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Type IX collagen gene mutations can result in multiple epiphyseal dysplasia that is associated with osteochondritis dissecans and a mild myopathy.

Jackson GC, Marcus-Soekarman D, Stolte-Dijkstra I, Verrips A, Taylor JA, Briggs MD.

Am J Med Genet A. 2010 Apr;152A(4):863-9. doi: 10.1002/ajmg.a.33240.


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.

Am J Hum Genet. 2001 Nov;69(5):969-80. Epub 2001 Sep 14.


COL9A3: A third locus for multiple epiphyseal dysplasia.

Paassilta P, Lohiniva J, Annunen S, Bonaventure J, Le Merrer M, Pai L, Ala-Kokko L.

Am J Hum Genet. 1999 Apr;64(4):1036-44. Erratum in: Am J Hum Genet 1999 Oct;65(4):1214.


A mutation in the alpha 3 chain of type IX collagen causes autosomal dominant multiple epiphyseal dysplasia with mild myopathy.

Bönnemann CG, Cox GF, Shapiro F, Wu JJ, Feener CA, Thompson TG, Anthony DC, Eyre DR, Darras BT, Kunkel LM.

Proc Natl Acad Sci U S A. 2000 Feb 1;97(3):1212-7.


Clinical and radiographic features of multiple epiphyseal dysplasia not linked to the COMP or type IX collagen genes.

Mortier GR, Chapman K, Leroy JL, Briggs MD.

Eur J Hum Genet. 2001 Aug;9(8):606-12.


Mutations in the region encoding the von Willebrand factor A domain of matrilin-3 are associated with multiple epiphyseal dysplasia.

Chapman KL, Mortier GR, Chapman K, Loughlin J, Grant ME, Briggs MD.

Nat Genet. 2001 Aug;28(4):393-6.


Novel COL9A3 mutation in a family with multiple epiphyseal dysplasia.

Nakashima E, Kitoh H, Maeda K, Haga N, Kosaki R, Mabuchi A, Nishimura G, Ohashi H, Ikegawa S.

Am J Med Genet A. 2005 Jan 15;132A(2):181-4.


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.

Am J Med Genet. 2000 Jan 31;90(3):216-22.


Identification of novel pro-alpha2(IX) collagen gene mutations in two families with distinctive oligo-epiphyseal forms of multiple epiphyseal dysplasia.

Holden P, Canty EG, Mortier GR, Zabel B, Spranger J, Carr A, Grant ME, Loughlin JA, Briggs MD.

Am J Hum Genet. 1999 Jul;65(1):31-8.


Pseudoachondroplasia and multiple epiphyseal dysplasia: a 7-year comprehensive analysis of the known disease genes identify novel and recurrent mutations and provides an accurate assessment of their relative contribution.

Jackson GC, Mittaz-Crettol L, Taylor JA, Mortier GR, Spranger J, Zabel B, Le Merrer M, Cormier-Daire V, Hall CM, Offiah A, Wright MJ, Savarirayan R, Nishimura G, Ramsden SC, Elles R, Bonafe L, Superti-Furga A, Unger S, Zankl A, Briggs MD.

Hum Mutat. 2012 Jan;33(1):144-57. doi: 10.1002/humu.21611. Epub 2011 Oct 31.


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.

Pediatr Radiol. 2001 Jan;31(1):10-8.


Revisit of multiple epiphyseal dysplasia: ethnic difference in genotypes and comparison of radiographic features linked to the COMP and MATN3 genes.

Kim OH, Park H, Seong MW, Cho TJ, Nishimura G, Superti-Furga A, Unger S, Ikegawa S, Choi IH, Song HR, Kim HW, Yoo WJ, Shim JS, Chung CY, Oh CW, Jeong C, Song KS, Seo SG, Cho SI, Yeo IK, Kim SY, Park S, Park SS.

Am J Med Genet A. 2011 Nov;155A(11):2669-80. doi: 10.1002/ajmg.a.34246. Epub 2011 Sep 30.


Pseudoachondroplasia and multiple epiphyseal dysplasia: New etiologic developments.

Unger S, Hecht JT.

Am J Med Genet. 2001 Winter;106(4):244-50. Review.


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.

Eur J Hum Genet. 2005 Mar;13(3):292-301. Erratum in: Eur J Hum Genet. 2005 Oct;13(10):1166. Czarny-Ratacjzak, Malwina [corrected to Czarny-Ratajczak, Malwina].


Novel COL9A3 mutation in a family diagnosed with multiple epiphyseal dysplasia: a case report.

Jeong C, Lee JY, Kim J, Chae H, Park HI, Kim M, Kim OH, Kim P, Lee YK, Jung J.

BMC Musculoskelet Disord. 2014 Nov 8;15:371. doi: 10.1186/1471-2474-15-371.


Novel and recurrent mutations clustered in the von Willebrand factor A domain of MATN3 in multiple epiphyseal dysplasia.

Mabuchi A, Haga N, Maeda K, Nakashima E, Manabe N, Hiraoka H, Kitoh H, Kosaki R, Nishimura G, Ohashi H, Ikegawa S.

Hum Mutat. 2004 Nov;24(5):439-40.


Multiple epiphyseal dysplasia.

Dahlqvist J, Orlén H, Matsson H, Dahl N, Lönnerholm T, Gustavson KH.

Acta Orthop. 2009 Dec;80(6):711-5. doi: 10.3109/17453670903473032.


Comprehensive screening of multiple epiphyseal dysplasia mutations in Japanese population.

Itoh T, Shirahama S, Nakashima E, Maeda K, Haga N, Kitoh H, Kosaki R, Ohashi H, Nishimura G, Ikegawa S.

Am J Med Genet A. 2006 Jun 15;140(12):1280-4.


MED, COMP, multilayered and NEIN: an overview of multiple epiphyseal dysplasia.

Lachman RS, Krakow D, Cohn DH, Rimoin DL.

Pediatr Radiol. 2005 Feb;35(2):116-23. Epub 2004 Oct 21. Review.


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