Oosterwijk JC - Search Results

1

Prenatal diagnosis of fragile X syndrome.

Willemsen R, Oosterwijk JC, Los FJ, Galjaard H, Oostra BA. Willemsen R, et al. Among authors: oosterwijk jc. Lancet. 1996 Oct 5;348(9032):967-8. doi: 10.1016/s0140-6736(05)65388-3. Lancet. 1996. PMID: 8843844 No abstract available.

2

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.

3

Normal phenotype in two brothers with a full FMR1 mutation.

Smeets HJ, Smits AP, Verheij CE, Theelen JP, Willemsen R, van de Burgt I, Hoogeveen AT, Oosterwijk JC, Oostra BA. Smeets HJ, et al. Among authors: oosterwijk jc. Hum Mol Genet. 1995 Nov;4(11):2103-8. doi: 10.1093/hmg/4.11.2103. Hum Mol Genet. 1995. PMID: 8589687

4

Prenatal diagnosis on fetal cells from maternal blood: approaches and perspectives.

Oosterwijk JC. Oosterwijk JC. Eur J Obstet Gynecol Reprod Biol. 1999 Feb;82(2):169-70. Eur J Obstet Gynecol Reprod Biol. 1999. PMID: 10206411 Review. No abstract available.

5

First-trimester prenatal diagnosis in twin pregnancies.

Christiaens GC, Oosterwijk JC, Stigter RH, Deutz-Terlouw PP, Kneppers AL, Bakker E. Christiaens GC, et al. Among authors: oosterwijk jc. Prenat Diagn. 1994 Jan;14(1):51-5. doi: 10.1002/pd.1970140109. Prenat Diagn. 1994. PMID: 8183837

6

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.

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

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

9

Two cases of maternal uniparental disomy 14 with a phenotype overlapping with the Prader-Willi phenotype.

Berends MJ, Hordijk R, Scheffer H, Oosterwijk JC, Halley DJ, Sorgedrager N. Berends MJ, et al. Among authors: oosterwijk jc. Am J Med Genet. 1999 May 7;84(1):76-9. doi: 10.1002/(sici)1096-8628(19990507)84:1<76::aid-ajmg16>3.0.co;2-f. Am J Med Genet. 1999. PMID: 10213052 No abstract available.

10

A practical approach to the detection of androgen receptor gene mutations and pedigree analysis in families with x-linked androgen insensitivity.

Ris-Stalpers C, Hoogenboezem T, Sleddens HF, Verleun-Mooijman MC, Degenhart HJ, Drop SL, Halley DJ, Oosterwijk JC, Hodgins MB, Trapman J, et al. Ris-Stalpers C, et al. Among authors: oosterwijk jc. Pediatr Res. 1994 Aug;36(2):227-34. doi: 10.1203/00006450-199408000-00015. Pediatr Res. 1994. PMID: 7970939

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