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Items: 1 to 20 of 110

1.

Mutation analysis of CHRNA1, CHRNB1, CHRND, and RAPSN genes in multiple pterygium syndrome/fetal akinesia patients.

Vogt J, Harrison BJ, Spearman H, Cossins J, Vermeer S, ten Cate LN, Morgan NV, Beeson D, Maher ER.

Am J Hum Genet. 2008 Jan;82(1):222-7. doi: 10.1016/j.ajhg.2007.09.016.

2.

Germline mutation in DOK7 associated with fetal akinesia deformation sequence.

Vogt J, Morgan NV, Marton T, Maxwell S, Harrison BJ, Beeson D, Maher ER.

J Med Genet. 2009 May;46(5):338-40. doi: 10.1136/jmg.2008.065425. Epub 2009 Mar 3.

PMID:
19261599
3.

Acetylcholine receptor pathway mutations explain various fetal akinesia deformation sequence disorders.

Michalk A, Stricker S, Becker J, Rupps R, Pantzar T, Miertus J, Botta G, Naretto VG, Janetzki C, Yaqoob N, Ott CE, Seelow D, Wieczorek D, Fiebig B, Wirth B, Hoopmann M, Walther M, Körber F, Blankenburg M, Mundlos S, Heller R, Hoffmann K.

Am J Hum Genet. 2008 Feb;82(2):464-76. doi: 10.1016/j.ajhg.2007.11.006.

4.

Mutations in the embryonal subunit of the acetylcholine receptor (CHRNG) cause lethal and Escobar variants of multiple pterygium syndrome.

Morgan NV, Brueton LA, Cox P, Greally MT, Tolmie J, Pasha S, Aligianis IA, van Bokhoven H, Marton T, Al-Gazali L, Morton JE, Oley C, Johnson CA, Trembath RC, Brunner HG, Maher ER.

Am J Hum Genet. 2006 Aug;79(2):390-5. Epub 2006 Jun 20.

5.
6.

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.

7.

CHRNG genotype-phenotype correlations in the multiple pterygium syndromes.

Vogt J, Morgan NV, Rehal P, Faivre L, Brueton LA, Becker K, Fryns JP, Holder S, Islam L, Kivuva E, Lynch SA, Touraine R, Wilson LC, MacDonald F, Maher ER.

J Med Genet. 2012 Jan;49(1):21-6. doi: 10.1136/jmedgenet-2011-100378.

PMID:
22167768
8.

Rare cases of congenital arthrogryposis multiplex caused by novel recurrent CHRNG mutations.

Seo J, Choi IH, Lee JS, Yoo Y, Kim NK, Choi M, Ko JM, Shin YB.

J Hum Genet. 2015 Apr;60(4):213-5. doi: 10.1038/jhg.2015.2. Epub 2015 Jan 22.

PMID:
25608830
9.

Identification of a Dutch founder mutation in MUSK causing fetal akinesia deformation sequence.

Tan-Sindhunata MB, Mathijssen IB, Smit M, Baas F, de Vries JI, van der Voorn JP, Kluijt I, Hagen MA, Blom EW, Sistermans E, Meijers-Heijboer H, Waisfisz Q, Weiss MM, Groffen AJ.

Eur J Hum Genet. 2015 Sep;23(9):1151-7. doi: 10.1038/ejhg.2014.273. Epub 2014 Dec 24.

10.

MuSK: a new target for lethal fetal akinesia deformation sequence (FADS).

Wilbe M, Ekvall S, Eurenius K, Ericson K, Casar-Borota O, Klar J, Dahl N, Ameur A, Annerén G, Bondeson ML.

J Med Genet. 2015 Mar;52(3):195-202. doi: 10.1136/jmedgenet-2014-102730. Epub 2015 Jan 22.

PMID:
25612909
11.

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.

12.

Lethal multiple pterygium syndrome: A severe phenotype associated with a novel mutation in the nebulin gene.

Abdalla E, Ravenscroft G, Zayed L, Beecroft SJ, Laing NG.

Neuromuscul Disord. 2017 Jun;27(6):537-541. doi: 10.1016/j.nmd.2017.01.013. Epub 2017 Jan 18.

PMID:
28336317
13.

Nonlethal multiple pterygium syndrome: Escobar syndrome.

Bissinger RL, Koch FR.

Adv Neonatal Care. 2014 Feb;14(1):24-9. doi: 10.1097/ANC.0000000000000039.

PMID:
24472885
14.

Massive parallel sequencing identifies RAPSN and PDHA1 mutations causing fetal akinesia deformation sequence.

Winters L, Van Hoof E, De Catte L, Van Den Bogaert K, de Ravel T, De Waele L, Corveleyn A, Breckpot J.

Eur J Paediatr Neurol. 2017 Sep;21(5):745-753. doi: 10.1016/j.ejpn.2017.04.641. Epub 2017 Apr 26.

PMID:
28495245
15.

Escobar syndrome is a prenatal myasthenia caused by disruption of the acetylcholine receptor fetal gamma subunit.

Hoffmann K, Muller JS, Stricker S, Megarbane A, Rajab A, Lindner TH, Cohen M, Chouery E, Adaimy L, Ghanem I, Delague V, Boltshauser E, Talim B, Horvath R, Robinson PN, Lochmüller H, Hübner C, Mundlos S.

Am J Hum Genet. 2006 Aug;79(2):303-12. Epub 2006 Jun 20.

16.

CHRND mutation causes a congenital myasthenic syndrome by impairing co-clustering of the acetylcholine receptor with rapsyn.

Müller JS, Baumeister SK, Schara U, Cossins J, Krause S, von der Hagen M, Huebner A, Webster R, Beeson D, Lochmüller H, Abicht A.

Brain. 2006 Oct;129(Pt 10):2784-93. Epub 2006 Aug 17.

PMID:
16916845
17.

Clinical phenotype and the lack of mutations in the CHRNG, CHRND, and CHRNA1 genes in two Indian families with Escobar syndrome.

Kodaganur SG, Tontanahal SJ, Sarda A, Shah MH, Bhat V, Kumar A.

Clin Dysmorphol. 2013 Apr;22(2):54-8. doi: 10.1097/MCD.0b013e32835f9ac0.

PMID:
23448903
18.

A CHRNB1 frameshift mutation is associated with familial arthrogryposis multiplex congenita in Red dairy cattle.

Agerholm JS, McEvoy FJ, Menzi F, Jagannathan V, Drögemüller C.

BMC Genomics. 2016 Jun 30;17:479. doi: 10.1186/s12864-016-2832-x.

19.

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.

20.

Impaired receptor clustering in congenital myasthenic syndrome with novel RAPSN mutations.

Müller JS, Baumeister SK, Rasic VM, Krause S, Todorovic S, Kugler K, Müller-Felber W, Abicht A, Lochmüller H.

Neurology. 2006 Oct 10;67(7):1159-64. Epub 2006 Aug 23.

PMID:
16931511

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