van Oost BA - Search Results

1

Familial mitochondrial encephalopathy with fetal ultrasonographic ventriculomegaly and intracerebral calcifications.

Samson JF, Barth PG, de Vries JI, Menko FH, Ruitenbeek W, van Oost BA, Jakobs C. Samson JF, et al. Among authors: van oost ba. Eur J Pediatr. 1994 Jul;153(7):510-6. doi: 10.1007/BF01957007. Eur J Pediatr. 1994. PMID: 7957369

2

Benign mitochondrial encephalomyopathy in a patient with complex I deficiency.

Trijbels JM, Ruitenbeek W, Sengers RC, Janssen AJ, van Oost BA. Trijbels JM, et al. Among authors: van oost ba. J Inherit Metab Dis. 1996;19(2):149-52. doi: 10.1007/BF01799416. J Inherit Metab Dis. 1996. PMID: 8739952 No abstract available.

3

Enzymological versus DNA investigations in mitochondrial (encephalo-) myopathies.

de Vries DD, Ruitenbeek W, de Wijs IJ, Trijbels JM, van Oost BA. de Vries DD, et al. Among authors: van oost ba. J Inherit Metab Dis. 1993;16(3):534-6. doi: 10.1007/BF00711674. J Inherit Metab Dis. 1993. PMID: 7609445 Clinical Trial. No abstract available.

4

Extreme variability of clinical symptoms among sibs in a MELAS family correlated with heteroplasmy for the mitochondrial A3243G mutation.

de Vries D, de Wijs I, Ruitenbeek W, Begeer J, Smit P, Bentlage H, van Oost B. de Vries D, et al. J Neurol Sci. 1994 Jun;124(1):77-82. doi: 10.1016/0022-510x(94)90014-0. J Neurol Sci. 1994. PMID: 7931425

5

The gene for X-linked myotubular myopathy is located in an 8 Mb region at the border of Xq27.3 and Xq28.

Janssen EA, Hensels GW, van Oost BA, Hamel BC, Kemp S, Baas F, Weber JW, Barth PG, Bolhuis PA. Janssen EA, et al. Among authors: van oost ba. Neuromuscul Disord. 1994 Sep-Nov;4(5-6):455-61. doi: 10.1016/0960-8966(94)90084-1. Neuromuscul Disord. 1994. PMID: 7881289

6

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: van oost ba, van engelen bg. Ann Neurol. 1993 Sep;34(3):410-2. doi: 10.1002/ana.410340319. Ann Neurol. 1993. PMID: 8395787

7

Detection of extremely low levels of wild-type mitochondrial DNA in the liver of a patient with Pearson syndrome by a sensitive PCR assay.

de Vries DD, Ruitenbeek W, van Oost BA. de Vries DD, et al. Among authors: van oost ba. J Inherit Metab Dis. 1992;15(3):307-10. doi: 10.1007/BF02435963. J Inherit Metab Dis. 1992. PMID: 1405463 No abstract available.

8

Myopathology and a mitochondrial DNA deletion in the Pearson marrow and pancreas syndrome.

de Vries DD, Buzing CJ, Ruitenbeek W, van der Wouw MP, Sperl W, Sengers RC, Trijbels JM, van Oost BA. de Vries DD, et al. Among authors: van oost ba, van der wouw mp. Neuromuscul Disord. 1992;2(3):185-95. doi: 10.1016/0960-8966(92)90005-q. Neuromuscul Disord. 1992. PMID: 1483044

9

The gene for hereditary bullous dystrophy, X-linked macular type, maps to the Xq27.3-qter region.

Wijker M, Ligtenberg MJ, Schoute F, Defesche JC, Pals G, Bolhuis PA, Ropers HH, Hulsebos TJ, Menko FH, van Oost BA, et al. Wijker M, et al. Among authors: van oost ba. Am J Hum Genet. 1995 May;56(5):1096-100. Am J Hum Genet. 1995. PMID: 7726164 Free PMC article.

10

Identification of a two base pair deletion in five unrelated families with adrenoleukodystrophy: a possible hot spot for mutations.

Kemp S, Ligtenberg MJ, van Geel BM, Barth PG, Wolterman RA, Schoute F, Sarde CO, Mandel JL, van Oost BA, Bolhuis PA. Kemp S, et al. Among authors: van oost ba, van geel bm. Biochem Biophys Res Commun. 1994 Jul 29;202(2):647-53. doi: 10.1006/bbrc.1994.1979. Biochem Biophys Res Commun. 1994. PMID: 8048932

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