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Mutational analysis in a cohort of 224 tuberous sclerosis patients indicates increased severity of TSC2, compared with TSC1, disease in multiple organs.
Dabora SL, Jozwiak S, Franz DN, Roberts PS, Nieto A, Chung J, Choy YS, Reeve MP, Thiele E, Egelhoff JC, Kasprzyk-Obara J, Domanska-Pakiela D, Kwiatkowski DJ. Dabora SL, et al. Among authors: reeve mp. Am J Hum Genet. 2001 Jan;68(1):64-80. doi: 10.1086/316951. Epub 2000 Dec 8. Am J Hum Genet. 2001. PMID: 11112665 Free PMC article.
Data Resource Profile: Nationwide registry data for high-throughput epidemiology and machine learning (FinRegistry).
Viippola E, Kuitunen S, Rodosthenous RS, Vabalas A, Hartonen T, Vartiainen P, Demmler J, Vuorinen AL, Liu A, Havulinna AS, Llorens V, Detrois KE, Wang F, Ferro M, Karvanen A, German J, Jukarainen S, Gracia-Tabuenca J, Hiekkalinna T, Koskelainen S, Kiiskinen T, Lahtela E, Lemmelä S, Paajanen T, Siirtola H, Reeve MP, Kristiansson K, Brunfeldt M, Aavikko M, Gen F, Perola M, Ganna A; FinnGen. Viippola E, et al. Among authors: reeve mp. Int J Epidemiol. 2023 Aug 2;52(4):e195-e200. doi: 10.1093/ije/dyad091. Int J Epidemiol. 2023. PMID: 37365732 Free PMC article. No abstract available.
Genetic Risk Factors Associated With Preeclampsia and Hypertensive Disorders of Pregnancy.
Tyrmi JS, Kaartokallio T, Lokki AI, Jääskeläinen T, Kortelainen E, Ruotsalainen S, Karjalainen J, Ripatti S, Kivioja A, Laisk T, Kettunen J, Pouta A, Kivinen K, Kajantie E, Heinonen S, Kere J, Laivuori H; FINNPEC Study Group, FinnGen Project, and the Estonian Biobank Research Team. Tyrmi JS, et al. JAMA Cardiol. 2023 Jul 1;8(7):674-683. doi: 10.1001/jamacardio.2023.1312. JAMA Cardiol. 2023. PMID: 37285119 Free PMC article.
A FinnGen pilot clinical recall study for Alzheimer's disease.
Julkunen V, Schwarz C, Kalapudas J, Hallikainen M, Piironen AK, Mannermaa A, Kujala H, Laitinen T, Kosma VM, Paajanen TI, Kälviäinen R, Hiltunen M, Herukka SK, Kärkkäinen S, Kokkola T, Urjansson M; FinnGen; Perola M, Palotie A, Vuoksimaa E, Runz H. Julkunen V, et al. Sci Rep. 2023 Aug 3;13(1):12641. doi: 10.1038/s41598-023-39835-7. Sci Rep. 2023. PMID: 37537264 Free PMC article.
NTHL1 is a recessive cancer susceptibility gene.
Nurmi AK, Pelttari LM, Kiiski JI, Khan S, Nurmikolu M, Suvanto M, Aho N, Tasmuth T, Kalso E, Schleutker J, Kallioniemi A, Heikkilä P; FinnGen; Aittomäki K, Blomqvist C, Nevanlinna H. Nurmi AK, et al. Sci Rep. 2023 Nov 30;13(1):21127. doi: 10.1038/s41598-023-47441-w. Sci Rep. 2023. PMID: 38036545 Free PMC article.
Identification of the tuberous sclerosis gene TSC1 on chromosome 9q34.
van Slegtenhorst M, de Hoogt R, Hermans C, Nellist M, Janssen B, Verhoef S, Lindhout D, van den Ouweland A, Halley D, Young J, Burley M, Jeremiah S, Woodward K, Nahmias J, Fox M, Ekong R, Osborne J, Wolfe J, Povey S, Snell RG, Cheadle JP, Jones AC, Tachataki M, Ravine D, Sampson JR, Reeve MP, Richardson P, Wilmer F, Munro C, Hawkins TL, Sepp T, Ali JB, Ward S, Green AJ, Yates JR, Kwiatkowska J, Henske EP, Short MP, Haines JH, Jozwiak S, Kwiatkowski DJ. van Slegtenhorst M, et al. Among authors: reeve mp. Science. 1997 Aug 8;277(5327):805-8. doi: 10.1126/science.277.5327.805. Science. 1997. PMID: 9242607
Molecular genetic advances in tuberous sclerosis.
Cheadle JP, Reeve MP, Sampson JR, Kwiatkowski DJ. Cheadle JP, et al. Among authors: reeve mp. Hum Genet. 2000 Aug;107(2):97-114. doi: 10.1007/s004390000348. Hum Genet. 2000. PMID: 11030407 Review.
38 results