Jansen R - Search Results

1

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. Among authors: jansen r. Prenat Diagn. 2005 Nov;25(11):1032-9. doi: 10.1002/pd.1247. Prenat Diagn. 2005. PMID: 16231311

2

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.

3

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.

4

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. Hum Mutat. 2006 Jul;27(7):654-66. doi: 10.1002/humu.20340. Hum Mutat. 2006. PMID: 16683254

5

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.

6

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.

7

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

8

Is an Aggressive Bisphosphonate-Based Regimen More Appropriate for CNO Mandibular Involvement?-Response Letter.

Jansen RB, Buch-Larsen K, Schwarz P. Jansen RB, et al. Calcif Tissue Int. 2024 May 28. doi: 10.1007/s00223-024-01230-3. Online ahead of print. Calcif Tissue Int. 2024. PMID: 38806757 No abstract available.

9

MR Imaging of Adverse Effects and Ocular Growth Decline after Selective Intra-Arterial Chemotherapy for Retinoblastoma.

de Bloeme CM, van Elst S, Galluzzi P, Jansen RW, de Haan J, Göricke S, Moll AC, Bot JCJ, Munier FL, Beck-Popovic M, Puccinelli F, Aerts I, Hadjistilianou T, Sirin S, Koob M, Brisse HJ, Cardoen L, Maeder P, de Jong MC, de Graaf P. de Bloeme CM, et al. Among authors: jansen rw. Cancers (Basel). 2024 May 16;16(10):1899. doi: 10.3390/cancers16101899. Cancers (Basel). 2024. PMID: 38791976 Free PMC article.

10

Overexpression of PEX14 results in mistargeting to mitochondria, accompanied by organelle fragmentation and clustering in human embryonic kidney cells.

Jansen RLM, de Boer R, de Lange EMF, Koster J, Vlijm R, Waterham HR, van der Klei IJ. Jansen RLM, et al. Biochim Biophys Acta Mol Cell Res. 2024 May 16;1871(6):119754. doi: 10.1016/j.bbamcr.2024.119754. Online ahead of print. Biochim Biophys Acta Mol Cell Res. 2024. PMID: 38762172 Free article.

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