Jaspers NG - Search Results

1

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.

2

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.

3

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

4

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

5

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

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

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.

8

A Turkish trichothiodystrophy patient with homozygous XPD mutation and genotype-phenotype relationship.

Pehlivan D, Cefle K, Raams A, Ozturk S, Baykal C, Kleijer WJ, Palanduz S, Jaspers NG. Pehlivan D, et al. Among authors: jaspers ng. J Dermatol. 2012 Dec;39(12):1016-21. doi: 10.1111/j.1346-8138.2012.01662.x. Epub 2012 Oct 5. J Dermatol. 2012. PMID: 23039039

9

Identification of C7orf11 (TTDN1) gene mutations and genetic heterogeneity in nonphotosensitive trichothiodystrophy.

Nakabayashi K, Amann D, Ren Y, Saarialho-Kere U, Avidan N, Gentles S, MacDonald JR, Puffenberger EG, Christiano AM, Martinez-Mir A, Salas-Alanis JC, Rizzo R, Vamos E, Raams A, Les C, Seboun E, Jaspers NG, Beckmann JS, Jackson CE, Scherer SW. Nakabayashi K, et al. Among authors: jaspers ng. Am J Hum Genet. 2005 Mar;76(3):510-6. doi: 10.1086/428141. Epub 2005 Jan 11. Am J Hum Genet. 2005. PMID: 15645389 Free PMC article.

10

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

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