Similar articles for PMID: 29314551

Year	Number of Results
1980	1
1982	1
1986	1
1995	1
1997	1
1998	1
2003	2
2005	2
2006	5
2007	5
2008	7
2009	5
2010	3
2011	7
2012	4
2013	7
2014	9
2015	9
2016	8
2017	10
2018	8
2019	12
2020	13
2021	10
2022	9
2023	3
2024	0

1

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. Scala M, et al. Am J Med Genet A. 2018 Mar;176(3):663-667. doi: 10.1002/ajmg.a.38593. Epub 2018 Jan 5. Am J Med Genet A. 2018. PMID: 29314551 Review.

2

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. Li X, et al. Gene. 2013 Sep 25;527(2):630-5. doi: 10.1016/j.gene.2013.06.082. Epub 2013 Jul 11. Gene. 2013. PMID: 23850728

3

Sheldon-Hall syndrome.

Toydemir RM, Bamshad MJ. Toydemir RM, et al. Orphanet J Rare Dis. 2009 Mar 23;4:11. doi: 10.1186/1750-1172-4-11. Orphanet J Rare Dis. 2009. PMID: 19309503 Free PMC article. Review.

4

A MYH3 mutation identified for the first time in a Chinese family with Sheldon-Hall syndrome (DA2B).

Xu Y, Kang QL, Zhang ZL. Xu Y, et al. Neuromuscul Disord. 2018 May;28(5):456-462. doi: 10.1016/j.nmd.2018.03.002. Epub 2018 Mar 8. Neuromuscul Disord. 2018. PMID: 29625835

5

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. Gurnett CA, et al. Clin Orthop Relat Res. 2009 May;467(5):1195-200. doi: 10.1007/s11999-008-0694-5. Epub 2009 Jan 14. Clin Orthop Relat Res. 2009. PMID: 19142688 Free PMC article.

6

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. Toydemir RM, et al. Nat Genet. 2006 May;38(5):561-5. doi: 10.1038/ng1775. Epub 2006 Apr 16. Nat Genet. 2006. PMID: 16642020

7

First Korean family with a mutation in TPM2 associated with Sheldon-Hall syndrome.

Ko JM, Choi IH, Baek GH, Kim KW. Ko JM, et al. J Korean Med Sci. 2013 May;28(5):780-3. doi: 10.3346/jkms.2013.28.5.780. Epub 2013 May 2. J Korean Med Sci. 2013. PMID: 23678273 Free PMC article.

8

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. Tajsharghi H, et al. Arch Neurol. 2008 Aug;65(8):1083-90. doi: 10.1001/archneur.65.8.1083. Arch Neurol. 2008. PMID: 18695058

9

Genotype-phenotype relationships in Freeman-Sheldon syndrome.

Beck AE, McMillin MJ, Gildersleeve HI, Shively KM, Tang A, Bamshad MJ. Beck AE, et al. Am J Med Genet A. 2014 Nov;164A(11):2808-13. doi: 10.1002/ajmg.a.36762. Epub 2014 Sep 25. Am J Med Genet A. 2014. PMID: 25256237

10

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. Wang WB, et al. Mol Med Rep. 2020 Jan;21(1):438-444. doi: 10.3892/mmr.2019.10820. Epub 2019 Nov 15. Mol Med Rep. 2020. PMID: 31746383

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My NCBI Filters

Results by year

Text availability

Article attribute

Article type

Publication date

123 results

Results by year