Jakkula E - Search Results

1

A recurrent R718W mutation in COMP results in multiple epiphyseal dysplasia with mild myopathy: clinical and pathogenetic overlap with collagen IX mutations.

Jakkula E, Lohiniva J, Capone A, Bonafe L, Marti M, Schuster V, Giedion A, Eich G, Boltshauser E, Ala-Kokko L, Superti-Furga A. Jakkula E, et al. J Med Genet. 2003 Dec;40(12):942-8. doi: 10.1136/jmg.40.12.942. J Med Genet. 2003. PMID: 14684695 Free PMC article. No abstract available.

2

Missense mutations in the beta strands of the single A-domain of matrilin-3 result in multiple epiphyseal dysplasia.

Jackson GC, Barker FS, Jakkula E, Czarny-Ratajczak M, Mäkitie O, Cole WG, Wright MJ, Smithson SF, Suri M, Rogala P, Mortier GR, Baldock C, Wallace A, Elles R, Ala-Kokko L, Briggs MD. Jackson GC, et al. Among authors: jakkula e. J Med Genet. 2004 Jan;41(1):52-9. doi: 10.1136/jmg.2003.011429. J Med Genet. 2004. PMID: 14729835 Free PMC article. No abstract available.

3

Clinical and radiographic findings in multiple epiphyseal dysplasia caused by MATN3 mutations: description of 12 patients.

Mäkitie O, Mortier GR, Czarny-Ratajczak M, Wright MJ, Suri M, Rogala P, Freund M, Jackson GC, Jakkula E, Ala-Kokko L, Briggs MD, Cole WG. Mäkitie O, et al. Among authors: jakkula e. Am J Med Genet A. 2004 Mar 15;125A(3):278-84. doi: 10.1002/ajmg.a.20486. Am J Med Genet A. 2004. PMID: 14994237

4

The role of sequence variations within the genes encoding collagen II, IX and XI in non-syndromic, early-onset osteoarthritis.

Jakkula E, Melkoniemi M, Kiviranta I, Lohiniva J, Räinä SS, Perälä M, Warman ML, Ahonen K, Kröger H, Göring HH, Ala-Kokko L. Jakkula E, et al. Osteoarthritis Cartilage. 2005 Jun;13(6):497-507. doi: 10.1016/j.joca.2005.02.005. Osteoarthritis Cartilage. 2005. PMID: 15922184 Free article.

5

Mutations in the known genes are not the major cause of MED; distinctive phenotypic entities among patients with no identified mutations.

Jakkula E, Mäkitie O, Czarny-Ratajczak M, Jackson GC, Damignani R, Susic M, Briggs MD, Cole WG, Ala-Kokko L. Jakkula E, et al. Eur J Hum Genet. 2005 Mar;13(3):292-301. doi: 10.1038/sj.ejhg.5201314. Eur J Hum Genet. 2005. PMID: 15523498

6

Targeted re-sequencing of linkage region on 2q21 identifies a novel functional variant for hip and knee osteoarthritis.

Taipale M, Jakkula E, Kämäräinen OP, Gao P, Skarp S, Barral S, Kiviranta I, Kröger H, Ott J, Wei GH, Ala-Kokko L, Männikkö M. Taipale M, et al. Among authors: jakkula e. Osteoarthritis Cartilage. 2016 Apr;24(4):655-63. doi: 10.1016/j.joca.2015.10.019. Epub 2015 Nov 19. Osteoarthritis Cartilage. 2016. PMID: 26603474 Free article.

7

Genetic variations in IL6 associate with intervertebral disc disease characterized by sciatica.

Noponen-Hietala N, Virtanen I, Karttunen R, Schwenke S, Jakkula E, Li H, Merikivi R, Barral S, Ott J, Karppinen J, Ala-Kokko L. Noponen-Hietala N, et al. Among authors: jakkula e. Pain. 2005 Mar;114(1-2):186-94. doi: 10.1016/j.pain.2004.12.015. Epub 2005 Jan 22. Pain. 2005. PMID: 15733644

8

Whole exome sequencing in Finnish families identifies new candidate genes for osteoarthritis.

Skarp S, Kämäräinen OP, Wei GH, Jakkula E, Kiviranta I, Kröger H, Auvinen J, Lehenkari P, Ala-Kokko L, Männikkö M. Skarp S, et al. Among authors: jakkula e. PLoS One. 2018 Aug 29;13(8):e0203313. doi: 10.1371/journal.pone.0203313. eCollection 2018. PLoS One. 2018. PMID: 30157244 Free PMC article.

9

Novel mutations consolidate KCTD7 as a progressive myoclonus epilepsy gene.

Kousi M, Anttila V, Schulz A, Calafato S, Jakkula E, Riesch E, Myllykangas L, Kalimo H, Topçu M, Gökben S, Alehan F, Lemke JR, Alber M, Palotie A, Kopra O, Lehesjoki AE. Kousi M, et al. Among authors: jakkula e. J Med Genet. 2012 Jun;49(6):391-9. doi: 10.1136/jmedgenet-2012-100859. J Med Genet. 2012. PMID: 22693283 Free PMC article.

10

Recessive MYH3 variants cause "Contractures, pterygia, and variable skeletal fusions syndrome 1B" mimicking Escobar variant multiple pterygium syndrome.

Hakonen AH, Lehtonen J, Kivirikko S, Keski-Filppula R, Moilanen J, Kivisaari R, Almusa H, Jakkula E, Saarela J, Avela K, Aittomäki K. Hakonen AH, et al. Among authors: jakkula e. Am J Med Genet A. 2020 Nov;182(11):2605-2610. doi: 10.1002/ajmg.a.61836. Epub 2020 Sep 9. Am J Med Genet A. 2020. PMID: 32902138

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