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Results: 1 to 20 of 137

1.

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.

PMID:
21531865
[PubMed - indexed for MEDLINE]
Free PMC Article
2.

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.

PMID:
19142688
[PubMed - indexed for MEDLINE]
Free PMC Article
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 25;527(2):630-5. doi: 10.1016/j.gene.2013.06.082. Epub 2013 Jul 11.

PMID:
23850728
[PubMed - indexed for MEDLINE]
4.

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
[PubMed - indexed for MEDLINE]
5.

Mutations in PIEZO2 cause Gordon syndrome, Marden-Walker syndrome, and distal arthrogryposis type 5.

McMillin MJ, Beck AE, Chong JX, Shively KM, Buckingham KJ, Gildersleeve HI, Aracena MI, Aylsworth AS, Bitoun P, Carey JC, Clericuzio CL, Crow YJ, Curry CJ, Devriendt K, Everman DB, Fryer A, Gibson K, Giovannucci Uzielli ML, Graham JM Jr, Hall JG, Hecht JT, Heidenreich RA, Hurst JA, Irani S, Krapels IP, Leroy JG, Mowat D, Plant GT, Robertson SP, Schorry EK, Scott RH, Seaver LH, Sherr E, Splitt M, Stewart H, Stumpel C, Temel SG, Weaver DD, Whiteford M, Williams MS, Tabor HK, Smith JD, Shendure J, Nickerson DA; University of Washington Center for Mendelian Genomics, Bamshad MJ.

Am J Hum Genet. 2014 May 1;94(5):734-44. doi: 10.1016/j.ajhg.2014.03.015. Epub 2014 Apr 10.

PMID:
24726473
[PubMed - indexed for MEDLINE]
6.

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
[PubMed - indexed for MEDLINE]
7.

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
[PubMed - indexed for MEDLINE]
8.

Sheldon-Hall syndrome.

Toydemir RM, Bamshad MJ.

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

PMID:
19309503
[PubMed - indexed for MEDLINE]
Free PMC Article
9.

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 15;140(24):2797-801.

PMID:
17103435
[PubMed - indexed for MEDLINE]
Free PMC Article
10.

TGM6 identified as a novel causative gene of spinocerebellar ataxias using exome sequencing.

Wang JL, Yang X, Xia K, Hu ZM, Weng L, Jin X, Jiang H, Zhang P, Shen L, Guo JF, Li N, Li YR, Lei LF, Zhou J, Du J, Zhou YF, Pan Q, Wang J, Wang J, Li RQ, Tang BS.

Brain. 2010 Dec;133(Pt 12):3510-8. doi: 10.1093/brain/awq323. Epub 2010 Nov 23.

PMID:
21106500
[PubMed - indexed for MEDLINE]
Free Article
11.

Mutation of perinatal myosin heavy chain associated with a Carney complex variant.

Veugelers M, Bressan M, McDermott DA, Weremowicz S, Morton CC, Mabry CC, Lefaivre JF, Zunamon A, Destree A, Chaudron JM, Basson CT.

N Engl J Med. 2004 Jul 29;351(5):460-9.

PMID:
15282353
[PubMed - indexed for MEDLINE]
Free Article
12.

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.

PMID:
23401156
[PubMed - indexed for MEDLINE]
Free PMC Article
13.

Variants in genes that encode muscle contractile proteins influence risk for isolated clubfoot.

Weymouth KS, Blanton SH, Bamshad MJ, Beck AE, Alvarez C, Richards S, Gurnett CA, Dobbs MB, Barnes D, Mitchell LE, Hecht JT.

Am J Med Genet A. 2011 Sep;155A(9):2170-9. doi: 10.1002/ajmg.a.34167. Epub 2011 Aug 10.

PMID:
21834041
[PubMed - indexed for MEDLINE]
Free PMC Article
14.

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

Ko JM, Choi IH, Baek GH, Kim KW.

J Korean Med Sci. 2013 May;28(5):780-3. doi: 10.3346/jkms.2013.28.5.780. Epub 2013 May 2.

PMID:
23678273
[PubMed - indexed for MEDLINE]
Free PMC Article
15.

Myosin binding protein C1: a novel gene for autosomal dominant distal arthrogryposis type 1.

Gurnett CA, Desruisseau DM, McCall K, Choi R, Meyer ZI, Talerico M, Miller SE, Ju JS, Pestronk A, Connolly AM, Druley TE, Weihl CC, Dobbs MB.

Hum Mol Genet. 2010 Apr 1;19(7):1165-73. doi: 10.1093/hmg/ddp587. Epub 2010 Jan 2.

PMID:
20045868
[PubMed - indexed for MEDLINE]
Free PMC Article
16.

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
[PubMed - indexed for MEDLINE]
17.

A gene for distal arthrogryposis type I maps to the pericentromeric region of chromosome 9.

Bamshad M, Watkins WS, Zenger RK, Bohnsack JF, Carey JC, Otterud B, Krakowiak PA, Robertson M, Jorde LB.

Am J Hum Genet. 1994 Dec;55(6):1153-8.

PMID:
7977374
[PubMed - indexed for MEDLINE]
Free PMC Article
18.

Distal arthrogryposis: clinical and genetic findings.

Kimber E, Tajsharghi H, Kroksmark AK, Oldfors A, Tulinius M.

Acta Paediatr. 2012 Aug;101(8):877-87. doi: 10.1111/j.1651-2227.2012.02708.x. Epub 2012 May 24.

PMID:
22519952
[PubMed - indexed for MEDLINE]
19.

Autosomal recessive lethal congenital contractural syndrome type 4 (LCCS4) caused by a mutation in MYBPC1.

Markus B, Narkis G, Landau D, Birk RZ, Cohen I, Birk OS.

Hum Mutat. 2012 Oct;33(10):1435-8. doi: 10.1002/humu.22122. Epub 2012 Jun 7.

PMID:
22610851
[PubMed - indexed for MEDLINE]
20.

Mutations in ECEL1 cause distal arthrogryposis type 5D.

McMillin MJ, Below JE, Shively KM, Beck AE, Gildersleeve HI, Pinner J, Gogola GR, Hecht JT, Grange DK, Harris DJ, Earl DL, Jagadeesh S, Mehta SG, Robertson SP, Swanson JM, Faustman EM, Mefford HC, Shendure J, Nickerson DA, Bamshad MJ; University of Washington Center for Mendelian Genomics.

Am J Hum Genet. 2013 Jan 10;92(1):150-6. doi: 10.1016/j.ajhg.2012.11.014. Epub 2012 Dec 20.

PMID:
23261301
[PubMed - indexed for MEDLINE]
Free PMC Article

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