Kluijtmans LA - Search Results

1

A 31 bp VNTR in the cystathionine beta-synthase (CBS) gene is associated with reduced CBS activity and elevated post-load homocysteine levels.

Lievers KJ, Kluijtmans LA, Heil SG, Boers GH, Verhoef P, van Oppenraay-Emmerzaal D, den Heijer M, Trijbels FJ, Blom HJ. Lievers KJ, et al. Among authors: kluijtmans la. Eur J Hum Genet. 2001 Aug;9(8):583-9. doi: 10.1038/sj.ejhg.5200679. Eur J Hum Genet. 2001. PMID: 11528503

2

Comparison of diffusion weighted imaging b0 with T2*-weighted gradient echo or susceptibility weighted imaging for intracranial hemorrhage detection after reperfusion therapy for ischemic stroke.

Luijten SPR, van der Ende NAM, Cornelissen SAP, Kluijtmans L, van Hattem A, Lycklama A Nijeholt G, Postma AA, Bokkers RPH, Thomassen L, Waje-Andreassen U, Logallo N, Bracard S, Gory B, Roozenbeek B, Dippel DWJ, van der Lugt A. Luijten SPR, et al. Neuroradiology. 2023 Nov;65(11):1649-1655. doi: 10.1007/s00234-023-03180-3. Epub 2023 Jun 29. Neuroradiology. 2023. PMID: 37380891 Free PMC article.

3

Two novel missense mutations in the cystathionine beta-synthase gene in homocystinuric patients.

Kluijtmans LA, Blom HJ, Boers GH, van Oost BA, Trijbels FJ, van den Heuvel LP. Kluijtmans LA, et al. Hum Genet. 1995 Aug;96(2):249-50. doi: 10.1007/BF00207394. Hum Genet. 1995. PMID: 7635485

4

A candidate genetic risk factor for vascular disease: a common mutation in methylenetetrahydrofolate reductase.

Frosst P, Blom HJ, Milos R, Goyette P, Sheppard CA, Matthews RG, Boers GJ, den Heijer M, Kluijtmans LA, van den Heuvel LP, et al. Frosst P, et al. Among authors: kluijtmans la. Nat Genet. 1995 May;10(1):111-3. doi: 10.1038/ng0595-111. Nat Genet. 1995. PMID: 7647779 Free article.

5

Aberrant splicing of the COL4A5 gene in patients with Alport syndrome.

Lemmink HH, Kluijtmans LA, Brunner HG, Schröder CH, Knebelmann B, Jelínková E, van Oost BA, Monnens LA, Smeets HJ. Lemmink HH, et al. Among authors: kluijtmans la. Hum Mol Genet. 1994 Feb;3(2):317-22. doi: 10.1093/hmg/3.2.317. Hum Mol Genet. 1994. PMID: 8004101

6

Molecular genetic analysis in mild hyperhomocysteinemia: a common mutation in the methylenetetrahydrofolate reductase gene is a genetic risk factor for cardiovascular disease.

Kluijtmans LA, van den Heuvel LP, Boers GH, Frosst P, Stevens EM, van Oost BA, den Heijer M, Trijbels FJ, Rozen R, Blom HJ. Kluijtmans LA, et al. Am J Hum Genet. 1996 Jan;58(1):35-41. Am J Hum Genet. 1996. PMID: 8554066 Free PMC article.

7

Defective cystathionine beta-synthase regulation by S-adenosylmethionine in a partially pyridoxine responsive homocystinuria patient.

Kluijtmans LA, Boers GH, Stevens EM, Renier WO, Kraus JP, Trijbels FJ, van den Heuvel LP, Blom HJ. Kluijtmans LA, et al. J Clin Invest. 1996 Jul 15;98(2):285-9. doi: 10.1172/JCI118791. J Clin Invest. 1996. PMID: 8755636 Free PMC article.

8

The 677C-->T mutation in the methylenetetrahydrofolate reductase gene: associations with plasma total homocysteine levels and risk of coronary atherosclerotic disease.

Verhoef P, Kok FJ, Kluijtmans LA, Blom HJ, Refsum H, Ueland PM, Kruyssen DA. Verhoef P, et al. Among authors: kluijtmans la. Atherosclerosis. 1997 Jul 11;132(1):105-13. doi: 10.1016/s0021-9150(97)00084-1. Atherosclerosis. 1997. PMID: 9247365 Free article.

9

Sequence analysis of the coding region of human methionine synthase: relevance to hyperhomocysteinaemia in neural-tube defects and vascular disease.

van der Put NM, van der Molen EF, Kluijtmans LA, Heil SG, Trijbels JM, Eskes TK, Van Oppenraaij-Emmerzaal D, Banerjee R, Blom HJ. van der Put NM, et al. Among authors: kluijtmans la. QJM. 1997 Aug;90(8):511-7. doi: 10.1093/qjmed/90.8.511. QJM. 1997. PMID: 9327029 Free article.

10

Thermolabile methylenetetrahydrofolate reductase in coronary artery disease.

Kluijtmans LA, Kastelein JJ, Lindemans J, Boers GH, Heil SG, Bruschke AV, Jukema JW, van den Heuvel LP, Trijbels FJ, Boerma GJ, Verheugt FW, Willems F, Blom HJ. Kluijtmans LA, et al. Circulation. 1997 Oct 21;96(8):2573-7. doi: 10.1161/01.cir.96.8.2573. Circulation. 1997. PMID: 9355896

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Article Language

Species

Sex

Age

Other

140 results

Search Page

Filters