van den Heuvel LP - Search Results

1

Decreased immunoglobulin class switching in Nijmegen Breakage syndrome due to the DNA repair defect.

van Engelen BG, Hiel JA, Gabreëls FJ, van den Heuvel LP, van Gent DC, Weemaes CM. van Engelen BG, et al. Among authors: van gent dc, van den heuvel lp. Hum Immunol. 2001 Dec;62(12):1324-7. doi: 10.1016/s0198-8859(01)00345-7. Hum Immunol. 2001. PMID: 11756000

2

Two new mutations in the sterol 27-hydroxylase gene in two families lead to cerebrotendinous xanthomatosis.

Verrips A, Steenbergen-Spanjers GC, Luyten JA, van den Heuvel LP, Keyser A, Gabreëls FJ, Wevers RA. Verrips A, et al. Among authors: van den heuvel lp. Hum Genet. 1996 Dec;98(6):735-7. doi: 10.1007/s004390050294. Hum Genet. 1996. PMID: 8931710

3

Exon skipping in the sterol 27-hydroxylase gene leads to cerebrotendinous xanthomatosis.

Verrips A, Steenbergen-Spanjers GC, Luyten JA, Wevers RA, Wokke JH, Gabreëls FJ, Wolthers BG, van den Heuvel LP. Verrips A, et al. Among authors: van den heuvel lp. Hum Genet. 1997 Aug;100(2):284-6. doi: 10.1007/s004390050506. Hum Genet. 1997. PMID: 9254865

4

A double missense mutation in the ATM gene of a Dutch family with ataxia telangiectasia.

van Belzen MJ, Hiel JA, Weemaes CM, Gabreëls FJ, van Engelen BG, Smeets DF, van den Heuvel LP. van Belzen MJ, et al. Among authors: van engelen bg, van den heuvel lp. Hum Genet. 1998 Feb;102(2):187-91. doi: 10.1007/s004390050675. Hum Genet. 1998. PMID: 9521587

5

A second common mutation in the methylenetetrahydrofolate reductase gene: an additional risk factor for neural-tube defects?

van der Put NM, Gabreëls F, Stevens EM, Smeitink JA, Trijbels FJ, Eskes TK, van den Heuvel LP, Blom HJ. van der Put NM, et al. Among authors: van den heuvel lp. Am J Hum Genet. 1998 May;62(5):1044-51. doi: 10.1086/301825. Am J Hum Genet. 1998. PMID: 9545395 Free PMC article.

6

Genetic characteristics of myoadenylate deaminase deficiency.

Verzijl HT, van Engelen BG, Luyten JA, Steenbergen GC, van den Heuvel LP, ter Laak HJ, Padberg GW, Wevers RA. Verzijl HT, et al. Among authors: van engelen bg, van den heuvel lp. Ann Neurol. 1998 Jul;44(1):140-3. doi: 10.1002/ana.410440124. Ann Neurol. 1998. PMID: 9667605 Clinical Trial.

7

Localization of the ICF syndrome to chromosome 20 by homozygosity mapping.

Wijmenga C, van den Heuvel LP, Strengman E, Luyten JA, van der Burgt IJ, de Groot R, Smeets DF, Draaisma JM, van Dongen JJ, De Abreu RA, Pearson PL, Sandkuijl LA, Weemaes CM. Wijmenga C, et al. Among authors: van dongen jj, van der burgt ij, van den heuvel lp. Am J Hum Genet. 1998 Sep;63(3):803-9. doi: 10.1086/302021. Am J Hum Genet. 1998. PMID: 9718351 Free PMC article.

8

A review of biochemical and molecular genetic aspects of tyrosine hydroxylase deficiency including a novel mutation (291delC).

Wevers RA, de Rijk-van Andel JF, Bräutigam C, Geurtz B, van den Heuvel LP, Steenbergen-Spanjers GC, Smeitink JA, Hoffmann GF, Gabreëls FJ. Wevers RA, et al. Among authors: van den heuvel lp. J Inherit Metab Dis. 1999 Jun;22(4):364-73. doi: 10.1023/a:1005539803576. J Inherit Metab Dis. 1999. PMID: 10407773 Review.

9

Spinal xanthomatosis: a variant of cerebrotendinous xanthomatosis.

Verrips A, Nijeholt GJ, Barkhof F, Van Engelen BG, Wesseling P, Luyten JA, Wevers RA, Stam J, Wokke JH, van den Heuvel LP, Keyser A, Gabreëls FJ. Verrips A, et al. Among authors: van engelen bg, van den heuvel lp. Brain. 1999 Aug;122 ( Pt 8):1589-95. doi: 10.1093/brain/122.8.1589. Brain. 1999. PMID: 10430841

10

Presence of diarrhea and absence of tendon xanthomas in patients with cerebrotendinous xanthomatosis.

Verrips A, van Engelen BG, Wevers RA, van Geel BM, Cruysberg JR, van den Heuvel LP, Keyser A, Gabreëls FJ. Verrips A, et al. Among authors: van engelen bg, van den heuvel lp, van geel bm. Arch Neurol. 2000 Apr;57(4):520-4. doi: 10.1001/archneur.57.4.520. Arch Neurol. 2000. PMID: 10768627 Review.

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