Nelen MR - Search Results

1

Diagnostic analysis of the highly complex OPN1LW/OPN1MW gene cluster using long-read sequencing and MLPA.

Haer-Wigman L, den Ouden A, van Genderen MM, Kroes HY, Verheij J, Smailhodzic D, Hoekstra AS, Vijzelaar R, Blom J, Derks R, Tjon-Pon-Fong M, Yntema HG, Nelen MR, Vissers LELM, Lugtenberg D, Neveling K. Haer-Wigman L, et al. Among authors: nelen mr. NPJ Genom Med. 2022 Nov 9;7(1):65. doi: 10.1038/s41525-022-00334-9. NPJ Genom Med. 2022. PMID: 36351915 Free PMC article.

2

Association of PHB 1630 C>T and MTHFR 677 C>T polymorphisms with breast and ovarian cancer risk in BRCA1/2 mutation carriers: results from a multicenter study.

Jakubowska A, Rozkrut D, Antoniou A, Hamann U, Scott RJ, McGuffog L, Healy S, Sinilnikova OM, Rennert G, Lejbkowicz F, Flugelman A, Andrulis IL, Glendon G, Ozcelik H; OCGN; Thomassen M, Paligo M, Aretini P; SWE-BRCA; Kantala J, Aroer B, von Wachenfeldt A, Liljegren A, Loman N, Herbst K, Kristoffersson U, Rosenquist R, Karlsson P, Stenmark-Askmalm M, Melin B, Nathanson KL, Domchek SM, Byrski T, Huzarski T, Gronwald J, Menkiszak J, Cybulski C, Serrano P, Osorio A, Cajal TR, Tsitlaidou M, Benítez J, Gilbert M; HEBON; Rookus M, Aalfs CM, Kluijt I, Boessenkool-Pape JL, Meijers-Heijboer HE, Oosterwijk JC, van Asperen CJ, Blok MJ, Nelen MR, van den Ouweland AM, Seynaeve C, van der Luijt RB, Devilee P; EMBRACE; Easton DF, Peock S, Frost D, Platte R, Ellis SD, Fineberg E, Evans DG, Lalloo F, Eeles R, Jacobs C, Adlard J, Davidson R, Eccles D, Cole T, Cook J, Godwin A, Bove B; GEMO Study Collaborators; Stoppa-Lyonnet D, Caux-Moncoutier V, Belotti M, Tirapo C, Mazoyer S, Barjhoux L, Boutry-Kryza N, Pujol P, Coupier I, Peyrat JP, Vennin P, Muller D, Fricker JP, Venat-Bouvet L, Johannsson OT, Isaacs C, Schmutzler R, Wappenschmidt B, Meindl A, Arnold N, Varon-Mateeva R, Niederacher D, Sut… See abstract for full author list ➔ Jakubowska A, et al. Among authors: nelen mr. Br J Cancer. 2012 Jun 5;106(12):2016-24. doi: 10.1038/bjc.2012.160. Epub 2012 May 15. Br J Cancer. 2012. PMID: 22669161 Free PMC article.

3

Reduced connexin40 protein expression in the right atrial appendage of patients bearing the minor connexin40 allele (-44 G --> A).

Chaldoupi SM, Hubens LE, Smit Duijzentkunst DA, van Stuijvenberg L, Bierhuizen MF, van Aarnhem EE, Nelen M, de Bakker JM, Hauer RN, van Rijen HV, Loh P, van Veen TA. Chaldoupi SM, et al. Europace. 2012 Aug;14(8):1199-205. doi: 10.1093/europace/eus047. Epub 2012 Mar 15. Europace. 2012. PMID: 22423256

4

Newborn screening for Cerebrotendinous Xanthomatosis: A retrospective biomarker study using both flow-injection and UPLC-MS/MS analysis in 20,000 newborns.

Vaz FM, Jamal Y, Barto R, Gelb MH, DeBarber AE, Wevers RA, Nelen MR, Verrips A, Bootsma AH, Bouva MJ, Kleise N, van der Zee W, He T, Salomons GS, Huidekoper HH. Vaz FM, et al. Among authors: nelen mr. Clin Chim Acta. 2023 Jan 15;539:170-174. doi: 10.1016/j.cca.2022.12.011. Epub 2022 Dec 16. Clin Chim Acta. 2023. PMID: 36529270 Free PMC article.

5

[Keratosis follicularis spinulosa decalvans (Siemens I syndrome), initial results of molecular genetic research].

Oosterwijk JC, van Osch LD, Wittebol-Post D, Nelen M, van Zandvoort P, Oranje AP, van Oost BA. Oosterwijk JC, et al. Klin Monbl Augenheilkd. 1992 Dec;201(6):412-3. Klin Monbl Augenheilkd. 1992. PMID: 1287362 German. No abstract available.

6

Genomic footprinting of mitochondrial DNA: I. In organello analysis of protein-mitochondrial DNA interactions in bovine mitochondria.

Madsen CS, Ghivizzani SC, Ammini CV, Nelen MR, Hauswirth WW. Madsen CS, et al. Among authors: nelen mr. Methods Enzymol. 1996;264:12-22. doi: 10.1016/s0076-6879(96)64004-x. Methods Enzymol. 1996. PMID: 8965685 No abstract available.

7

Somatic expansion behaviour of the (CTG)n repeat in myotonic dystrophy knock-in mice is differentially affected by Msh3 and Msh6 mismatch-repair proteins.

van den Broek WJ, Nelen MR, Wansink DG, Coerwinkel MM, te Riele H, Groenen PJ, Wieringa B. van den Broek WJ, et al. Among authors: nelen mr. Hum Mol Genet. 2002 Jan 15;11(2):191-8. doi: 10.1093/hmg/11.2.191. Hum Mol Genet. 2002. PMID: 11809728

8

Fen1 does not control somatic hypermutability of the (CTG)(n)*(CAG)(n) repeat in a knock-in mouse model for DM1.

van den Broek WJ, Nelen MR, van der Heijden GW, Wansink DG, Wieringa B. van den Broek WJ, et al. Among authors: nelen mr. FEBS Lett. 2006 Oct 2;580(22):5208-14. doi: 10.1016/j.febslet.2006.08.059. Epub 2006 Sep 5. FEBS Lett. 2006. PMID: 16978612 Free article.

9

Exclusion of the dysplastic nevus syndrome (DNS) locus from the short arm of chromosome 1 by linkage studies in Dutch families.

van Haeringen A, Bergman W, Nelen MR, van der Kooij-Meijs E, Hendrikse I, Wijnen JT, Khan PM, Klasen EC, Frants RR. van Haeringen A, et al. Among authors: nelen mr. Genomics. 1989 Jul;5(1):61-4. doi: 10.1016/0888-7543(89)90086-4. Genomics. 1989. PMID: 2504660

10

Lhermitte-Duclos disease as a component of Cowden's syndrome. Case report and review of the literature.

Koch R, Scholz M, Nelen MR, Schwechheimer K, Epplen JT, Harders AG. Koch R, et al. Among authors: nelen mr. J Neurosurg. 1999 Apr;90(4):776-9. doi: 10.3171/jns.1999.90.4.0776. J Neurosurg. 1999. PMID: 10193626 Review.

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