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Lista de obras de Rolf H Sijmons

46,XY,dup(10q) in direct CVS preparation and mosaic 48,XXXY,dup(10q) in CVS long-term culture and fetal tissue.

artículo científico publicado en 1995

A database to support the interpretation of human mismatch repair gene variants

artículo científico publicado en 2008

A functional assay-based procedure to classify mismatch repair gene variants in Lynch syndrome

artículo científico publicado en 2018

A multicentre comparative prospective blinded analysis of EUS and MRI for screening of pancreatic cancer in high-risk individuals

artículo científico publicado en 2015

A new coding system for metabolic disorders demonstrates gaps in the international disease classifications ICD-10 and SNOMED-CT, which can be barriers to genotype-phenotype data sharing

artículo científico publicado en 2013

A prospective study of the impact of genetic susceptibility testing for BRCA1/2 or HNPCC on family relationships

artículo científico publicado en 2007

A role for MLH3 in hereditary nonpolyposis colorectal cancer

artículo científico publicado en 2001

Absence of constitutional Y chromosome AZF deletions in patients with testicular germ cell tumors.

artículo científico publicado en 2005

Acceptable age for prophylactic surgery in children with multiple endocrine neoplasia type 2a.

artículo científico publicado en 2003

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

artículo científico publicado en 2015

Accuracy of family history of cancer: clinical genetic implications

article published in 2000

Adrenocortical adenocarcinoma in an MSH2 carrier: Coincidence or causal relation?

artículo científico publicado en 2000

Application of a 5-tiered scheme for standardized classification of 2,360 unique mismatch repair gene variants in the InSiGHT locus-specific database

artículo científico publicado en 2013

Association of hereditary nonpolyposis colorectal cancer-related tumors displaying low microsatellite instability with MSH6 germline mutations.

artículo científico publicado en 1999

Attitude towards pre-implantation genetic diagnosis for hereditary cancer.

artículo científico publicado en 2009

BRAF-V600E is not involved in the colorectal tumorigenesis of HNPCC in patients with functional MLH1 and MSH2 genes

article

BRCA1 and BRCA2 heterozygosity and repair of X-ray-induced DNA damage

artículo científico publicado en 2002

Biochemical characterization of MLH3 missense mutations does not reveal an apparent role of MLH3 in Lynch syndrome

artículo científico publicado en 2009

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

artículo científico publicado en 2011

Calibration of multiple in silico tools for predicting pathogenicity of mismatch repair gene missense substitutions

artículo científico publicado en 2012

Cancer Predisposition Genes in Cancer-Free Families

artículo científico publicado en 2020

Cancer incidence and survival in Lynch syndrome patients receiving colonoscopic and gynaecological surveillance: first report from the prospective Lynch syndrome database

artículo científico publicado en 2015

Cancer risk and survival in path_MMR carriers by gene and gender up to 75 years of age: a report from the Prospective Lynch Syndrome Database

artículo científico publicado en 2017

Cancer risks by gene, age, and gender in 6350 carriers of pathogenic mismatch repair variants: findings from the Prospective Lynch Syndrome Database

scientific article published on 24 July 2019

Capturing all disease-causing mutations for clinical and research use: toward an effortless system for the Human Variome Project

artículo científico publicado en 2009

Cell-free assay breakthrough for MLH1 variants.

artículo científico publicado en 2010

Characteristics of Lynch syndrome associated ovarian cancer

artículo científico publicado en 2018

Charles Buys (1942-2014).

artículo científico publicado en 2014

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

artículo científico publicado en 2008

Clinical Definition of Hereditary Non-polyposis Colorectal Cancer: A Search for the Impossible?

Clinical Findings with Implications for Genetic Testing in Families with Clustering of Colorectal Cancer

article by Juul T. Wijnen et al published 20 August 1998 in The New England Journal of Medicine

Clinical and genetic aspects of testicular germ cell tumours

artículo científico publicado en 2008

Clinical definition of hereditary non-polyposis colorectal cancer: a search for the impossible?

artículo científico publicado en 2001

Clinical vignette: early-onset head and neck cancer: beware of fanconi anaemia!

artículo científico publicado en 2004

CoNVaDING: Single Exon Variation Detection in Targeted NGS Data

artículo científico publicado en 2016

Colorectal cancer and theCHEK2 1100delC mutation

article

Colorectal cancer incidence in path_MLH1 carriers subjected to different follow-up protocols: a Prospective Lynch Syndrome Database report

artículo científico publicado en 2017

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

Comparison of individuals opting for BRCA1/2 or HNPCC genetic susceptibility testing with regard to coping, illness perceptions, illness experiences, family system characteristics and hereditary cancer distress

Congenital knee dislocation in a 49,XXXXY boy

artículo científico publicado en 1995

Contribution of bi-allelic germline MUTYH mutations to early-onset and familial colorectal cancer and to low number of adenomatous polyps: case-series and literature review.

artículo científico publicado en 2013

Correction: Cancer risks by gene, age, and gender in 6350 carriers of pathogenic mismatch repair variants: findings from the Prospective Lynch Syndrome Database

artículo científico publicado en 2020

Cost effectiveness of a new strategy to identify HNPCC patients

artículo científico publicado en 2005

Deciphering the colon cancer genes--report of the InSiGHT-Human Variome Project Workshop, UNESCO, Paris 2010.

artículo científico publicado en 2011

Design and Feasibility of an Intervention to Support Cancer Genetic Counselees in Informing their At-Risk Relatives

artículo científico publicado en 2016

Development of the Informing Relatives Inventory (IRI): Assessing Index Patients' Knowledge, Motivation and Self-Efficacy Regarding the Disclosure of Hereditary Cancer Risk Information to Relatives

artículo científico publicado en 2014

Diagnostic interpretation of array data using public databases and internet sources

artículo científico publicado en 2012

Distinct patterns of KRAS mutations in colorectal carcinomas according to germline mismatch repair defects and hMLH1 methylation status

artículo científico publicado en 2004

Distress in partners of individuals diagnosed with or at high risk of developing tumors due to rare hereditary cancer syndromes

artículo científico publicado en 2011

Do GPs know their patients with cancer? Assessing the quality of cancer registration in Dutch primary care: a cross-sectional validation study

artículo científico publicado en 2016

Do microsatellite instability profiles really differ between colorectal and endometrial tumors?

artículo científico publicado en 2009

Encyclopaedia of tumour-associated familial disorders. Part I: from AIMAH to CHIME syndrome

artículo científico publicado en 2008

Evaluation of CADD Scores in Curated Mismatch Repair Gene Variants Yields a Model for Clinical Validation and Prioritization

artículo científico publicado en 2015

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

Experience of parental cancer in childhood is a risk factor for psychological distress during genetic cancer susceptibility testing

artículo científico publicado en 2006

Familial and hereditary non-polyposis colorectal cancer: issues relevant for surgical practice

artículo científico publicado en 1998

Familial cancer database: a clinical aide-mémoire

artículo científico publicado en 2001

Familial cervical cancer: case reports, review and clinical implications.

artículo científico publicado en 2004

Familial endometrial cancer in female carriers of MSH6 germline mutations

artículo científico publicado en 1999

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

artículo científico publicado el 1 de septiembre de 2012

Familial multiple myeloma: report on two families and discussion of screening options

artículo científico publicado en 2007

Familial testicular cancer in a single-centre population

artículo científico publicado en 1999

Families with BAP1-Tumor Predisposition Syndrome in The Netherlands: Path to Identification and a Proposal for Genetic Screening Guidelines

artículo científico publicado en 2019

Family system characteristics and psychological adjustment to cancer susceptibility genetic testing: a prospective study

artículo científico publicado en 2007

Fanconi anaemia presenting as acute myeloid leukaemia and myelodysplastic syndrome in adulthood: a family report on co-occurring FANCC and CHEK2 mutations

scientific article published on 16 May 2018

First report of a de novo germline mutation in the MLH1 gene

artículo científico publicado en 2006

Frequency of Von Hippel-Lindau germline mutations in classic and non-classic Von Hippel-Lindau disease identified by DNA sequencing, Southern blot analysis and multiplex ligation-dependent probe amplification

article

Functional Studies on Primary Tubular Epithelial Cells Indicate a Tumor Suppressor Role of SETD2 in Clear Cell Renal Cell Carcinoma

scientific article published on 26 May 2016

Functional analysis helps to clarify the clinical importance of unclassified variants in DNA mismatch repair genes

artículo científico publicado en 2007

GAVIN - Gene-Aware Variant INterpretation for medical sequencing

article

GAVIN: Gene-Aware Variant INterpretation for medical sequencing

artículo científico publicado en 2017

Gene variants of unknown clinical significance in Lynch syndrome. An introduction for clinicians.

artículo científico publicado en 2013

Genetic Screening Test to Detect Translocations in Acute Leukemias by Use of Targeted Locus Amplification

artículo científico publicado en 2018

Genetic predisposition to testicular germ-cell tumours

artículo científico publicado en 2004

Genetic testing in Li-Fraumeni syndrome: uptake and psychosocial consequences

artículo científico publicado en 2010

Genotype-phenotype correlations in families with deletions in the von Hippel-Lindau (VHL) gene

article

Geographic clustering of testicular cancer incidence in the northern part of The Netherlands.

artículo científico publicado en 1999

Germline hypermethylation of MLH1 and EPCAM deletions are a frequent cause of Lynch syndrome

artículo científico publicado en 2009

Germline mutations in the PTEN/MMAC1 gene in patients with Cowden disease.

artículo científico publicado en 1997

Germline mutations of EXO1 gene in patients with hereditary nonpolyposis colorectal cancer (HNPCC) and atypical HNPCC forms

artículo científico publicado en 2001

Getting rid of the PMS2 pseudogenes: mission impossible?

artículo científico publicado en 2007

Hereditary Cancer in Clinical Practice transfers to BioMed Central.

artículo científico publicado en 2009

Hereditary non-polyposis colorectal cancer: identification of mutation carriers and assessing pathogenicity of mutations

artículo científico publicado en 2004

High frequency of RPL22 mutations in microsatellite-unstable colorectal and endometrial tumors.

artículo científico

How to support cancer genetics counselees in informing at-risk relatives? Lessons from a randomized controlled trial

article

Identification of mismatch repair gene mutations in young patients with colorectal cancer and in patients with multiple tumours associated with hereditary non-polyposis colorectal cancer.

artículo científico publicado en 2006

Impact of Drug-Gene-Interaction, Drug-Drug-Interaction, and Drug-Drug-Gene-Interaction on (es)Citalopram Therapy: The PharmLines Initiative

scientific article published on 28 November 2020

InSiGHT leads in the implementation of the Human Variome Project

artículo científico publicado en 2011

Incidence of and survival after subsequent cancers in carriers of pathogenic MMR variants with previous cancer: a report from the prospective Lynch syndrome database

artículo científico publicado en 2016

Inclusion of malignant fibrous histiocytoma in the tumour spectrum associated with hereditary non-polyposis colorectal cancer

article

Locus-specific databases and recommendations to strengthen their contribution to the classification of variants in cancer susceptibility genes

artículo científico publicado en 2008

Low-penetrance genes and their involvement in colorectal cancer susceptibility.

artículo científico publicado en 2002

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

artículo científico publicado en 2014

MLH1 and MSH2 protein expression as a pre-screening marker in hereditary and non-hereditary endometrial hyperplasia and cancer

article

MUTYH and the mismatch repair system: partners in crime?

artículo científico publicado en 2006

Malignant peritoneal mesothelioma in a patient with Li-Fraumeni syndrome.

artículo científico publicado en 2011

Management of extracolonic tumours in patients with Lynch syndrome

artículo científico publicado en 2009

Medullary Thyroid Cancer in a Patient with Hirschsprung Disease with a C609Y Germline RET-mutation

artículo científico publicado en 2005

Molecular and clinical characteristics of MSH6 variants: an analysis of 25 index carriers of a germline variant

artículo científico publicado en 2002

Mononucleotide precedes dinucleotide repeat instability during colorectal tumour development in Lynch syndrome patients

artículo científico publicado en 2009

Multiplicity in polyp count and extracolonic manifestations in 40 Dutch patients with MYH associated polyposis coli (MAP).

artículo científico publicado en 2005

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

scientific article published on 01 February 2019

NIPTeR: an R package for fast and accurate trisomy prediction in non-invasive prenatal testing

scholarly article by Lennart F Johansson published in December 2018

New target genes in endometrial tumors show a role for the estrogen-receptor pathway in microsatellite-unstable cancers.

artículo científico publicado en 2014

Next-Gen Databasing Links Mutations with Prognosis and Clinical Outcome

No Difference in Penetrance between Truncating and Missense/Aberrant Splicing Pathogenic Variants in and : A Prospective Lynch Syndrome Database Study

artículo científico publicado en 2021

No association between the Arg201Gly polymorphism of the DCC gene and colorectal cancer

article

No association between two MLH3 variants (S845G and P844L)and colorectal cancer risk.

artículo científico publicado en 2004

Oncological implications of RET gene mutations in Hirschsprung's disease

artículo científico publicado en 1998

Overview of the mutation spectrum in familial exudative vitreoretinopathy and Norrie disease with identification of 21 novel variants in FZD4, LRP5, and NDP.

artículo científico publicado en 2010

PMS2 involvement in patients suspected of Lynch syndrome.

artículo científico publicado en 2009

Paediatric intestinal cancer and polyposis due to bi-allelic PMS2 mutations: case series, review and follow-up guidelines.

artículo científico publicado en 2011

Piebaldism in a mentally retarded girl with rare deletion of the long arm of chromosome 4.

artículo científico publicado en 1993

Planning the human variome project: the Spain report.

artículo científico publicado en 2009

Practical Barriers and Facilitators Experienced by Patients, Pharmacists and Physicians to the Implementation of Pharmacogenomic Screening in Dutch Outpatient Hospital Care-An Explorative Pilot Study

artículo científico publicado en 2020

Prenatal diagnosis in a family with X-linked chronic granulomatous disease with the use of the polymerase chain reaction

scientific article published on 01 September 1992

Prenatal diagnosis in two cases ofde novo complex balanced chromosomal rearrangements. Three-year follow-up in one case

scientific article published on 01 May 1995

Prevalence and Progression of Pancreatic Cystic Precursor Lesions Differ Between Groups at High Risk of Developing Pancreatic Cancer

artículo científico publicado en 2016

Prognostic factors for hereditary cancer distress six months after BRCA1/2 or HNPCC genetic susceptibility testing

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

artículo científico publicado en 2010

RET Mutation Screening in Familial Cutaneous Lichen Amyloidosis and in Skin Amyloidosis Associated With Multiple Endocrine Neoplasia

article

Rapidly progressive adenomatous polyposis in a patient with germline mutations in both the APC and MLH1 genes: the worst of two worlds.

artículo científico publicado en 2003

Re-analysis of the Xq27–Xq28 region suggests a weak association of an X-linked gene with sporadic testicular germ cell tumour without cryptorchidism

article

Regular surveillance for Li-Fraumeni Syndrome: advice, adherence and perceived benefits

artículo científico publicado en 2010

Reusability of coded data in the primary care electronic medical record: A dynamic cohort study concerning cancer diagnoses.

artículo científico publicado en 2016

Review: Clinical aspects of hereditary DNA Mismatch repair gene mutations

artículo científico publicado en 2015

Revised guidelines for the clinical management of Lynch syndrome (HNPCC): recommendations by a group of European experts

artículo científico publicado en 2013

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

artículo científico publicado en 2010

Risk-Reducing Gynecological Surgery in Lynch Syndrome: Results of an International Survey from the Prospective Lynch Syndrome Database

scientific article published on 18 July 2020

Risk-reducing hysterectomy and bilateral salpingo-oophorectomy in female heterozygotes of pathogenic mismatch repair variants: a Prospective Lynch Syndrome Database report

artículo científico publicado en 2020

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

Routine testing for PALB2 mutations in familial pancreatic cancer families and breast cancer families with pancreatic cancer is not indicated

artículo científico publicado en 2011

SORTA: a system for ontology-based re-coding and technical annotation of biomedical phenotype data

artículo científico publicado en 2015

Screening for germline DND1 mutations in testicular cancer patients

artículo científico publicado en 2010

Sharing data between LSDBs and central repositories

artículo científico publicado en 2009

Syndromic aspects of testicular carcinoma.

artículo científico publicado en 2003

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

Targeted next-generation sequencing can replace Sanger sequencing in clinical diagnostics

artículo científico publicado en 2013

Testicular carcinoma and HLA Class II genes

article

Tetrasomy 5p mosaicism in a boy with delayed growth, hypotonia, minor anomalies, and an additional isochromosome 5p [46,XY/47,XY, + i(5p)]

artículo científico publicado en 1993

Thank you to all our manuscript reviewers in 2014.

artículo científico publicado en 2015

Thank you to all our manuscript reviewers in 2015.

artículo científico publicado en 2016

The Human Leukocyte Antigen Region and Colorectal Cancer Risk

article

The InSiGHT database: utilizing 100 years of insights into Lynch syndrome.

artículo científico publicado en 2013

The additional value of endometrial sampling in the early detection of endometrial cancer in women with Lynch syndrome

artículo científico publicado en 2013

The common sense model of self-regulation and psychological adjustment to predictive genetic testing: a prospective study

article

The electronic mood device: design, construction, and application

artículo científico publicado en 2000

The introduction of a choice to learn pre-symptomatic DNA test results for BRCA or Lynch syndrome either face-to-face or by letter.

artículo científico publicado en 2011

The use of arrays to detect copy-number variations in clinical practice

artículo científico publicado en 2012

Thyroid cancer in a patient with a germline MSH2 mutation. Case report and review of the Lynch syndrome expanding tumour spectrum

scientific article published on 15 February 2008

Toward new strategies to select young endometrial cancer patients for mismatch repair gene mutation analysis.

artículo científico publicado en 2003

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

artículo científico publicado en 2017

Uptake of hysterectomy and bilateral salpingo-oophorectomy in carriers of pathogenic mismatch repair variants: a Prospective Lynch Syndrome Database report

artículo científico publicado en 2021

Urinary tract cancer and hereditary nonpolyposis colorectal cancer: risks and screening options

artículo científico publicado en 1998

[Familial gastric cancer: diagnosis, treatment and periodic surveillance].

artículo científico publicado en 2011

[More hereditary intestinal cancer can be detected if patients with colorectal carcinoma that are selected by the pathologist are examined for microsatellite instability]

artículo científico publicado en 2005

[The chance of breast carcinoma and related carcinomas in a positive family anamnesis. Landelijke Werkgroep Erfelijk Mammacarcinoom van de Stichting Opsporing Erfelijke Tumoren]

artículo científico publicado en 1995

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