de Wijs IJ - Search Results

1

Localization of the gene (or genes) for a syndrome with X-linked mental retardation, ataxia, weakness, hearing impairment, loss of vision and a fatal course in early childhood.

Kremer H, Hamel BC, van den Helm B, Arts WF, de Wijs IJ, Sistermans EA, Ropers HH, Mariman EC. Kremer H, et al. Among authors: de wijs ij. Hum Genet. 1996 Nov;98(5):513-7. doi: 10.1007/s004390050250. Hum Genet. 1996. PMID: 8882866 Free article.

2

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

3

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.

4

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

5

L1 retrotransposition can occur early in human embryonic development.

van den Hurk JA, Meij IC, Seleme MC, Kano H, Nikopoulos K, Hoefsloot LH, Sistermans EA, de Wijs IJ, Mukhopadhyay A, Plomp AS, de Jong PT, Kazazian HH, Cremers FP. van den Hurk JA, et al. Among authors: de wijs ij. Hum Mol Genet. 2007 Jul 1;16(13):1587-92. doi: 10.1093/hmg/ddm108. Epub 2007 May 4. Hum Mol Genet. 2007. PMID: 17483097

6

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

7

The diagnostic yield of whole-exome sequencing targeting a gene panel for hearing impairment in The Netherlands.

Zazo Seco C, Wesdorp M, Feenstra I, Pfundt R, Hehir-Kwa JY, Lelieveld SH, Castelein S, Gilissen C, de Wijs IJ, Admiraal RJ, Pennings RJ, Kunst HP, van de Kamp JM, Tamminga S, Houweling AC, Plomp AS, Maas SM, de Koning Gans PA, Kant SG, de Geus CM, Frints SG, Vanhoutte EK, van Dooren MF, van den Boogaard MH, Scheffer H, Nelen M, Kremer H, Hoefsloot L, Schraders M, Yntema HG. Zazo Seco C, et al. Among authors: de wijs ij. Eur J Hum Genet. 2017 Feb;25(3):308-314. doi: 10.1038/ejhg.2016.182. Epub 2016 Dec 21. Eur J Hum Genet. 2017. PMID: 28000701 Free PMC article.

8

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

9

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

10

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

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