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X-exome sequencing in Finnish families with intellectual disability--four novel mutations and two novel syndromic phenotypes.
Philips AK, Sirén A, Avela K, Somer M, Peippo M, Ahvenainen M, Doagu F, Arvio M, Kääriäinen H, Van Esch H, Froyen G, Haas SA, Hu H, Kalscheuer VM, Järvelä I. Philips AK, et al. Among authors: siren a. Orphanet J Rare Dis. 2014 Apr 11;9:49. doi: 10.1186/1750-1172-9-49. Orphanet J Rare Dis. 2014. PMID: 24721225 Free PMC article.
Exome sequencing reveals predominantly de novo variants in disorders with intellectual disability (ID) in the founder population of Finland.
Järvelä I, Määttä T, Acharya A, Leppälä J, Jhangiani SN, Arvio M, Siren A, Kankuri-Tammilehto M, Kokkonen H, Palomäki M, Varilo T, Fang M, Hadley TD, Jolly A, Linnankivi T, Paetau R, Saarela A, Kälviäinen R, Olme J, Nouel-Saied LM, Cornejo-Sanchez DM, Llaci L, Lupski JR, Posey JE, Leal SM, Schrauwen I. Järvelä I, et al. Among authors: siren a. Hum Genet. 2021 Jul;140(7):1011-1029. doi: 10.1007/s00439-021-02268-1. Epub 2021 Mar 12. Hum Genet. 2021. PMID: 33710394 Free PMC article.
Signs indicating dementia in Down, Williams and Fragile X syndromes.
Sauna-Aho O, Bjelogrlic-Laakso N, Siren A, Arvio M. Sauna-Aho O, et al. Among authors: siren a. Mol Genet Genomic Med. 2018 Sep;6(5):855-860. doi: 10.1002/mgg3.430. Epub 2018 Jul 3. Mol Genet Genomic Med. 2018. PMID: 29971948 Free PMC article. Clinical Trial.
Cognition in adults with Williams syndrome-A 20-year follow-up study.
Sauna-Aho O, Bjelogrlic-Laakso N, Sirén A, Kangasmäki V, Arvio M. Sauna-Aho O, et al. Among authors: siren a. Mol Genet Genomic Med. 2019 Jun;7(6):e695. doi: 10.1002/mgg3.695. Epub 2019 Apr 29. Mol Genet Genomic Med. 2019. PMID: 31033253 Free PMC article.
A new locus for familial temporal lobe epilepsy on chromosome 3q.
Chahine L, Abou-Khalil B, Siren A, Andermann F, Hedera P, Ge Q, Andermann E, Pandolfo M. Chahine L, et al. Among authors: siren a. Epilepsy Res. 2013 Oct;106(3):338-44. doi: 10.1016/j.eplepsyres.2013.07.007. Epub 2013 Aug 14. Epilepsy Res. 2013. PMID: 24021842
Evaluation of CACNA1H in European patients with childhood absence epilepsy.
Chioza B, Everett K, Aschauer H, Brouwer O, Callenbach P, Covanis A, Dulac O, Durner M, Eeg-Olofsson O, Feucht M, Friis M, Heils A, Kjeldsen M, Larsson K, Lehesjoki AE, Nabbout R, Olsson I, Sander T, Sirén A, Robinson R, Rees M, Gardiner RM. Chioza B, et al. Among authors: siren a. Epilepsy Res. 2006 May;69(2):177-81. doi: 10.1016/j.eplepsyres.2006.01.009. Epub 2006 Feb 28. Epilepsy Res. 2006. PMID: 16504478 Free article.
218 results