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Mutations in LRP5 cause primary osteoporosis without features of OI by reducing Wnt signaling activity.

Korvala J, Jüppner H, Mäkitie O, Sochett E, Schnabel D, Mora S, Bartels CF, Warman ML, Deraska D, Cole WG, Hartikka H, Ala-Kokko L, Männikkö M.

BMC Med Genet. 2012 Apr 10;13:26. doi: 10.1186/1471-2350-13-26.


Genetic predisposition for femoral neck stress fractures in military conscripts.

Korvala J, Hartikka H, Pihlajamäki H, Solovieva S, Ruohola JP, Sahi T, Barral S, Ott J, Ala-Kokko L, Männikkö M.

BMC Genet. 2010 Oct 21;11:95. doi: 10.1186/1471-2156-11-95.


Mobile phone use and location of glioma: a case-case analysis.

Hartikka H, Heinävaara S, Mäntylä R, Kähärä V, Kurttio P, Auvinen A.

Bioelectromagnetics. 2009 Apr;30(3):176-82. doi: 10.1002/bem.20471.


Consortium for osteogenesis imperfecta mutations in the helical domain of type I collagen: regions rich in lethal mutations align with collagen binding sites for integrins and proteoglycans.

Marini JC, Forlino A, Cabral WA, Barnes AM, San Antonio JD, Milgrom S, Hyland JC, Körkkö J, Prockop DJ, De Paepe A, Coucke P, Symoens S, Glorieux FH, Roughley PJ, Lund AM, Kuurila-Svahn K, Hartikka H, Cohn DH, Krakow D, Mottes M, Schwarze U, Chen D, Yang K, Kuslich C, Troendle J, Dalgleish R, Byers PH.

Hum Mutat. 2007 Mar;28(3):209-21. Review.


Heterozygous mutations in the LDL receptor-related protein 5 (LRP5) gene are associated with primary osteoporosis in children.

Hartikka H, Mäkitie O, Männikkö M, Doria AS, Daneman A, Cole WG, Ala-Kokko L, Sochett EB.

J Bone Miner Res. 2005 May;20(5):783-9. Epub 2005 Jan 4.


Lack of correlation between the type of COL1A1 or COL1A2 mutation and hearing loss in osteogenesis imperfecta patients.

Hartikka H, Kuurila K, Körkkö J, Kaitila I, Grénman R, Pynnönen S, Hyland JC, Ala-Kokko L.

Hum Mutat. 2004 Aug;24(2):147-54. Erratum in: Hum Mutat. 2004 Nov;24(5):437.

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