Format
Sort by
Items per page

Send to

Choose Destination

Links from PubMed

Items: 1 to 20 of 152

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 25;527(2):630-5. doi: 10.1016/j.gene.2013.06.082. Epub 2013 Jul 11.

PMID:
23850728
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 May-Jun;54(3):351-3. doi: 10.1016/j.ejmg.2011.03.002. Epub 2011 Mar 12.

PMID:
21402185
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. Epub 2006 Jun 27.

PMID:
16802141
4.

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.

PMID:
17380469
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.

Clin Orthop Relat Res. 2009 May;467(5):1195-200. doi: 10.1007/s11999-008-0694-5. Epub 2009 Jan 14.

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.

Nat Genet. 2006 May;38(5):561-5. Epub 2006 Apr 16.

PMID:
16642020
7.

A TNNI2 mutation in a family with distal arthrogryposis type 2B.

Shrimpton AE, Hoo JJ.

Eur J Med Genet. 2006 Mar-Apr;49(2):201-6. Epub 2005 Jul 11.

PMID:
16497570
8.

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. doi: 10.1002/ajmg.a.35809. Epub 2013 Feb 7.

9.

Two novel mutations in myosin binding protein C slow causing distal arthrogryposis type 2 in two large Han Chinese families may suggest important functional role of immunoglobulin domain C2.

Li X, Zhong B, Han W, Zhao N, Liu W, Sui Y, Wang Y, Lu Y, Wang H, Li J, Jiang M.

PLoS One. 2015 Feb 13;10(2):e0117158. doi: 10.1371/journal.pone.0117158. eCollection 2015. Erratum in: PLoS One. 2015;10(5):e0125310.

10.

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 1;93(11):1045-50. doi: 10.2106/JBJS.J.02004.

11.

A variant of Freeman-Sheldon syndrome maps to 11p15.5-pter.

Krakowiak PA, O'Quinn JR, Bohnsack JF, Watkins WS, Carey JC, Jorde LB, Bamshad M.

Am J Hum Genet. 1997 Feb;60(2):426-32.

12.

Genotype-phenotype relationships in Freeman-Sheldon syndrome.

Beck AE, McMillin MJ, Gildersleeve HI, Shively KM, Tang A, Bamshad MJ.

Am J Med Genet A. 2014 Nov;164A(11):2808-13. doi: 10.1002/ajmg.a.36762. Epub 2014 Sep 25.

PMID:
25256237
13.

De novo mutations in NALCN cause a syndrome characterized by congenital contractures of the limbs and face, hypotonia, and developmental delay.

Chong JX, McMillin MJ, Shively KM, Beck AE, Marvin CT, Armenteros JR, Buckingham KJ, Nkinsi NT, Boyle EA, Berry MN, Bocian M, Foulds N, Uzielli ML, Haldeman-Englert C, Hennekam RC, Kaplan P, Kline AD, Mercer CL, Nowaczyk MJ, Klein Wassink-Ruiter JS, McPherson EW, Moreno RA, Scheuerle AE, Shashi V, Stevens CA, Carey JC, Monteil A, Lory P, Tabor HK, Smith JD, Shendure J, Nickerson DA; University of Washington Center for Mendelian Genomics., Bamshad MJ.

Am J Hum Genet. 2015 Mar 5;96(3):462-73. doi: 10.1016/j.ajhg.2015.01.003. Epub 2015 Feb 12.

14.

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.

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. doi: 10.1001/archneur.65.8.1083. Erratum in: Arch Neurol. 2008 Dec;65(12):1654.

PMID:
18695058
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 22;67(4):597-601.

PMID:
16924011
17.

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. doi: 10.1002/ajmg.a.37391. Epub 2015 Sep 16.

PMID:
26374086
18.

Clinical analysis of a variant of Freeman-Sheldon syndrome (DA2B).

Krakowiak PA, Bohnsack JF, Carey JC, Bamshad M.

Am J Med Genet. 1998 Feb 26;76(1):93-8.

PMID:
9508073
19.

Sheldon-Hall syndrome.

Toydemir RM, Bamshad MJ.

Orphanet J Rare Dis. 2009 Mar 23;4:11. doi: 10.1186/1750-1172-4-11. Review.

20.

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 Sep-Oct;54(5):e495-500. doi: 10.1016/j.ejmg.2011.06.002. Epub 2011 Jun 21.

PMID:
21722758

Supplemental Content

Support Center