

A patient decision aid for risk-reducing surgery in premenopausal BRCA1/2 mutation carriers: Development process and pilot testing.

artículo científico publicado en 2017

A simple method for co-segregation analysis to evaluate the pathogenicity of unclassified variants; BRCA1 and BRCA2 as an example

artículo científico publicado en 2009

A substantial part of the fallopian tube is left after standard prophylactic bilateral salpingo-oophorectomy

scientific article published on 01 September 2006

Accuracy of Hereditary Diffuse Gastric Cancer Testing Criteria and Outcomes in Patients With a Germline Mutation in CDH1.

artículo científico publicado en 2015

Added value of family history in counseling about risk of BRCA1/2 mutation in early-onset epithelial ovarian cancer.

artículo científico publicado en 2013

Adding familial risk assessment to faecal occult blood test can increase the effectiveness of population-based colorectal cancer screening

artículo científico publicado en 2011

Adequacy of family history taking in ovarian cancer patients: a population-based study.

artículo científico publicado en 2012

Age at menarche and menopause and breast cancer risk in the International BRCA1/2 Carrier Cohort Study.

artículo científico publicado en 2007

Alcohol Consumption, Cigarette Smoking, and Risk of Breast Cancer for BRCA1 and BRCA2 Mutation Carriers: Results from The BRCA1 and BRCA2 Cohort Consortium

scientific article published on 02 December 2019

Association of the variants CASP8 D302H and CASP10 V410I with breast and ovarian cancer risk in BRCA1 and BRCA2 mutation carriers

artículo científico publicado en 2010

Atorvastatin dose-dependently decreases hepatic lipase activity in type 2 diabetes: effect of sex and the LIPC promoter variant

artículo científico publicado en 2003

Atorvastatin increases low-density lipoprotein size and enhances high-density lipoprotein cholesterol concentration in male, but not in female patients with familial hypercholesterolemia

artículo científico publicado en 1999

Atorvastatin, diabetic dyslipidemia, and cognitive functioning

artículo científico publicado en 2002

BRCA1-associated breast cancers present differently from BRCA2-associated and familial cases: long-term follow-up of the Dutch MRISC Screening Study

artículo científico publicado en 2010

BRCA1/2 mutation carriers are potentially at higher cardiovascular risk

artículo científico

BRCA1/2 testing in newly diagnosed breast and ovarian cancer patients without prior genetic counselling: the DNA-BONus study.

artículo científico publicado en 2015

Body weight and risk of breast cancer in BRCA1/2 mutation carriers ⬇️

artículo científico publicado el 21 de agosto de 2010

Boosting care and knowledge about hereditary cancer: European Reference Network on Genetic Tumour Risk Syndromes

scientific article published on 01 April 2019

Breast and ovarian cancer risks in a large series of clinically ascertained families with a high proportion of BRCA1 and BRCA2 Dutch founder mutations

artículo científico publicado en 2013

Breast cancer size estimation with MRI in BRCA mutation carriers and other high risk patients.

artículo científico publicado en 2013

Breast self-examination education for BRCA mutation carriers by clinical nurse specialists

artículo científico publicado en 2015

Breast tumor characteristics of BRCA1 and BRCA2 gene mutation carriers on MRI.

artículo científico publicado en 2008

CDH1-related hereditary diffuse gastric cancer syndrome: clinical variations and implications for counseling.

artículo científico publicado en 2011

Can we test for hereditary cancer at 18 years when we start surveillance at 25? Patient reported outcomes

artículo científico publicado en 2013

Cancer prevention by aspirin in children with Constitutional Mismatch Repair Deficiency (CMMRD)

Cancer risks in BRCA2 families: estimates for sites other than breast and ovary.

artículo científico publicado en 2005

Cancer-related distress in unselected women with newly diagnosed breast or ovarian cancer undergoing BRCA1/2 testing without pretest genetic counseling

scientific article published on 18 October 2018

Candidate Gene Discovery in Hereditary Colorectal Cancer and Polyposis Syndromes-Considerations for Future Studies

artículo científico publicado en 2020

Candidate colorectal cancer predisposing gene variants in Chinese early-onset and familial cases

artículo científico publicado en 2015

Candidate genetic modifiers for breast and ovarian cancer risk in BRCA1 and BRCA2 mutation carriers

artículo científico publicado en 2014

Carbohydrate and lipid metabolism during various growth hormone dosing regimens in girls with Turner syndrome. Dutch Working Group on Growth Hormone.

artículo científico publicado en 1999

Cardiovascular risk of BRCA1/2 mutation carriers: A review

artículo científico publicado en 2016

Characterization of Familial Non-BRCA1/2 Breast Tumors by Loss of Heterozygosity and Immunophenotyping

artículo científico publicado en 2006

Childhood neuroendocrine tumours: a descriptive study revealing clues for genetic predisposition

artículo científico publicado en 2016

Chromosome 3 translocations and familial renal cell cancer

artículo científico publicado en 2004

Chromosome 3 translocations and the risk to develop renal cell cancer: a Dutch intergroup study

artículo científico publicado en 2003

Chromosome 8q23.3 and 11q23.1 variants modify colorectal cancer risk in Lynch syndrome.

artículo científico publicado en 2008

Clinical utility gene card for: Hereditary diffuse gastric cancer (HDGC)

artículo científico publicado en 2013

Colorectal Cancer Risk in Patients With Lynch Syndrome and Inflammatory Bowel Disease

artículo científico publicado en 2016

Colorectal cancer risk variants at 8q23.3 and 11q23.1 are associated with disease phenotype in APC mutation carriers.

artículo científico publicado en 2016

Colorectal cancer risk variants on 11q23 and 15q13 are associated with unexplained adenomatous polyposis

artículo científico publicado en 2013

Common breast cancer susceptibility alleles and the risk of breast cancer for BRCA1 and BRCA2 mutation carriers: implications for risk prediction

artículo científico publicado en 2010

Common genetic variants and modification of penetrance of BRCA2-associated breast cancer

artículo científico publicado en 2010

Common genetic variation at BARD1 is not associated with breast cancer risk in BRCA1 or BRCA2 mutation carriers

artículo científico publicado en 2011

Comparability versus statistical correctness.

artículo científico publicado en 2013

Compound heterozygosity for two MSH2 mutations suggests mild consequences of the initiation codon variant c.1A>G of MSH2.

artículo científico publicado en 2008

Constitutive expression of γ-H2AX has prognostic relevance in triple negative breast cancer

artículo científico publicado en 2011

Corneal arcus: indicator for severity of coronary atherosclerosis?

scientific article published on 01 October 1999

Correction: Common Genetic Variants and Modification of Penetrance of BRCA2-Associated Breast Cancer

scholarly article by Mia M Gaudet published in November 2010

Cost effectiveness of a new strategy to identify HNPCC patients

artículo científico publicado en 2005

Cost-effectiveness of screening women with familial risk for breast cancer with magnetic resonance imaging

artículo científico publicado en 2013

Current clinical selection strategies for identification of hereditary non-polyposis colorectal cancer families are inadequate: a meta-analysis

artículo científico publicado en 2004

DNA glycosylases involved in base excision repair may be associated with cancer risk in BRCA1 and BRCA2 mutation carriers

artículo científico publicado en 2014

DNA-testing for BRCA1/2 prior to genetic counselling in patients with breast cancer: design of an intervention study, DNA-direct

artículo científico publicado en 2012

Danazol in the treatment of endometriosis and hereditary angio-oedema

scientific article published on 01 June 1995

Decision analysis of prophylactic surgery or screening for BRCA1 mutation carriers: a more prominent role for oophorectomy

artículo científico publicado en 2002

Deficient mismatch repair system in patients with sporadic advanced colorectal cancer

artículo científico publicado en 2009

Deleterious Germline BLM Mutations and the Risk for Early-onset Colorectal Cancer

artículo científico publicado en 2015

Determinants of adherence to recommendations for cancer prevention among Lynch Syndrome mutation carriers: A qualitative exploration

artículo científico publicado en 2017

Differences in natural history between breast cancers in BRCA1 and BRCA2 mutation carriers and effects of MRI screening-MRISC, MARIBS, and Canadian studies combined

artículo científico publicado en 2012

Doxazosin and hydrochlorothiazide equally affect arterial wall thickness in hypertensive males with hypercholesterolaemia (the DAPHNE study). Doxazosin Atherosclerosis Progression Study in Hypertensives in the Netherlands.

artículo científico publicado en 2002

EPCAM deletion carriers constitute a unique subgroup of Lynch syndrome patients

artículo científico publicado en 2013

Early salpingectomy (TUbectomy) with delayed oophorectomy to improve quality of life as alternative for risk-reducing salpingo-oophorectomy in BRCA1/2 mutation carriers (TUBA study): a prospective non-randomised multicentre study

artículo científico publicado en 2015

Easy-to-use decision aids for improved cancer family history collection and use among oncology practices

scientific article published on 02 September 2014

Easy-to-use online referral test detects most patients with a high familial risk of colorectal cancer

scientific article published on 01 January 2014

Electronic reminders for pathologists promote recognition of patients at risk for Lynch syndrome: cluster-randomised controlled trial

artículo científico publicado en 2010

Estrogen replacement decreases the level of antibodies against oxidized low-density lipoprotein in postmenopausal women with coronary heart disease

artículo científico publicado en 1998

Evaluation of yield and experiences of age-related molecular investigation for heritable and nonheritable causes of mismatch repair deficient colorectal cancer to identify Lynch syndrome

artículo científico publicado en 2020

Exome sequencing of germline DNA from non-BRCA1/2 familial breast cancer cases selected on the basis of aCGH tumor profiling

artículo científico publicado en 2013

Factors affecting sensitivity and specificity of screening mammography and MRI in women with an inherited risk for breast cancer

artículo científico publicado en 2006

Familial colorectal cancer risk assessment needs improvement for more effective cancer prevention in relatives

artículo científico publicado en 2013

Familial gastric cancer: detection of a hereditary cause helps to understand its etiology

artículo científico publicado en 2012

Familial gastric cancer: guidelines for diagnosis, treatment and periodic surveillance.

artículo científico publicado en 2012

Female BRCA mutation carriers with a preference for prophylactic mastectomy are more likely to participate an educational-support group and to proceed with the preferred intervention within 2 years

artículo científico publicado en 2010

Finding all BRCA pathogenic mutation carriers: best practice models

artículo científico publicado en 2016

Focusing on patient needs and preferences may improve genetic counseling for colorectal cancer

artículo científico publicado en 2012

Fourfold increased detection of Lynch syndrome by raising age limit for tumour genetic testing from 50 to 70 years is cost-effective.

artículo científico publicado en 2014

Gastric cancer in three relatives of a patient with a biallelic IL12RB1 mutation

scientific article published on 01 March 2015

Gemfibrozil decreases autoantibodies against oxidized low-density lipoprotein in men with combined hyperlipidaemia

artículo científico publicado en 1998

Genetic testing for Lynch syndrome in the first year of colorectal cancer: a review of the psychological impact

artículo científico publicado en 2009

Genetic uptake in BRCA-mutation families is related to emotional and behavioral communication characteristics of index patients.

artículo científico publicado en 2005

Genome-wide linkage scan in Dutch hereditary non-BRCA1/2 breast cancer families identifies 9q21-22 as a putative breast cancer susceptibility locus

artículo científico publicado en 2008

Genomewide high-density SNP linkage analysis of non-BRCA1/2 breast cancer families identifies various candidate regions and has greater power than microsatellite studies

artículo científico publicado en 2007

Germline MUTYH gene mutations are not frequently found in unselected patients with papillary breast carcinoma.

artículo científico publicado en 2014

Germline activating TYK2 mutations in pediatric patients with two primary acute lymphoblastic leukemia occurrences

artículo científico publicado en 2016

Germline copy number variation and cancer risk

artículo científico publicado en 2010

Germline deletions in the tumour suppressor gene FOCAD are associated with polyposis and colorectal cancer development.

artículo científico publicado en 2015

Germline epigenetic silencing of the tumor suppressor gene PTPRJ in early-onset familial colorectal cancer

artículo científico publicado en 2010

Germline mutations in the spindle assembly checkpoint genes BUB1 and BUB3 are risk factors for colorectal cancer.

artículo científico publicado en 2013

Group medical visits in the follow-up of women with a BRCA mutation: design of a randomized controlled trial

artículo científico publicado en 2011

Growth hormone normalizes hepatic lipase in hypothyroid rat liver

scientific journal article

Growth hormone normalizes low-density lipoprotein receptor gene expression in hypothyroid rats

article

Growth hormone restores hepatic lipase mRNA levels but the translation is impaired in hepatocytes of hypothyroid rats

scientific article published on 01 April 1997

HNF4A immunohistochemistry facilitates distinction between primary and metastatic breast and gastric carcinoma

artículo científico publicado en 2014

Haplotype structure in Ashkenazi Jewish BRCA1 and BRCA2 mutation carriers

artículo científico publicado en 2011

Health risks for ataxia-telangiectasia mutated heterozygotes: a systematic review, meta-analysis and evidence-based guideline

artículo científico

Hereditary diffuse gastric cancer: updated clinical guidelines with an emphasis on germline CDH1 mutation carriers

artículo científico publicado en 2015

Heritable somatic methylation and inactivation of MSH2 in families with Lynch syndrome due to deletion of the 3' exons of TACSTD1.

artículo científico publicado en 2008

High Prevalence of Premalignant Lesions in Prophylactically Removed Breasts From Women at Hereditary Risk for Breast Cancer

scientific article published on 01 January 2003

High Satisfaction and Low Distress in Breast Cancer Patients One Year after BRCA-Mutation Testing without Prior Face-to-Face Genetic Counseling

artículo científico publicado en 2015

High demoralization in a minority of oophorectomized BRCA1/2 mutation carriers influences quality of life.

artículo científico publicado en 2017

High fat intake in hyperlipidaemic patients is related to male gender, smoking, alcohol intake and obesity

artículo científico publicado en 2001

High yield of pathogenic germline mutations causative or likely causative of the cancer phenotype in selected children with cancer

artículo científico publicado en 2018

Higher cytoplasmic and nuclear poly(ADP-ribose) polymerase expression in familial than in sporadic breast cancer

artículo científico publicado en 2012

Highlights from the seventh European Multidisciplinary Colorectal Cancer Congress (EMCCC) 2014.

artículo científico publicado en 2015

How medical choices influence quality of life of women carrying a BRCA mutation

artículo científico

Identification of Novel Candidate Genes for Early-Onset Colorectal Cancer Susceptibility

artículo científico publicado en 2016

Identification of candidate predisposing copy number variants in familial and early-onset colorectal cancer patients

artículo científico publicado en 2011

Identification of germline mutations in the cancer predisposing gene CDH1 in patients with orofacial clefts.

artículo científico publicado en 2012

Immunohistochemistry is not an accurate first step towards the molecular diagnosis of MUTYH-associated polyposis

artículo científico publicado en 2008

Immunotherapy holds the key to cancer treatment and prevention in constitutional mismatch repair deficiency (CMMRD) syndrome

artículo científico publicado en 2017

Impact of BRCA1/2 testing and disclosure of a positive test result on women affected and unaffected with breast or ovarian cancer

artículo científico publicado en 2004

Improvement of endometrial biopsy over transvaginal ultrasound alone for endometrial surveillance in women with Lynch syndrome

artículo científico publicado en 2009

Improving calculation, interpretation and communication of familial colorectal cancer risk: protocol for a randomized controlled trial

artículo científico publicado en 2010

Improving recognition and referral of patients with an increased familial risk of colorectal cancer: results from a randomized controlled trial

artículo científico publicado en 2015

In Lynch syndrome adenomas, loss of mismatch repair proteins is related to an enhanced lymphocytic response

artículo científico publicado en 2009

Incidence of cancer in first-degree relatives of basal cell carcinoma patients.

artículo científico publicado en 2008

Increasing awareness and knowledge of lifestyle recommendations for cancer prevention in Lynch syndrome carriers: Randomized controlled trial.

artículo científico publicado en 2017

Influence of Risk Category and Screening Round on the Performance of an MR Imaging and Mammography Screening Program in Carriers of the BRCA Mutation and Other Women at Increased Risk

artículo científico publicado en 2017

Is early-onset microsatellite and chromosomally stable colorectal cancer a hallmark of a genetic susceptibility syndrome?

artículo científico publicado en 2008

Lifestyle Risk Factors for Breast Cancer in BRCA1/2-Mutation Carriers Around Childbearing Age.

artículo científico publicado en 2016

Low prevalence of serrated polyposis syndrome in screening populations: a systematic review

artículo científico

Lynch syndrome caused by germline PMS2 mutations: delineating the cancer risk

artículo científico publicado en 2014

Lynch syndrome-associated extracolonic tumors are rare in two extended families with the same EPCAM deletion

artículo científico publicado en 2011

Mapping of constitutional translocation breakpoints in renal cell cancer patients: identification of KCNIP4 as a candidate gene

artículo científico publicado en 2007

Monocytes from patients with combined hypercholesterolemia-hypertriglyceridemia and isolated hypercholesterolemia show an increased adhesion to endothelial cells in vitro: II. Influence of intrinsic and extrinsic factors on monocyte binding

scientific article published on 01 March 1995

More breast cancer patients prefer BRCA-mutation testing without prior face-to-face genetic counseling

artículo científico publicado en 2014

More differences between HNPCC-related and sporadic carcinomas from the endometrium as compared to the colon

artículo científico publicado en 2004

Most patients with colorectal tumors at young age do not visit a cancer genetics clinic

artículo científico publicado en 2008

NTHL1 and MUTYH polyposis syndromes: two sides of the same coin?

artículo científico publicado en 2017

NTHL1 defines novel cancer syndrome

artículo científico publicado en 2015

Noonan syndrome, the SOS1 gene and embryonal rhabdomyosarcoma

artículo científico publicado en 2010

Novel BRCA1 and BRCA2 Tumor Test as Basis for Treatment Decisions and Referral for Genetic Counselling of Patients with Ovarian Carcinomas

artículo científico publicado en 2016

Numerous high-risk epithelial lesions in familial breast cancer

article

Online self-test identifies women at high familial breast cancer risk in population-based breast cancer screening without inducing anxiety or distress.

artículo científico publicado en 2017

Opportunities for immunotherapy in microsatellite instable colorectal cancer

artículo científico publicado en 2016

Optimal selection for BRCA1 and BRCA2 mutation testing using a combination of 'easy to apply' probability models

artículo científico publicado en 2006

Optimizing the detection of hereditary non-polyposis colorectal cancer: an update.

artículo científico publicado en 2006

Outcomes of screening gastroscopy in first-degree relatives of patients fulfilling hereditary diffuse gastric cancer criteria

artículo científico publicado en 2017

Ovarian cancer susceptibility alleles and risk of ovarian cancer in BRCA1 and BRCA2 mutation carriers

artículo científico publicado en 2012

PTEN Hamartoma Tumor Syndrome and Immune Dysregulation

Patient experiences with gene panels based on exome sequencing in clinical diagnostics: high acceptance and low distress

artículo científico publicado en 2014

Patients with an unexplained microsatellite instable tumour have a low risk of familial cancer

artículo científico publicado en 2007

Patients with combined hypercholesterolemia-hypertriglyceridemia show an increased monocyte-endothelial cell adhesion in vitro: triglyceride level as a major determinant

artículo científico publicado en 1991

Peer support and additional information in group medical consultations (GMCs) for BRCA1/2 mutation carriers: A randomized controlled trial

artículo científico publicado en 2015

Peritoneal carcinomatosis after risk-reducing surgery in BRCA1/2 mutation carriers.

artículo científico publicado en 2018

Phenotypic expression of double heterozygosity for BRCA1 and BRCA2 germline mutations.

artículo científico publicado en 2005

Physical activity and the risk of breast cancer in BRCA1/2 mutation carriers

artículo científico publicado en 2009

Poor prognosis of constitutive γ-H2AX expressing triple-negative breast cancers is associated with telomere length.

artículo científico publicado en 2015

Prediction of BRCA1-association in hereditary non-BRCA1/2 breast carcinomas with array-CGH

artículo científico publicado en 2008

Predisposition to colorectal cancer: exploiting copy number variation to identify novel predisposing genes and mechanisms

artículo científico publicado en 2008

Prevalence of germline mutations in the spindle assembly checkpoint gene BUB1B in individuals with early-onset colorectal cancer

artículo científico publicado en 2016

Prospective Dutch colorectal cancer cohort: an infrastructure for long-term observational, prognostic, predictive and (randomized) intervention research.

artículo científico

Psychological distress in newly diagnosed colorectal cancer patients following microsatellite instability testing for Lynch syndrome on the pathologist's initiative

artículo científico publicado en 2012

Psychosocial impact of Von Hippel-Lindau disease: levels and sources of distress

artículo científico publicado en 2010

Randomised trial of a decision aid and its timing for women being tested for a BRCA1/2 mutation.

artículo científico publicado en 2004

Randomized trial of a shared decision-making intervention consisting of trade-offs and individualized treatment information for BRCA1/2 mutation carriers

artículo científico publicado en 2004

Rare mutations in XRCC2 increase the risk of breast cancer

artículo científico publicado en 2012

Rare variants in XRCC2 as breast cancer susceptibility alleles

artículo científico publicado en 2012

Recurrence and variability of germline EPCAM deletions in Lynch syndrome.

artículo científico publicado en 2011

Recurrent candidiasis and early-onset gastric cancer in a patient with a genetically defined partial MYD88 defect

artículo científico publicado en 2015

Relevance and efficacy of breast cancer screening in BRCA1 and BRCA2 mutation carriers above 60 years: a national cohort study

artículo científico publicado en 2014

Reply: Familial ovarian screening: how to address abnormal TVU findings and its influence on the efficacy of screening?

Response to Tomao, Panici, and Tomao

scientific article published on 09 July 2019

Revertant somatic mosaicism by mitotic recombination in dyskeratosis congenita.

artículo científico publicado en 2012

Risk of colorectal and endometrial cancers in EPCAM deletion-positive Lynch syndrome: a cohort study

artículo científico publicado en 2010

Risk of urothelial bladder cancer in Lynch syndrome is increased, in particular among MSH2 mutation carriers

artículo científico publicado en 2010

Risk-reducing salpingectomy with delayed oophorectomy in BRCA1/2 mutation carriers: patients' and professionals' perspectives

artículo científico publicado en 2015

Risks of less common cancers in proven mutation carriers with lynch syndrome

artículo científico publicado en 2012

Role of germline aberrations affecting CTNNA1, MAP3K6 and MYD88 in gastric cancer susceptibility.

artículo científico publicado en 2018

Salpingectomy With Delayed Oophorectomy in BRCA1/2 Mutation Carriers: Estimating Ovarian Cancer Risk

artículo científico publicado en 2016

Self-compassion, physical fitness and climacteric symptoms in oophorectomized BRCA1/2 mutation carriers

artículo científico publicado en 2017

Sequence variant classification and reporting: recommendations for improving the interpretation of cancer susceptibility genetic test results

artículo científico publicado en 2008

Shortened time interval between colorectal cancer diagnosis and risk testing for hereditary colorectal cancer is not related to higher psychological distress

artículo científico publicado en 2011

Solve-RD: systematic pan-European data sharing and collaborative analysis to solve rare diseases

artículo científico publicado en 2021

Somatic mutations in MLH1 and MSH2 are a frequent cause of mismatch-repair deficiency in Lynch syndrome-like tumors

artículo científico publicado en 2013

Surveillance of Women with the BRCA1 or BRCA2 Mutation by Using Biannual Automated Breast US, MR Imaging, and Mammography.

artículo científico publicado en 2017

Surveillance of women at high risk for hereditary ovarian cancer is inefficient

artículo científico publicado en 2006

TP53 germline mutation testing in 180 families suspected of Li-Fraumeni syndrome: mutation detection rate and relative frequency of cancers in different familial phenotypes

artículo científico publicado en 2010

The added value of mammography in different age-groups of women with and without BRCA mutation screened with breast MRI

The additional effects of acipimox to simvastatin in the treatment of combined hyperlipidaemia

artículo científico publicado en 1998

The additional effects of acipimox to simvastatin in the treatment of combined hyperlipidaemia

scientific article published on 01 February 1997

The decision evaluation scales

scientific article published on 01 June 2005

The effect of genotypes and parent of origin on cancer risk and age of cancer development in PMS2 mutation carriers

artículo científico publicado en 2015

The effect of growth hormone administration in growth hormone deficient adults on bone, protein, carbohydrate and lipid homeostasis, as well as on body composition

artículo científico publicado en 1992

The efficacy and safety of pravastatin, compared to and in combination with bile acid binding resins, in familial hypercholesterolaemia

artículo científico publicado en 1990

The epigenetics of (hereditary) colorectal cancer

artículo científico publicado en 2010

The genetic heterogeneity of colorectal cancer predisposition - guidelines for gene discovery

artículo científico publicado en 2016

The impact of a false-positive MRI on the choice for mastectomy in BRCA mutation carriers is limited.

artículo científico publicado en 2007

The tumor suppressor gene FBXW7 is disrupted by a constitutional t(3;4)(q21;q31) in a patient with renal cell cancer.

artículo científico publicado en 2009

Transient hyperlipidemia during treatment of ALL with L-asparaginase is related to decreased lipoprotein lipase activity ⬇️

artículo científico publicado el 1 de agosto de 1997

Tumor characteristics and detection method in the MRISC screening program for the early detection of hereditary breast cancer

artículo científico publicado en 2006

Tumor characteristics as an analytic tool for classifying genetic variants of uncertain clinical significance.

artículo científico publicado en 2008

Unfavorable pathological characteristics in familial colorectal cancer with low-level microsatellite instability.

artículo científico publicado en 2006

Unraveling genetic predisposition to familial or early onset gastric cancer using germline whole-exome sequencing

artículo científico publicado en 2017

Very high uptake of risk-reducing salpingo-oophorectomy in BRCA1/2 mutation carriers: A single-center experience.

artículo científico publicado en 2016

Very low incidence of microsatellite instability in rectal cancers from families at risk for HNPCC

article

Very low prevalence of germline MSH6 mutations in hereditary non-polyposis colorectal cancer suspected patients with colorectal cancer without microsatellite instability

artículo científico publicado en 2006

Young age and a positive family history of colorectal cancer are complementary selection criteria for the identification of Lynch syndrome

artículo científico publicado en 2011

[Does ovarian cancer start in the fallopian tubes? Possible implications for preventive adnexal removal].

artículo científico publicado en 2018

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