Format
Sort by
Items per page

Send to

Choose Destination

Links from PubMed

Items: 1 to 20 of 194

1.

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
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.

3.

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
4.

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
5.

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
6.

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
8.

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
9.

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
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.

Hum Mutat. 2012 Jan;33(1):144-57. doi: 10.1002/humu.21611. Epub 2011 Oct 31.

11.

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
12.
13.
14.

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
15.

Identification of three novel mutations in the COL2A1 gene in four unrelated Chinese families with spondyloepiphyseal dysplasia congenita.

Zhang Z, He JW, Fu WZ, Zhang CQ, Zhang ZL.

Biochem Biophys Res Commun. 2011 Oct 7;413(4):504-8. doi: 10.1016/j.bbrc.2011.08.090. Epub 2011 Sep 6.

PMID:
21924244
16.

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
17.

A novel mutation in the COL2A1 gene in a Chinese family with Spondyloepiphyseal dysplasia congenita.

Li S, Zhou H, Qin H, Guo H, Bai Y.

Joint Bone Spine. 2014 Jan;81(1):86-9. doi: 10.1016/j.jbspin.2013.06.010. Epub 2013 Aug 9.

PMID:
23932928
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.

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
20.

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

Supplemental Content

Support Center