252 related articles for article (PubMed ID: 23850728)
1. 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]
2. 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]
3. 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]
4. 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]
5. Mutations in embryonic myosin heavy chain (MYH3) cause Freeman-Sheldon syndrome and Sheldon-Hall syndrome.
Toydemir RM; Rutherford A; Whitby FG; Jorde LB; Carey JC; Bamshad MJ
Nat Genet; 2006 May; 38(5):561-5. PubMed ID: 16642020
[TBL] [Abstract][Full Text] [Related]
6. 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]
7. 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]
8. A novel pathogenic MYH3 mutation in a child with Sheldon-Hall syndrome and vertebral fusions.
Scala M; Accogli A; De Grandis E; Allegri A; Bagowski CP; Shoukier M; Maghnie M; Capra V
Am J Med Genet A; 2018 Mar; 176(3):663-667. PubMed ID: 29314551
[TBL] [Abstract][Full Text] [Related]
9. 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]
10. 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]
11. 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]
12. 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]
13. Drosophila myosin mutants model the disparate severity of type 1 and type 2B distal arthrogryposis and indicate an enhanced actin affinity mechanism.
Guo Y; Kronert WA; Hsu KH; Huang A; Sarsoza F; Bell KM; Suggs JA; Swank DM; Bernstein SI
Skelet Muscle; 2020 Aug; 10(1):24. PubMed ID: 32799913
[TBL] [Abstract][Full Text] [Related]
14. 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]
15. Embryonic myosin heavy-chain mutations cause distal arthrogryposis and developmental myosin myopathy that persists postnatally.
Tajsharghi H; Kimber E; Kroksmark AK; Jerre R; Tulinius M; Oldfors A
Arch Neurol; 2008 Aug; 65(8):1083-90. PubMed ID: 18695058
[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. Exome sequencing identifies an MYH3 mutation in a family with distal arthrogryposis type 1.
Alvarado DM; Buchan JG; Gurnett CA; Dobbs MB
J Bone Joint Surg Am; 2011 Jun; 93(11):1045-50. PubMed ID: 21531865
[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. Myosin heavy chain mutations that cause Freeman-Sheldon syndrome lead to muscle structural and functional defects in Drosophila.
Das S; Kumar P; Verma A; Maiti TK; Mathew SJ
Dev Biol; 2019 May; 449(2):90-98. PubMed ID: 30826400
[TBL] [Abstract][Full Text] [Related]
20. 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]
[Next] [New Search]
