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Items: 1 to 20 of 153

1.

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.

PMID:
11479597
2.

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.

PMID:
15459972
3.

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.

4.

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.

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.

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

6.

Diverse mutations in the gene for cartilage oligomeric matrix protein in the pseudoachondroplasia-multiple epiphyseal dysplasia disease spectrum.

Briggs MD, Mortier GR, Cole WG, King LM, Golik SS, Bonaventure J, Nuytinck L, De Paepe A, Leroy JG, Biesecker L, Lipson M, Wilcox WR, Lachman RS, Rimoin DL, Knowlton RG, Cohn DH.

Am J Hum Genet. 1998 Feb;62(2):311-9.

7.

Pseudoachondroplasia and multiple epiphyseal dysplasia due to mutations in the cartilage oligomeric matrix protein gene.

Briggs MD, Hoffman SM, King LM, Olsen AS, Mohrenweiser H, Leroy JG, Mortier GR, Rimoin DL, Lachman RS, Gaines ES, et al.

Nat Genet. 1995 Jul;10(3):330-6.

PMID:
7670472
8.

Mutation in the von Willebrand factor-A domain is not a prerequisite for the MATN3 mutation in multiple epiphyseal dysplasia.

Maeda K, Nakashima E, Horikoshi T, Mabuchi A, Ikegawa S.

Am J Med Genet A. 2005 Jul 30;136(3):285-6. No abstract available.

PMID:
15948199
9.

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.

10.

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.

Am J Med Genet A. 2004 Mar 15;125A(3):278-84.

PMID:
14994237
11.
12.

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.

PMID:
21965141
13.

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].

14.

Identification of nine novel mutations in cartilage oligomeric matrix protein in patients with pseudoachondroplasia and multiple epiphyseal dysplasia.

Deere M, Sanford T, Francomano CA, Daniels K, Hecht JT.

Am J Med Genet. 1999 Aug 27;85(5):486-90.

PMID:
10405447
15.

Multiple epiphyseal dysplasia mutations in MATN3 cause misfolding of the A-domain and prevent secretion of mutant matrilin-3.

Cotterill SL, Jackson GC, Leighton MP, Wagener R, Mäkitie O, Cole WG, Briggs MD.

Hum Mutat. 2005 Dec;26(6):557-65.

16.

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.

17.

Pseudoachondroplasia and multiple epiphyseal dysplasia: New etiologic developments.

Unger S, Hecht JT.

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

PMID:
11891674
18.

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.

PMID:
11200990
19.
20.

Multiple epiphyseal dysplasia, ribbing type: a novel point mutation in the COMP gene in a South African family.

Ballo R, Briggs MD, Cohn DH, Knowlton RG, Beighton PH, Ramesar RS.

Am J Med Genet. 1997 Feb 11;68(4):396-400. Erratum in: Am J Med Genet 1997 Sep 5;71(4):494.

PMID:
9021009

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