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Results: 1 to 20 of 561

1.

Multilayered patella: similar radiographic findings in pseudoachondroplasia and recessive multiple epiphyseal dysplasia.

Vatanavicharn N, Lachman RS, Rimoin DL.

Am J Med Genet A. 2008 Jul 1;146A(13):1682-6. doi: 10.1002/ajmg.a.32313.

PMID:
18546327
[PubMed - indexed for MEDLINE]
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.

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

PMID:
11565064
[PubMed - indexed for MEDLINE]
Free PMC Article
3.

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
[PubMed - indexed for MEDLINE]
4.

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.

PMID:
21922596
[PubMed - indexed for MEDLINE]
Free PMC Article
5.

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
[PubMed - indexed for MEDLINE]
6.

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
[PubMed - indexed for MEDLINE]
7.

Novel types of COMP mutations and genotype-phenotype association in pseudoachondroplasia and multiple epiphyseal dysplasia.

Mabuchi A, Manabe N, Haga N, Kitoh H, Ikeda T, Kawaji H, Tamai K, Hamada J, Nakamura S, Brunetti-Pierri N, Kimizuka M, Takatori Y, Nakamura K, Nishimura G, Ohashi H, Ikegawa S.

Hum Genet. 2003 Jan;112(1):84-90. Epub 2002 Oct 29.

PMID:
12483304
[PubMed - indexed for MEDLINE]
8.

Pseudoachondroplasia and multiple epiphyseal dysplasia: mutation review, molecular interactions, and genotype to phenotype correlations.

Briggs MD, Chapman KL.

Hum Mutat. 2002 May;19(5):465-78. Review.

PMID:
11968079
[PubMed - indexed for MEDLINE]
9.

Autosomal recessive multiple epiphyseal dysplasia with homozygosity for C653S in the DTDST gene: double-layer patella as a reliable sign.

Mäkitie O, Savarirayan R, Bonafé L, Robertson S, Susic M, Superti-Furga A, Cole WG.

Am J Med Genet A. 2003 Oct 15;122A(3):187-92.

PMID:
12966518
[PubMed - indexed for MEDLINE]
10.

Multiple epiphyseal dysplasia and pseudoachondroplasia due to novel mutations in the calmodulin-like repeats of cartilage oligomeric matrix protein.

Susic S, McGrory J, Ahier J, Cole WG.

Clin Genet. 1997 Apr;51(4):219-24.

PMID:
9184241
[PubMed - indexed for MEDLINE]
11.

Recessive multiple epiphyseal dysplasia (rMED) with homozygosity for C653S mutation in the DTDST gene--phenotype, molecular diagnosis and surgical treatment of habitual dislocation of multilayered patella: case report.

Hinrichs T, Superti-Furga A, Scheiderer WD, Bonafé L, Brenner RE, Mattes T.

BMC Musculoskelet Disord. 2010 Jun 3;11:110. doi: 10.1186/1471-2474-11-110.

PMID:
20525296
[PubMed - indexed for MEDLINE]
Free PMC Article
12.

Double heterozygosity for pseudoachondroplasia and spondyloepiphyseal dysplasia congenita.

Unger S, Korkko J, Krakow D, Lachman RS, Rimoin DL, Cohn DH.

Am J Med Genet. 2001 Nov 22;104(2):140-6.

PMID:
11746045
[PubMed - indexed for MEDLINE]
14.

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].

PMID:
15523498
[PubMed - indexed for MEDLINE]
Free Article
15.

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
[PubMed - indexed for MEDLINE]
16.

Mutations in cartilage oligomeric matrix protein causing pseudoachondroplasia and multiple epiphyseal dysplasia affect binding of calcium and collagen I, II, and IX.

Thur J, Rosenberg K, Nitsche DP, Pihlajamaa T, Ala-Kokko L, Heinegård D, Paulsson M, Maurer P.

J Biol Chem. 2001 Mar 2;276(9):6083-92. Epub 2000 Nov 17.

PMID:
11084047
[PubMed - indexed for MEDLINE]
Free Article
17.

A compound heterozygote of novel and recurrent DTDST mutations results in a novel intermediate phenotype of Desbuquois dysplasia, diastrophic dysplasia, and recessive form of multiple epiphyseal dysplasia.

Miyake A, Nishimura G, Futami T, Ohashi H, Chiba K, Toyama Y, Furuichi T, Ikegawa S.

J Hum Genet. 2008;53(8):764-8. doi: 10.1007/s10038-008-0305-z. Epub 2008 Jun 14.

PMID:
18553123
[PubMed - indexed for MEDLINE]
18.

Novel and recurrent COMP (cartilage oligomeric matrix protein) mutations in pseudoachondroplasia and multiple epiphyseal dysplasia.

Ikegawa S, Ohashi H, Nishimura G, Kim KC, Sannohe A, Kimizuka M, Fukushima Y, Nagai T, Nakamura Y.

Hum Genet. 1998 Dec;103(6):633-8.

PMID:
9921895
[PubMed - indexed for MEDLINE]
19.

COMP mutations: domain-dependent relationship between abnormal chondrocyte trafficking and clinical PSACH and MED phenotypes.

Chen TL, Posey KL, Hecht JT, Vertel BM.

J Cell Biochem. 2008 Feb 15;103(3):778-87.

PMID:
17570134
[PubMed - indexed for MEDLINE]
20.

Recessively inherited multiple epiphyseal dysplasia with normal stature, club foot, and double layered patella caused by a DTDST mutation.

Superti-Furga A, Neumann L, Riebel T, Eich G, Steinmann B, Spranger J, Kunze J.

J Med Genet. 1999 Aug;36(8):621-4.

PMID:
10465113
[PubMed - indexed for MEDLINE]
Free PMC Article

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