119 related articles for article (PubMed ID: 25735649)
1. 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. PubMed ID: 25735649
[No Abstract] [Full Text] [Related]
2. 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]
3. 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]
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. PubMed ID: 23932928
[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. 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]
7. 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]
8. 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]
9. 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]
10. 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]
11. Mutation-based growth charts for SEDC and other COL2A1 related dysplasias.
Terhal PA; van Dommelen P; Le Merrer M; Zankl A; Simon ME; Smithson SF; Marcelis C; Kerr B; Kinning E; Mansour S; Hennekam RC; van der Hout AH; Cormier-Daire V; Lund AM; Goodwin L; Mégarbané A; Lees M; Betz RC; Tobias ES; Coucke P; Mortier GR
Am J Med Genet C Semin Med Genet; 2012 Aug; 160C(3):205-16. PubMed ID: 22791362
[TBL] [Abstract][Full Text] [Related]
12. A Heterozygous Mutation in the Triple Helical Region of the Alpha 1 (II) Chain of the COL2A1 Protein Causes Non-Lethal Spondyloepiphyseal Dysplasia Congenita.
Almatrafi A; Alfadhli F; Khan YN; Afzal S; Hashmi JA; Ullah A; Albalawi AM; Basit S
Genet Test Mol Biomarkers; 2019 May; 23(5):310-315. PubMed ID: 30932712
[No Abstract] [Full Text] [Related]
13. 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. PubMed ID: 16874841
[TBL] [Abstract][Full Text] [Related]
14. 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. PubMed ID: 23495189
[No Abstract] [Full Text] [Related]
15. Identification of COL2A1 mutations in platyspondylic skeletal dysplasia, Torrance type.
Nishimura G; Nakashima E; Mabuchi A; Shimamoto K; Shimamoto T; Shimao Y; Nagai T; Yamaguchi T; Kosaki R; Ohashi H; Makita Y; Ikegawa S
J Med Genet; 2004 Jan; 41(1):75-9. PubMed ID: 14729840
[No Abstract] [Full Text] [Related]
16. COL2A1 mutation as a cause of premature osteoarthritis in a 13-year-old child.
Lankisch P; Hönscheid A; Schaper J; Borkhardt A; Laws HJ
Joint Bone Spine; 2014 Jan; 81(1):83-5. PubMed ID: 23928235
[TBL] [Abstract][Full Text] [Related]
17. 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]
18. 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]
19. 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]
20. [Kniest dysplasia due to mutation of COL2A1 gene].
Wu M; Liu L; Zhou Z; Sheng H; Yin X; Li X; Cheng J; Huang Y; Cai Y; Li C; Fan L; Liu H
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2015 Jun; 32(3):323-6. PubMed ID: 26037341
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
