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Items: 1 to 20 of 167

1.

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.

2.

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.

3.

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
4.

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.

5.

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.

6.

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.

7.

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
8.
9.

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.

PMID:
24038971
10.

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
11.

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.

12.

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
13.

Orthopaedic manifestations and treatment outcome of two siblings with Escobar syndrome and homozygous mutations in the CHRNG gene.

Sung KH, Lee SH, Kim N, Cho TJ.

J Pediatr Orthop B. 2015 May;24(3):262-7. doi: 10.1097/BPB.0000000000000119.

PMID:
25411939
14.

[Multiple pterygium syndrome].

Anichini C, Tomaccini D, Scarinci R, Vivarelli R.

Pediatr Med Chir. 1986 Nov-Dec;8(6):881-4. Italian.

PMID:
3601719
15.

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
16.

Limb pterygium syndromes: a review and report of eleven patients.

Hall JG, Reed SD, Rosenbaum KN, Gershanik J, Chen H, Wilson KM.

Am J Med Genet. 1982 Aug;12(4):377-409.

PMID:
7124793
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.

Escobar syndrome with heterotaxia and esophageal atresia: case report.

Martínez-Barrera LE, Morán-Barroso VF, Perezpeña-Díazconti M, Zuñiga-Rodríguez FG, Manzano-Sierra C, García-Delgado C.

Genet Couns. 2014;25(3):321-30.

PMID:
25365855
19.

Is webbing (pterygia) a constant feature in patients with Escobar syndrome?

Al Kaissi A, Kenis V, Laptiev S, Ghachem MB, Klaushofer K, Ganger R, Grill F.

Orthop Surg. 2013 Nov;5(4):297-301. doi: 10.1111/os.12064.

PMID:
24254455
20.

Escobar variant with pursed mouth, creased tongue, ophthalmologic features, and scoliosis in 6 children from Oman.

Rajab A, Hoffmann K, Ganesh A, Sethu AU, Mundlos S.

Am J Med Genet A. 2005 Apr 15;134A(2):151-7.

PMID:
15704180

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