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A genetic and clinical study of individuals with nonsyndromic retinopathy consequent upon sequence variants in HGSNAT, the gene associated with Sanfilippo C mucopolysaccharidosis.
Schiff ER, Daich Varela M, Robson AG, Pierpoint K, Ba-Abbad R, Nutan S, Zein WM, Ullah E, Huryn LA, Tuupanen S, Mahroo OA, Michaelides M, Burke D, Harvey K, Arno G, Hufnagel RB, Webster AR. Schiff ER, et al. Among authors: tuupanen s. Am J Med Genet C Semin Med Genet. 2020 Sep;184(3):631-643. doi: 10.1002/ajmg.c.31822. Epub 2020 Aug 7. Am J Med Genet C Semin Med Genet. 2020. PMID: 32770643 Free PMC article.
Prevalence of RPGR-Mediated Retinal Dystrophy in an Unselected Cohort of Over 5000 Patients.
Tuupanen S, Gall K, Sistonen J, Saarinen I, Kämpjärvi K, Wells K, Merkkiniemi K, von Nandelstadh P, Sarantaus L, Känsäkoski J, Mårtenson E, Västinsalo H, Schleit J, Sankila EM, Kere A, Junnila H, Siivonen P, Andreevskaya M, Kytölä V, Muona M, Salmenperä P, Myllykangas S, Koskenvuo J, Alastalo TP. Tuupanen S, et al. Transl Vis Sci Technol. 2022 Jan 3;11(1):6. doi: 10.1167/tvst.11.1.6. Transl Vis Sci Technol. 2022. PMID: 34985506 Free PMC article.
Diagnostic yield of genetic testing in a heterogeneous cohort of 1376 HCM patients.
Hathaway J, Heliö K, Saarinen I, Tallila J, Seppälä EH, Tuupanen S, Turpeinen H, Kangas-Kontio T, Schleit J, Tommiska J, Kytölä V, Valori M, Muona M, Sistonen J, Gentile M, Salmenperä P, Myllykangas S, Paananen J, Alastalo TP, Heliö T, Koskenvuo J. Hathaway J, et al. Among authors: tuupanen s. BMC Cardiovasc Disord. 2021 Mar 5;21(1):126. doi: 10.1186/s12872-021-01927-5. BMC Cardiovasc Disord. 2021. PMID: 33673806 Free PMC article.
Biallelic loss-of-function in NRAP is a cause of recessive dilated cardiomyopathy.
Koskenvuo JW, Saarinen I, Ahonen S, Tommiska J, Weckström S, Seppälä EH, Tuupanen S, Kangas-Kontio T, Schleit J, Heliö K, Hathaway J, Gummesson A, Dahlberg P, Ojala TH, Vepsäläinen V, Kytölä V, Muona M, Sistonen J, Salmenperä P, Gentile M, Paananen J, Myllykangas S, Alastalo TP, Heliö T. Koskenvuo JW, et al. Among authors: tuupanen s. PLoS One. 2021 Feb 3;16(2):e0245681. doi: 10.1371/journal.pone.0245681. eCollection 2021. PLoS One. 2021. PMID: 33534821 Free PMC article.
No evidence of RET germline mutations in familial pituitary adenoma.
Heliövaara E, Tuupanen S, Ahlsten M, Hodgson S, de Menis E, Kuismin O, Izatt L, McKinlay Gardner RJ, Gundogdu S, Lucassen A, Arola J, Tuomisto A, Mäkinen M, Karhu A, Aaltonen LA. Heliövaara E, et al. Among authors: tuupanen s. J Mol Endocrinol. 2010 Dec 21;46(1):1-8. doi: 10.1677/JME-10-0052. Print 2011 Feb. J Mol Endocrinol. 2010. PMID: 20956458
Systematic search for rare variants in Finnish early-onset colorectal cancer patients.
Tanskanen T, Gylfe AE, Katainen R, Taipale M, Renkonen-Sinisalo L, Järvinen H, Mecklin JP, Böhm J, Kilpivaara O, Pitkänen E, Palin K, Vahteristo P, Tuupanen S, Aaltonen LA. Tanskanen T, et al. Among authors: tuupanen s. Cancer Genet. 2015 Jan-Feb;208(1-2):35-40. doi: 10.1016/j.cancergen.2014.12.004. Epub 2014 Dec 31. Cancer Genet. 2015. PMID: 25749350
52 results