Search Results - "Bikker, H"

Large next-generation sequencing gene panels in genetic heart disease: yield of pathogenic variants and variants of unknown significance by van Lint, F. H. M., Mook, O. R. F., Alders, M., Bikker, H., Lekanne dit Deprez, R. H., Christiaans, I.

“…Background Genetic heterogeneity is common in inherited cardiac diseases. Next-generation sequencing gene panels are therefore suitable for genetic diagnosis…”
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Non-sustained ventricular tachycardias, conduction disorders and an impaired left ventricular ejection fraction in a 32-year-old woman by Alsters, S., Polyukhovych, Y., Bikker, H., Wong, L., Houweling, A. C.

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Large next-generation sequencing gene panels in genetic heart disease: challenges in clinical practice by Christiaans, I., Mook, O. R. F., Alders, M., Bikker, H., Lekanne dit Deprez, R. H.

“…Background Next-generation sequencing gene panels are increasingly used for genetic diagnosis in inherited cardiac diseases. Besides pathogenic variants,…”
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Congenital methaemoglobinaemia in a 61-year-old patient with normal haemoglobin levels by de Geus, K F, Anas, A A, Franssen, R, Duijkers, F A M, Bikker, H, Linthorst, G E

“…A 61-year-old Ghanaian woman presented with dizziness and low oxygen saturations whereupon a methaemoglobin level of 24.9% was obtained. Initially it was…”
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Fatal neonatal hypertrophic cardiomyopathy caused by compound heterozygous truncating MYBPC3 mutation by Alsters, S., Wong, L., Peferoen, L., Niessen, H. W. M., Bikker, H., Elting, M. W., Houweling, A. C.

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Low HDL cholesterol levels in type I Gaucher disease do not lead to an increased risk of cardiovascular disease by de Fost, M, Langeveld, M, Franssen, R, Hutten, B.A, Groener, J.E.M, de Groot, E, Mannens, M.M, Bikker, H, Aerts, J.M.F.G, Kastelein, J.J.P, Hollak, C.E.M

“…Abstract Objective A low plasma high-density lipoprotein cholesterol (HDL-c) concentration is an important risk factor for the development of atherosclerotic…”
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Recurrent and founder mutations in the Netherlands: Plakophilin-2 p.Arg79X mutation causing arrhythmogenic right ventricular cardiomyopathy/dysplasia by van der Zwaag, P.A., Cox, M.G.P.J., van der Werf, C., Wiesfeld, A.C.P., Jongbloed, J.D.H., Dooijes, D., Bikker, H., Jongbloed, R., Suurmeijer, A.J.H., van den Berg, M.P., Hofstra, R.M.W., Hauer, R.N.W., Wilde, A.A.M., van Tintelen, J.P.

“…Background . Arrhythmogenic right ventricular cardiomyopathy/dysplasia (ARVC/D) is an inherited cardiac disease with reduced penetrance and a highly variable…”
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A homozygous nonsense mutation in the methylmalonyl-CoA epimerase gene (MCEE) results in mild methylmalonic aciduria by Bikker, H., Bakker, H.D., Abeling, N.G.G.M., Poll-The, B.T., Kleijer, W.J., Rosenblatt, D.S., Waterham, H.R., Wanders, R.J.A., Duran, M.

“…Methylmalonic aciduria (MMA‐uria) is an autosomal recessive inborn error of amino acid metabolism, involving valine, threonine, isoleucine, and methionine…”
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Haplotype sharing test maps genes for familial cardiomyopathies by van der Zwaag, PA, van Tintelen, JP, Gerbens, F, Jongbloed, JDH, Boven, LG, van der Smagt, JJ, van der Roest, WP, van Langen, IM, Bikker, H, Hauer, RNW, van den Berg, MP, Hofstra, RMW, te Meerman, GJ

“…van der Zwaag PA, van Tintelen JP, Gerbens F, Jongbloed JDH, Boven LG, van der Smagt JJ, van der Roest WP, van Langen IM, Bikker H, Hauer RNW, van den Berg MP,…”
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Molecular analysis of mutated thyroid peroxidase detected in patients with total iodide organification defects by BIKKER, H, BAAS, F, DE VIJLDER, J. J. M

“…Wild-type and mutant thyroid peroxidase (TPO) was expressed in a Semliki Forest Virus (SFV)-based transient expression system in Chinese hamster ovary-K1…”
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Congenital hypothyroidism caused by a premature termination signal in exon 10 of the human thyroid peroxidase gene by BIKKER, H, WAELKENS, J. J. J, BRAVENBOER, B, DE VIJLDER, J. J. M

“…The molecular basis of a total iodide organification defect causing severe congenital hypothyroidism has been elucidated. The defect occurred in a family in…”
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A 20-basepair duplication in the human thyroid peroxidase gene results in a total iodide organification defect and congenital hypothyroidism by Bikker, H, den Hartog, M T, Baas, F, Gons, M H, Vulsma, T, de Vijlder, J J

“…In this study we present the molecular basis of a total iodide organification defect causing severe congenital hypothyroidism. In the thyroid gland of the…”
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Recurrent variant of unknown significance in KCNH2 classified through functional characterisation by Copier, JS, Bootsma, M, Wilde, AAM, Bertels, RA, Bikker, H, Christiaans, I, Koopmann, TT, Lommerse, AAJ, Bezzina, CR, Verkerk, AO, Barge-Schaapveld, DQCM, Lodder, EM

“…Abstract Funding Acknowledgements Type of funding sources: Public grant(s) – National budget only. Main funding source(s): The Dutch Research Council (NWO…”
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Computer-guided system for design of factories by Tong, J, Van Luttervelt, Ca, Wedman, Fw, Bikker, H

“…To stay competitive at the start of the 21st century, manufacturing companies are in great need of support for designing/redesigning their production systems…”
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Yield of the RYR2 Genetic Test in Suspected Catecholaminergic Polymorphic Ventricular Tachycardia and Implications for Test Interpretation by Kapplinger, Jamie D, Pundi, Krishna N, Larson, Nicholas B, Callis, Thomas E, Tester, David J, Bikker, Hennie, Wilde, Arthur A M, Ackerman, Michael J

“…Pathogenic variants account for ≈60% of clinically definite cases of catecholaminergic polymorphic ventricular tachycardia. However, the rate of rare benign…”
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44-year-old woman with elevated liver enzymes and a family history for cholelithiasis by Hopf, C, Beuers, U, Bikker, H, Denk, G U, Rust, C

“…"Low phospholipid associated cholelithiasis" (LPAC) syndrome is an important differential diagnosis in younger patients with biliary symptoms after…”
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Inactivating Mutations in the Gene for Thyroid Oxidase 2 (THOX2) and Congenital Hypothyroidism by Moreno, José C, Bikker, Hennie, Kempers, Marlies J.E, van Trotsenburg, A.S. Paul, Baas, Frank, de Vijlder, Jan J.M, Vulsma, Thomas, Ris-Stalpers, C

“…Untreated congenital hypothyroidism leads to severe developmental difficulties. The authors of this report sought to identify defects in the thyroid oxidase…”
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The human thyroglobulin gene: a polymorphic marker localized distal to C-MYC on chromosome 8 band q24 by BAAS, F, BIKKER, H, GEURTS VAN KESSEL, A, MELSERT, R, PEARSON, P. L, DE VIJLDER, J. J. M, VAN OMMEN, G.-J. B

“…The human thyroglobulin (Tg) gene is localized to chromosome 8 and regionally to band q24 as shown independently by both in situ hybridization techniques and…”
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Two decades of screening for congenital hypothyroidism in the Netherlands : TPO gene mutations in total iodide organification defects (an update) by BAKKER, Bert, BIKKER, Hennie, VULSMA, Thomas, DE RANDAMIE, Janine S. E, WIEDIJK, Brenda M, DE VIJLDER, Jan J. M

“…Presented is a cohort study to assess the nature and frequency of thyroid peroxidase (TPO) mutations in 45 patients (35 families) with congenital…”
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Xmnl RFLP at 5q13 detected by a 0.49 kb Xmn I fragment of human hexosaminidase (HEXB) cDNA by Bikker, H., Meyer, M.F., Merk, A.C., de Vijider, J.J.M., Bolhuis, P.A.

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