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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: pogoda hm. 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 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: pogoda hm. PLoS One. 2018 Jan 19;13(1):e0191224. doi: 10.1371/journal.pone.0191224. eCollection 2018. PLoS One. 2018. PMID: 29351342 Free PMC article.
SSBP1 mutations in dominant optic atrophy with variable retinal degeneration.
Jurkute N, Leu C, Pogoda HM, Arno G, Robson AG, Nürnberg G, Altmüller J, Thiele H, Motameny S, Toliat MR, Powell K, Höhne W, Michaelides M, Webster AR, Moore AT, Hammerschmidt M, Nürnberg P, Yu-Wai-Man P, Votruba M. Jurkute N, et al. Among authors: pogoda hm. Ann Neurol. 2019 Sep;86(3):368-383. doi: 10.1002/ana.25550. Epub 2019 Jul 31. Ann Neurol. 2019. PMID: 31298765 Free PMC article.
26 results