Gabreëls FJ - Search Results

1

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: gabreels fj. Hum Genet. 1998 Feb;102(2):187-91. doi: 10.1007/s004390050675. Hum Genet. 1998. PMID: 9521587

2

Distal spinal muscular atrophy as a major feature in adult-onset ataxia telangiectasia.

Hiel JA, van Engelen BG, Weemaes CM, Broeks A, Verrips A, ter Laak H, Vingerhoets HM, van den Heuvel LP, Lammens M, Gabreëls FJ, Last JI, Taylor AM. Hiel JA, et al. Among authors: gabreels fj. Neurology. 2006 Jul 25;67(2):346-9. doi: 10.1212/01.wnl.0000224878.22821.23. Neurology. 2006. PMID: 16864838

3

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: gabreels f. Am J Hum Genet. 1998 May;62(5):1044-51. doi: 10.1086/301825. Am J Hum Genet. 1998. PMID: 9545395 Free PMC article.

4

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: gabreels fj. Hum Genet. 1996 Dec;98(6):735-7. doi: 10.1007/s004390050294. Hum Genet. 1996. PMID: 8931710

5

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: gabreels fj. Hum Genet. 1997 Aug;100(2):284-6. doi: 10.1007/s004390050506. Hum Genet. 1997. PMID: 9254865

6

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: gabreels fj. Hum Immunol. 2001 Dec;62(12):1324-7. doi: 10.1016/s0198-8859(01)00345-7. Hum Immunol. 2001. PMID: 11756000

7

Nijmegen breakage syndrome: a neuropathological study.

Lammens M, Hiel JA, Gabreëls FJ, van Engelen BG, van den Heuvel LP, Weemaes CM. Lammens M, et al. Among authors: gabreels fj. Neuropediatrics. 2003 Aug;34(4):189-93. doi: 10.1055/s-2003-42207. Neuropediatrics. 2003. PMID: 12973659

8

A second missense mutation in the mitochondrial ATPase 6 gene in Leigh's syndrome.

de Vries DD, van Engelen BG, Gabreëls FJ, Ruitenbeek W, van Oost BA. de Vries DD, et al. Among authors: gabreels fj. Ann Neurol. 1993 Sep;34(3):410-2. doi: 10.1002/ana.410340319. Ann Neurol. 1993. PMID: 8395787

9

Clinical and molecular genetic characteristics of patients with cerebrotendinous xanthomatosis.

Verrips A, Hoefsloot LH, Steenbergen GC, Theelen JP, Wevers RA, Gabreëls FJ, van Engelen BG, van den Heuvel LP. Verrips A, et al. Among authors: gabreels fj. Brain. 2000 May;123 ( Pt 5):908-19. doi: 10.1093/brain/123.5.908. Brain. 2000. PMID: 10775536

10

Immunoglobulin treatment in epilepsy, a review of the literature.

van Engelen BG, Renier WO, Weemaes CM, Gabreels FJ, Meinardi H. van Engelen BG, et al. Among authors: gabreels fj. Epilepsy Res. 1994 Dec;19(3):181-90. doi: 10.1016/0920-1211(94)90061-2. Epilepsy Res. 1994. PMID: 7698094 Review.

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