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Year Number of Results
2001 5
2003 1
2005 1
2007 1
2008 3
2011 2
2012 1
2017 2
2018 1
2020 1
2022 2
2024 1

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20 results

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Page 1
The hemoglobinopathies, molecular disease mechanisms and diagnostics.
Harteveld CL, Achour A, Arkesteijn SJG, Ter Huurne J, Verschuren M, Bhagwandien-Bisoen S, Schaap R, Vijfhuizen L, El Idrissi H, Koopmann TT. Harteveld CL, et al. Among authors: ter huurne j. Int J Lab Hematol. 2022 Sep;44 Suppl 1(Suppl 1):28-36. doi: 10.1111/ijlh.13885. Int J Lab Hematol. 2022. PMID: 36074711 Free PMC article. Review.
A new gene associated with a β-thalassemia phenotype: the observation of variants in SUPT5H.
Achour A, Koopmann T, Castel R, Santen GWE, den Hollander N, Knijnenburg J, Ruivenkamp CAL, Arkesteijn SGJ, Ter Huurne J, Bisoen S, Verschuren M, Vijfhuizen L, Schaap R, Grimbergen A, Slomp J, Traeger-Synodinos J, Vrettou C, Pissard S, Galacteros F, Baas F, Harteveld CL. Achour A, et al. Among authors: ter huurne j. Blood. 2020 Oct 8;136(15):1789-1793. doi: 10.1182/blood.2020005934. Blood. 2020. PMID: 32589702 Free article. No abstract available.
Alpha Thalassemia Screening in Multiethnic Population in Northern Europe Using Hb Bart's Immunochromatographic Test.
Nik Mohd Hasan NFF, Arkesteijn SJG, Ter Huurne J, Verschuren M, Bhagwandien-Bisoen S, Schaap R, Vijfhuizen L, El Idrissi H, Koopmann TT, Harteveld CL. Nik Mohd Hasan NFF, et al. Among authors: ter huurne j. Int J Lab Hematol. 2024 Oct 9. doi: 10.1111/ijlh.14381. Online ahead of print. Int J Lab Hematol. 2024. PMID: 39380484 No abstract available.
A mutation hotspot at the p14ARF splice site.
Harland M, Taylor CF, Chambers PA, Kukalizch K, Randerson-Moor JA, Gruis NA, de Snoo FA, ter Huurne JA, Goldstein AM, Tucker MA, Bishop DT, Bishop JA. Harland M, et al. Among authors: ter huurne ja. Oncogene. 2005 Jun 30;24(28):4604-8. doi: 10.1038/sj.onc.1208678. Oncogene. 2005. PMID: 15856016
Functional characterization of a multi-cancer risk locus on chr5p15.33 reveals regulation of TERT by ZNF148.
Fang J, Jia J, Makowski M, Xu M, Wang Z, Zhang T, Hoskins JW, Choi J, Han Y, Zhang M, Thomas J, Kovacs M, Collins I, Dzyadyk M, Thompson A, O'Neill M, Das S, Lan Q, Koster R; PanScan Consortium; TRICL Consortium; GenoMEL Consortium; Stolzenberg-Solomon RS, Kraft P, Wolpin BM, Jansen PWTC, Olson S, McGlynn KA, Kanetsky PA, Chatterjee N, Barrett JH, Dunning AM, Taylor JC, Newton-Bishop JA, Bishop DT, Andresson T, Petersen GM, Amos CI, Iles MM, Nathanson KL, Landi MT, Vermeulen M, Brown KM, Amundadottir LT. Fang J, et al. Nat Commun. 2017 May 2;8:15034. doi: 10.1038/ncomms15034. Nat Commun. 2017. PMID: 28447668 Free PMC article.
Genome-wide association study identifies novel loci predisposing to cutaneous melanoma.
Amos CI, Wang LE, Lee JE, Gershenwald JE, Chen WV, Fang S, Kosoy R, Zhang M, Qureshi AA, Vattathil S, Schacherer CW, Gardner JM, Wang Y, Bishop DT, Barrett JH; GenoMEL Investigators; MacGregor S, Hayward NK, Martin NG, Duffy DL; Q-Mega Investigators; Mann GJ, Cust A, Hopper J; AMFS Investigators; Brown KM, Grimm EA, Xu Y, Han Y, Jing K, McHugh C, Laurie CC, Doheny KF, Pugh EW, Seldin MF, Han J, Wei Q. Amos CI, et al. Hum Mol Genet. 2011 Dec 15;20(24):5012-23. doi: 10.1093/hmg/ddr415. Epub 2011 Sep 17. Hum Mol Genet. 2011. PMID: 21926416 Free PMC article.
A comparison of CDKN2A mutation detection within the Melanoma Genetics Consortium (GenoMEL).
Harland M, Goldstein AM, Kukalizch K, Taylor C, Hogg D, Puig S, Badenas C, Gruis N, ter Huurne J, Bergman W, Hayward NK, Stark M, Tsao H, Tucker MA, Landi MT, Scarra GB, Ghiorzo P, Kanetsky PA, Elder D, Mann GJ, Holland EA, Bishop DT, Bishop JN; GenoMEL, the Melanoma Genetics Consortium. Harland M, et al. Among authors: ter huurne j. Eur J Cancer. 2008 Jun;44(9):1269-74. doi: 10.1016/j.ejca.2008.03.005. Epub 2008 Apr 3. Eur J Cancer. 2008. PMID: 18394881 Free PMC article.
The melanocortin-1-receptor gene is the major freckle gene.
Bastiaens M, ter Huurne J, Gruis N, Bergman W, Westendorp R, Vermeer BJ, Bouwes Bavinck JN. Bastiaens M, et al. Among authors: ter huurne j. Hum Mol Genet. 2001 Aug 1;10(16):1701-8. doi: 10.1093/hmg/10.16.1701. Hum Mol Genet. 2001. PMID: 11487574
20 results