Jaspers NG - Search Results

1

Prenatal diagnosis of ataxia-telangiectasia and Nijmegen Breakage syndrome by the assay of radioresistant DNA synthesis.

Kleijer WJ, van der Kraan M, Los FJ, Jaspers NG. Kleijer WJ, et al. Among authors: jaspers ng. Int J Radiat Biol. 1994 Dec;66(6 Suppl):S167-74. Int J Radiat Biol. 1994. PMID: 7836844

2

Prenatal diagnosis of the Cockayne syndrome: survey of 15 years experience.

Kleijer WJ, van der Sterre ML, Garritsen VH, Raams A, Jaspers NG. Kleijer WJ, et al. Among authors: jaspers ng. Prenat Diagn. 2006 Oct;26(10):980-4. doi: 10.1002/pd.1541. Prenat Diagn. 2006. PMID: 16941719

3

Prenatal diagnosis of xeroderma pigmentosum and trichothiodystrophy in 76 pregnancies at risk.

Kleijer WJ, van der Sterre ML, Garritsen VH, Raams A, Jaspers NG. Kleijer WJ, et al. Among authors: jaspers ng. Prenat Diagn. 2007 Dec;27(12):1133-7. doi: 10.1002/pd.1849. Prenat Diagn. 2007. PMID: 17880036

4

First-trimester prenatal diagnosis of the Nijmegen breakage syndrome and ataxia telangiectasia using an assay of radioresistant DNA synthesis.

Jaspers NG, van der Kraan M, Linssen PC, Maçek M, Seemanová E, Kleijer WJ. Jaspers NG, et al. Prenat Diagn. 1990 Oct;10(10):667-74. doi: 10.1002/pd.1970101006. Prenat Diagn. 1990. PMID: 2274491

5

Xeroderma pigmentosum--Cockayne syndrome complex: a further case.

Hamel BC, Raams A, Schuitema-Dijkstra AR, Simons P, van der Burgt I, Jaspers NG, Kleijer WJ. Hamel BC, et al. Among authors: jaspers ng. J Med Genet. 1996 Jul;33(7):607-10. doi: 10.1136/jmg.33.7.607. J Med Genet. 1996. PMID: 8818951 Free PMC article.

6

ATM germline mutations in classical ataxia-telangiectasia patients in the Dutch population.

Broeks A, de Klein A, Floore AN, Muijtjens M, Kleijer WJ, Jaspers NG, van 't Veer LJ. Broeks A, et al. Among authors: jaspers ng. Hum Mutat. 1998;12(5):330-7. doi: 10.1002/(SICI)1098-1004(1998)12:5<330::AID-HUMU6>3.0.CO;2-H. Hum Mutat. 1998. PMID: 9792409

7

Prenatal diagnosis of xeroderma pigmentosum (group C) using assays of unscheduled DNA synthesis and postreplication repair.

Halley DJ, Keijzer W, Jaspers NG, Niermeijer MF, Kleijer WJ, Boué J, Boué A, Bootsma D. Halley DJ, et al. Among authors: jaspers ng. Clin Genet. 1979 Sep;16(3):137-46. doi: 10.1111/j.1399-0004.1979.tb00982.x. Clin Genet. 1979. PMID: 487635

8

Homozygous R788W point mutation in the XPF gene of a patient with xeroderma pigmentosum and late-onset neurologic disease.

Sijbers AM, van Voorst Vader PC, Snoek JW, Raams A, Jaspers NG, Kleijer WJ. Sijbers AM, et al. Among authors: jaspers ng. J Invest Dermatol. 1998 May;110(5):832-6. doi: 10.1046/j.1523-1747.1998.00171.x. J Invest Dermatol. 1998. PMID: 9579555 Free article.

9

A temperature-sensitive disorder in basal transcription and DNA repair in humans.

Vermeulen W, Rademakers S, Jaspers NG, Appeldoorn E, Raams A, Klein B, Kleijer WJ, Hansen LK, Hoeijmakers JH. Vermeulen W, et al. Among authors: jaspers ng. Nat Genet. 2001 Mar;27(3):299-303. doi: 10.1038/85864. Nat Genet. 2001. PMID: 11242112

10

Cerebro-oculo-facio-skeletal syndrome with a nucleotide excision-repair defect and a mutated XPD gene, with prenatal diagnosis in a triplet pregnancy.

Graham JM Jr, Anyane-Yeboa K, Raams A, Appeldoorn E, Kleijer WJ, Garritsen VH, Busch D, Edersheim TG, Jaspers NG. Graham JM Jr, et al. Among authors: jaspers ng. Am J Hum Genet. 2001 Aug;69(2):291-300. doi: 10.1086/321295. Epub 2001 Jul 3. Am J Hum Genet. 2001. PMID: 11443545 Free PMC article.

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