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Mutations in SCARF2 are responsible for Van Den Ende-Gupta syndrome.
Anastasio N, Ben-Omran T, Teebi A, Ha KC, Lalonde E, Ali R, Almureikhi M, Der Kaloustian VM, Liu J, Rosenblatt DS, Majewski J, Jerome-Majewska LA. Anastasio N, et al. Am J Hum Genet. 2010 Oct 8;87(4):553-9. doi: 10.1016/j.ajhg.2010.09.005. Am J Hum Genet. 2010. PMID: 20887961 Free PMC article.
Expression of Mmachc and Mmadhc during mouse organogenesis.
Pupavac M, Garcia MA, Rosenblatt DS, Jerome-Majewska LA. Pupavac M, et al. Mol Genet Metab. 2011 Aug;103(4):401-5. doi: 10.1016/j.ymgme.2011.04.004. Epub 2011 Apr 17. Mol Genet Metab. 2011. PMID: 21536470
A novel mouse model for genetic variation in 10-formyltetrahydrofolate synthetase exhibits disturbed purine synthesis with impacts on pregnancy and embryonic development.
Christensen KE, Deng L, Leung KY, Arning E, Bottiglieri T, Malysheva OV, Caudill MA, Krupenko NI, Greene ND, Jerome-Majewska L, MacKenzie RE, Rozen R. Christensen KE, et al. Hum Mol Genet. 2013 Sep 15;22(18):3705-19. doi: 10.1093/hmg/ddt223. Epub 2013 May 23. Hum Mol Genet. 2013. PMID: 23704330
Disrupted auto-regulation of the spliceosomal gene SNRPB causes cerebro-costo-mandibular syndrome.
Lynch DC, Revil T, Schwartzentruber J, Bhoj EJ, Innes AM, Lamont RE, Lemire EG, Chodirker BN, Taylor JP, Zackai EH, McLeod DR, Kirk EP, Hoover-Fong J, Fleming L, Savarirayan R; Care4Rare Canada; Majewski J, Jerome-Majewska LA, Parboosingh JS, Bernier FP. Lynch DC, et al. Nat Commun. 2014 Jul 22;5:4483. doi: 10.1038/ncomms5483. Nat Commun. 2014. PMID: 25047197 Free PMC article.
49 results