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802 results

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Page 1
Biallelic Variants in UBA5 Link Dysfunctional UFM1 Ubiquitin-like Modifier Pathway to Severe Infantile-Onset Encephalopathy.
Muona M, Ishimura R, Laari A, Ichimura Y, Linnankivi T, Keski-Filppula R, Herva R, Rantala H, Paetau A, Pöyhönen M, Obata M, Uemura T, Karhu T, Bizen N, Takebayashi H, McKee S, Parker MJ, Akawi N, McRae J, Hurles ME; DDD Study; Kuismin O, Kurki MI, Anttonen AK, Tanaka K, Palotie A, Waguri S, Lehesjoki AE, Komatsu M. Muona M, et al. Among authors: palotie a. Am J Hum Genet. 2016 Sep 1;99(3):683-694. doi: 10.1016/j.ajhg.2016.06.020. Epub 2016 Aug 18. Am J Hum Genet. 2016. PMID: 27545674 Free PMC article.
Consistently replicating locus linked to migraine on 10q22-q23.
Anttila V, Nyholt DR, Kallela M, Artto V, Vepsäläinen S, Jakkula E, Wennerström A, Tikka-Kleemola P, Kaunisto MA, Hämäläinen E, Widén E, Terwilliger J, Merikangas K, Montgomery GW, Martin NG, Daly M, Kaprio J, Peltonen L, Färkkilä M, Wessman M, Palotie A. Anttila V, et al. Among authors: palotie a. Am J Hum Genet. 2008 May;82(5):1051-63. doi: 10.1016/j.ajhg.2008.03.003. Am J Hum Genet. 2008. PMID: 18423523 Free PMC article.
Genome-wide association study in a high-risk isolate for multiple sclerosis reveals associated variants in STAT3 gene.
Jakkula E, Leppä V, Sulonen AM, Varilo T, Kallio S, Kemppinen A, Purcell S, Koivisto K, Tienari P, Sumelahti ML, Elovaara I, Pirttilä T, Reunanen M, Aromaa A, Oturai AB, Søndergaard HB, Harbo HF, Mero IL, Gabriel SB, Mirel DB, Hauser SL, Kappos L, Polman C, De Jager PL, Hafler DA, Daly MJ, Palotie A, Saarela J, Peltonen L. Jakkula E, et al. Among authors: palotie a. Am J Hum Genet. 2010 Feb 12;86(2):285-91. doi: 10.1016/j.ajhg.2010.01.017. Am J Hum Genet. 2010. PMID: 20159113 Free PMC article.
Distinct variants at LIN28B influence growth in height from birth to adulthood.
Widén E, Ripatti S, Cousminer DL, Surakka I, Lappalainen T, Järvelin MR, Eriksson JG, Raitakari O, Salomaa V, Sovio U, Hartikainen AL, Pouta A, McCarthy MI, Osmond C, Kajantie E, Lehtimäki T, Viikari J, Kähönen M, Tyler-Smith C, Freimer N, Hirschhorn JN, Peltonen L, Palotie A. Widén E, et al. Among authors: palotie a. Am J Hum Genet. 2010 May 14;86(5):773-82. doi: 10.1016/j.ajhg.2010.03.010. Epub 2010 Apr 15. Am J Hum Genet. 2010. PMID: 20398887 Free PMC article.
The GENCODE exome: sequencing the complete human exome.
Coffey AJ, Kokocinski F, Calafato MS, Scott CE, Palta P, Drury E, Joyce CJ, Leproust EM, Harrow J, Hunt S, Lehesjoki AE, Turner DJ, Hubbard TJ, Palotie A. Coffey AJ, et al. Among authors: palotie a. Eur J Hum Genet. 2011 Jul;19(7):827-31. doi: 10.1038/ejhg.2011.28. Epub 2011 Mar 2. Eur J Hum Genet. 2011. PMID: 21364695 Free PMC article.
Phenotype mining in CNV carriers from a population cohort.
Pietiläinen OP, Rehnström K, Jakkula E, Service SK, Congdon E, Tilgmann C, Hartikainen AL, Taanila A, Heikura U, Paunio T, Ripatti S, Jarvelin MR, Isohanni M, Sabatti C, Palotie A, Freimer NB, Peltonen L. Pietiläinen OP, et al. Among authors: palotie a. Hum Mol Genet. 2011 Jul 1;20(13):2686-95. doi: 10.1093/hmg/ddr162. Epub 2011 Apr 19. Hum Mol Genet. 2011. PMID: 21505072 Free PMC article.
Detailed metabolic and genetic characterization reveals new associations for 30 known lipid loci.
Tukiainen T, Kettunen J, Kangas AJ, Lyytikäinen LP, Soininen P, Sarin AP, Tikkanen E, O'Reilly PF, Savolainen MJ, Kaski K, Pouta A, Jula A, Lehtimäki T, Kähönen M, Viikari J, Taskinen MR, Jauhiainen M, Eriksson JG, Raitakari O, Salomaa V, Järvelin MR, Perola M, Palotie A, Ala-Korpela M, Ripatti S. Tukiainen T, et al. Among authors: palotie a. Hum Mol Genet. 2012 Mar 15;21(6):1444-55. doi: 10.1093/hmg/ddr581. Epub 2011 Dec 9. Hum Mol Genet. 2012. PMID: 22156771
Novel mutations consolidate KCTD7 as a progressive myoclonus epilepsy gene.
Kousi M, Anttila V, Schulz A, Calafato S, Jakkula E, Riesch E, Myllykangas L, Kalimo H, Topçu M, Gökben S, Alehan F, Lemke JR, Alber M, Palotie A, Kopra O, Lehesjoki AE. Kousi M, et al. Among authors: palotie a. J Med Genet. 2012 Jun;49(6):391-9. doi: 10.1136/jmedgenet-2012-100859. J Med Genet. 2012. PMID: 22693283 Free PMC article.
Mutations in GDP-mannose pyrophosphorylase B cause congenital and limb-girdle muscular dystrophies associated with hypoglycosylation of α-dystroglycan.
Carss KJ, Stevens E, Foley AR, Cirak S, Riemersma M, Torelli S, Hoischen A, Willer T, van Scherpenzeel M, Moore SA, Messina S, Bertini E, Bönnemann CG, Abdenur JE, Grosmann CM, Kesari A, Punetha J, Quinlivan R, Waddell LB, Young HK, Wraige E, Yau S, Brodd L, Feng L, Sewry C, MacArthur DG, North KN, Hoffman E, Stemple DL, Hurles ME, van Bokhoven H, Campbell KP, Lefeber DJ; UK10K Consortium; Lin YY, Muntoni F. Carss KJ, et al. Am J Hum Genet. 2013 Jul 11;93(1):29-41. doi: 10.1016/j.ajhg.2013.05.009. Epub 2013 Jun 13. Am J Hum Genet. 2013. PMID: 23768512 Free PMC article.
802 results