Oosterwijk JC - Search Results

1

Confirmation of X-linked inheritance and provisional mapping of the keratosis follicularis spinulosa decalvans gene on Xp in a large Dutch family.

Oosterwijk JC, Nelen M, Van Zandvoort PM, Van Osch LD, Oranje AP, Wittebol-Post D, Van Oost BA. Oosterwijk JC, et al. Ophthalmic Paediatr Genet. 1992 Mar;13(1):27-30. doi: 10.3109/13816819209070050. Ophthalmic Paediatr Genet. 1992. PMID: 1350668

2

Linkage analysis of keratosis follicularis spinulosa decalvans, and regional assignment to human chromosome Xp21.2-p22.2.

Oosterwijk JC, Nelen M, van Zandvoort PM, van Osch LD, Oranje AP, Wittebol-Post D, van Oost BA. Oosterwijk JC, et al. Am J Hum Genet. 1992 Apr;50(4):801-7. Am J Hum Genet. 1992. PMID: 1550124 Free PMC article.

3

[Keratosis follicularis spinulosa decalvans (Siemens I syndrome), initial results of molecular genetic research].

Oosterwijk JC, van Osch LD, Wittebol-Post D, Nelen M, van Zandvoort P, Oranje AP, van Oost BA. Oosterwijk JC, et al. Klin Monbl Augenheilkd. 1992 Dec;201(6):412-3. Klin Monbl Augenheilkd. 1992. PMID: 1287362 German. No abstract available.

4

Refinement of the localisation of the X linked keratosis follicularis spinulosa decalvans (KFSD) gene in Xp22.13-p22.2.

Oosterwijk JC, van der Wielen MJ, van de Vosse E, Voorhoeve E, Bakker E. Oosterwijk JC, et al. J Med Genet. 1995 Sep;32(9):736-9. doi: 10.1136/jmg.32.9.736. J Med Genet. 1995. PMID: 8544196 Free PMC article.

5

Molecular genetic analysis of two families with keratosis follicularis spinulosa decalvans: refinement of gene localization and evidence for genetic heterogeneity.

Oosterwijk JC, Richard G, van der Wielen MJ, van de Vosse E, Harth W, Sandkuijl LA, Bakker E, van Ommen GJ. Oosterwijk JC, et al. Hum Genet. 1997 Oct;100(5-6):520-4. doi: 10.1007/s004390050546. Hum Genet. 1997. PMID: 9341865

6

Keratosis pilaris atrophicans. One heterogeneous disease or a symptom in different clinical entities?

Oranje AP, van Osch LD, Oosterwijk JC. Oranje AP, et al. Among authors: oosterwijk jc. Arch Dermatol. 1994 Apr;130(4):500-2. doi: 10.1001/archderm.130.4.500. Arch Dermatol. 1994. PMID: 8166489 Free article. No abstract available.

7

First experiences with genetic counselling based on predictive DNA diagnosis in hereditary glomus tumours (paragangliomas).

Oosterwijk JC, Jansen JC, van Schothorst EM, Oosterhof AW, Devilee P, Bakker E, Zoeteweij MW, van der Mey AG. Oosterwijk JC, et al. J Med Genet. 1996 May;33(5):379-83. doi: 10.1136/jmg.33.5.379. J Med Genet. 1996. PMID: 8733047 Free PMC article.

8

Refinement of the chromosome 16 locus for benign familial infantile convulsions.

Callenbach PM, van den Boogerd EH, de Coo RF, ten Houten R, Oosterwijk JC, Hageman G, Frants RR, Brouwer OF, van den Maagdenberg AM. Callenbach PM, et al. Among authors: oosterwijk jc. Clin Genet. 2005 Jun;67(6):517-25. doi: 10.1111/j.1399-0004.2005.00445.x. Clin Genet. 2005. PMID: 15857419

9

An Xp22.1-p22.2 YAC contig encompassing the disease loci for RS, KFSD, CLS, HYP and RP15: refined localization of RS.

Van de Vosse E, Bergen AA, Meershoek EJ, Oosterwijk JC, Gregory S, Bakker B, Weissenbach J, Coffey AJ, van Ommen GJ, Den Dunnen JT. Van de Vosse E, et al. Among authors: oosterwijk jc. Eur J Hum Genet. 1996;4(2):101-4. doi: 10.1159/000472177. Eur J Hum Genet. 1996. PMID: 8744027

10

Prenatal diagnosis of the fragile X syndrome: loss of mutation owing to a double recombinant or gene conversion event at the FMR1 locus.

Losekoot M, Hoogendoorn E, Olmer R, Jansen CC, Oosterwijk JC, van den Ouweland AM, Halley DJ, Warren ST, Willemsen R, Oostra BA, Bakker E. Losekoot M, et al. Among authors: oosterwijk jc. J Med Genet. 1997 Nov;34(11):924-6. doi: 10.1136/jmg.34.11.924. J Med Genet. 1997. PMID: 9391887 Free PMC article.

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