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Items: 1 to 20 of 28

1.

Multiple pterygium syndrome: Challenge for anesthesiologist.

Sethi P, Bhatia PK, Gupta N, Singh K.

Saudi J Anaesth. 2016 Jul-Sep;10(3):350-2. doi: 10.4103/1658-354X.174901.

2.

Truncating CHRNG mutations associated with interfamilial variability of the severity of the Escobar variant of multiple pterygium syndrome.

Kariminejad A, Almadani N, Khoshaeen A, Olsson B, Moslemi AR, Tajsharghi H.

BMC Genet. 2016 May 31;17(1):71. doi: 10.1186/s12863-016-0382-5.

3.

Structural correlates of affinity in fetal versus adult endplate nicotinic receptors.

Nayak TK, Chakraborty S, Zheng W, Auerbach A.

Nat Commun. 2016 Apr 22;7:11352. doi: 10.1038/ncomms11352.

4.

Arthrogryposis: an update on clinical aspects, etiology, and treatment strategies.

Kowalczyk B, Feluś J.

Arch Med Sci. 2016 Feb 1;12(1):10-24. doi: 10.5114/aoms.2016.57578. Epub 2016 Feb 2.

5.

Salbutamol-responsive fetal acetylcholine receptor inactivation syndrome.

Allen NM, Hacohen Y, Palace J, Beeson D, Vincent A, Jungbluth H.

Neurology. 2016 Feb 16;86(7):692-4. doi: 10.1212/WNL.0000000000002382. Epub 2016 Jan 20. No abstract available.

6.

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. Epub 2016 Jan 11.

7.

Autosomal-Dominant Multiple Pterygium Syndrome Is Caused by Mutations in MYH3.

Chong JX, Burrage LC, Beck AE, Marvin CT, McMillin MJ, Shively KM, Harrell TM, Buckingham KJ, Bacino CA, Jain M, Alanay Y, Berry SA, Carey JC, Gibbs RA, Lee BH, Krakow D, Shendure J, Nickerson DA; University of Washington Center for Mendelian Genomics, Bamshad MJ.

Am J Hum Genet. 2015 May 7;96(5):841-9. doi: 10.1016/j.ajhg.2015.04.004.

8.

Fetal acetylcholine receptor inactivation syndrome: A myopathy due to maternal antibodies.

Hacohen Y, Jacobson LW, Byrne S, Norwood F, Lall A, Robb S, Dilena R, Fumagalli M, Born AP, Clarke D, Lim M, Vincent A, Jungbluth H.

Neurol Neuroimmunol Neuroinflamm. 2014 Dec 23;2(1):e57. doi: 10.1212/NXI.0000000000000057. eCollection 2015 Feb.

9.

Germline mutations in RYR1 are associated with foetal akinesia deformation sequence/lethal multiple pterygium syndrome.

McKie AB, Alsaedi A, Vogt J, Stuurman KE, Weiss MM, Shakeel H, Tee L, Morgan NV, Nikkels PG, van Haaften G, Park SM, van der Smagt JJ, Bugiani M, Maher ER.

Acta Neuropathol Commun. 2014 Dec 5;2:148. doi: 10.1186/s40478-014-0148-0.

10.

Neuromotor synapses in Escobar syndrome.

Robinson KG, Viereck MJ, Margiotta MV, Gripp KW, Abdul-Rahman OA, Akins RE.

Am J Med Genet A. 2013 Dec;161A(12):3042-8. doi: 10.1002/ajmg.a.36154. Epub 2013 Aug 16.

11.

Asymmetric transmitter binding sites of fetal muscle acetylcholine receptors shape their synaptic response.

Nayak TK, Auerbach A.

Proc Natl Acad Sci U S A. 2013 Aug 13;110(33):13654-9. doi: 10.1073/pnas.1308247110. Epub 2013 Jul 29.

12.

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. Epub 2013 Jul 19.

13.

Zebrafish model for congenital myasthenic syndrome reveals mechanisms causal to developmental recovery.

Walogorsky M, Mongeon R, Wen H, Nelson NR, Urban JM, Ono F, Mandel G, Brehm P.

Proc Natl Acad Sci U S A. 2012 Oct 23;109(43):17711-6. doi: 10.1073/pnas.1215858109. Epub 2012 Oct 8.

14.

Acetylcholine receptor gating in a zebrafish model for slow-channel syndrome.

Walogorsky M, Mongeon R, Wen H, Mandel G, Brehm P.

J Neurosci. 2012 Jun 6;32(23):7941-8. doi: 10.1523/JNEUROSCI.0158-12.2012.

15.

Congenital myasthenic syndromes in 2012.

Engel AG.

Curr Neurol Neurosci Rep. 2012 Feb;12(1):92-101. doi: 10.1007/s11910-011-0234-7. Review.

16.

Escobar syndrome in three male patients of same family.

Amalnath DS, Subrahmanyam DK, Sridhar S, Dutta TK.

Indian J Hum Genet. 2011 Jan;17(1):22-5. doi: 10.4103/0971-6866.82188.

17.

Anesthesic management for escobar syndrome: case report.

Arpaci AH, Bozkirli F, Konuk O.

Case Rep Med. 2011;2011:515719. doi: 10.1155/2011/515719. Epub 2011 Mar 30.

18.

Mutations causing Greenberg dysplasia but not Pelger anomaly uncouple enzymatic from structural functions of a nuclear membrane protein.

Clayton P, Fischer B, Mann A, Mansour S, Rossier E, Veen M, Lang C, Baasanjav S, Kieslich M, Brossuleit K, Gravemann S, Schnipper N, Karbasyian M, Demuth I, Zwerger M, Vaya A, Utermann G, Mundlos S, Stricker S, Sperling K, Hoffmann K.

Nucleus. 2010 Jul-Aug;1(4):354-66. doi: 10.4161/nucl.1.4.12435. Epub 2010 May 21.

19.

Cleft palate is caused by CNS dysfunction in Gad1 and Viaat knockout mice.

Oh WJ, Westmoreland JJ, Summers R, Condie BG.

PLoS One. 2010 Mar 19;5(3):e9758. doi: 10.1371/journal.pone.0009758.

20.

Mutations in FLVCR2 are associated with proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome (Fowler syndrome).

Meyer E, Ricketts C, Morgan NV, Morris MR, Pasha S, Tee LJ, Rahman F, Bazin A, Bessières B, Déchelotte P, Yacoubi MT, Al-Adnani M, Marton T, Tannahill D, Trembath RC, Fallet-Bianco C, Cox P, Williams D, Maher ER.

Am J Hum Genet. 2010 Mar 12;86(3):471-8. doi: 10.1016/j.ajhg.2010.02.004. Epub 2010 Mar 4.

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