Ala-Kokko L - 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

Splicing mutations in the COL3 domain of collagen IX cause multiple epiphyseal dysplasia.

Lohiniva J, Paassilta P, Seppänen U, Vierimaa O, Kivirikko S, Ala-Kokko L. Lohiniva J, et al. Am J Med Genet. 2000 Jan 31;90(3):216-22. Am J Med Genet. 2000. PMID: 10678658

3

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. 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.

4

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. 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

5

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. Am J Hum Genet. 1999 Apr;64(4):1036-44. doi: 10.1086/302328. Am J Hum Genet. 1999. PMID: 10090888 Free PMC article.

6

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. 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.

7

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.

8

Multiple epiphyseal dysplasia: radiographic abnormalities correlated with genotype.

Unger SL, Briggs MD, Holden P, Zabel B, Ala-Kokko L, Paassilta P, Lohiniva J, Rimoin DL, Lachman RS, Cohn DH. Unger SL, et al. Pediatr Radiol. 2001 Jan;31(1):10-8. doi: 10.1007/s002470000362. Pediatr Radiol. 2001. PMID: 11200990

9

Heterozygous glycine substitution in the COL11A2 gene in the original patient with the Weissenbacher-Zweymüller syndrome demonstrates its identity with heterozygous OSMED (nonocular Stickler syndrome).

Pihlajamaa T, Prockop DJ, Faber J, Winterpacht A, Zabel B, Giedion A, Wiesbauer P, Spranger J, Ala-Kokko L. Pihlajamaa T, et al. Am J Med Genet. 1998 Nov 2;80(2):115-20. doi: 10.1002/(sici)1096-8628(19981102)80:2<115::aid-ajmg5>3.0.co;2-o. Am J Med Genet. 1998. PMID: 9805126

10

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

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