161 related articles for article (PubMed ID: 16802141)
1. A novel deletion in TNNI2 causes distal arthrogryposis in a large Chinese family with marked variability of expression.
Jiang M; Zhao X; Han W; Bian C; Li X; Wang G; Ao Y; Li Y; Yi D; Zhe Y; Lo WH; Zhang X; Li J
Hum Genet; 2006 Sep; 120(2):238-42. PubMed ID: 16802141
[TBL] [Abstract][Full Text] [Related]
2. Novel mutations in TPM2 and PIEZO2 are responsible for distal arthrogryposis (DA) 2B and mild DA in two Chinese families.
Li S; You Y; Gao J; Mao B; Cao Y; Zhao X; Zhang X
BMC Med Genet; 2018 Oct; 19(1):179. PubMed ID: 30285720
[TBL] [Abstract][Full Text] [Related]
3. A novel TNNI2 mutation causes Freeman-Sheldon syndrome in a Chinese family with an affected adult with only facial contractures.
Li X; Jiang M; Han W; Zhao N; Liu W; Sui Y; Lu Y; Li J
Gene; 2013 Sep; 527(2):630-5. PubMed ID: 23850728
[TBL] [Abstract][Full Text] [Related]
4. Spectrum of mutations that cause distal arthrogryposis types 1 and 2B.
Beck AE; McMillin MJ; Gildersleeve HI; Kezele PR; Shively KM; Carey JC; Regnier M; Bamshad MJ
Am J Med Genet A; 2013 Mar; 161A(3):550-5. PubMed ID: 23401156
[TBL] [Abstract][Full Text] [Related]
5. A novel mutation in TNNT3 associated with Sheldon-Hall syndrome in a Chinese family with vertical talus.
Zhao N; Jiang M; Han W; Bian C; Li X; Huang F; Kong Q; Li J
Eur J Med Genet; 2011; 54(3):351-3. PubMed ID: 21402185
[TBL] [Abstract][Full Text] [Related]
6. Molecular prenatal diagnosis for hereditary distal arthrogryposis type 2B.
Jiang M; Bian C; Li X; Man X; Ge W; Han W; Bao H; Li Y; Yi D; Guan Y; Li J
Prenat Diagn; 2007 May; 27(5):468-70. PubMed ID: 17380469
[TBL] [Abstract][Full Text] [Related]
7. A novel missense mutation of TNNI2 in a Chinese family cause distal arthrogryposis type 1.
Wang B; Zheng Z; Wang Z; Zhang X; Yang H; Cai H; Fu Q
Am J Med Genet A; 2016 Jan; 170A(1):135-41. PubMed ID: 26374086
[TBL] [Abstract][Full Text] [Related]
8. Skeletal muscle contractile gene (TNNT3, MYH3, TPM2) mutations not found in vertical talus or clubfoot.
Gurnett CA; Alaee F; Desruisseau D; Boehm S; Dobbs MB
Clin Orthop Relat Res; 2009 May; 467(5):1195-200. PubMed ID: 19142688
[TBL] [Abstract][Full Text] [Related]
9. Mutations in genes encoding fast-twitch contractile proteins cause distal arthrogryposis syndromes.
Sung SS; Brassington AM; Grannatt K; Rutherford A; Whitby FG; Krakowiak PA; Jorde LB; Carey JC; Bamshad M
Am J Hum Genet; 2003 Mar; 72(3):681-90. PubMed ID: 12592607
[TBL] [Abstract][Full Text] [Related]
10. A TNNI2 variant c.525G>T causes distal arthrogryposis in a Chinese family.
Li Y; Nong T; Li Y; Li X; Li Z; Lv H; Xu H; Li J; Zhu M
Mol Genet Genomic Med; 2022 Dec; 10(12):e2042. PubMed ID: 36069346
[TBL] [Abstract][Full Text] [Related]
11. A TNNI2 mutation in a family with distal arthrogryposis type 2B.
Shrimpton AE; Hoo JJ
Eur J Med Genet; 2006; 49(2):201-6. PubMed ID: 16497570
[TBL] [Abstract][Full Text] [Related]
12. A gain-of-function mutation in Tnni2 impeded bone development through increasing Hif3a expression in DA2B mice.
Zhu X; Wang F; Zhao Y; Yang P; Chen J; Sun H; Liu L; Li W; Pan L; Guo Y; Kou Z; Zhang Y; Zhou C; He J; Zhang X; Li J; Han W; Li J; Liu G; Gao S; Yang Z
PLoS Genet; 2014 Oct; 10(10):e1004589. PubMed ID: 25340332
[TBL] [Abstract][Full Text] [Related]
13. Distal arthrogryposis in a girl arising from a novel TNNI2 variant inherited from paternal somatic mosaicism.
Seyama R; Uchiyama Y; Kaneshi Y; Hamanaka K; Fujita A; Tsuchida N; Koshimizu E; Misawa K; Miyatake S; Mizuguchi T; Makino S; Itakura A; Okamoto N; Matsumoto N
J Hum Genet; 2023 May; 68(5):363-367. PubMed ID: 36631501
[TBL] [Abstract][Full Text] [Related]
14. A mutation of beta-tropomyosin gene in a Chinese family with distal arthrogryposis type I.
Jin JY; Wu PF; Fan LL; Yu F; Li JJ; Fan XF; Huang H; Zeng L; Tang JY; Xiang R
Int J Clin Exp Pathol; 2017; 10(11):11137-11142. PubMed ID: 31966463
[TBL] [Abstract][Full Text] [Related]
15. A MYH3 mutation identified for the first time in a Chinese family with Sheldon-Hall syndrome (DA2B).
Xu Y; Kang QL; Zhang ZL
Neuromuscul Disord; 2018 May; 28(5):456-462. PubMed ID: 29625835
[TBL] [Abstract][Full Text] [Related]
16. A mutation in the fast skeletal muscle troponin I gene causes myopathy and distal arthrogryposis.
Kimber E; Tajsharghi H; Kroksmark AK; Oldfors A; Tulinius M
Neurology; 2006 Aug; 67(4):597-601. PubMed ID: 16924011
[TBL] [Abstract][Full Text] [Related]
17. 7 Mb de novo deletion within 8q21 in a patient with distal arthrogryposis type 2B (DA2B).
Hofmann K; Becker J; Heller R; Boute O; Andrieux J; Hoyer J; Ekici AB; Reis A; Rauch A
Eur J Med Genet; 2011; 54(5):e495-500. PubMed ID: 21722758
[TBL] [Abstract][Full Text] [Related]
18. Identification of a novel pathogenic mutation of the MYH3 gene in a family with distal arthrogryposis type 2B.
Wang WB; Kong LC; Zuo RT; Kang QL
Mol Med Rep; 2020 Jan; 21(1):438-444. PubMed ID: 31746383
[TBL] [Abstract][Full Text] [Related]
19. A new distal arthrogryposis syndrome characterized by plantar flexion contractures.
Stevenson DA; Swoboda KJ; Sanders RK; Bamshad M
Am J Med Genet A; 2006 Dec; 140(24):2797-801. PubMed ID: 17103435
[TBL] [Abstract][Full Text] [Related]
20. Diagnostic work-up and phenotypic characteristics of a family with variable severity of distal arthrogryposis type 2B (Sheldon-Hall syndrome) and TNNT3 pathogenic variant.
Dabaj I; Carlier RY; Dieterich K; Desguerre I; Faure J; Romero NB; Trang W; Quijano-Roy S; Germain DP
Front Genet; 2022; 13():955041. PubMed ID: 36968005
[No Abstract] [Full Text] [Related]
[Next] [New Search]
