Advanced Search
Display options
Filter resources
Text Availability
Article type
Publication date
Species
Language
Sex
Age
Showing 1 to 12 of 16 entries
Sorted by: Best Match Show Resources per page
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...

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:...

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...

Reduced Vitamin K Status as a Potentially Modifiable Risk Factor of Severe Coronavirus Disease 2019.

Clinical infectious diseases : an official publication of the Infectious Diseases Society of America

Dofferhoff ASM, Piscaer I, Schurgers LJ, Visser MPJ, van den Ouweland JMW, de Jong PA, Gosens R, Hackeng TM, van Daal H, Lux P, Maassen C, Karssemeijer EGA, Vermeer C, Wouters EFM, Kistemaker LEM, Walk J, Janssen R.
PMID: 32852539
Clin Infect Dis. 2021 Dec 06;73(11):e4039-e4046. doi: 10.1093/cid/ciaa1258.

BACKGROUND: Respiratory failure and thromboembolism are frequent in severe acute respiratory syndrome coronavirus 2-infected patients. Vitamin K activates both hepatic coagulation factors and extrahepatic endothelial anticoagulant protein S, required for thrombosis prevention. In times of vitamin K insufficiency, hepatic...

Maternal vitamin D levels during pregnancy and neonatal health: evidence to date and clinical implications.

Therapeutic advances in musculoskeletal disease

Karras SN, Fakhoury H, Muscogiuri G, Grant WB, van den Ouweland JM, Colao AM, Kotsa K.
PMID: 27493691
Ther Adv Musculoskelet Dis. 2016 Aug;8(4):124-35. doi: 10.1177/1759720X16656810. Epub 2016 Jul 13.

Low maternal vitamin D levels during pregnancy have been associated with a plethora of adverse neonatal outcomes, including small for gestational age and preterm births, detrimental effect on offspring bone and teeth development, and risk of infectious diseases. Although...

Showing 1 to 12 of 16 entries