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Bianca van den Bosch

Drs.

20052019
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Research Output 2005 2019

2019

Evolution of Dihydropyrimidine Dehydrogenase Diagnostic Testing in a Single Center during an 8-Year Period of Time

Coenen, M. J. H., Paulussen, A. D. C., Breuer, M., Lindhout, M., Tserpelis, D. C. J., Steyls, A., Bierau, J. & van den Bosch, B. J. C., 2019, In : Current Therapeutic Research-Clinical and Experimental. 90, p. 1-7 7 p.

Research output: Contribution to journalArticleAcademicpeer-review

Open Access

Metabolic events in HIV-infected patients using abacavir are associated with erythrocyte inosine triphosphatase activity

Peltenburg, N. C., Bierau, J., Schippers, J. A., Lowe, S. H., Paulussen, A. D. C., van den Bosch, B. J. C., Leers, M. P. G., Andrinopoulou, E-R., Bakker, J. A. & Verbon, A., Jan 2019, In : Journal of Antimicrobial Chemotherapy. 74, 1, p. 157-164 8 p.

Research output: Contribution to journalArticleAcademicpeer-review

2018

Erythrocyte Inosine triphosphatase activity: A potential biomarker for adverse events during combination antiretroviral therapy for HIV

Peltenburg, N. C., Bierau, J., Bakker, J. A., Schippers, J. A., Lowe, S. H., Paulussen, A. D. C., van den Bosch, B. J. C., Leers, M. P. G., Hansen, B. E. & Verbon, A., 12 Jan 2018, In : PLOS ONE. 13, 1, 14 p., e0191069.

Research output: Contribution to journalArticleAcademicpeer-review

Open Access

Genetic defects in mtDNA-encoded protein translation cause pediatric, mitochondrial cardiomyopathy with early-onset brain disease

Kamps, R., Szklarczyk, R., Theunissen, T. E., Hellebrekers, D. M. E. I., Sallevelt, S. C. E. H., Boesten, I. B., de Koning, B., van den Bosch, B. J., Salomons, G. S., Simas-Mendes, M., Verdijk, R., Schoonderwoerd, K., de Coo, I. F. M., Vanoevelen, J. M. & Smeets, H. J. M., 1 Apr 2018, In : European Journal of Human Genetics. 26, 4, p. 537-551 15 p.

Research output: Contribution to journalArticleAcademicpeer-review

2017
Open Access

Rapid Resolution of Blended or Composite Multigenic Disease in Infants by Whole-Exome Sequencing

Theunissen, T. E. J., Sallevelt, S. C. E. H., Hellebrekers, D. M. E. I., de Koning, B., Hendrickx, A. T. M., van den Bosch, B. J. C., Kamps, R., Schoonderwoerd, K., Szklarczyk, R., Hartog, E. N. M. M-D., de Coo, I. F. M. & Smeets, H. J. M., Mar 2017, In : The Journal of Pediatrics. 182, p. 371-374 4 p.

Research output: Contribution to journalArticleAcademicpeer-review

2016
2 Citations (Scopus)

Differences in Strength and Timing of the mtDNA Bottleneck between Zebrafish Germline and Non-germline Cells

Otten, A. B. C., Theunissen, T. E. J., Derhaag, J. G., Lambrichs, E. H., Boesten, I. B. W., Winandy, M., van Montfoort, A. P. A., Tarbashevich, K., Raz, E., Gerards, M., Vanoevelen, J. M., van den Bosch, B. J. C., Muller, M. & Smeets, H. J. M., 19 Jul 2016, In : Cell Reports. 16, 3, p. 622-630 9 p.

Research output: Contribution to journalArticleAcademicpeer-review

Open Access

Inosine Triphosphate Pyrophosphohydrolase Expression: Decreased in Leukocytes of HIV-Infected Patients Using Combination Antiretroviral Therapy

Peltenburg, N. C., Leers, M. P. G., Bakker, J. A., Lowe, S. H., Vroemen, W. H. M., Paulussen, A. D. C., van den Bosch, B. J. C., Bierau, J. & Verbon, A., 1 Dec 2016, In : Jaids-journal of Acquired Immune Deficiency Syndromes. 73, 4, p. 390-395 6 p.

Research output: Contribution to journalArticleAcademicpeer-review

2015

Two Novel Mutations in the SLC25A4 Gene in a Patient with Mitochondrial Myopathy.

Körver-Keularts, I. M. L. W., de Visser, M., Bakker, H. D., Wanders, R. J. A., Vansenne, F., Scholte, H. R., Dorland, L., Nicolaes, G. A. F., Spaapen, L. M. J., Smeets, H. J. M., Hendrickx, A. T. M. & van den Bosch, B. J. C., 2015, In : JIMD reports. 22, p. 39-45 7 p.

Research output: Contribution to journalArticleAcademicpeer-review

2013
32 Citations (Scopus)

Exome sequencing reveals a novel Moroccan founder mutation in SLC19A3 as a new cause of early-childhood fatal Leigh syndrome

Gerards, M., Kamps, R., van Oevelen, J., Boesten, I., Jongen, E., de Koning, B., Scholte, H. R., de Angst, I., Schoonderwoerd, K., Sefiani, A., Ratbi, I., Coppieters, W., Karim, L., de Coo, R., van den Bosch, B. & Smeets, H., Mar 2013, In : Brain. 136, Pt 3, p. 882-90 9 p.

Research output: Contribution to journalArticleAcademicpeer-review

2012
17 Citations (Scopus)

Defective NDUFA9 as a novel cause of neonatally fatal complex I disease

van den Bosch, B. J. C., Gerards, M., Sluiter, W., Stegmann, A. P. A., Jongen, E. L. C., Hellebrekers, D. M. E. I., Oegema, R., Lambrichs, E. H., Prokisch, H., Danhauser, K., Schoonderwoerd, K., de Coo, I. F. M. & Smeets, H. J. M., Jan 2012, In : Journal of Medical Genetics. 49, 1, p. 10-5 6 p.

Research output: Contribution to journalArticleAcademicpeer-review

What is influencing the phenotype of the common homozygous polymerase-gamma mutation p.Ala467Thr?

Neeve, V. C. M., Samuels, D. C., Bindoff, L. A., van den Bosch, B., Van Goethem, G., Smeets, H., Lombes, A., Jardel, C., Hirano, M., DiMauro, S., de Vries, M. C., Smeitink, J., Smits, B. W., de Coo, I. F. M., Saft, C., Klopstock, T., Keiling, B-C., Czermin, B., Abicht, A., Lochmueller, H. & 7 others, Hudson, G., Gorman, G. G., Turnbull, D. M., Taylor, R. W., Holinski-Feder, E., Chinnery, P. F. & Horvath, R., Dec 2012, In : Brain. 135, 12, p. 3614-3626

Research output: Contribution to journalArticleAcademicpeer-review

2011

Large scale mtDNA sequencing reveals sequence and functional conservation as major determinants of homoplasmic mtDNA variant distribution

Voets, A. M., van den Bosch, B. J. C., Stassen, A. P., Hendrickx, A. T., Hellebrekers, D. M., Van Laer, L., Van Eyken, E., Camp, P. G., Pyle, A., Baudouin, S. V., Chinnery, P. F. & Smeets, H. J. M., Nov 2011, In : Mitochondrion. 11, 6, p. 964-972

Research output: Contribution to journalArticleAcademicpeer-review

67 Citations (Scopus)

Riboflavin-responsive oxidative phosphorylation complex I deficiency caused by defective ACAD9: new function for an old gene

Gerards, M., van den Bosch, B. J. C., Danhauser, K., Serre, V., van Weeghel, M., Wanders, R. J. A., Nicolaes, G. A. F., Sluiter, W., Schoonderwoerd, K., Scholte, H. R., Prokisch, H., Rötig, A., de Coo, I. F. M. & Smeets, H. J. M., Jan 2011, In : Brain. 134, Pt 1, p. 210-219 10 p.

Research output: Contribution to journalArticleAcademicpeer-review

2010
33 Citations (Scopus)

Defective complex I assembly due to C20orf7 mutations as a new cause of Leigh syndrome

Gerards, M., Sluiter, W., van den Bosch, B. J. C., de Wit, L. E. A., Calis, C. M. H., Frentzen, M., Akbari, H., Schoonderwoerd, K., Scholte, H. R., Jongbloed, R. J., Hendrickx, A. T. M., de Coo, I. F. M. & Smeets, H. J. M., Aug 2010, In : Journal of Medical Genetics. 47, 8, p. 507-12 6 p.

Research output: Contribution to journalArticleAcademicpeer-review

34 Citations (Scopus)

Nonsense mutations in CABC1/ADCK3 cause progressive cerebellar ataxia and atrophy

Gerards, M., van den Bosch, B., Calis, C., Schoonderwoerd, K., van Engelen, K., Tijssen, M., de Coo, R., van der Kooi, A. & Smeets, H., Aug 2010, In : Mitochondrion. 10, 5, p. 510-5 6 p.

Research output: Contribution to journalArticleAcademicpeer-review

2008
9 Citations (Scopus)

Altered myocardial gene expression reveals possible maladaptive processes in heterozygous and homozygous cardiac myosin-binding protein C knockout mice.

Eijssen, L. M. T., van den Bosch, B. J. C., Vignier, N., Lindsey, P. J., van den Burg, C. M. M., Carrier, L., Doevendans, P. A. F. M., van der Vusse, G. J. & Smeets, H. J., 1 Jan 2008, In : Genomics. 91, 1, p. 52-60

Research output: Contribution to journalArticleAcademicpeer-review

2006
29 Citations (Scopus)

Early and transient gene expression changes in pressure overload-induced cardiac hypertrophy in mice

van den Bosch, B. J., Lindsey, P. J., van den Burg, C. M., van Vlies, S. A., Lips, DJ., van der Vusse, G. J., Ayoubi, T. A. Y., Doevendans, P. A. F. M. & Smeets, H. J. M., 1 Jan 2006, In : Genomics. 88, 4, p. 480-8

Research output: Contribution to journalArticleAcademicpeer-review

2005
200 Downloads (Pure)
Open Access
File
36 Citations (Scopus)

Regional absence of mitochondria causing energy depletion in the myocardium of muscle LIM protein knockout mice

van den Bosch, B. J., van den Burg, C. M. M., Schoonderwoerd, K., Lindsey, P. J., Scholte, H. R., de Coo, R. F., van Rooij, E., Rockman, H. A., Doevendans, P. A. F. M. & Smeets, H. J., 1 Jan 2005, In : Cardiovascular Research. 65, 2, p. 411-418

Research output: Contribution to journalArticleAcademicpeer-review