Leena Ala-Kokko
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Explore the profile of Leena Ala-Kokko including associated specialties, affiliations and a list of published articles.
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61
Citations
1887
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Recent Articles
1.
Kroger L, Lopponen T, Ala-Kokko L, Kroger H, Jauhonen H, Lehti K, et al.
Mol Genet Genomic Med
. 2019 Jul;
7(8):e802.
PMID: 31268248
Background: MONA, which stands for a spectrum of Multicentric Osteolysis, subcutaneous Nodulosis, and Athropathia, is an ultra rare autosomal recessive disorder caused by mutations in the matrix metallopeptidase 2 (MMP2)...
2.
Skarp S, Kamarainen O, Wei G, Jakkula E, Kiviranta I, Kroger H, et al.
PLoS One
. 2018 Aug;
13(8):e0203313.
PMID: 30157244
Introduction: Osteoarthritis (OA) is the most common degenerative joint disease and one of the major causes of disability worldwide. It is a multifactorial disorder with a significant genetic component. The...
3.
Cabral W, Ishikawa M, Garten M, Makareeva E, Sargent B, Weis M, et al.
PLoS Genet
. 2016 Jul;
12(7):e1006156.
PMID: 27441836
Recessive osteogenesis imperfecta (OI) is caused by defects in proteins involved in post-translational interactions with type I collagen. Recently, a novel form of moderately severe OI caused by null mutations...
4.
Eskola P, Kjaer P, Sorensen J, Okuloff A, Wedderkopp N, Daavittila I, et al.
Int J Mol Epidemiol Genet
. 2012 Oct;
3(3):195-204.
PMID: 23050050
Objective: The purpose of the present study was to analyze the associations between specific genetic markers and early disc degeneration (DD) or early disc degeneration progression (DDP) defined by magnetic...
5.
Korvala J, Loija M, Makitie O, Sochett E, Juppner H, Schnabel D, et al.
Eur J Med Genet
. 2012 Jul;
55(10):515-9.
PMID: 22789636
Childhood-onset primary osteoporosis is manifested as reduced bone mineral density, peripheral fractures and/or vertebral compression fractures. Until now, only mutations in LRP5 have been shown to cause the disorder. Candidate...
6.
Levy B, Tegay D, Papenhausen P, Tepperberg J, Nahum O, Tsuchida T, et al.
Genet Med
. 2012 Jun;
14(9):811-8.
PMID: 22653535
Purpose: The aim of this study was to characterize the clinical phenotype of patients with tetrasomy of the distal 15q chromosome in the form of a neocentric marker chromosome and...
7.
Shanske A, Goodrich J, Ala-Kokko L, Baker S, Frederick B, Levy B
Am J Med Genet A
. 2012 May;
158A(7):1574-8.
PMID: 22639450
We report on maternal half-sibs born to unaffected, non-consanguineous parents with classical Shprintzen-Goldberg syndrome (SGS) who had in addition intestinal malrotation and an aberrant subclavian artery. In one other SGS...
8.
Korvala J, Juppner H, Makitie O, Sochett E, Schnabel D, Mora S, et al.
BMC Med Genet
. 2012 Apr;
13:26.
PMID: 22487062
Background: Primary osteoporosis is a rare childhood-onset skeletal condition whose pathogenesis has been largely unknown. We have previously shown that primary osteoporosis can be caused by heterozygous missense mutations in...
9.
Tompson S, Faqeih E, Ala-Kokko L, Hecht J, Miki R, Funari T, et al.
Am J Med Genet A
. 2012 Jan;
158A(2):309-14.
PMID: 22246659
Fibrochondrogenesis is a severe, recessively inherited skeletal dysplasia shown to result from mutations in the gene encoding the proα1(XI) chain of type XI collagen, COL11A1. The first of two cases...
10.
Shanske A, Goodrich J, Ala-Kokko L, Levy B
Clin Dysmorphol
. 2011 Dec;
21(2):69-73.
PMID: 22156914
No abstract available.