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Items: 1 to 20 of 142

1.

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
2.

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
3.

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
4.

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.

5.

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
6.

Identification of twelve mutations in cartilage oligomeric matrix protein (COMP) in patients with pseudoachondroplasia.

Deere M, Sanford T, Ferguson HL, Daniels K, Hecht JT.

Am J Med Genet. 1998 Dec 28;80(5):510-3.

PMID:
9880218
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.

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
10.
11.

COMP and Col9A3 mutations and their relationship to the pseudoachondroplasia phenotype.

Jung WW, Balce GC, Cho JW, Jung SC, Hong SJ, Song HR.

Int J Mol Med. 2010 Dec;26(6):885-91.

PMID:
21042783
12.

A novel COMP mutation in a pseudoachondroplasia family of Chinese origin.

Dai L, Xie L, Wang Y, Mao M, Li N, Zhu J, Kim C, Zhang Y.

BMC Med Genet. 2011 May 21;12:72. doi: 10.1186/1471-2350-12-72.

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
14.
15.

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.

16.

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
17.

A novel mutation of the COMP gene in a Thai family with pseudoachondroplasia.

Shotelersuk V, Punyashthiti R.

Int J Mol Med. 2002 Jan;9(1):81-4.

PMID:
11745002
18.

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
19.

Trinucleotide expansion mutations in the cartilage oligomeric matrix protein (COMP) gene.

Délot E, King LM, Briggs MD, Wilcox WR, Cohn DH.

Hum Mol Genet. 1999 Jan;8(1):123-8.

PMID:
9887340
20.

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.

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