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Items: 1 to 20 of 79

1.

A second report of p.Pro986Leu variant in COL2A1-phenotypic overlap with SEDC and other forms of type II collagenopathies.

Chung BH, Luk HM, Lo IF, Lam ST, Li RH.

Am J Med Genet A. 2013 Apr;161A(4):918-20. doi: 10.1002/ajmg.a.35793. No abstract available.

PMID:
23495189
2.

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
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.

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.

PMID:
23932928
5.

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.

6.

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
7.

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. Review.

PMID:
26443184
8.

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
9.

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.

10.

Dominant negative mutations in the C-propeptide of COL2A1 cause platyspondylic lethal skeletal dysplasia, torrance type, and define a novel subfamily within the type 2 collagenopathies.

Zankl A, Neumann L, Ignatius J, Nikkels P, Schrander-Stumpel C, Mortier G, Omran H, Wright M, Hilbert K, Bonafé L, Spranger J, Zabel B, Superti-Furga A.

Am J Med Genet A. 2005 Feb 15;133A(1):61-7.

PMID:
15643621
11.

Autosomal recessive mutations in the COL2A1 gene cause severe spondyloepiphyseal dysplasia.

Tham E, Nishimura G, Geiberger S, Horemuzova E, Nilsson D, Lindstrand A, Hammarsjö A, Armenio M, Mäkitie O, Zabel B, Nordgren A, Nordenskjöld M, Grigelioniene G.

Clin Genet. 2015 May;87(5):496-8. doi: 10.1111/cge.12466. No abstract available.

PMID:
25060605
12.

ENU-induced missense mutation in the C-propeptide coding region of Col2a1 creates a mouse model of platyspondylic lethal skeletal dysplasia, Torrance type.

Furuichi T, Masuya H, Murakami T, Nishida K, Nishimura G, Suzuki T, Imaizumi K, Kudo T, Ohkawa K, Wakana S, Ikegawa S.

Mamm Genome. 2011 Jun;22(5-6):318-28. doi: 10.1007/s00335-011-9329-3.

PMID:
21538020
13.

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.

PMID:
25604898
14.

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.

PMID:
24736929
15.

Six additional cases of SEDC due to the same and recurrent R989C mutation in the COL2A1 gene--the clinical and radiological follow-up.

Silveira KC, Bonadia LC, Superti-Furga A, Bertola DR, Jorge AA, Cavalcanti DP.

Am J Med Genet A. 2015 Apr;167A(4):894-901. doi: 10.1002/ajmg.a.36954. No abstract available.

PMID:
25735649
16.

A mouse model for spondyloepiphyseal dysplasia congenita with secondary osteoarthritis due to a Col2a1 mutation.

Esapa CT, Hough TA, Testori S, Head RA, Crane EA, Chan CP, Evans H, Bassett JH, Tylzanowski P, McNally EG, Carr AJ, Boyde A, Howell PG, Clark A, Williams GR, Brown MA, Croucher PI, Nesbit MA, Brown SD, Cox RD, Cheeseman MT, Thakker RV.

J Bone Miner Res. 2012 Feb;27(2):413-28. doi: 10.1002/jbmr.547.

17.

A type II collagen mutation also results in oto-spondylo-megaepiphyseal dysplasia.

Miyamoto Y, Nakashima E, Hiraoka H, Ohashi H, Ikegawa S.

Hum Genet. 2005 Nov;118(2):175-8.

PMID:
16189708
18.

Pathogenenic variant in the COL2A1 gene is associated with Spondyloepiphyseal dysplasia type Stanescu.

Hammarsjö A, Nordgren A, Lagerstedt-Robinson K, Malmgren H, Nilsson D, Wedrén S, Nordenskjöld M, Nishimura G, Grigelioniene G.

Am J Med Genet A. 2016 Jan;170A(1):266-9. doi: 10.1002/ajmg.a.37387. No abstract available.

PMID:
26420734
19.

Whole exome sequencing identified a novel COL2A1 mutation that causes mild Spondylo-epiphyseal dysplasia mimicking autosomal dominant brachyolmia.

Takagi M, Shimizu M, Suzuki E, Shinohara H, Narumi S, Hasegawa T, Nishimura G, Hasegawa Y.

Am J Med Genet A. 2016 Mar;170(3):795-8. doi: 10.1002/ajmg.a.37481. No abstract available.

PMID:
26586363
20.

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
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