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1988 1
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1998 1
1999 1
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2003 4
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2005 4
2006 3
2007 2
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91 results

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Page 1
Update on genetic predisposition to colorectal cancer and polyposis.
Valle L, de Voer RM, Goldberg Y, Sjursen W, Försti A, Ruiz-Ponte C, Caldés T, Garré P, Olsen MF, Nordling M, Castellvi-Bel S, Hemminki K. Valle L, et al. Among authors: nordling m. Mol Aspects Med. 2019 Oct;69:10-26. doi: 10.1016/j.mam.2019.03.001. Epub 2019 Mar 18. Mol Aspects Med. 2019. PMID: 30862463 Free article. Review.
Application of a 5-tiered scheme for standardized classification of 2,360 unique mismatch repair gene variants in the InSiGHT locus-specific database.
Thompson BA, Spurdle AB, Plazzer JP, Greenblatt MS, Akagi K, Al-Mulla F, Bapat B, Bernstein I, Capellá G, den Dunnen JT, du Sart D, Fabre A, Farrell MP, Farrington SM, Frayling IM, Frebourg T, Goldgar DE, Heinen CD, Holinski-Feder E, Kohonen-Corish M, Robinson KL, Leung SY, Martins A, Moller P, Morak M, Nystrom M, Peltomaki P, Pineda M, Qi M, Ramesar R, Rasmussen LJ, Royer-Pokora B, Scott RJ, Sijmons R, Tavtigian SV, Tops CM, Weber T, Wijnen J, Woods MO, Macrae F, Genuardi M. Thompson BA, et al. Nat Genet. 2014 Feb;46(2):107-115. doi: 10.1038/ng.2854. Epub 2013 Dec 22. Nat Genet. 2014. PMID: 24362816 Free PMC article.
Mismatch repair gene mutation spectrum in the Swedish Lynch syndrome population.
Lagerstedt-Robinson K, Rohlin A, Aravidis C, Melin B, Nordling M, Stenmark-Askmalm M, Lindblom A, Nilbert M. Lagerstedt-Robinson K, et al. Among authors: nordling m. Oncol Rep. 2016 Nov;36(5):2823-2835. doi: 10.3892/or.2016.5060. Epub 2016 Sep 1. Oncol Rep. 2016. PMID: 27601186 Free article.
Gene-specific ACMG/AMP classification criteria for germline APC variants: Recommendations from the ClinGen InSiGHT Hereditary Colorectal Cancer/Polyposis Variant Curation Expert Panel.
Spier I, Yin X, Richardson M, Pineda M, Laner A, Ritter D, Boyle J, Mur P, Hansen TVO, Shi X, Mahmood K, Plazzer JP, Ognedal E, Nordling M, Farrington SM, Yamamoto G, Baert-Desurmont S, Martins A, Borras E, Tops C, Webb E, Beshay V, Genuardi M, Pesaran T, Capellá G, Tavtigian SV, Latchford A, Frayling IM, Plon SE, Greenblatt M, Macrae FA, Aretz S; InSiGHT-ClinGen Hereditary Colon Cancer/Polyposis Variant Curation Expert Panel. Spier I, et al. Among authors: nordling m. Genet Med. 2024 Feb;26(2):100992. doi: 10.1016/j.gim.2023.100992. Epub 2023 Oct 4. Genet Med. 2024. PMID: 37800450 Free article.
Large-scale application of ClinGen-InSiGHT APC-specific ACMG/AMP variant classification criteria leads to substantial reduction in VUS.
Yin X, Richardson M, Laner A, Shi X, Ognedal E, Vasta V, Hansen TVO, Pineda M, Ritter D, de Dunnen J, Hassanin E, Lin WL, Borras E, Krahn K, Nordling M, Martins A, Mahmood K, Nadeau E, Beshay V, Tops C, Genuardi M, Pesaran T, Frayling IM, Capellá G, Latchford A, Tavtigian SV, Maj C, Plon SE, Greenblatt MS, Macrae FA, Spier I, Aretz S. Yin X, et al. Among authors: nordling m. Am J Hum Genet. 2024 Nov 7;111(11):2427-2443. doi: 10.1016/j.ajhg.2024.09.002. Epub 2024 Oct 1. Am J Hum Genet. 2024. PMID: 39357517 Free PMC article.
Diagnostic yield and clinical impact of germline sequencing in children with CNS and extracranial solid tumors-a nationwide, prospective Swedish study.
Tesi B, Robinson KL, Abel F, Díaz de Ståhl T, Orrsjö S, Poluha A, Hellberg M, Wessman S, Samuelsson S, Frisk T, Vogt H, Henning K, Sabel M, Ek T, Pal N, Nyman P, Giraud G, Wille J, Pronk CJ, Norén-Nyström U, Borssén M, Fili M, Stålhammar G, Herold N, Tettamanti G, Maya-Gonzalez C, Arvidsson L, Rosén A, Ekholm K, Kuchinskaya E, Hallbeck AL, Nordling M, Palmebäck P, Kogner P, Smoler GK, Lähteenmäki P, Fransson S, Martinsson T, Shamik A, Mertens F, Rosenquist R, Wirta V, Tham E, Grillner P, Sandgren J, Ljungman G, Gisselsson D, Taylan F, Nordgren A. Tesi B, et al. Among authors: nordling m. Lancet Reg Health Eur. 2024 Mar 19;39:100881. doi: 10.1016/j.lanepe.2024.100881. eCollection 2024 Apr. Lancet Reg Health Eur. 2024. PMID: 38803632 Free PMC article.
Response to Yang et al.
Olkinuora A, Nieminen TT, Nordling M, Peltomäki P. Olkinuora A, et al. Among authors: nordling m. Genet Med. 2019 Nov;21(11):2652-2653. doi: 10.1038/s41436-019-0530-1. Epub 2019 May 2. Genet Med. 2019. PMID: 31043712 Free article. No abstract available.
A national long-read sequencing study on chromosomal rearrangements uncovers hidden complexities.
Eisfeldt J, Ameur A, Lenner F, Ten Berk de Boer E, Ek M, Wincent J, Vaz R, Ottosson J, Jonson T, Ivarsson S, Thunström S, Topa A, Stenberg S, Rohlin A, Sandestig A, Nordling M, Palmebäck P, Burstedt M, Nordin F, Stattin EL, Sobol M, Baliakas P, Bondeson ML, Höijer I, Saether KB, Lovmar L, Ehrencrona H, Melin M, Feuk L, Lindstrand A. Eisfeldt J, et al. Among authors: nordling m. Genome Res. 2024 Nov 20;34(11):1774-1784. doi: 10.1101/gr.279510.124. Genome Res. 2024. PMID: 39472022 Free PMC article.
Biallelic germline nonsense variant of MLH3 underlies polyposis predisposition.
Olkinuora A, Nieminen TT, Mårtensson E, Rohlin A, Ristimäki A, Koskenvuo L, Lepistö A; Swedish Extended Genetic Analysis of Colorectal Neoplasia (SWEN) Study Group; Gebre-Medhin S, Nordling M, Peltomäki P. Olkinuora A, et al. Among authors: nordling m. Genet Med. 2019 Aug;21(8):1868-1873. doi: 10.1038/s41436-018-0405-x. Epub 2018 Dec 21. Genet Med. 2019. PMID: 30573798 Free PMC article.
A mutation in POLE predisposing to a multi-tumour phenotype.
Rohlin A, Zagoras T, Nilsson S, Lundstam U, Wahlström J, Hultén L, Martinsson T, Karlsson GB, Nordling M. Rohlin A, et al. Among authors: nordling m. Int J Oncol. 2014 Jul;45(1):77-81. doi: 10.3892/ijo.2014.2410. Epub 2014 Apr 29. Int J Oncol. 2014. PMID: 24788313 Free PMC article.
91 results