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Items: 1 to 20 of 195

1.

A first familial G504S mutation of COL2A1 gene results in distinctive spondyloepiphyseal dysplasia congenita.

Xia X, Cui Y, Huang Y, Pan L, Wu Y, Zhang P, Jin B.

Clin Chim Acta. 2007 Jul;382(1-2):148-50. Epub 2007 Apr 14. No abstract available.

PMID:
17509551
2.

Spondyloepiphyseal dysplasia congenita with absent femoral head.

Jung SC, Mathew S, Li QW, Lee YJ, Lee KS, Song HR.

J Pediatr Orthop B. 2004 Mar;13(2):63-9.

PMID:
15076581
3.

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
4.

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
5.

Novel and recurrent COL2A1 mutations in Chinese patients with spondyloepiphyseal dysplasia.

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

Genet Mol Res. 2012 Dec 3;11(4):4130-7. doi: 10.4238/2012.September.27.1.

6.

Spondyloepiphyseal dysplasia, mild autosomal dominant type is not due to primary defects of type II collagen.

Anderson IJ, Tsipouras P, Scher C, Ramesar RS, Martell RW, Beighton P.

Am J Med Genet. 1990 Oct;37(2):272-6.

PMID:
1978986
7.

Novel amino acid substitution in the Y-position of collagen type II causes spondyloepimetaphyseal dysplasia congenita.

Sulko J, Czarny-Ratajczak M, Wozniak A, Latos-Bielenska A, Kozlowski K.

Am J Med Genet A. 2005 Sep 1;137A(3):292-7.

PMID:
16088915
8.

A form of autosomal dominant spondyloepiphyseal dysplasia is caused by a glycine to alanine substitution in the COL2A1 gene.

Sellick GS, Hoornaert KP, Mortier GR, King C, Dolling CL, Newbury-Ecob RA, Gargan M, Hall CM, Houlston RS, Smithson SF.

Clin Dysmorphol. 2006 Oct;15(4):197-202.

PMID:
16957471
9.

A novel mutation in COL2A1 leading to spondyloepiphyseal dysplasia congenita in a three-generation family.

Xu L, Qiu X, Zhu Z, Yi L, Qiu Y.

Eur Spine J. 2014 May;23 Suppl 2:271-7. doi: 10.1007/s00586-014-3292-0. Epub 2014 Apr 16.

PMID:
24736929
10.

Association of a p.Pro786Leu variant in COL2A1 with mild spondyloepiphyseal dysplasia congenita in a three-generation family.

Mark PR, Torres-Martinez W, Lachman RS, Weaver DD.

Am J Med Genet A. 2011 Jan;155A(1):174-9. doi: 10.1002/ajmg.a.33762.

PMID:
21204228
11.

[Identification of a novel mutation of COL2A1 gene in a Chinese family affected with spondyloepiphyseal dysplasia congenita].

Li H, Ji A, Ma L, Wang B, Li Y, Cui Y.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2015 Apr;32(2):240-4. doi: 10.3760/cma.j.issn.1003-9406.2015.02.020. Chinese.

PMID:
25863096
12.

Vitreoretinopathy with phalangeal epiphyseal dysplasia, a type II collagenopathy resulting from a novel mutation in the C-propeptide region of the molecule.

Richards AJ, Morgan J, Bearcroft PW, Pickering E, Owen MJ, Holmans P, Williams N, Tysoe C, Pope FM, Snead MP, Hughes H.

J Med Genet. 2002 Sep;39(9):661-5.

13.
14.

A missense mutation in the mouse Col2a1 gene causes spondyloepiphyseal dysplasia congenita, hearing loss, and retinoschisis.

Donahue LR, Chang B, Mohan S, Miyakoshi N, Wergedal JE, Baylink DJ, Hawes NL, Rosen CJ, Ward-Bailey P, Zheng QY, Bronson RT, Johnson KR, Davisson MT.

J Bone Miner Res. 2003 Sep;18(9):1612-21. Erratum in: J Bone Miner Res. 2007 Dec;22(12):2011.

15.

Spondyloepiphyseal dysplasia congenita: genetic linkage to type II collagen (COL2AI).

Anderson IJ, Goldberg RB, Marion RW, Upholt WB, Tsipouras P.

Am J Hum Genet. 1990 May;46(5):896-901.

16.

Spondyloepiphyseal dysplasia congenita caused by double heterozygous mutations in COL2A1.

Kawano O, Nakamura A, Morikawa S, Uetake K, Ishizu K, Tajima T.

Am J Med Genet A. 2015 Jul;167(7):1578-81. doi: 10.1002/ajmg.a.37073. Epub 2015 Apr 21.

PMID:
25900302
17.

Identification of a Novel Mutation in the COL2A1 Gene in a Chinese Family with Spondyloepiphyseal Dysplasia Congenita.

Huang X, Deng X, Xu H, Wu S, Yuan L, Yang Z, Yang Y, Deng H.

PLoS One. 2015 Jun 1;10(6):e0127529. doi: 10.1371/journal.pone.0127529. eCollection 2015.

18.

Molecular prenatal diagnosis in 2 pregnancies at risk for spondyloepiphyseal dysplasia congenita.

Xia XY, Cui YX, Huang YF, Pan LJ, Feng Y, Yang B, Li XJ, Zhu PY, Shi YC, Liang Q.

Clin Chim Acta. 2008 Jan;387(1-2):153-7. Epub 2007 Sep 18.

PMID:
17920052
19.

Identification of a novel mutation of the COL2A1 gene in a Chinese family with spondyloepiphyseal dysplasia congenita.

Li H, Ma L, Wang B, Cui Y, Xiao T.

Eur Spine J. 2015 Aug;24(8):1813-9. doi: 10.1007/s00586-015-3999-6. Epub 2015 May 13.

PMID:
25967556
20.

Dutch variant of Bellini metaphyseal dysplasia: report of two siblings.

Kozlowski K, Meradji M, Beemer FA.

Australas Radiol. 1995 Aug;39(3):282-6. Review.

PMID:
7487766
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