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Page 1
Congenital hydrocephalus: new Mendelian mutations and evidence for oligogenic inheritance.
Jacquemin V, Versbraegen N, Duerinckx S, Massart A, Soblet J, Perazzolo C, Deconinck N, Brischoux-Boucher E, De Leener A, Revencu N, Janssens S, Moorgat S, Blaumeiser B, Avela K, Touraine R, Abou Jaoude I, Keymolen K, Saugier-Veber P, Lenaerts T, Abramowicz M, Pirson I. Jacquemin V, et al. Among authors: avela k. Hum Genomics. 2023 Mar 2;17(1):16. doi: 10.1186/s40246-023-00464-w. Hum Genomics. 2023. PMID: 36859317 Free PMC article.
Phenotypic spectrum associated with a CRADD founder variant underlying frontotemporal predominant pachygyria in the Finnish population.
Polla DL, Rahikkala E, Bode MK, Määttä T, Varilo T, Loman T, Philips AK, Kurki M, Palotie A, Körkkö J, Vieira P, Avela K, Jacquemin V, Pirson I, Abramowicz M, de Brouwer APM, Kuismin O, van Bokhoven H, Järvelä I. Polla DL, et al. Among authors: avela k. Eur J Hum Genet. 2019 Aug;27(8):1235-1243. doi: 10.1038/s41431-019-0383-8. Epub 2019 Mar 26. Eur J Hum Genet. 2019. PMID: 30914828 Free PMC article.
Correction: Phenotypic spectrum associated with a CRADD founder variant underlying frontotemporal predominant pachygyria in the Finnish population.
Polla DL, Rahikkala E, Bode MK, Määttä T, Varilo T, Loman T, Philips AK, Kurki M, Palotie A, Körkkö J, Vieira P, Avela K, Jacquemin V, Pirson I, Abramowicz M, de Brouwer APM, Kuismin O, van Bokhoven H, Järvelä I. Polla DL, et al. Among authors: avela k. Eur J Hum Genet. 2020 Apr;28(4):532. doi: 10.1038/s41431-019-0491-5. Eur J Hum Genet. 2020. PMID: 31506600 Free PMC article.
Novel mutations in the TRIM37 gene in Mulibrey Nanism.
Hämäläinen RH, Avela K, Lambert JA, Kallijärvi J, Eyaid W, Gronau J, Ignaszewski AP, McFadden D, Sorge G, Lipsanen-Nyman M, Lehesjoki AE. Hämäläinen RH, et al. Among authors: avela k. Hum Mutat. 2004 May;23(5):522. doi: 10.1002/humu.9233. Hum Mutat. 2004. PMID: 15108285
Genetic evidence of heterogeneity in intrahepatic cholestasis of pregnancy.
Savander M, Ropponen A, Avela K, Weerasekera N, Cormand B, Hirvioja ML, Riikonen S, Ylikorkala O, Lehesjoki AE, Williamson C, Aittomäki K. Savander M, et al. Among authors: avela k. Gut. 2003 Jul;52(7):1025-9. doi: 10.1136/gut.52.7.1025. Gut. 2003. PMID: 12801961 Free PMC article.
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: avela k. 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.
Variants in CUL4B are associated with cerebral malformations.
Vulto-van Silfhout AT, Nakagawa T, Bahi-Buisson N, Haas SA, Hu H, Bienek M, Vissers LE, Gilissen C, Tzschach A, Busche A, Müsebeck J, Rump P, Mathijssen IB, Avela K, Somer M, Doagu F, Philips AK, Rauch A, Baumer A, Voesenek K, Poirier K, Vigneron J, Amram D, Odent S, Nawara M, Obersztyn E, Lenart J, Charzewska A, Lebrun N, Fischer U, Nillesen WM, Yntema HG, Järvelä I, Ropers HH, de Vries BB, Brunner HG, van Bokhoven H, Raymond FL, Willemsen MA, Chelly J, Xiong Y, Barkovich AJ, Kalscheuer VM, Kleefstra T, de Brouwer AP. Vulto-van Silfhout AT, et al. Among authors: avela k. Hum Mutat. 2015 Jan;36(1):106-17. doi: 10.1002/humu.22718. Hum Mutat. 2015. PMID: 25385192 Free PMC article.
41 results