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Genetically defined adult-type hypolactasia and self-reported lactose intolerance as risk factors of osteoporosis in Finnish postmenopausal women.
Enattah N, Pekkarinen T, Välimäki MJ, Löyttyniemi E, Järvelä I. Enattah N, et al. Among authors: jarvela i. Eur J Clin Nutr. 2005 Oct;59(10):1105-11. doi: 10.1038/sj.ejcn.1602219. Eur J Clin Nutr. 2005. PMID: 16015262
Analysis of autism susceptibility gene loci on chromosomes 1p, 4p, 6q, 7q, 13q, 15q, 16p, 17q, 19q and 22q in Finnish multiplex families.
Auranen M, Nieminen T, Majuri S, Vanhala R, Peltonen L, Järvelä I. Auranen M, et al. Among authors: jarvela i. Mol Psychiatry. 2000 May;5(3):320-2. doi: 10.1038/sj.mp.4000708. Mol Psychiatry. 2000. PMID: 10889536
Assignment of the locus for congenital lactase deficiency to 2q21, in the vicinity of but separate from the lactase-phlorizin hydrolase gene.
Järvelä I, Enattah NS, Kokkonen J, Varilo T, Savilahti E, Peltonen L. Järvelä I, et al. Am J Hum Genet. 1998 Oct;63(4):1078-85. doi: 10.1086/302064. Am J Hum Genet. 1998. PMID: 9758622 Free PMC article.
Identification of C12orf4 as a gene for autosomal recessive intellectual disability.
Philips AK, Pinelli M, de Bie CI, Mustonen A, Määttä T, Arts HH, Wu K, Roepman R, Moilanen JS, Raza S, Varilo T, Scala G, Cocozza S, Gilissen C, van Gassen KL, Järvelä I. Philips AK, et al. Among authors: jarvela i. Clin Genet. 2017 Jan;91(1):100-105. doi: 10.1111/cge.12821. Epub 2016 Jul 12. Clin Genet. 2017. PMID: 27311568
A single PCR marker in strong allelic association with the infantile form of neuronal ceroid lipofuscinosis facilitates reliable prenatal diagnostics and disease carrier identification.
Vesa J, Hellsten E, Mäkelä TP, Järvelä I, Airaksinen T, Santavuori P, Peltonen L. Vesa J, et al. Among authors: jarvela i. Eur J Hum Genet. 1993;1(2):125-32. doi: 10.1159/000472399. Eur J Hum Genet. 1993. PMID: 7914464
Phenotype-genotype correlation in eight patients with Finnish variant late infantile NCL (CLN5).
Holmberg V, Lauronen L, Autti T, Santavuori P, Savukoski M, Uvebrant P, Hofman I, Peltonen L, Järvelä I. Holmberg V, et al. Among authors: jarvela i. Neurology. 2000 Aug 22;55(4):579-81. doi: 10.1212/wnl.55.4.579. Neurology. 2000. PMID: 10953198
Elevated lysosomal pH in neuronal ceroid lipofuscinoses (NCLs).
Holopainen JM, Saarikoski J, Kinnunen PK, Järvelä I. Holopainen JM, et al. Among authors: jarvela i. Eur J Biochem. 2001 Nov;268(22):5851-6. doi: 10.1046/j.0014-2956.2001.02530.x. Eur J Biochem. 2001. PMID: 11722572
Acid extrusion rate and pH(i) values were measured by the membrane-permeant acetoxymethyl ester of the indicator dye, 2',7'-bis(carboxyethyl)-5-(and-6)-carboxy-fluorescein (BCECF) and lysosomal pH by a spectrofluorometric assay utilizing a novel acidotropic probe, Lysosens …
Acid extrusion rate and pH(i) values were measured by the membrane-permeant acetoxymethyl ester of the indicator dye, 2',7'-bis(carbo …
The genetic variant of lactase persistence C (-13910) T as a risk factor for type I and II diabetes in the Finnish population.
Enattah NS, Forsblom C, Rasinperä H, Tuomi T, Groop PH, Järvelä I; FinnDiane Study Group. Enattah NS, et al. Among authors: jarvela i. Eur J Clin Nutr. 2004 Sep;58(9):1319-22. doi: 10.1038/sj.ejcn.1601971. Eur J Clin Nutr. 2004. PMID: 15054412
PATIENTS AND DESIGN: In all, 1455 patients with type I and 615 with type II diabetes and 446 nondiabetic controls in the Finnish population were genotyped for the C (-13910) T polymorphism by PCR minisequencing. ...CONCLUSIONS: We conclude that the C (-13910) T polymorphis …
PATIENTS AND DESIGN: In all, 1455 patients with type I and 615 with type II diabetes and 446 nondiabetic controls in the Finnish popu …
Evaluation of factor V Leiden, prothrombin and methylenetetrahydrofolate reductase gene mutations in patients with severe pregnancy complications in northern Finland.
Jarvenpaa J, Pakkila M, Savolainen ER, Perheentupa A, Jarvela I, Ryynanen M. Jarvenpaa J, et al. Among authors: jarvela i. Gynecol Obstet Invest. 2006;62(1):28-32. doi: 10.1159/000091814. Epub 2006 Mar 1. Gynecol Obstet Invest. 2006. PMID: 16514238
A biopsy-based quick test in the diagnosis of duodenal hypolactasia in upper gastrointestinal endoscopy.
Kuokkanen M, Myllyniemi M, Vauhkonen M, Helske T, Kääriäinen I, Karesvuori S, Linnala A, Härkönen M, Järvelä I, Sipponen P. Kuokkanen M, et al. Among authors: jarvela i. Endoscopy. 2006 Jul;38(7):708-12. doi: 10.1055/s-2006-925354. Epub 2006 Jun 6. Endoscopy. 2006. PMID: 16761211
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