Jansen RP - Search Results

1

Six novel mutations in the alpha-galactosidase A gene in families with Fabry disease.

Ploos van Amstel JK, Jansen RP, de Jong JG, Hamel BC, Wevers RA. Ploos van Amstel JK, et al. Among authors: jansen rp. Hum Mol Genet. 1994 Mar;3(3):503-5. doi: 10.1093/hmg/3.3.503. Hum Mol Genet. 1994. PMID: 8012363 No abstract available.

2

Uneven X inactivation in a female monozygotic twin pair with Fabry disease and discordant expression of a novel mutation in the alpha-galactosidase A gene.

Redonnet-Vernhet I, Ploos van Amstel JK, Jansen RP, Wevers RA, Salvayre R, Levade T. Redonnet-Vernhet I, et al. Among authors: jansen rp. J Med Genet. 1996 Aug;33(8):682-8. doi: 10.1136/jmg.33.8.682. J Med Genet. 1996. PMID: 8863162 Free PMC article.

3

Prenatal diagnosis of type I hereditary tyrosinaemia.

Ploos van Amstel JK, Jansen RP, Verjaal M, van den Berg IE, Berger R. Ploos van Amstel JK, et al. Among authors: jansen rp. Lancet. 1994 Jul 30;344(8918):336. doi: 10.1016/s0140-6736(94)91375-7. Lancet. 1994. PMID: 7914281 No abstract available.

4

Mutation analysis of the RET proto-oncogene in Dutch families with MEN 2A, MEN 2B and FMTC: two novel mutations and one de novo mutation for MEN 2A.

Landsvater RM, Jansen RP, Hofstra RM, Buys CH, Lips CJ, Ploos van Amstel HK. Landsvater RM, et al. Among authors: jansen rp. Hum Genet. 1996 Jan;97(1):11-4. doi: 10.1007/BF00218825. Hum Genet. 1996. PMID: 8557249

5

Rapid detection of chromosomal aneuploidies in uncultured amniocytes by multiplex ligation-dependent probe amplification (MLPA).

Hochstenbach R, Meijer J, van de Brug J, Vossebeld-Hoff I, Jansen R, van der Luijt RB, Sinke RJ, Page-Christiaens GC, Ploos van Amstel JK, de Pater JM. Hochstenbach R, et al. Prenat Diagn. 2005 Nov;25(11):1032-9. doi: 10.1002/pd.1247. Prenat Diagn. 2005. PMID: 16231311

6

De novo recurrent germline mutation of the BRCA2 gene in a patient with early onset breast cancer.

van der Luijt RB, van Zon PH, Jansen RP, van der Sijs-Bos CJ, Wárlám-Rodenhuis CC, Ausems MG. van der Luijt RB, et al. Among authors: jansen rp. J Med Genet. 2001 Feb;38(2):102-5. doi: 10.1136/jmg.38.2.102. J Med Genet. 2001. PMID: 11158174 Free PMC article.

7

Sensitive Monogenic Noninvasive Prenatal Diagnosis by Targeted Haplotyping.

Vermeulen C, Geeven G, de Wit E, Verstegen MJAM, Jansen RPM, van Kranenburg M, de Bruijn E, Pulit SL, Kruisselbrink E, Shahsavari Z, Omrani D, Zeinali F, Najmabadi H, Katsila T, Vrettou C, Patrinos GP, Traeger-Synodinos J, Splinter E, Beekman JM, Kheradmand Kia S, Te Meerman GJ, Ploos van Amstel HK, de Laat W. Vermeulen C, et al. Am J Hum Genet. 2017 Sep 7;101(3):326-339. doi: 10.1016/j.ajhg.2017.07.012. Epub 2017 Aug 24. Am J Hum Genet. 2017. PMID: 28844486 Free PMC article.

8

A DGGE system for comprehensive mutation screening of BRCA1 and BRCA2: application in a Dutch cancer clinic setting.

van der Hout AH, van den Ouweland AM, van der Luijt RB, Gille HJ, Bodmer D, Brüggenwirth H, Mulder IM, van der Vlies P, Elfferich P, Huisman MT, ten Berge AM, Kromosoeto J, Jansen RP, van Zon PH, Vriesman T, Arts N, Lange MB, Oosterwijk JC, Meijers-Heijboer H, Ausems MG, Hoogerbrugge N, Verhoef S, Halley DJ, Vos YJ, Hogervorst F, Ligtenberg M, Hofstra RM. van der Hout AH, et al. Among authors: jansen rp. Hum Mutat. 2006 Jul;27(7):654-66. doi: 10.1002/humu.20340. Hum Mutat. 2006. PMID: 16683254

9

The high-density lipoprotein binding protein HDLBP is an unusual RNA-binding protein with multiple roles in cancer and disease.

Feicht J, Jansen RP. Feicht J, et al. Among authors: jansen rp. RNA Biol. 2024 Jan;21(1):1-10. doi: 10.1080/15476286.2024.2313881. Epub 2024 Mar 13. RNA Biol. 2024. PMID: 38477883 Free PMC article. Review.

10

Proteomic Mapping by APEX2-Catalyzed Proximity Labeling in Saccharomyces cerevisiae Semipermeabilized Cells.

Singer-Krüger B, Jansen RP. Singer-Krüger B, et al. Among authors: jansen rp. Methods Mol Biol. 2022;2477:261-274. doi: 10.1007/978-1-0716-2257-5_15. Methods Mol Biol. 2022. PMID: 35524122

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