Similar articles for PMID: 20358595

Year	Number of Results
1985	1
1988	1
1993	1
1994	2
1995	2
1996	1
1997	2
1998	3
1999	5
2000	6
2001	9
2002	6
2003	6
2004	5
2005	8
2006	5
2007	2
2008	8
2009	2
2010	5
2011	3
2012	2
2013	4
2014	4
2015	2
2017	3
2018	3
2019	3
2020	6
2021	4
2022	1
2024	0

1

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. Jackson GC, et al. Am J Med Genet A. 2010 Apr;152A(4):863-9. doi: 10.1002/ajmg.a.33240. Am J Med Genet A. 2010. PMID: 20358595 Free PMC article.

2

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.

3

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.

4

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. Bönnemann CG, et al. Proc Natl Acad Sci U S A. 2000 Feb 1;97(3):1212-7. doi: 10.1073/pnas.97.3.1212. Proc Natl Acad Sci U S A. 2000. PMID: 10655510 Free PMC article.

5

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. Mortier GR, et al. Eur J Hum Genet. 2001 Aug;9(8):606-12. doi: 10.1038/sj.ejhg.5200690. Eur J Hum Genet. 2001. PMID: 11528506

6

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. Chapman KL, et al. Nat Genet. 2001 Aug;28(4):393-6. doi: 10.1038/ng573. Nat Genet. 2001. PMID: 11479597

7

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. Nakashima E, et al. Am J Med Genet A. 2005 Jan 15;132A(2):181-4. doi: 10.1002/ajmg.a.30411. Am J Med Genet A. 2005. PMID: 15551337

8

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

9

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. Holden P, et al. Am J Hum Genet. 1999 Jul;65(1):31-8. doi: 10.1086/302440. Am J Hum Genet. 1999. PMID: 10364514 Free PMC article.

10

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. Jackson GC, et al. Hum Mutat. 2012 Jan;33(1):144-57. doi: 10.1002/humu.21611. Epub 2011 Oct 31. Hum Mutat. 2012. PMID: 21922596 Free PMC article.

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My NCBI Filters

Results by year

Text availability

Article attribute

Article type

Publication date

101 results

Results by year