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Mutations in WNT7A cause a range of limb malformations, including Fuhrmann syndrome and Al-Awadi/Raas-Rothschild/Schinzel phocomelia syndrome.
Woods CG, Stricker S, Seemann P, Stern R, Cox J, Sherridan E, Roberts E, Springell K, Scott S, Karbani G, Sharif SM, Toomes C, Bond J, Kumar D, Al-Gazali L, Mundlos S. Woods CG, et al. Among authors: stricker s. Am J Hum Genet. 2006 Aug;79(2):402-8. doi: 10.1086/506332. Epub 2006 Jun 23. Am J Hum Genet. 2006. PMID: 16826533 Free PMC article.
Mutations in bone morphogenetic protein receptor 1B cause brachydactyly type A2.
Lehmann K, Seemann P, Stricker S, Sammar M, Meyer B, Süring K, Majewski F, Tinschert S, Grzeschik KH, Müller D, Knaus P, Nürnberg P, Mundlos S. Lehmann K, et al. Among authors: stricker s. Proc Natl Acad Sci U S A. 2003 Oct 14;100(21):12277-82. doi: 10.1073/pnas.2133476100. Epub 2003 Oct 1. Proc Natl Acad Sci U S A. 2003. PMID: 14523231 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. Among authors: stricker s. 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.
Multiple roles for neurofibromin in skeletal development and growth.
Kolanczyk M, Kossler N, Kühnisch J, Lavitas L, Stricker S, Wilkening U, Manjubala I, Fratzl P, Spörle R, Herrmann BG, Parada LF, Kornak U, Mundlos S. Kolanczyk M, et al. Among authors: stricker s. Hum Mol Genet. 2007 Apr 15;16(8):874-86. doi: 10.1093/hmg/ddm032. Epub 2007 Feb 22. Hum Mol Genet. 2007. PMID: 17317783
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. Among authors: stricker s. 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.
268 results