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Showing 1 to 12 of 21 entries
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Families with BAP1-Tumor Predisposition Syndrome in The Netherlands: Path to Identification and a Proposal for Genetic Screening Guidelines.

Cancers

Chau C, van Doorn R, van Poppelen NM, van der Stoep N, Mensenkamp AR, Sijmons RH, van Paassen BW, van den Ouweland AMW, Naus NC, van der Hout AH, Potjer TP, Bleeker FE, Wevers MR, van Hest LP, Jongmans MCJ, Marinkovic M, Bleeker JC, Jager MJ, Luyten GPM, Nielsen M.
PMID: 31382694
Cancers (Basel). 2019 Aug 04;11(8). doi: 10.3390/cancers11081114.

Germline pathogenic variants in the BRCA1-associated protein-1 (

Retinal haemangioblastomas in von Hippel-Lindau germline mutation carriers: progression, complications and treatment outcome.

Acta ophthalmologica

Hajjaj A, van Overdam KA, Oldenburg RA, Koopmans AE, van den Ouweland AMW, de Klein A, Kiliç E.
PMID: 32003155
Acta Ophthalmol. 2020 Jan 30; doi: 10.1111/aos.14360. Epub 2020 Jan 30.

PURPOSE: Evaluation of phenotype and treatment outcome of retinal haemangioblastomas (RH) in von Hippel-Lindau (VHL) disease and correlation of these features with the genotype of VHL germline mutation carriers.METHODS: Retrospective analysis of a longitudinal cohort of 21 VHL germline...

Interlaboratory comparison of 25-hydroxyvitamin D assays: Vitamin D Standardization Program (VDSP) Intercomparison Study 2 - Part 1 liquid chromatography - tandem mass spectrometry (LC-MS/MS) assays - impact of 3-epi-25-hydroxyvitamin D.

Analytical and bioanalytical chemistry

Wise SA, Camara JE, Burdette CQ, Hahm G, Nalin F, Kuszak AJ, Merkel J, Durazo-Arvizu RA, Williams EL, Hoofnagle AN, Ivison F, Fischer R, van den Ouweland JMW, Ho CS, Law EWK, Simard JN, Gonthier R, Holmquist B, Meadows S, Cox L, Robyak K, Creer MH, Fitzgerald R, Clarke MW, Breen N, Lukas P, Cavalier É, Sempos CT.
PMID: 34432104
Anal Bioanal Chem. 2022 Jan;414(1):333-349. doi: 10.1007/s00216-021-03576-1. Epub 2021 Aug 25.

An interlaboratory comparison study was conducted by the Vitamin D Standardization Program (VDSP) to assess the performance of liquid chromatography - tandem mass spectrometry (LC-MS/MS) assays used for the determination of serum total 25-hydroxyvitamin D (25(OH)D), which is the...

Vitamin D related genetic polymorphisms affect serological response to high-dose vitamin D supplementation in multiple sclerosis.

PloS one

Mimpen M, Rolf L, Poelmans G, van den Ouweland J, Hupperts R, Damoiseaux J, Smolders J.
PMID: 34855907
PLoS One. 2021 Dec 02;16(12):e0261097. doi: 10.1371/journal.pone.0261097. eCollection 2021.

INTRODUCTION: A poor 25-hydroxyvitamin D (25(OH)D) status is a much replicated risk factor for developing multiple sclerosis (MS), and several vitamin D-associated single nucleotide polymorphisms (SNPs) have been associated with a higher risk of MS. However, studies on the...

Variant type and position predict two distinct limb phenotypes in patients with GLI3-mediated polydactyly syndromes.

Journal of medical genetics

Baas M, Burger EB, van den Ouweland AM, Hovius SE, de Klein A, van Nieuwenhoven CA, Galjaard RJH.
PMID: 32591344
J Med Genet. 2021 Jun;58(6):362-368. doi: 10.1136/jmedgenet-2020-106948. Epub 2020 Jun 26.

INTRODUCTION: Pathogenic DNA variants in the GLI-Kruppel family member 3 (METHODS: Both local and published cases were included for analysis. The presence of individual limb phenotypes was dichotomised and an exploratory LCA was performed. Distribution of phenotypes and genotypes...

Low Vitamin K Status Is Associated with Increased Elastin Degradation in Chronic Obstructive Pulmonary Disease.

Journal of clinical medicine

Piscaer I, van den Ouweland JMW, Vermeersch K, Reynaert NL, Franssen FME, Keene S, Wouters EFM, Janssens W, Vermeer C, Janssen R.
PMID: 31357639
J Clin Med. 2019 Jul 27;8(8). doi: 10.3390/jcm8081116.

Elastin degradation is accelerated in chronic obstructive pulmonary disease (COPD) and is partially regulated by Matrix Gla Protein (MGP), via a vitamin K-dependent pathway. The aim was to assess vitamin K status in COPD as well as associations between...

The new Roche Vitamin D Total assay: fit for its purpose?.

Clinical chemistry and laboratory medicine

Emmen JM, Wielders JP, Boer AK, van den Ouweland JM, Vader HL.
PMID: 22752789
Clin Chem Lab Med. 2012 Jun 08;1-4. doi: 10.1515/cclm-2012-0085.

Abstract Background: Measurement of serum 25-hydroxyvitamin D [25(OH)D] is used to assess vitamin D status. We evaluated the analytical performance of a new automated assay, Elecsys Vitamin D Total (Roche Diagnostics, Mannheim, Germany), based on competitive protein binding. Methods:...

Sufficient 25-Hydroxyvitamin D Levels 2 Years after Colorectal Cancer Diagnosis are Associated with a Lower Risk of All-cause Mortality.

Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology

Wesselink E, Kok DE, de Wilt JHW, Bours MJL, van Zutphen M, Keulen ETP, Kruyt FM, Breukink SO, Kouwenhoven EA, van den Ouweland J, Weijenberg MP, Kampman E, van Duijnhoven FJB.
PMID: 33531437
Cancer Epidemiol Biomarkers Prev. 2021 Apr;30(4):765-773. doi: 10.1158/1055-9965.EPI-20-1388. Epub 2021 Feb 02.

BACKGROUND: Whether changes in 25 hydroxy vitamin DMETHODS: In total, 679 patients were included in our data analyses. Trajectories of 25(OH)DRESULTS: During a follow-up time of 2.2 years for recurrence and 3.5 years for all-cause mortality, 31 and 65...

Interlaboratory comparison of 25-hydroxyvitamin D assays: Vitamin D Standardization Program (VDSP) Intercomparison Study 2 - Part 1 liquid chromatography - tandem mass spectrometry (LC-MS/MS) assays - impact of 3-epi-25-hydroxyvitamin D.

Analytical and bioanalytical chemistry

Wise SA, Camara JE, Burdette CQ, Hahm G, Nalin F, Kuszak AJ, Merkel J, Durazo-Arvizu RA, Williams EL, Hoofnagle AN, Ivison F, Fischer R, van den Ouweland JMW, Ho CS, Law EWK, Simard JN, Gonthier R, Holmquist B, Meadows S, Cox L, Robyak K, Creer MH, Fitzgerald R, Clarke MW, Breen N, Lukas P, Cavalier É, Sempos CT.
PMID: 34432104
Anal Bioanal Chem. 2021 Aug 25; doi: 10.1007/s00216-021-03576-1. Epub 2021 Aug 25.

An interlaboratory comparison study was conducted by the Vitamin D Standardization Program (VDSP) to assess the performance of liquid chromatography - tandem mass spectrometry (LC-MS/MS) assays used for the determination of serum total 25-hydroxyvitamin D (25(OH)D), which is the...

Assessment of serum total 25-hydroxyvitamin D assays for Vitamin D External Quality Assessment Scheme (DEQAS) materials distributed at ambient and frozen conditions.

Analytical and bioanalytical chemistry

Sempos CT, Williams EL, Carter GD, Jones J, Camara JE, Burdette CQ, Hahm G, Nalin F, Duewer DL, Kuszak AJ, Merkel J, Hoofnagle AN, Lukas P, Cavalier É, Durazo-Arvizu RA, Crump PM, Popp C, Beckert C, Schultess J, Van Slooten G, Tourneur C, Pease C, Kaul R, Villarreal A, Ivison F, Fischer R, van den Ouweland JMW, Ho CS, Law EWK, Simard JN, Gonthier R, Holmquist B, Batista MC, Meadows S, Cox L, Jansen E, Khan DA, Robyak K, Creer MH, Kilbane M, Twomey PJ, Freeman J, Parker N, Yuan J, Fitzgerald R, Mushtaq S, Clarke MW, Breen N, Simpson C, Wise SA.
PMID: 34750644
Anal Bioanal Chem. 2021 Nov 09; doi: 10.1007/s00216-021-03742-5. Epub 2021 Nov 09.

The Vitamin D External Quality Assessment Scheme (DEQAS) distributes human serum samples four times per year to over 1000 participants worldwide for the determination of total serum 25-hydroxyvitamin D [25(OH)D)]. These samples are stored at -40 °C prior to...

ERJ open research

Janssen R, Serré J, Piscaer I, Zaal R, van Daal H, Mathyssen C, Zanen P, van den Ouweland JMW, Janssens W.
PMID: 33043047
ERJ Open Res. 2020 Oct 05;6(4). doi: 10.1183/23120541.00128-2019. eCollection 2020 Oct.

BACKGROUND: Vitamin D supplementation lowers exacerbation frequency in severe vitamin D-deficient patients with COPD. Data regarding the effect of vitamin D on elastin degradation are lacking. Based on the vitamin's anti-inflammatory properties, we hypothesised that vitamin D supplementation reduces...

Interlaboratory comparison of 25-hydroxyvitamin D assays: Vitamin D Standardization Program (VDSP) Intercomparison Study 2 - Part 1 liquid chromatography - tandem mass spectrometry (LC-MS/MS) assays - impact of 3-epi-25-hydroxyvitamin D.

Analytical and bioanalytical chemistry

Wise SA, Camara JE, Burdette CQ, Hahm G, Nalin F, Kuszak AJ, Merkel J, Durazo-Arvizu RA, Williams EL, Hoofnagle AN, Ivison F, Fischer R, van den Ouweland JMW, Ho CS, Law EWK, Simard JN, Gonthier R, Holmquist B, Meadows S, Cox L, Robyak K, Creer MH, Fitzgerald R, Clarke MW, Breen N, Lukas P, Cavalier É, Sempos CT.
PMID: 34432104
Anal Bioanal Chem. 2022 Jan;414(1):333-349. doi: 10.1007/s00216-021-03576-1. Epub 2021 Aug 25.

An interlaboratory comparison study was conducted by the Vitamin D Standardization Program (VDSP) to assess the performance of liquid chromatography - tandem mass spectrometry (LC-MS/MS) assays used for the determination of serum total 25-hydroxyvitamin D (25(OH)D), which is the...

Showing 1 to 12 of 21 entries