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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. Among authors: lindner th. 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.
Faulty initiation of proteoglycan synthesis causes cardiac and joint defects.
Baasanjav S, Al-Gazali L, Hashiguchi T, Mizumoto S, Fischer B, Horn D, Seelow D, Ali BR, Aziz SA, Langer R, Saleh AA, Becker C, Nürnberg G, Cantagrel V, Gleeson JG, Gomez D, Michel JB, Stricker S, Lindner TH, Nürnberg P, Sugahara K, Mundlos S, Hoffmann K. Baasanjav S, et al. Among authors: lindner th. Am J Hum Genet. 2011 Jul 15;89(1):15-27. doi: 10.1016/j.ajhg.2011.05.021. Am J Hum Genet. 2011. PMID: 21763480 Free PMC article.
High-throughput sequencing of microdissected chromosomal regions.
Weise A, Timmermann B, Grabherr M, Werber M, Heyn P, Kosyakova N, Liehr T, Neitzel H, Konrat K, Bommer C, Dietrich C, Rajab A, Reinhardt R, Mundlos S, Lindner TH, Hoffmann K. Weise A, et al. Among authors: lindner th. Eur J Hum Genet. 2010 Apr;18(4):457-62. doi: 10.1038/ejhg.2009.196. Epub 2009 Nov 4. Eur J Hum Genet. 2010. PMID: 19888302 Free PMC article.
AssociationDB: web-based exploration of genomic association.
Seelow D, Hoffmann K, Lindner TH. Seelow D, et al. Among authors: lindner th. Bioinformatics. 2007 Oct 1;23(19):2643-4. doi: 10.1093/bioinformatics/btm376. Epub 2007 Jul 27. Bioinformatics. 2007. PMID: 17660207
106 results