154 related articles for article (PubMed ID: 15076581)
1. 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. PubMed ID: 15076581
[TBL] [Abstract][Full Text] [Related]
2. 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. PubMed ID: 23932928
[TBL] [Abstract][Full Text] [Related]
3. 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; 413(4):504-8. PubMed ID: 21924244
[TBL] [Abstract][Full Text] [Related]
4. A novel COL2A1 mutation causing spondyloepiphyseal dysplasia congenita in a Chinese family.
Zhou T; Yang X; Chen Z; Zhou Y; Cao X; Zhao C; Zhao J
J Clin Lab Anal; 2021 Apr; 35(4):e23728. PubMed ID: 33590889
[TBL] [Abstract][Full Text] [Related]
5. 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. PubMed ID: 25604898
[TBL] [Abstract][Full Text] [Related]
6. 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; 104(2):140-6. PubMed ID: 11746045
[TBL] [Abstract][Full Text] [Related]
7. Novel variants in COL2A1 causing rare spondyloepiphyseal dysplasia congenita.
Zheng WB; Li LJ; Zhao DC; Wang O; Jiang Y; Xia WB; Xing XP; Li M
Mol Genet Genomic Med; 2020 Mar; 8(3):e1139. PubMed ID: 31972903
[TBL] [Abstract][Full Text] [Related]
8. 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. PubMed ID: 12968670
[TBL] [Abstract][Full Text] [Related]
9. Novel COL2A1 mutations causing spondyloepiphyseal dysplasia congenita in three unrelated Chinese families.
Liu L; Pang Q; Jiang Y; Li M; Wang O; Xia W
Eur Spine J; 2016 Sep; 25(9):2967-74. PubMed ID: 27059630
[TBL] [Abstract][Full Text] [Related]
10. 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. PubMed ID: 17509551
[No Abstract] [Full Text] [Related]
11. 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. PubMed ID: 25900302
[TBL] [Abstract][Full Text] [Related]
12. 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; 11(4):4130-7. PubMed ID: 23079993
[TBL] [Abstract][Full Text] [Related]
13. 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; 10(6):e0127529. PubMed ID: 26030151
[TBL] [Abstract][Full Text] [Related]
14. The Managment of cervical spine abnormalities in children with spondyloepiphyseal dysplasia congenita: Observational study.
Al Kaissi A; Ryabykh S; Pavlova OM; Ochirova P; Kenis V; Chehida FB; Ganger R; Grill F; Kircher SG
Medicine (Baltimore); 2019 Jan; 98(1):e13780. PubMed ID: 30608389
[TBL] [Abstract][Full Text] [Related]
15. 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. PubMed ID: 25967556
[TBL] [Abstract][Full Text] [Related]
16. 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. PubMed ID: 12205109
[TBL] [Abstract][Full Text] [Related]
17. 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; 137A(3):292-7. PubMed ID: 16088915
[TBL] [Abstract][Full Text] [Related]
18. Clinical and Molecular Characterization and Discovery of Novel Genetic Mutations of Chinese Patients with
Xu Y; Li L; Wang C; Yue H; Zhang H; Gu J; Hu W; Liu L; Zhang Z
Int J Biol Sci; 2020; 16(5):859-868. PubMed ID: 32071555
[No Abstract] [Full Text] [Related]
19. [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. PubMed ID: 25863096
[TBL] [Abstract][Full Text] [Related]
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. PubMed ID: 16957471
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
