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A homozygous missense variant in VWA2, encoding an interactor of the Fraser-complex, in a patient with vesicoureteral reflux.
van der Ven AT, Kobbe B, Kohl S, Shril S, Pogoda HM, Imhof T, Ityel H, Vivante A, Chen J, Hwang DY, Connaughton DM, Mann N, Widmeier E, Taglienti M, Schmidt JM, Nakayama M, Senguttuvan P, Kumar S, Tasic V, Kehinde EO, Mane SM, Lifton RP, Soliman N, Lu W, Bauer SB, Hammerschmidt M, Wagener R, Hildebrandt F. van der Ven AT, et al. Among authors: hammerschmidt m. PLoS One. 2018 Jan 19;13(1):e0191224. doi: 10.1371/journal.pone.0191224. eCollection 2018. PLoS One. 2018. PMID: 29351342 Free PMC article.
Molecular genetics of pituitary development in zebrafish.
Pogoda HM, Hammerschmidt M. Pogoda HM, et al. Among authors: hammerschmidt m. Semin Cell Dev Biol. 2007 Aug;18(4):543-58. doi: 10.1016/j.semcdb.2007.04.004. Epub 2007 Apr 19. Semin Cell Dev Biol. 2007. PMID: 17560816 Review.
Genetic analysis of fin development in zebrafish identifies furin and hemicentin1 as potential novel fraser syndrome disease genes.
Carney TJ, Feitosa NM, Sonntag C, Slanchev K, Kluger J, Kiyozumi D, Gebauer JM, Coffin Talbot J, Kimmel CB, Sekiguchi K, Wagener R, Schwarz H, Ingham PW, Hammerschmidt M. Carney TJ, et al. Among authors: hammerschmidt m. PLoS Genet. 2010 Apr 15;6(4):e1000907. doi: 10.1371/journal.pgen.1000907. PLoS Genet. 2010. PMID: 20419147 Free PMC article.
Craniosynostosis and multiple skeletal anomalies in humans and zebrafish result from a defect in the localized degradation of retinoic acid.
Laue K, Pogoda HM, Daniel PB, van Haeringen A, Alanay Y, von Ameln S, Rachwalski M, Morgan T, Gray MJ, Breuning MH, Sawyer GM, Sutherland-Smith AJ, Nikkels PG, Kubisch C, Bloch W, Wollnik B, Hammerschmidt M, Robertson SP. Laue K, et al. Among authors: hammerschmidt m. Am J Hum Genet. 2011 Nov 11;89(5):595-606. doi: 10.1016/j.ajhg.2011.09.015. Epub 2011 Oct 20. Am J Hum Genet. 2011. PMID: 22019272 Free PMC article.
A mutation in PNPT1, encoding mitochondrial-RNA-import protein PNPase, causes hereditary hearing loss.
von Ameln S, Wang G, Boulouiz R, Rutherford MA, Smith GM, Li Y, Pogoda HM, Nürnberg G, Stiller B, Volk AE, Borck G, Hong JS, Goodyear RJ, Abidi O, Nürnberg P, Hofmann K, Richardson GP, Hammerschmidt M, Moser T, Wollnik B, Koehler CM, Teitell MA, Barakat A, Kubisch C. von Ameln S, et al. Among authors: hammerschmidt m. Am J Hum Genet. 2012 Nov 2;91(5):919-27. doi: 10.1016/j.ajhg.2012.09.002. Epub 2012 Oct 18. Am J Hum Genet. 2012. PMID: 23084290 Free PMC article.
AMACO is a component of the basement membrane-associated Fraser complex.
Richardson RJ, Gebauer JM, Zhang JL, Kobbe B, Keene DR, Karlsen KR, Richetti S, Wohl AP, Sengle G, Neiss WF, Paulsson M, Hammerschmidt M, Wagener R. Richardson RJ, et al. Among authors: hammerschmidt m. J Invest Dermatol. 2014 May;134(5):1313-1322. doi: 10.1038/jid.2013.492. Epub 2013 Nov 14. J Invest Dermatol. 2014. PMID: 24232570 Free PMC article.
199 results