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Results: 1 to 20 of 99

1.

A report of an Indian boy with a delayed diagnosis of pseudochondroplasia.

Singh A, Abiramalatha T, Pradhan G, Jin DK, Kapoor S.

J Clin Diagn Res. 2013 Jul;7(7):1479-81. doi: 10.7860/JCDR/2013/5410.3167. Epub 2013 Jul 1.

PMID:
23998101
[PubMed]
Free PMC Article
2.

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.

PMID:
9463320
[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.

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]
5.

A mouse model offers novel insights into the myopathy and tendinopathy often associated with pseudoachondroplasia and multiple epiphyseal dysplasia.

Piróg KA, Jaka O, Katakura Y, Meadows RS, Kadler KE, Boot-Handford RP, Briggs MD.

Hum Mol Genet. 2010 Jan 1;19(1):52-64. doi: 10.1093/hmg/ddp466. Epub .

PMID:
19808781
[PubMed - indexed for MEDLINE]
Free PMC Article
6.

Circulating COMP is decreased in pseudoachondroplasia and multiple epiphyseal dysplasia patients carrying COMP mutations.

Mabuchi A, Momohara S, Ohashi H, Takatori Y, Haga N, Nishimura G, Ikegawa S.

Am J Med Genet A. 2004 Aug 15;129A(1):35-8.

PMID:
15266613
[PubMed - indexed for MEDLINE]
7.

Identification of cartilage oligomeric matrix protein (COMP) gene mutations in patients with pseudoachondroplasia and multiple epiphyseal dysplasia.

Song HR, Lee KS, Li QW, Koo SK, Jung SC.

J Hum Genet. 2003;48(5):222-5. Epub 2003 Apr 24.

PMID:
12768438
[PubMed - indexed for MEDLINE]
8.

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.

PMID:
15756302
[PubMed - indexed for MEDLINE]
Free PMC Article
9.

Genotype to phenotype correlations in cartilage oligomeric matrix protein associated chondrodysplasias.

Briggs MD, Brock J, Ramsden SC, Bell PA.

Eur J Hum Genet. 2014 Nov;22(11):1278-82. doi: 10.1038/ejhg.2014.30. Epub 2014 Mar 5.

PMID:
24595329
[PubMed - in process]
Free PMC Article
10.

COMP mutations, chondrocyte function and cartilage matrix.

Hecht JT, Hayes E, Haynes R, Cole WG.

Matrix Biol. 2005 Jan;23(8):525-33. Epub 2004 Nov 18.

PMID:
15694129
[PubMed - indexed for MEDLINE]
11.

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]
12.

Novel and recurrent mutations in the C-terminal domain of COMP cluster in two distinct regions and result in a spectrum of phenotypes within the pseudoachondroplasia -- multiple epiphyseal dysplasia disease group.

Kennedy J, Jackson GC, Barker FS, Nundlall S, Bella J, Wright MJ, Mortier GR, Neas K, Thompson E, Elles R, Briggs MD.

Hum Mutat. 2005 Jun;25(6):593-4.

PMID:
15880723
[PubMed - indexed for MEDLINE]
13.

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]
14.

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
15.

[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
[PubMed - indexed for MEDLINE]
16.

Novel mutation in exon 18 of the cartilage oligomeric matrix protein gene causes a severe pseudoachondroplasia.

Mabuchi A, Haga N, Ikeda T, Manabe N, Ohashi H, Takatori Y, Nakamura K, Ikegawa S.

Am J Med Genet. 2001 Nov 22;104(2):135-9.

PMID:
11746044
[PubMed - indexed for MEDLINE]
17.

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
[PubMed - indexed for MEDLINE]
18.

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]
19.

Mild myopathy is associated with COMP but not MATN3 mutations in mouse models of genetic skeletal diseases.

Piróg KA, Katakura Y, Mironov A, Briggs MD.

PLoS One. 2013 Nov 27;8(11):e82412. doi: 10.1371/journal.pone.0082412. eCollection 2013.

PMID:
24312420
[PubMed - indexed for MEDLINE]
Free PMC Article
20.

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

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