Format
Sort by
Items per page

Send to

Choose Destination

Links from PubMed

Items: 14

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.

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
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.

PMID:
15503005
5.

[Progress of molecular genetic research on pseudoachon-droplasia and multiple epiphyseal dysplasia].

Wang JJ, Guo YB.

Yi Chuan. 2008 May;30(5):537-42. Review. Chinese.

PMID:
18487141
6.

COMP mutation screening as an aid for the clinical diagnosis and counselling of patients with a suspected diagnosis of pseudoachondroplasia or multiple epiphyseal dysplasia.

Kennedy J, Jackson G, Ramsden S, Taylor J, Newman W, Wright MJ, Donnai D, Elles R, Briggs MD.

Eur J Hum Genet. 2005 May;13(5):547-55. Review.

7.

Multiple epiphyseal dysplasia: clinical and radiographic features, differential diagnosis and molecular basis.

Unger S, Bonafé L, Superti-Furga A.

Best Pract Res Clin Rheumatol. 2008 Mar;22(1):19-32. doi: 10.1016/j.berh.2007.11.009. Review.

PMID:
18328978
8.

Review: clinical variability and genetic heterogeneity in multiple epiphyseal dysplasia.

Chapman KL, Briggs MD, Mortier GR.

Pediatr Pathol Mol Med. 2003 Jan-Feb;22(1):53-75. Review.

PMID:
12687890
9.

Multiple epiphyseal dysplasia.

Anthony S, Munk R, Skakun W, Masini M.

J Am Acad Orthop Surg. 2015 Mar;23(3):164-72. doi: 10.5435/JAAOS-D-13-00173. Epub 2015 Feb 9. Review. Erratum in: J Am Acad Orthop Surg. 2015 Apr;23(4):266.

PMID:
25667404
11.

The matrilins: modulators of extracellular matrix assembly.

Klatt AR, Becker AK, Neacsu CD, Paulsson M, Wagener R.

Int J Biochem Cell Biol. 2011 Mar;43(3):320-30. doi: 10.1016/j.biocel.2010.12.010. Epub 2010 Dec 14. Review.

PMID:
21163365
12.
13.

Genotype-phenotype correlation in DTDST dysplasias: Atelosteogenesis type II and diastrophic dysplasia variant in one family.

Dwyer E, Hyland J, Modaff P, Pauli RM.

Am J Med Genet A. 2010 Dec;152A(12):3043-50. doi: 10.1002/ajmg.a.33736. Review.

PMID:
21077202
14.

Genetics of osteoarthritis.

Cicuttini FM, Spector TD.

Ann Rheum Dis. 1996 Sep;55(9):665-7. Review.

Supplemental Content

Support Center