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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. Among authors: lohiniva j. 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.
COL9A3: A third locus for multiple epiphyseal dysplasia.
Paassilta P, Lohiniva J, Annunen S, Bonaventure J, Le Merrer M, Pai L, Ala-Kokko L. Paassilta P, et al. Among authors: lohiniva j. Am J Hum Genet. 1999 Apr;64(4):1036-44. doi: 10.1086/302328. Am J Hum Genet. 1999. PMID: 10090888 Free PMC article.
A mutation in COL9A1 causes multiple epiphyseal dysplasia: further evidence for locus heterogeneity.
Czarny-Ratajczak M, Lohiniva J, Rogala P, Kozlowski K, Perälä M, Carter L, Spector TD, Kolodziej L, Seppänen U, Glazar R, Królewski J, Latos-Bielenska A, Ala-Kokko L. Czarny-Ratajczak M, et al. Among authors: lohiniva j. Am J Hum Genet. 2001 Nov;69(5):969-80. doi: 10.1086/324023. Epub 2001 Sep 14. Am J Hum Genet. 2001. PMID: 11565064 Free PMC article.
Identification of a novel common genetic risk factor for lumbar disk disease.
Paassilta P, Lohiniva J, Göring HH, Perälä M, Räinä SS, Karppinen J, Hakala M, Palm T, Kröger H, Kaitila I, Vanharanta H, Ott J, Ala-Kokko L. Paassilta P, et al. Among authors: lohiniva j. JAMA. 2001 Apr 11;285(14):1843-9. doi: 10.1001/jama.285.14.1843. JAMA. 2001. PMID: 11308397
An allele of COL9A2 associated with intervertebral disc disease.
Annunen S, Paassilta P, Lohiniva J, Perälä M, Pihlajamaa T, Karppinen J, Tervonen O, Kröger H, Lähde S, Vanharanta H, Ryhänen L, Göring HH, Ott J, Prockop DJ, Ala-Kokko L. Annunen S, et al. Among authors: lohiniva j. Science. 1999 Jul 16;285(5426):409-12. doi: 10.1126/science.285.5426.409. Science. 1999. PMID: 10411504
11 results