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Items: 1 to 20 of 102

1.

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.

2.

The neuronal endopeptidase ECEL1 is associated with a distinct form of recessive distal arthrogryposis.

Dieterich K, Quijano-Roy S, Monnier N, Zhou J, Fauré J, Smirnow DA, Carlier R, Laroche C, Marcorelles P, Mercier S, Mégarbané A, Odent S, Romero N, Sternberg D, Marty I, Estournet B, Jouk PS, Melki J, Lunardi J.

Hum Mol Genet. 2013 Apr 15;22(8):1483-92. doi: 10.1093/hmg/dds514.

PMID:
23236030
3.

Identification of three novel ECEL1 mutations in three families with distal arthrogryposis type 5D.

Shaheen R, Al-Owain M, Khan AO, Zaki MS, Hossni HA, Al-Tassan R, Eyaid W, Alkuraya FS.

Clin Genet. 2014 Jun;85(6):568-72. doi: 10.1111/cge.12226.

PMID:
23829171
4.

The ECEL1-related strabismus phenotype is consistent with congenital cranial dysinnervation disorder.

Khan AO, Shaheen R, Alkuraya FS.

J AAPOS. 2014 Aug;18(4):362-7. doi: 10.1016/j.jaapos.2014.03.005. Erratum in: J AAPOS. 2014 Oct;18(5):517.

PMID:
25173900
5.

Expanding the phenotypic spectrum of ECEL1-related congenital contracture syndromes.

Shaaban S, Duzcan F, Yildirim C, Chan WM, Andrews C, Akarsu NA, Engle EC.

Clin Genet. 2014 Jun;85(6):562-7. doi: 10.1111/cge.12224.

6.

Distal arthrogryposis type 5D with a novel ECEL1 gene mutation.

Patil SJ, Rai GK, Bhat V, Ramesh VA, Nagarajaram HA, Matalia J, Phadke SR.

Am J Med Genet A. 2014 Nov;164A(11):2857-62. doi: 10.1002/ajmg.a.36702.

PMID:
25099528
7.

ECEL1 mutation causes fetal arthrogryposis multiplex congenita.

Dohrn N, Le VQ, Petersen A, Skovbo P, Pedersen IS, Ernst A, Krarup H, Petersen MB.

Am J Med Genet A. 2015 Apr;167A(4):731-43. doi: 10.1002/ajmg.a.37018.

PMID:
25708584
8.

ECEL1 mutation implicates impaired axonal arborization of motor nerves in the pathogenesis of distal arthrogryposis.

Nagata K, Kiryu-Seo S, Tamada H, Okuyama-Uchimura F, Kiyama H, Saido TC.

Acta Neuropathol. 2016 Jul;132(1):111-26. doi: 10.1007/s00401-016-1554-0.

PMID:
26951213
9.

Distal arthrogryposis type 5D with novel clinical features and compound heterozygous mutations in ECEL1.

Barnett CP, Todd EJ, Ong R, Davis MR, Atkinson V, Allcock R, Laing N, Ravenscroft G.

Am J Med Genet A. 2014 Jul;164A(7):1846-9. doi: 10.1002/ajmg.a.36342. No abstract available.

PMID:
24782201
10.

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. Erratum in: PLoS One. 2015;10(5):e0125310.

11.

ZBTB42 mutation defines a novel lethal congenital contracture syndrome (LCCS6).

Patel N, Smith LL, Faqeih E, Mohamed J, Gupta VA, Alkuraya FS.

Hum Mol Genet. 2014 Dec 15;23(24):6584-93. doi: 10.1093/hmg/ddu384.

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.

13.

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.

14.

Molecular etiology of arthrogryposis in multiple families of mostly Turkish origin.

Bayram Y, Karaca E, Coban Akdemir Z, Yilmaz EO, Tayfun GA, Aydin H, Torun D, Bozdogan ST, Gezdirici A, Isikay S, Atik MM, Gambin T, Harel T, El-Hattab AW, Charng WL, Pehlivan D, Jhangiani SN, Muzny DM, Karaman A, Celik T, Yuregir OO, Yildirim T, Bayhan IA, Boerwinkle E, Gibbs RA, Elcioglu N, Tuysuz B, Lupski JR.

J Clin Invest. 2016 Feb;126(2):762-78. doi: 10.1172/JCI84457.

15.

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.

16.

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.

17.

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.

18.

Genetics of arthrogryposis: linkage analysis approach.

Narkis G, Landau D, Manor E, Ofir R, Birk OS.

Clin Orthop Relat Res. 2007 Mar;456:30-5.

PMID:
17195815
19.

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.

20.

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.

PMID:
23850728
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