de Wijs IJ - Search Results

1

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: de wijs ij. 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.

2

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

3

X-linked myoclonus epilepsy explained as a maternally inherited mitochondrial disorder.

de Vries DD, de Wijs IJ, Wolff G, Ketelsen UP, Ropers HH, van Oost BA. de Vries DD, et al. Among authors: de wijs ij. Hum Genet. 1993 Mar;91(1):51-4. doi: 10.1007/BF00230222. Hum Genet. 1993. PMID: 8454287

4

A mitochondrial tRNA(Val) gene mutation (G1642A) in a patient with mitochondrial myopathy, lactic acidosis, and stroke-like episodes.

de Coo IF, Sistermans EA, de Wijs IJ, Catsman-Berrevoets C, Busch HF, Scholte HR, de Klerk JB, van Oost BA, Smeets HJ. de Coo IF, et al. Among authors: de wijs ij, de klerk jb. Neurology. 1998 Jan;50(1):293-5. doi: 10.1212/wnl.50.1.293. Neurology. 1998. PMID: 9443499

5

Duplication of the proteolipid protein gene is the major cause of Pelizaeus-Merzbacher disease.

Sistermans EA, de Coo RF, De Wijs IJ, Van Oost BA. Sistermans EA, et al. Among authors: de wijs ij, de coo rf. Neurology. 1998 Jun;50(6):1749-54. doi: 10.1212/wnl.50.6.1749. Neurology. 1998. PMID: 9633722

6

A (G-to-A) mutation in the initiation codon of the proteolipid protein gene causing a relatively mild form of Pelizaeus-Merzbacher disease in a Dutch family.

Sistermans EA, de Wijs IJ, de Coo RF, Smit LM, Menko FH, van Oost BA. Sistermans EA, et al. Among authors: de wijs ij, de coo rf. Hum Genet. 1996 Mar;97(3):337-9. doi: 10.1007/BF02185767. Hum Genet. 1996. PMID: 8786077 Free article.

7

Yeast artificial chromosome cloning of the Xq13.3-q21.31 region and fine mapping of a deletion associated with choroideremia and nonspecific mental retardation.

van der Maarel SM, Scholten IH, Maat-Kievit JA, Huber I, de Kok YJ, de Wijs I, van de Pol TJ, van Bokhoven H, den Dunnen JT, van Ommen GJ, et al. van der Maarel SM, et al. Eur J Hum Genet. 1995;3(4):207-18. doi: 10.1159/000472301. Eur J Hum Genet. 1995. PMID: 8528669

8

Novel types of mutation in the choroideremia ( CHM) gene: a full-length L1 insertion and an intronic mutation activating a cryptic exon.

van den Hurk JA, van de Pol DJ, Wissinger B, van Driel MA, Hoefsloot LH, de Wijs IJ, van den Born LI, Heckenlively JR, Brunner HG, Zrenner E, Ropers HH, Cremers FP. van den Hurk JA, et al. Among authors: de wijs ij. Hum Genet. 2003 Aug;113(3):268-75. doi: 10.1007/s00439-003-0970-0. Epub 2003 Jun 25. Hum Genet. 2003. PMID: 12827496

9

CYP21 gene mutation analysis in 198 patients with 21-hydroxylase deficiency in The Netherlands: six novel mutations and a specific cluster of four mutations.

Stikkelbroeck NM, Hoefsloot LH, de Wijs IJ, Otten BJ, Hermus AR, Sistermans EA. Stikkelbroeck NM, et al. Among authors: de wijs ij. J Clin Endocrinol Metab. 2003 Aug;88(8):3852-9. doi: 10.1210/jc.2002-021681. J Clin Endocrinol Metab. 2003. PMID: 12915679

10

Use of TaqI digestion may lead to incorrect molecular diagnosis of congenital adrenal hyperplasia due to 21-hydroxylase deficiency.

Lee HH, de Wijs IJ, Sistermans EA. Lee HH, et al. Among authors: de wijs ij. Mol Genet Metab. 2000 Aug;70(4):322-4. doi: 10.1006/mgme.2000.3023. Mol Genet Metab. 2000. PMID: 10993720

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