Lista de obras - Arjen R Mensenkamp - Dominio Público Uruguay

<i>TINF2</i> is a haploinsufficient tumor suppressor that limits telomere length

artículo científico publicado en 2020

A Post-Hoc Comparison of the Utility of Sanger Sequencing and Exome Sequencing for the Diagnosis of Heterogeneous Diseases

artículo científico publicado en 2013

ATL1 and REEP1 mutations in hereditary and sporadic upper motor neuron syndromes

artículo científico publicado en 2012

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

artículo científico publicado en 2015

An evaluation of the challenges to developing tumor BRCA1 and BRCA2 testing methodologies for clinical practice

artículo científico publicado en 2017

Apolipoprotein E participates in the regulation of very low density lipoprotein-triglyceride secretion by the liver

scientific article published on 01 December 1999

Association of Genomic Domains in BRCA1 and BRCA2 with Prostate Cancer Risk and Aggressiveness

artículo científico publicado en 2019

Association of type and location of BRCA1 and BRCA2 mutations with risk of breast and ovarian cancer

artículo científico publicado en 2015

Associations of common breast cancer susceptibility alleles with risk of breast cancer subtypes in BRCA1 and BRCA2 mutation carriers

artículo científico publicado en 2014

BRCA Testing by Single-Molecule Molecular Inversion Probes

artículo científico publicado en 2016

Bias Explains Most of the Parent-of-Origin Effect on Breast Cancer Risk in BRCA1/2 Mutation Carriers

artículo científico publicado en 2016

Breast cancer risk variants at 6q25 display different phenotype associations and regulate ESR1, RMND1 and CCDC170.

artículo científico publicado en 2016

Calbindin-D28K dynamically controls TRPV5-mediated Ca2+ transport

artículo científico publicado en 2006

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

artículo científico publicado en 2017

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

Correlation between in vivo 18F-FDG PET and immunohistochemical markers of glucose uptake and metabolism in pheochromocytoma and paraganglioma

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

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

artículo científico publicado en 2015

Detection of clinically relevant copy-number variants by exome sequencing in a large cohort of genetic disorders

artículo científico publicado en 2016

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

scientific article published on 01 January 2014

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 in routine diagnostics: a generic test for 254 patients with primary immunodeficiencies.

artículo científico publicado en 2019

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

artículo científico publicado en 2019

Fine mapping of the uterine leiomyoma locus on 1q43 close to a lncRNA in the RGS7-FH interval

artículo científico publicado en 2015

Fine-Scale Mapping at 9p22.2 Identifies Candidate Causal Variants That Modify Ovarian Cancer Risk in BRCA1 and BRCA2 Mutation Carriers

artículo científico publicado en 2016

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

Functional analysis of MSH2 unclassified variants found in suspected Lynch syndrome patients reveals pathogenicity due to attenuated mismatch repair

artículo científico publicado en 2014

Functional categorization of BRCA1 variants of uncertain clinical significance in homologous recombination repair complementation assays

artículo científico publicado en 2020

Functional mechanisms underlying pleiotropic risk alleles at the 19p13.1 breast-ovarian cancer susceptibility locus

artículo científico publicado en 2016

Genotype-specific abnormalities in mitochondrial function associate with distinct profiles of energy metabolism and catecholamine content in pheochromocytoma and paraganglioma.

artículo científico publicado en 2013

Genotype-specific differences in the tumor metabolite profile of pheochromocytoma and paraganglioma using untargeted and targeted metabolomics.

artículo científico publicado en 2014

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

artículo científico publicado en 2014

Hepatic lipid accumulation, altered very low density lipoprotein formation and apolipoprotein E deposition in apolipoprotein E3-Leiden transgenic mice

articulo cientifico

Hepatic steatosis and very low density lipoprotein secretion: the involvement of apolipoprotein E ⬇️

artículo científico publicado el 1 de diciembre de 2001

Hereditary leiomyomatosis and renal cell cancer presenting as metastatic kidney cancer at 18 years of age: implications for surveillance

artículo científico publicado en 2012

Hereditary spastic paraplegia due to SPAST mutations in 151 Dutch patients: new clinical aspects and 27 novel mutations

artículo científico publicado en 2010

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

artículo científico publicado en 2018

Identification of 12 new susceptibility loci for different histotypes of epithelial ovarian cancer

artículo científico publicado en 2017

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

artículo científico publicado en 2016

Inhibition of apolipoprotein B secretion by taurocholate is controlled by the N-terminal end of the protein in rat hepatoma McArdle-RH7777 cells

artículo científico publicado en 2003

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

artículo científico publicado en 2014

MAX Mutations Cause Hereditary and Sporadic Pheochromocytoma and Paraganglioma

scientific article published on 27 March 2012

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

artículo científico publicado en 2014

Multiple independent variants at the TERT locus are associated with telomere length and risks of breast and ovarian cancer

artículo científico publicado en 2013

Mutational Spectrum in a Worldwide Study of 29,700 Families with BRCA1 or BRCA2 Mutations

artículo científico publicado en 2018

Mutations in a Sar1 GTPase of COPII vesicles are associated with lipid absorption disorders

artículo científico publicado en 2003

NRAS-mutated melanocytic BAP1-associated intradermal tumor (MBAIT): a case report.

artículo científico publicado en 2014

No clinical utility of KRAS variant rs61764370 for ovarian or breast cancer.

artículo científico publicado en 2015

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

PACSINs bind to the TRPV4 cation channel. PACSIN 3 modulates the subcellular localization of TRPV4

scientific journal article

Polygenic risk scores and breast and epithelial ovarian cancer risks for carriers of BRCA1 and BRCA2 pathogenic variants

artículo científico publicado en 2020

SNP association study in PMS2-associated Lynch syndrome.

artículo científico publicado en 2017

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

artículo científico publicado en 2013

Specifications of the ACMG/AMP variant curation guidelines for the analysis of germline CDH1 sequence variants

artículo científico publicado en 2018

Suspected Lynch syndrome associated MSH6 variants: A functional assay to determine their pathogenicity

artículo científico publicado en 2017

The BRCA1 c. 5096G>A p.Arg1699Gln (R1699Q) intermediate risk variant: breast and ovarian cancer risk estimation and recommendations for clinical management from the ENIGMA consortium

artículo científico publicado en 2017

The MLH1 c.-27C>A and c.85G>T variants are linked to dominantly inherited MLH1 epimutation and are borne on a European ancestral haplotype

artículo científico publicado en 2013

The association between cancer family history and ovarian cancer risk in BRCA1/2 mutation carriers: can it be explained by the mutation position?

artículo científico publicado en 2018

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 endoplasmic reticulum coat protein II transport machinery coordinates cellular lipid secretion and cholesterol biosynthesis

scientific article published on 13 December 2013

The role of transhepatic bile salt flux in the control of hepatic secretion of triacylglycerol-rich lipoproteins in vivo in rodents

artículo científico publicado en 2002

The transport of triglycerides through the secretory pathway of hepatocytes is impaired in apolipoprotein E deficient mice

artículo científico publicado en 2004

Translating sanger-based routine DNA diagnostics into generic massive parallel ion semiconductor sequencing

artículo científico publicado en 2014

Universal Tumor DNA BRCA1/2 Testing of Ovarian Cancer: Prescreening PARPi Treatment and Genetic Predisposition

artículo científico publicado en 2020

Uptake of prenatal diagnostic testing for retinoblastoma compared to other hereditary cancer syndromes in the Netherlands

artículo científico publicado en 2016

Variation in mutation spectrum partly explains regional differences in the breast cancer risk of female BRCA mutation carriers in the Netherlands

artículo científico publicado en 2014

Lista de obras de Arjen R Mensenkamp

<i>TINF2</i> is a haploinsufficient tumor suppressor that limits telomere length

A Post-Hoc Comparison of the Utility of Sanger Sequencing and Exome Sequencing for the Diagnosis of Heterogeneous Diseases

ATL1 and REEP1 mutations in hereditary and sporadic upper motor neuron syndromes

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

An evaluation of the challenges to developing tumor BRCA1 and BRCA2 testing methodologies for clinical practice

Apolipoprotein E participates in the regulation of very low density lipoprotein-triglyceride secretion by the liver

Association of Genomic Domains in BRCA1 and BRCA2 with Prostate Cancer Risk and Aggressiveness

Association of type and location of BRCA1 and BRCA2 mutations with risk of breast and ovarian cancer

Associations of common breast cancer susceptibility alleles with risk of breast cancer subtypes in BRCA1 and BRCA2 mutation carriers

BRCA Testing by Single-Molecule Molecular Inversion Probes

Bias Explains Most of the Parent-of-Origin Effect on Breast Cancer Risk in BRCA1/2 Mutation Carriers

Breast cancer risk variants at 6q25 display different phenotype associations and regulate ESR1, RMND1 and CCDC170.

Calbindin-D28K dynamically controls TRPV5-mediated Ca2+ transport

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

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

Correlation between in vivo 18F-FDG PET and immunohistochemical markers of glucose uptake and metabolism in pheochromocytoma and paraganglioma

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

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

Detection of clinically relevant copy-number variants by exome sequencing in a large cohort of genetic disorders

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

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

Exome sequencing in routine diagnostics: a generic test for 254 patients with primary immunodeficiencies.

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

Fine mapping of the uterine leiomyoma locus on 1q43 close to a lncRNA in the RGS7-FH interval

Fine-Scale Mapping at 9p22.2 Identifies Candidate Causal Variants That Modify Ovarian Cancer Risk in BRCA1 and BRCA2 Mutation Carriers

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

Functional analysis of MSH2 unclassified variants found in suspected Lynch syndrome patients reveals pathogenicity due to attenuated mismatch repair

Functional categorization of BRCA1 variants of uncertain clinical significance in homologous recombination repair complementation assays

Functional mechanisms underlying pleiotropic risk alleles at the 19p13.1 breast-ovarian cancer susceptibility locus

Genotype-specific abnormalities in mitochondrial function associate with distinct profiles of energy metabolism and catecholamine content in pheochromocytoma and paraganglioma.

Genotype-specific differences in the tumor metabolite profile of pheochromocytoma and paraganglioma using untargeted and targeted metabolomics.

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

Hepatic lipid accumulation, altered very low density lipoprotein formation and apolipoprotein E deposition in apolipoprotein E3-Leiden transgenic mice

Hepatic steatosis and very low density lipoprotein secretion: the involvement of apolipoprotein E ⬇️

Hereditary leiomyomatosis and renal cell cancer presenting as metastatic kidney cancer at 18 years of age: implications for surveillance

Hereditary spastic paraplegia due to SPAST mutations in 151 Dutch patients: new clinical aspects and 27 novel mutations

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

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

Identification of 12 new susceptibility loci for different histotypes of epithelial ovarian cancer

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

Inhibition of apolipoprotein B secretion by taurocholate is controlled by the N-terminal end of the protein in rat hepatoma McArdle-RH7777 cells

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

MAX Mutations Cause Hereditary and Sporadic Pheochromocytoma and Paraganglioma

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

Multiple independent variants at the TERT locus are associated with telomere length and risks of breast and ovarian cancer

Mutational Spectrum in a Worldwide Study of 29,700 Families with BRCA1 or BRCA2 Mutations

Mutations in a Sar1 GTPase of COPII vesicles are associated with lipid absorption disorders

NRAS-mutated melanocytic BAP1-associated intradermal tumor (MBAIT): a case report.

No clinical utility of KRAS variant rs61764370 for ovarian or breast cancer.

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

PACSINs bind to the TRPV4 cation channel. PACSIN 3 modulates the subcellular localization of TRPV4

Polygenic risk scores and breast and epithelial ovarian cancer risks for carriers of BRCA1 and BRCA2 pathogenic variants

SNP association study in PMS2-associated Lynch syndrome.

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

Specifications of the ACMG/AMP variant curation guidelines for the analysis of germline CDH1 sequence variants

Suspected Lynch syndrome associated MSH6 variants: A functional assay to determine their pathogenicity

The BRCA1 c. 5096G>A p.Arg1699Gln (R1699Q) intermediate risk variant: breast and ovarian cancer risk estimation and recommendations for clinical management from the ENIGMA consortium

The MLH1 c.-27C>A and c.85G>T variants are linked to dominantly inherited MLH1 epimutation and are borne on a European ancestral haplotype

The association between cancer family history and ovarian cancer risk in BRCA1/2 mutation carriers: can it be explained by the mutation position?

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

The endoplasmic reticulum coat protein II transport machinery coordinates cellular lipid secretion and cholesterol biosynthesis

The role of transhepatic bile salt flux in the control of hepatic secretion of triacylglycerol-rich lipoproteins in vivo in rodents

The transport of triglycerides through the secretory pathway of hepatocytes is impaired in apolipoprotein E deficient mice

Translating sanger-based routine DNA diagnostics into generic massive parallel ion semiconductor sequencing

Universal Tumor DNA BRCA1/2 Testing of Ovarian Cancer: Prescreening PARPi Treatment and Genetic Predisposition

Uptake of prenatal diagnostic testing for retinoblastoma compared to other hereditary cancer syndromes in the Netherlands

Variation in mutation spectrum partly explains regional differences in the breast cancer risk of female BRCA mutation carriers in the Netherlands