Lista de obras -

A novel keratin 13 variant in a four-generation family with white sponge nevus

artículo científico publicado en 2017

A unique case of two somatic APC mutations in an early onset cribriform-morular variant of papillary thyroid carcinoma and overview of the literature

artículo científico publicado en 2020

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

artículo científico publicado en 2015

Age and Tumor Volume Predict Growth of Carotid and Vagal Body Paragangliomas.

artículo científico publicado en 2017

CDC73-Related Disorders: Clinical Manifestations and Case Detection in Primary Hyperparathyroidism.

artículo científico publicado en 2017

CM-Score: a validated scoring system to predict CDKN2A germline mutations in melanoma families from Northern Europe

artículo científico publicado en 2018

Cancer Risks for PMS2-Associated Lynch Syndrome

artículo científico publicado en 2018

Characterization of endolymphatic sac tumors and von Hippel-Lindau disease in the International Endolymphatic Sac Tumor Registry.

artículo científico publicado en 2015

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

artículo científico publicado en 2008

Clinical Aspects of SDHA-Related Pheochromocytoma and Paraganglioma: A Nationwide Study.

artículo científico publicado en 2017

Clinical and Molecular Characteristics May Alter Treatment Strategies of Thyroid Malignancies in DICER1 Syndrome

scientific article published on 01 February 2019

Clinical management of Von Hippelâ Lindau (VHL) disease ⬇️

artículo científico publicado el 1 de noviembre de 2001

Clinical progression and metachronous paragangliomas in a large cohort of SDHD germline variant carriers

artículo científico publicado en 2018

Clinical utility gene card for: MUTYH-associated polyposis (MAP), autosomal recessive colorectal adenomatous polyposis, multiple colorectal adenomas, multiple adenomatous polyps (MAP) - update 2012

artículo científico publicado en 2012

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

Colorectal carcinomas in MUTYH-associated polyposis display histopathological similarities to microsatellite unstable carcinomas

artículo científico publicado en 2009

Combined mismatch repair and POLE/POLD1 defects explain unresolved suspected Lynch syndrome cancers

artículo científico publicado en 2016

Comprehensive Mutation Analysis of PMS2 in a Large Cohort of Probands Suspected of Lynch Syndrome or Constitutional Mismatch Repair Deficiency Syndrome.

artículo científico publicado en 2016

Declining detection rates for APC and biallelic MUTYH variants in polyposis patients, implications for DNA testing policy

scientific article published on 16 September 2019

Distinct Patterns of Somatic Mosaicism in the APC Gene in Neoplasms From Patients With Unexplained Adenomatous Polyposis.

artículo científico publicado en 2016

Enrichment of low penetrance susceptibility loci in a Dutch familial colorectal cancer cohort

artículo científico publicado en 2009

Estimating the penetrance of pathogenic gene variants in families with missing pedigree information

scientific article published on 03 August 2018

Evidence for genetic association between chromosome 1q loci and predisposition to colorectal neoplasia

artículo científico publicado en 2017

Evidence for genetic association between chromosome 1q loci and predisposition to colorectal neoplasia.

artículo científico publicado en 2017

Excluding Lynch syndrome in a female patient with metachronous DNA mismatch repair deficient colon- and ovarian cancer.

artículo científico publicado en 2017

Germline variants in POLE are associated with early onset mismatch repair deficient colorectal cancer

artículo científico publicado en 2014

High Growth Rate of Pancreatic Ductal Adenocarcinoma inCDKN2A-p16-LeidenMutation Carriers

scientific article published on 10 July 2018

High prevalence of occult paragangliomas in asymptomatic carriers of SDHD and SDHB gene mutations ⬇️

artículo científico publicado el 5 de septiembre de 2012

High-resolution melting (HRM) re-analysis of a polyposis patients cohort reveals previously undetected heterozygous and mosaic APC gene mutations.

artículo científico publicado en 2015

Identification of patients with (atypical) MUTYH-associated polyposis by KRAS2 c.34G > T prescreening followed by MUTYH hotspot analysis in formalin-fixed paraffin-embedded tissue.

artículo científico publicado en 2008

Increased Mortality in but Not in Pathogenic Variant Carriers

artículo científico publicado en 2019

Infiltration of Lynch Colorectal Cancers by Activated Immune Cells Associates with Early Staging of the Primary Tumor and Absence of Lymph Node Metastases

artículo científico publicado en 2012

Insertion of an SVA element, a nonautonomous retrotransposon, inPMS2intron 7 as a novel cause of lynch syndrome ⬇️

artículo científico publicado el 30 de abril de 2012

Low frequency of POLD1 and POLE exonuclease domain variants in patients with multiple colorectal polyps

artículo científico publicado en 2019

Low penetrance of a SDHB mutation in a large Dutch paraganglioma family

artículo científico publicado en 2010

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

artículo científico publicado en 2014

Mathematical Models for Tumor Growth and the Reduction of Overtreatment

scientific article published on 23 July 2018

Measurement of head and neck paragangliomas: is volumetric analysis worth the effort? A method comparison study.

artículo científico publicado en 2015

Molecular Background of Colorectal Tumors From Patients With Lynch Syndrome Associated With Germline Variants in PMS2

scientific article published on 29 July 2018

Molecular genetic aspects of Von Hippelâ Lindau (VHL) disease and criteria for DNA analysis in subjects at risk ⬇️

artículo científico publicado el 1 de noviembre de 2001

Multi-gene panel sequencing of established and candidate melanoma susceptibility genes in a large cohort of Dutch non-CDKN2A/CDK4 melanoma families

article

Mutational Signature Analysis Reveals NTHL1 Deficiency to Cause a Multi-tumor Phenotype

scientific article published on 01 February 2019

Nationwide study of patients with head and neck paragangliomas carrying SDHB germline mutations

artículo científico publicado en 2018

No difference in phenotype of the main Dutch SDHD founder mutations ⬇️

artículo científico publicado el 11 de mayo de 2013

No evidence for increased mortality in SDHD variant carriers compared with the general population.

artículo científico publicado en 2015

Normal Life Expectancy for Paraganglioma Patients: A 50-Year-Old Cohort Revisited ⬇️

artículo científico publicado el 1 de noviembre de 2011

Pancreatic cancer-associated gene polymorphisms in a nation-wide cohort of p16-Leiden germline mutation carriers; a case-control study

artículo científico publicado en 2015

Parent-of-origin tumourigenesis is mediated by an essential imprinted modifier in SDHD-linked paragangliomas: SLC22A18 and CDKN1C are candidate tumour modifiers

artículo científico publicado en 2016

Quality of life is decreased in patients with paragangliomas ⬇️

artículo científico publicado el 15 de abril de 2013

RNA analysis of cancer predisposing genes in formalin-fixed paraffin-embedded tissue determines aberrant splicing

artículo científico publicado en 2018

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

Succinate Dehydrogenase (SDH)-Deficient Pancreatic Neuroendocrine Tumor Expands the SDH-Related Tumor Spectrum.

artículo científico publicado en 2015

Surveillance for familial melanoma: recommendations from a national centre of expertise

artículo científico publicado en 2019

Surveillance of Second-Degree Relatives from Melanoma Families with a CDKN2A Germline Mutation

artículo científico publicado en 2013

Targetable gene fusions identified in radioactive iodine refractory advanced thyroid carcinoma

artículo científico publicado en 2019

The Penetrance of Paraganglioma and Pheochromocytoma in SDHB germline mutation carriers

artículo científico publicado en 2017

The complexity of screening PMS2 in DNA isolated from formalin-fixed paraffin-embedded material

scientific article published on 15 October 2019

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 eye in von Hippel–Lindau disease. Long‐term follow‐up of screening and treatment: recommendations ⬇️

artículo científico publicado el 1 de junio de 1998

The phenotype of SDHB germline mutation carriers: a nationwide study

artículo científico publicado en 2017

Variant type is associated with disease characteristics in SDHB, SDHC and SDHD-linked phaeochromocytoma-paraganglioma

scientific article published on 06 September 2019

Whole Gene Capture Analysis of 15 CRC Susceptibility Genes in Suspected Lynch Syndrome Patients.

artículo científico publicado en 2016

Lista de obras de

A novel keratin 13 variant in a four-generation family with white sponge nevus

A unique case of two somatic APC mutations in an early onset cribriform-morular variant of papillary thyroid carcinoma and overview of the literature

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

Age and Tumor Volume Predict Growth of Carotid and Vagal Body Paragangliomas.

CDC73-Related Disorders: Clinical Manifestations and Case Detection in Primary Hyperparathyroidism.

CM-Score: a validated scoring system to predict CDKN2A germline mutations in melanoma families from Northern Europe

Cancer Risks for PMS2-Associated Lynch Syndrome

Characterization of endolymphatic sac tumors and von Hippel-Lindau disease in the International Endolymphatic Sac Tumor Registry.

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

Clinical Aspects of SDHA-Related Pheochromocytoma and Paraganglioma: A Nationwide Study.

Clinical and Molecular Characteristics May Alter Treatment Strategies of Thyroid Malignancies in DICER1 Syndrome

Clinical management of Von Hippelâ Lindau (VHL) disease ⬇️

Clinical progression and metachronous paragangliomas in a large cohort of SDHD germline variant carriers

Clinical utility gene card for: MUTYH-associated polyposis (MAP), autosomal recessive colorectal adenomatous polyposis, multiple colorectal adenomas, multiple adenomatous polyps (MAP) - update 2012

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

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

Colorectal carcinomas in MUTYH-associated polyposis display histopathological similarities to microsatellite unstable carcinomas

Combined mismatch repair and POLE/POLD1 defects explain unresolved suspected Lynch syndrome cancers

Comprehensive Mutation Analysis of PMS2 in a Large Cohort of Probands Suspected of Lynch Syndrome or Constitutional Mismatch Repair Deficiency Syndrome.

Declining detection rates for APC and biallelic MUTYH variants in polyposis patients, implications for DNA testing policy

Distinct Patterns of Somatic Mosaicism in the APC Gene in Neoplasms From Patients With Unexplained Adenomatous Polyposis.

Enrichment of low penetrance susceptibility loci in a Dutch familial colorectal cancer cohort

Estimating the penetrance of pathogenic gene variants in families with missing pedigree information

Evidence for genetic association between chromosome 1q loci and predisposition to colorectal neoplasia

Evidence for genetic association between chromosome 1q loci and predisposition to colorectal neoplasia.

Excluding Lynch syndrome in a female patient with metachronous DNA mismatch repair deficient colon- and ovarian cancer.

Germline variants in POLE are associated with early onset mismatch repair deficient colorectal cancer

High Growth Rate of Pancreatic Ductal Adenocarcinoma inCDKN2A-p16-LeidenMutation Carriers

High prevalence of occult paragangliomas in asymptomatic carriers of SDHD and SDHB gene mutations ⬇️

High-resolution melting (HRM) re-analysis of a polyposis patients cohort reveals previously undetected heterozygous and mosaic APC gene mutations.

Identification of patients with (atypical) MUTYH-associated polyposis by KRAS2 c.34G > T prescreening followed by MUTYH hotspot analysis in formalin-fixed paraffin-embedded tissue.

Increased Mortality in but Not in Pathogenic Variant Carriers

Infiltration of Lynch Colorectal Cancers by Activated Immune Cells Associates with Early Staging of the Primary Tumor and Absence of Lymph Node Metastases

Insertion of an SVA element, a nonautonomous retrotransposon, inPMS2intron 7 as a novel cause of lynch syndrome ⬇️

Low frequency of POLD1 and POLE exonuclease domain variants in patients with multiple colorectal polyps

Low penetrance of a SDHB mutation in a large Dutch paraganglioma family

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

Mathematical Models for Tumor Growth and the Reduction of Overtreatment

Measurement of head and neck paragangliomas: is volumetric analysis worth the effort? A method comparison study.

Molecular Background of Colorectal Tumors From Patients With Lynch Syndrome Associated With Germline Variants in PMS2

Molecular genetic aspects of Von Hippelâ Lindau (VHL) disease and criteria for DNA analysis in subjects at risk ⬇️

Multi-gene panel sequencing of established and candidate melanoma susceptibility genes in a large cohort of Dutch non-CDKN2A/CDK4 melanoma families

Mutational Signature Analysis Reveals NTHL1 Deficiency to Cause a Multi-tumor Phenotype

Nationwide study of patients with head and neck paragangliomas carrying SDHB germline mutations

No difference in phenotype of the main Dutch SDHD founder mutations ⬇️

No evidence for increased mortality in SDHD variant carriers compared with the general population.

Normal Life Expectancy for Paraganglioma Patients: A 50-Year-Old Cohort Revisited ⬇️

Pancreatic cancer-associated gene polymorphisms in a nation-wide cohort of p16-Leiden germline mutation carriers; a case-control study

Parent-of-origin tumourigenesis is mediated by an essential imprinted modifier in SDHD-linked paragangliomas: SLC22A18 and CDKN1C are candidate tumour modifiers

Quality of life is decreased in patients with paragangliomas ⬇️

RNA analysis of cancer predisposing genes in formalin-fixed paraffin-embedded tissue determines aberrant splicing

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

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

Succinate Dehydrogenase (SDH)-Deficient Pancreatic Neuroendocrine Tumor Expands the SDH-Related Tumor Spectrum.

Surveillance for familial melanoma: recommendations from a national centre of expertise

Surveillance of Second-Degree Relatives from Melanoma Families with a CDKN2A Germline Mutation

Targetable gene fusions identified in radioactive iodine refractory advanced thyroid carcinoma

The Penetrance of Paraganglioma and Pheochromocytoma in SDHB germline mutation carriers

The complexity of screening PMS2 in DNA isolated from formalin-fixed paraffin-embedded material

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

The eye in von Hippel–Lindau disease. Long‐term follow‐up of screening and treatment: recommendations ⬇️

The phenotype of SDHB germline mutation carriers: a nationwide study

Variant type is associated with disease characteristics in SDHB, SDHC and SDHD-linked phaeochromocytoma-paraganglioma

Whole Gene Capture Analysis of 15 CRC Susceptibility Genes in Suspected Lynch Syndrome Patients.