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Items: 1 to 20 of 144

1.

Rapid molecular prenatal diagnosis of spondyloepiphyseal dysplasia congenita by PCR-SSP assay.

Cui YX, Xia XY, Bu Y, Zhou GH, Yang B, Lu HY, Shi YC, Pan LJ, Huang YF, Li XJ.

Genet Test. 2008 Dec;12(4):533-6. doi: 10.1089/gte.2008.0037.

PMID:
19072565
2.

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
3.

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
4.

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
5.

An RNA-splicing mutation (G+5IVS20) in the type II collagen gene (COL2A1) in a family with spondyloepiphyseal dysplasia congenita.

Tiller GE, Weis MA, Polumbo PA, Gruber HE, Rimoin DL, Cohn DH, Eyre DR.

Am J Hum Genet. 1995 Feb;56(2):388-95.

6.

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.

7.

[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
8.

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
9.

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.

10.

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
11.

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
12.

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
13.

Dominant mutations in the type II collagen gene, COL2A1, produce spondyloepimetaphyseal dysplasia, Strudwick type.

Tiller GE, Polumbo PA, Weis MA, Bogaert R, Lachman RS, Cohn DH, Rimoin DL, Eyre DR.

Nat Genet. 1995 Sep;11(1):87-9.

PMID:
7550321
14.

Sonographic diagnosis of SEDC and double heterozygote of SEDC and achondroplasia--a report of six pregnancies.

Chitty LS, Tan AW, Nesbit DL, Hall CM, Rodeck CH.

Prenat Diagn. 2006 Sep;26(9):861-5.

PMID:
16874841
15.

A study of the clinical and radiological features in a cohort of 93 patients with a COL2A1 mutation causing spondyloepiphyseal dysplasia congenita or a related phenotype.

Terhal PA, Nievelstein RJ, Verver EJ, Topsakal V, van Dommelen P, Hoornaert K, Le Merrer M, Zankl A, Simon ME, Smithson SF, Marcelis C, Kerr B, Clayton-Smith J, Kinning E, Mansour S, Elmslie F, Goodwin L, van der Hout AH, Veenstra-Knol HE, Herkert JC, Lund AM, Hennekam RC, Mégarbané A, Lees MM, Wilson LC, Male A, Hurst J, Alanay Y, Annerén G, Betz RC, Bongers EM, Cormier-Daire V, Dieux A, David A, Elting MW, van den Ende J, Green A, van Hagen JM, Hertel NT, Holder-Espinasse M, den Hollander N, Homfray T, Hove HD, Price S, Raas-Rothschild A, Rohrbach M, Schroeter B, Suri M, Thompson EM, Tobias ES, Toutain A, Vreeburg M, Wakeling E, Knoers NV, Coucke P, Mortier GR.

Am J Med Genet A. 2015 Mar;167A(3):461-75. doi: 10.1002/ajmg.a.36922. Epub 2015 Jan 21.

PMID:
25604898
17.

A single base mutation in the type II procollagen gene (COL2A1) that converts glycine alpha 1-247 to serine in a family with late-onset spondyloepiphyseal dysplasia.

Ritvaniemi P, Sokolov BP, Williams CJ, Considine E, Yurgenev L, Meerson EM, Ala-Kokko L, Prockop DJ.

Hum Mutat. 1994;3(3):261-7.

PMID:
8019561
18.

Structural variations in articular cartilage matrix are associated with early-onset osteoarthritis in the spondyloepiphyseal dysplasia congenita (sedc) mouse.

Macdonald DW, Squires RS, Avery SA, Adams J, Baker M, Cunningham CR, Heimann NB, Kooyman DL, Seegmiller RE.

Int J Mol Sci. 2013 Aug 9;14(8):16515-31. doi: 10.3390/ijms140816515.

19.

Kniest and Stickler dysplasia phenotypes caused by collagen type II gene (COL2A1) defect.

Winterpacht A, Hilbert M, Schwarze U, Mundlos S, Spranger J, Zabel BU.

Nat Genet. 1993 Apr;3(4):323-6.

PMID:
7981752
20.

Mutation Update for COL2A1 Gene Variants Associated with Type II Collagenopathies.

Barat-Houari M, Sarrabay G, Gatinois V, Fabre A, Dumont B, Genevieve D, Touitou I.

Hum Mutat. 2016 Jan;37(1):7-15. doi: 10.1002/humu.22915. Epub 2015 Oct 21. Review.

PMID:
26443184

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