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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1968 1
1975 1
1976 1
1978 1
1980 2
1982 1
1984 4
1985 1
1986 1
1987 3
1988 2
1989 1
1990 3
1993 1
1994 1
1995 2
1999 1
2002 1
2005 3
2006 3
2007 1
2008 1
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2015 1
2019 1
2024 0

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PubMed (OMIM) for id: 1146

39 results

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Page 1
CHRNG-related nonlethal multiple pterygium syndrome: Muscle imaging pattern and clinical, histopathological, and molecular genetic findings.
Carrera-García L, Natera-de Benito D, Dieterich K, de la Banda MGG, Felter A, Inarejos E, Codina A, Jou C, Roldan M, Palau F, Hoenicka J, Pijuan J, Ortez C, Expósito-Escudero J, Durand C, Nugues F, Jimenez-Mallebrera C, Colomer J, Carlier RY, Lochmüller H, Quijano-Roy S, Nascimento A. Carrera-García L, et al. Am J Med Genet A. 2019 Jun;179(6):915-926. doi: 10.1002/ajmg.a.61122. Epub 2019 Mar 14. Am J Med Genet A. 2019. PMID: 30868735 Review.
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. Vogt J, et al. J Med Genet. 2012 Jan;49(1):21-6. doi: 10.1136/jmedgenet-2011-100378. J Med Genet. 2012. PMID: 22167768
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. Michalk A, et al. Am J Hum Genet. 2008 Feb;82(2):464-76. doi: 10.1016/j.ajhg.2007.11.006. Am J Hum Genet. 2008. PMID: 18252226 Free PMC article.
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. Morgan NV, et al. Am J Hum Genet. 2006 Aug;79(2):390-5. doi: 10.1086/506256. Epub 2006 Jun 20. Am J Hum Genet. 2006. PMID: 16826531 Free PMC article.
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. Hoffmann K, et al. Am J Hum Genet. 2006 Aug;79(2):303-12. doi: 10.1086/506257. Epub 2006 Jun 20. Am J Hum Genet. 2006. PMID: 16826520 Free PMC article.
39 results