Jaspers NG - Search Results

1

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

2

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

3

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

4

Mutations in the C7orf11 (TTDN1) gene in six nonphotosensitive trichothiodystrophy patients: no obvious genotype-phenotype relationships.

Botta E, Offman J, Nardo T, Ricotti R, Zambruno G, Sansone D, Balestri P, Raams A, Kleijer WJ, Jaspers NG, Sarasin A, Lehmann AR, Stefanini M. Botta E, et al. Among authors: jaspers ng. Hum Mutat. 2007 Jan;28(1):92-6. doi: 10.1002/humu.20419. Hum Mutat. 2007. PMID: 16977596

5

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.

6

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.

7

First reported patient with human ERCC1 deficiency has cerebro-oculo-facio-skeletal syndrome with a mild defect in nucleotide excision repair and severe developmental failure.

Jaspers NG, Raams A, Silengo MC, Wijgers N, Niedernhofer LJ, Robinson AR, Giglia-Mari G, Hoogstraten D, Kleijer WJ, Hoeijmakers JH, Vermeulen W. Jaspers NG, et al. Am J Hum Genet. 2007 Mar;80(3):457-66. doi: 10.1086/512486. Epub 2007 Jan 29. Am J Hum Genet. 2007. PMID: 17273966 Free PMC article.

8

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

9

Predominance of null mutations in ataxia-telangiectasia.

Gilad S, Khosravi R, Shkedy D, Uziel T, Ziv Y, Savitsky K, Rotman G, Smith S, Chessa L, Jorgensen TJ, Harnik R, Frydman M, Sanal O, Portnoi S, Goldwicz Z, Jaspers NG, Gatti RA, Lenoir G, Lavin MF, Tatsumi K, Wegner RD, Shiloh Y, Bar-Shira A. Gilad S, et al. Among authors: jaspers ng. Hum Mol Genet. 1996 Apr;5(4):433-9. doi: 10.1093/hmg/5.4.433. Hum Mol Genet. 1996. PMID: 8845835 Free article.

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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