Mannens MM - Search Results

1

Glucocerebrosidase genotype of Gaucher patients in The Netherlands: limitations in prognostic value.

Boot RG, Hollak CE, Verhoek M, Sloof P, Poorthuis BJ, Kleijer WJ, Wevers RA, van Oers MH, Mannens MM, Aerts JM, van Weely S. Boot RG, et al. Among authors: mannens mm. Hum Mutat. 1997;10(5):348-58. doi: 10.1002/(SICI)1098-1004(1997)10:5<348::AID-HUMU3>3.0.CO;2-B. Hum Mutat. 1997. PMID: 9375849

2

The human chitotriosidase gene. Nature of inherited enzyme deficiency.

Boot RG, Renkema GH, Verhoek M, Strijland A, Bliek J, de Meulemeester TM, Mannens MM, Aerts JM. Boot RG, et al. Among authors: mannens mm. J Biol Chem. 1998 Oct 2;273(40):25680-5. doi: 10.1074/jbc.273.40.25680. J Biol Chem. 1998. PMID: 9748235 Free article.

3

A case of methemoglobinemia type II due to NADH-cytochrome b5 reductase deficiency: determination of the molecular basis.

Aalfs CM, Salieb-Beugelaar GB, Wanders RJ, Mannens MM, Wijburg FA. Aalfs CM, et al. Among authors: mannens mm. Hum Mutat. 2000;16(1):18-22. doi: 10.1002/1098-1004(200007)16:1<18::AID-HUMU4>3.0.CO;2-N. Hum Mutat. 2000. PMID: 10874300

4

Low HDL cholesterol levels in type I Gaucher disease do not lead to an increased risk of cardiovascular disease.

de Fost M, Langeveld M, Franssen R, Hutten BA, Groener JE, de Groot E, Mannens MM, Bikker H, Aerts JM, Kastelein JJ, Hollak CE. de Fost M, et al. Among authors: mannens mm. Atherosclerosis. 2009 May;204(1):267-72. doi: 10.1016/j.atherosclerosis.2008.08.027. Epub 2008 Sep 2. Atherosclerosis. 2009. PMID: 18842264

5

Molecular nature of genetic changes resulting in loss of heterozygosity of chromosome 11 in Wilms' tumours.

Mannens M, Slater RM, Heyting C, Bliek J, de Kraker J, Coad N, de Pagter-Holthuizen P, Pearson PL. Mannens M, et al. Hum Genet. 1988 Dec;81(1):41-8. doi: 10.1007/BF00283727. Hum Genet. 1988. PMID: 2848758

6

Molecular characterisation of 10 Dutch properdin type I deficient families: mutation analysis and X-inactivation studies.

van den Bogaard R, Fijen CA, Schipper MG, de Galan L, Kuijper EJ, Mannens MM. van den Bogaard R, et al. Among authors: mannens mm. Eur J Hum Genet. 2000 Jul;8(7):513-8. doi: 10.1038/sj.ejhg.5200496. Eur J Hum Genet. 2000. PMID: 10909851

7

Increased tumour risk for BWS patients correlates with aberrant H19 and not KCNQ1OT1 methylation: occurrence of KCNQ1OT1 hypomethylation in familial cases of BWS.

Bliek J, Maas SM, Ruijter JM, Hennekam RC, Alders M, Westerveld A, Mannens MM. Bliek J, et al. Among authors: mannens mm. Hum Mol Genet. 2001 Mar 1;10(5):467-76. doi: 10.1093/hmg/10.5.467. Hum Mol Genet. 2001. PMID: 11181570

8

Chromosomal region 11p15 is associated with male factor subfertility.

Gianotten J, van der Veen F, Alders M, Leschot NJ, Tanck MW, Land JA, Kremer JA, Hoefsloot LH, Mannens MM, Lombardi MP, Hoffer MJ. Gianotten J, et al. Among authors: mannens mm. Mol Hum Reprod. 2003 Oct;9(10):587-92. doi: 10.1093/molehr/gag081. Mol Hum Reprod. 2003. PMID: 12970396

9

The 2373insG mutation in the MYBPC3 gene is a founder mutation, which accounts for nearly one-fourth of the HCM cases in the Netherlands.

Alders M, Jongbloed R, Deelen W, van den Wijngaard A, Doevendans P, Ten Cate F, Regitz-Zagrosek V, Vosberg HP, van Langen I, Wilde A, Dooijes D, Mannens M. Alders M, et al. Eur Heart J. 2003 Oct;24(20):1848-53. doi: 10.1016/s0195-668x(03)00466-4. Eur Heart J. 2003. PMID: 14563344

10

Novel tools for extraction and validation of disease-related mutations applied to Fabry disease.

Kuipers R, van den Bergh T, Joosten HJ, Lekanne dit Deprez RH, Mannens MM, Schaap PJ. Kuipers R, et al. Among authors: mannens mm. Hum Mutat. 2010 Sep;31(9):1026-32. doi: 10.1002/humu.21317. Hum Mutat. 2010. PMID: 20629180

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