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Page 1
New VOUS in CASK Gene Correlating with the MICPCH Phenotype.
Shelby ES, Lupu OT, Axente M, Leanca MC, Badina M, Padure L, Mirea A, Pelttari LM. Shelby ES, et al. Among authors: pelttari lm. Maedica (Bucur). 2021 Mar;16(1):135-139. doi: 10.26574/maedica.2020.16.1.135. Maedica (Bucur). 2021. PMID: 34221169 Free PMC article.
Correction to: Diagnostic utility of next-generation sequencing-based panel testing in 543 patients with suspected skeletal dysplasia.
Scocchia A, Kangas-Kontio T, Irving M, Hero M, Saarinen I, Pelttari L, Gall K, Valo S, Huusko JM, Tallila J, Sistonen J, Koskenvuo J, Alastalo TP. Scocchia A, et al. Orphanet J Rare Dis. 2022 Feb 17;17(1):59. doi: 10.1186/s13023-022-02242-8. Orphanet J Rare Dis. 2022. PMID: 35177119 Free PMC article. No abstract available.
RAD51C is a susceptibility gene for ovarian cancer.
Pelttari LM, Heikkinen T, Thompson D, Kallioniemi A, Schleutker J, Holli K, Blomqvist C, Aittomäki K, Bützow R, Nevanlinna H. Pelttari LM, et al. Hum Mol Genet. 2011 Aug 15;20(16):3278-88. doi: 10.1093/hmg/ddr229. Epub 2011 May 25. Hum Mol Genet. 2011. PMID: 21616938
Screening of HELQ in breast and ovarian cancer families.
Pelttari LM, Kinnunen L, Kiiski JI, Khan S, Blomqvist C, Aittomäki K, Nevanlinna H. Pelttari LM, et al. Fam Cancer. 2016 Jan;15(1):19-23. doi: 10.1007/s10689-015-9838-4. Fam Cancer. 2016. PMID: 26351136
Recurrent moderate-risk mutations in Finnish breast and ovarian cancer patients.
Nurmi A, Muranen TA, Pelttari LM, Kiiski JI, Heikkinen T, Lehto S, Kallioniemi A, Schleutker J, Bützow R, Blomqvist C, Aittomäki K, Nevanlinna H. Nurmi A, et al. Among authors: pelttari lm. Int J Cancer. 2019 Nov 15;145(10):2692-2700. doi: 10.1002/ijc.32309. Epub 2019 Apr 25. Int J Cancer. 2019. PMID: 30927251 Free PMC article.
Ovarian and Breast Cancer Risks Associated With Pathogenic Variants in RAD51C and RAD51D.
Yang X, Song H, Leslie G, Engel C, Hahnen E, Auber B, Horváth J, Kast K, Niederacher D, Turnbull C, Houlston R, Hanson H, Loveday C, Dolinsky JS, LaDuca H, Ramus SJ, Menon U, Rosenthal AN, Jacobs I, Gayther SA, Dicks E, Nevanlinna H, Aittomäki K, Pelttari LM, Ehrencrona H, Borg Å, Kvist A, Rivera B, Hansen TVO, Djursby M, Lee A, Dennis J, Bowtell DD, Traficante N, Diez O, Balmaña J, Gruber SB, Chenevix-Trench G, Investigators K, Jensen A, Kjær SK, Høgdall E, Castéra L, Garber J, Janavicius R, Osorio A, Golmard L, Vega A, Couch FJ, Robson M, Gronwald J, Domchek SM, Culver JO, de la Hoya M, Easton DF, Foulkes WD, Tischkowitz M, Meindl A, Schmutzler RK, Pharoah PDP, Antoniou AC. Yang X, et al. Among authors: pelttari lm. J Natl Cancer Inst. 2020 Dec 14;112(12):1242-1250. doi: 10.1093/jnci/djaa030. J Natl Cancer Inst. 2020. PMID: 32107557 Free PMC article.
Exome sequencing identifies FANCM as a susceptibility gene for triple-negative breast cancer.
Kiiski JI, Pelttari LM, Khan S, Freysteinsdottir ES, Reynisdottir I, Hart SN, Shimelis H, Vilske S, Kallioniemi A, Schleutker J, Leminen A, Bützow R, Blomqvist C, Barkardottir RB, Couch FJ, Aittomäki K, Nevanlinna H. Kiiski JI, et al. Among authors: pelttari lm. Proc Natl Acad Sci U S A. 2014 Oct 21;111(42):15172-7. doi: 10.1073/pnas.1407909111. Epub 2014 Oct 6. Proc Natl Acad Sci U S A. 2014. PMID: 25288723 Free PMC article.
54 results