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Leber congenital amaurosis: comprehensive survey of the genetic heterogeneity, refinement of the clinical definition, and genotype-phenotype correlations as a strategy for molecular diagnosis.
Hanein S, Perrault I, Gerber S, Tanguy G, Barbet F, Ducroq D, Calvas P, Dollfus H, Hamel C, Lopponen T, Munier F, Santos L, Shalev S, Zafeiriou D, Dufier JL, Munnich A, Rozet JM, Kaplan J. Hanein S, et al. Among authors: lopponen t. Hum Mutat. 2004 Apr;23(4):306-17. doi: 10.1002/humu.20010. Hum Mutat. 2004. PMID: 15024725 Free article.
Multiple founder effects and geographical clustering of BRCA1 and BRCA2 families in Finland.
Sarantaus L, Huusko P, Eerola H, Launonen V, Vehmanen P, Rapakko K, Gillanders E, Syrjäkoski K, Kainu T, Vahteristo P, Krahe R, Pääkkönen K, Hartikainen J, Blomqvist C, Löppönen T, Holli K, Ryynänen M, Bützow R, Borg A, Wasteson Arver B, Holmberg E, Mannermaa A, Kere J, Kallioniemi OP, Winqvist R, Nevanlinna H. Sarantaus L, et al. Among authors: lopponen t. Eur J Hum Genet. 2000 Oct;8(10):757-63. doi: 10.1038/sj.ejhg.5200529. Eur J Hum Genet. 2000. PMID: 11039575
Loss of DIAPH1 causes SCBMS, combined immunodeficiency, and mitochondrial dysfunction.
Kaustio M, Nayebzadeh N, Hinttala R, Tapiainen T, Åström P, Mamia K, Pernaa N, Lehtonen J, Glumoff V, Rahikkala E, Honkila M, Olsén P, Hassinen A, Polso M, Al Sukaiti N, Al Shekaili J, Al Kindi M, Al Hashmi N, Almusa H, Bulanova D, Haapaniemi E, Chen P, Suo-Palosaari M, Vieira P, Tuominen H, Kokkonen H, Al Macki N, Al Habsi H, Löppönen T, Rantala H, Pietiäinen V, Zhang SY, Renko M, Hautala T, Al Farsi T, Uusimaa J, Saarela J. Kaustio M, et al. Among authors: lopponen t. J Allergy Clin Immunol. 2021 Aug;148(2):599-611. doi: 10.1016/j.jaci.2020.12.656. Epub 2021 Mar 1. J Allergy Clin Immunol. 2021. PMID: 33662367 Free article. Clinical Trial.
Analysis of neurodevelopmental outcomes of preadolescents born with extremely low weight revealed impairments in multiple developmental domains despite absence of cognitive impairment.
Tommiska V, Lano A, Kleemola P, Klenberg L, Lehtonen L, Löppönen T, Olsen P, Tammela O, Fellman V; Finnish ELBW Cohort Study Group (FinELBW). Tommiska V, et al. Among authors: lopponen t. Health Sci Rep. 2020 Aug 19;3(3):e180. doi: 10.1002/hsr2.180. eCollection 2020 Sep. Health Sci Rep. 2020. PMID: 32832703 Free PMC article.
Mutations in the PP2A regulatory subunit B family genes PPP2R5B, PPP2R5C and PPP2R5D cause human overgrowth.
Loveday C, Tatton-Brown K, Clarke M, Westwood I, Renwick A, Ramsay E, Nemeth A, Campbell J, Joss S, Gardner M, Zachariou A, Elliott A, Ruark E, van Montfort R; Childhood Overgrowth Collaboration; Rahman N. Loveday C, et al. Hum Mol Genet. 2015 Sep 1;24(17):4775-9. doi: 10.1093/hmg/ddv182. Epub 2015 May 13. Hum Mol Genet. 2015. PMID: 25972378 Free PMC article.
Atypical phenotypes in titinopathies explained by second titin mutations.
Evilä A, Vihola A, Sarparanta J, Raheem O, Palmio J, Sandell S, Eymard B, Illa I, Rojas-Garcia R, Hankiewicz K, Negrão L, Löppönen T, Nokelainen P, Kärppä M, Penttilä S, Screen M, Suominen T, Richard I, Hackman P, Udd B. Evilä A, et al. Among authors: lopponen t. Ann Neurol. 2014 Feb;75(2):230-40. doi: 10.1002/ana.24102. Epub 2014 Feb 24. Ann Neurol. 2014. PMID: 24395473
Connexin 26 mutations and nonsyndromic hearing impairment in northern Finland.
Löppönen T, Väisänen ML, Luotonen M, Allinen M, Uusimaa J, Lindholm P, Mäki-Torkko E, Väyrynen M, Löppönen H, Leisti J. Löppönen T, et al. Among authors: lopponen h. Laryngoscope. 2003 Oct;113(10):1758-63. doi: 10.1097/00005537-200310000-00018. Laryngoscope. 2003. PMID: 14520102
31 results