196 related articles for article (PubMed ID: 1971141)
1. 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. PubMed ID: 1971141
[TBL] [Abstract][Full Text] [Related]
2. Mild spondyloepiphyseal dysplasia (Namaqualand type): genetic linkage to the type II collagen gene COL2A1.
Sher C; Ramesar R; Martell R; Learmonth I; Tsipouras P; Beighton P
Am J Hum Genet; 1991 Mar; 48(3):518-24. PubMed ID: 1671807
[TBL] [Abstract][Full Text] [Related]
3. 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]
4. Spondyloepiphyseal dysplasia in a Cape Town family: linkage with the gene for type II collagen (COL2A1).
Ramesar R; Beighton P
Am J Med Genet; 1992 Jul; 43(5):833-8. PubMed ID: 1353665
[TBL] [Abstract][Full Text] [Related]
5. 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]
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. PubMed ID: 1978986
[TBL] [Abstract][Full Text] [Related]
7. 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]
8. 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]
9. 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. PubMed ID: 7550321
[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. 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]
12. Novel COL2A1 variants in Japanese patients with spondyloepiphyseal dysplasia congenita.
Akahira-Azuma M; Enomoto Y; Nakamura N; Yokoi T; Minatogawa M; Harada N; Tsurusaki Y; Kurosawa K
Hum Genome Var; 2022 May; 9(1):16. PubMed ID: 35581182
[TBL] [Abstract][Full Text] [Related]
13. Discovery of sensorineural hearing loss and ossicle deformity in a Chinese Li nationality family with spondyloepiphyseal dysplasia congenita caused by p.G504S mutation of COL2A1.
Wu K; Li Z; Zhu Y; Wang X; Chen G; Hou Z; Zhang Q
BMC Med Genomics; 2021 Jun; 14(1):170. PubMed ID: 34182999
[TBL] [Abstract][Full Text] [Related]
14. Linkage studies of a Missouri kindred with autosomal dominant spondyloepimetaphyseal dysplasia (SEMD) indicate genetic heterogeneity.
Gertner JM; Whyte MP; Dixon PH; Pang JT; Trump D; Pearce SH; Wooding C; Thakker RV
J Bone Miner Res; 1997 Aug; 12(8):1204-9. PubMed ID: 9258750
[TBL] [Abstract][Full Text] [Related]
15. 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]
16. 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. PubMed ID: 17920052
[TBL] [Abstract][Full Text] [Related]
17. The Stickler syndrome: evidence for close linkage to the structural gene for type II collagen.
Francomano CA; Liberfarb RM; Hirose T; Maumenee IH; Streeten EA; Meyers DA; Pyeritz RE
Genomics; 1987 Dec; 1(4):293-6. PubMed ID: 2896625
[TBL] [Abstract][Full Text] [Related]
18. 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]
19. 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]
20. 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. PubMed ID: 7847372
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]