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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.
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
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. Among authors: jansen rpm. 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.
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
The human interleukin-6 receptor alpha chain gene is localized on chromosome 1 band q21.
Kluck PM, Wiegant J, Jansen RP, Bolk MW, Raap AK, Willemze R, Landegent JE. Kluck PM, et al. Among authors: jansen rp. Hum Genet. 1993 Jan;90(5):542-4. doi: 10.1007/BF00217455. Hum Genet. 1993. PMID: 8428753
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.
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.
Clonal involvement of granulocytes and monocytes, but not of T and B lymphocytes and natural killer cells in patients with myelodysplasia: analysis by X-linked restriction fragment length polymorphisms and polymerase chain reaction of the phosphoglycerate kinase gene.
van Kamp H, Fibbe WE, Jansen RP, van der Keur M, de Graaff E, Willemze R, Landegent JE. van Kamp H, et al. Among authors: jansen rp. Blood. 1992 Oct 1;80(7):1774-80. Blood. 1992. PMID: 1356510
Myeloid but not lymphoid cells carry the 5q deletion: polymerase chain reaction analysis of loss of heterozygosity using mini-repeat sequences on highly purified cell fractions.
Kroef MJ, Fibbe WE, Mout R, Jansen RP, Haak HL, Wessels JW, Van Kamp H, Willemze R, Landegent JE. Kroef MJ, et al. Among authors: jansen rp. Blood. 1993 Apr 1;81(7):1849-54. Blood. 1993. PMID: 8461471
Clonal hematopoiesis in patients with acquired aplastic anemia.
van Kamp H, Landegent JE, Jansen RP, Willemze R, Fibbe WE. van Kamp H, et al. Among authors: jansen rp. Blood. 1991 Dec 15;78(12):3209-14. Blood. 1991. PMID: 1683796
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