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Mutations in BMP4 cause eye, brain, and digit developmental anomalies: overlap between the BMP4 and hedgehog signaling pathways.
Bakrania P, Efthymiou M, Klein JC, Salt A, Bunyan DJ, Wyatt A, Ponting CP, Martin A, Williams S, Lindley V, Gilmore J, Restori M, Robson AG, Neveu MM, Holder GE, Collin JR, Robinson DO, Farndon P, Johansen-Berg H, Gerrelli D, Ragge NK. Bakrania P, et al. Among authors: restori m. Am J Hum Genet. 2008 Feb;82(2):304-19. doi: 10.1016/j.ajhg.2007.09.023. Epub 2008 Jan 31. Am J Hum Genet. 2008. PMID: 18252212 Free PMC article.
The extended clinical phenotype of dome-shaped macula.
Errera MH, Michaelides M, Keane PA, Restori M, Paques M, Moore AT, Yeoh J, Chan D, Egan CA, Patel PJ, Tufail A. Errera MH, et al. Among authors: restori m. Graefes Arch Clin Exp Ophthalmol. 2014 Mar;252(3):499-508. doi: 10.1007/s00417-013-2561-7. Epub 2014 Jan 25. Graefes Arch Clin Exp Ophthalmol. 2014. PMID: 24464468
Detecting optic nerve head swelling on ultrasound and optical coherence tomography in children and young people: an observational study.
Dahlmann-Noor AH, Adams GW, Daniel MC, Davis A, Hancox J, Hingorani M, Ibanez P, McPhee B, Patel H, Restori M, Roberts C, Theodorou M, Acheson J. Dahlmann-Noor AH, et al. Among authors: restori m. Br J Ophthalmol. 2018 Mar;102(3):318-322. doi: 10.1136/bjophthalmol-2017-310196. Epub 2017 Jun 21. Br J Ophthalmol. 2018. PMID: 28637781
59 results