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2,418 results
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RSRC1 mutation affects intellect and behaviour through aberrant splicing and transcription, downregulating IGFBP3.
Perez Y, Menascu S, Cohen I, Kadir R, Basha O, Shorer Z, Romi H, Meiri G, Rabinski T, Ofir R, Yeger-Lotem E, Birk OS. Perez Y, et al. Brain. 2018 Apr 1;141(4):961-970. doi: 10.1093/brain/awy045. Brain. 2018. PMID: 29522154
ALFY-Controlled DVL3 Autophagy Regulates Wnt Signaling, Determining Human Brain Size.
Kadir R, Harel T, Markus B, Perez Y, Bakhrat A, Cohen I, Volodarsky M, Feintsein-Linial M, Chervinski E, Zlotogora J, Sivan S, Birnbaum RY, Abdu U, Shalev S, Birk OS. Kadir R, et al. PLoS Genet. 2016 Mar 23;12(3):e1005919. doi: 10.1371/journal.pgen.1005919. eCollection 2016 Mar. PLoS Genet. 2016. PMID: 27008544 Free PMC article.
VPS53 mutations cause progressive cerebello-cerebral atrophy type 2 (PCCA2).
Feinstein M, Flusser H, Lerman-Sagie T, Ben-Zeev B, Lev D, Agamy O, Cohen I, Kadir R, Sivan S, Leshinsky-Silver E, Markus B, Birk OS. Feinstein M, et al. J Med Genet. 2014 May;51(5):303-8. doi: 10.1136/jmedgenet-2013-101823. Epub 2014 Feb 27. J Med Genet. 2014. PMID: 24577744
Isolated foveal hypoplasia with secondary nystagmus and low vision is associated with a homozygous SLC38A8 mutation.
Perez Y, Gradstein L, Flusser H, Markus B, Cohen I, Langer Y, Marcus M, Lifshitz T, Kadir R, Birk OS. Perez Y, et al. Eur J Hum Genet. 2014 May;22(5):703-6. doi: 10.1038/ejhg.2013.212. Epub 2013 Sep 18. Eur J Hum Genet. 2014. PMID: 24045842 Free PMC article.
Autosomal recessive Adams-Oliver syndrome caused by homozygous mutation in EOGT, encoding an EGF domain-specific O-GlcNAc transferase.
Cohen I, Silberstein E, Perez Y, Landau D, Elbedour K, Langer Y, Kadir R, Volodarsky M, Sivan S, Narkis G, Birk OS. Cohen I, et al. Eur J Hum Genet. 2014 Mar;22(3):374-8. doi: 10.1038/ejhg.2013.159. Epub 2013 Jul 17. Eur J Hum Genet. 2014. PMID: 23860037 Free PMC article.
A deletion mutation in TMEM38B associated with autosomal recessive osteogenesis imperfecta.
Volodarsky M, Markus B, Cohen I, Staretz-Chacham O, Flusser H, Landau D, Shelef I, Langer Y, Birk OS. Volodarsky M, et al. Hum Mutat. 2013 Apr;34(4):582-6. doi: 10.1002/humu.22274. Hum Mutat. 2013. PMID: 23316006
Pelizaeus-Merzbacher-like disease caused by AIMP1/p43 homozygous mutation.
Feinstein M, Markus B, Noyman I, Shalev H, Flusser H, Shelef I, Liani-Leibson K, Shorer Z, Cohen I, Khateeb S, Sivan S, Birk OS. Feinstein M, et al. Am J Hum Genet. 2010 Dec 10;87(6):820-8. doi: 10.1016/j.ajhg.2010.10.016. Epub 2010 Nov 18. Am J Hum Genet. 2010. PMID: 21092922 Free PMC article.
Meconium ileus caused by mutations in GUCY2C, encoding the CFTR-activating guanylate cyclase 2C.
Romi H, Cohen I, Landau D, Alkrinawi S, Yerushalmi B, Hershkovitz R, Newman-Heiman N, Cutting GR, Ofir R, Sivan S, Birk OS. Romi H, et al. Am J Hum Genet. 2012 May 4;90(5):893-9. doi: 10.1016/j.ajhg.2012.03.022. Epub 2012 Apr 19. Am J Hum Genet. 2012. PMID: 22521417 Free PMC article.
2,418 results
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