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Items: 1 to 20 of 183

1.

A disorder resembling pseudoachondroplasia but without COMP mutation.

Spranger JW, Zabel B, Kennedy J, Jackson G, Briggs M.

Am J Med Genet A. 2005 Jan 1;132A(1):20-4.

PMID:
15551305
2.

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
3.

Novel and recurrent exon 13 mutations of COMP in pseudoachondroplasia.

Nakashima E, Mabuchi A, Kubota M, Ishikiriyama S, Ohashi H, Nishimura G, Ikegawa S.

Am J Med Genet A. 2005 Jan 1;132A(1):108-9. No abstract available.

PMID:
15523619
4.

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
5.

Identification of five novel mutations in cartilage oligomeric matrix protein gene in pseudoachondroplasia and multiple epiphyseal dysplasia.

Loughlin J, Irven C, Mustafa Z, Briggs MD, Carr A, Lynch SA, Knowlton RG, Cohn DH, Sykes B.

Hum Mutat. 1998;Suppl 1:S10-7. No abstract available.

PMID:
9452026
6.

Mosaicism in pseudoachondroplasia.

Ferguson HL, Deere M, Evans R, Rotta J, Hall JG, Hecht JT.

Am J Med Genet. 1997 Jun 13;70(3):287-91.

PMID:
9188668
8.

A novel COMP mutation in an Inuit patient with pseudoachondroplasia and severe short stature.

Elliott AM, Bocangel P, Reed MH, Greenberg CR.

Genet Mol Res. 2010 Sep 8;9(3):1785-90. doi: 10.4238/vol9-3gmr897.

9.

Serum or plasma cartilage oligomeric matrix protein concentration as a diagnostic marker in pseudoachondroplasia: differential diagnosis of a family.

Tufan AC, Satiroglu-Tufan NL, Jackson GC, Semerci CN, Solak S, Yagci B.

Eur J Hum Genet. 2007 Oct;15(10):1023-8. Epub 2007 Jun 20.

10.

Novel mutations of the cartilage oligomeric matrix protein (COMP) gene in two Japanese patients with pseudoachondroplasia.

Nakayama H, Endo Y, Aota S, Sato M, Fujita T, Kikuchi S.

Oncol Rep. 2003 Jul-Aug;10(4):871-3.

PMID:
12792737
11.

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
12.

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
13.

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
14.

Retention of cartilage oligomeric matrix protein (COMP) and cell death in redifferentiated pseudoachondroplasia chondrocytes.

Hecht JT, Montufar-Solis D, Decker G, Lawler J, Daniels K, Duke PJ.

Matrix Biol. 1998 Dec;17(8-9):625-33.

PMID:
9923655
15.

Role of TSP-5/COMP in pseudoachondroplasia.

Posey KL, Hayes E, Haynes R, Hecht JT.

Int J Biochem Cell Biol. 2004 Jun;36(6):1005-12. Review.

PMID:
15094116
16.

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
17.

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
18.
19.

Molecular diagnosis is important to confirm suspected pseudoachondroplasia.

Newman B, Donnah D, Briggs MD.

J Med Genet. 2000 Jan;37(1):64-5. No abstract available.

20.

Identification of novel and recurrent mutations in the calcium binding type III repeats of cartilage oligomeric matrix protein in patients with pseudoachondroplasia.

Cao LH, Wang LB, Wang SS, Ma HW, Ji CY, Luo Y.

Genet Mol Res. 2011 May 24;10(2):955-63. doi: 10.4238/vol10-2gmr1111.

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