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The clinical spectrum of fetal Niemann-Pick type C.
Spiegel R, Raas-Rothschild A, Reish O, Regev M, Meiner V, Bargal R, Sury V, Meir K, Nadjari M, Hermann G, Iancu TC, Shalev SA, Zeigler M. Spiegel R, et al. Among authors: iancu tc. Am J Med Genet A. 2009 Mar;149A(3):446-50. doi: 10.1002/ajmg.a.32642. Am J Med Genet A. 2009. PMID: 19206179
Clinico-pathological manifestations of variant late infantile neuronal ceroid lipofuscinosis (vLINCL) caused by a novel mutation in MFSD8 gene.
Mandel H, Cohen Katsanelson K, Khayat M, Chervinsky I, Vladovski E, Iancu TC, Indelman M, Horovitz Y, Sprecher E, Shalev SA, Spiegel R. Mandel H, et al. Among authors: iancu tc. Eur J Med Genet. 2014 Nov-Dec;57(11-12):607-12. doi: 10.1016/j.ejmg.2014.09.004. Epub 2014 Sep 28. Eur J Med Genet. 2014. PMID: 25270050
ATP6AP1 deficiency causes an immunodeficiency with hepatopathy, cognitive impairment and abnormal protein glycosylation.
Jansen EJ, Timal S, Ryan M, Ashikov A, van Scherpenzeel M, Graham LA, Mandel H, Hoischen A, Iancu TC, Raymond K, Steenbergen G, Gilissen C, Huijben K, van Bakel NH, Maeda Y, Rodenburg RJ, Adamowicz M, Crushell E, Koenen H, Adams D, Vodopiutz J, Greber-Platzer S, Müller T, Dueckers G, Morava E, Sykut-Cegielska J, Martens GJ, Wevers RA, Niehues T, Huynen MA, Veltman JA, Stevens TH, Lefeber DJ. Jansen EJ, et al. Among authors: iancu tc. Nat Commun. 2016 May 27;7:11600. doi: 10.1038/ncomms11600. Nat Commun. 2016. PMID: 27231034 Free PMC article.
Fat malabsorption due to bile acid synthesis defect.
Rinawi F, Iancu TC, Hartman C, Cohen H, Yarden-Bilavsky H, Lev MR, Shamir R. Rinawi F, et al. Among authors: iancu tc. Isr Med Assoc J. 2015 Mar;17(3):190-2. Isr Med Assoc J. 2015. PMID: 25946774 Free article. No abstract available.
Infantile mitochondrial hepatopathy is a cardinal feature of MEGDEL syndrome (3-methylglutaconic aciduria type IV with sensorineural deafness, encephalopathy and Leigh-like syndrome) caused by novel mutations in SERAC1.
Sarig O, Goldsher D, Nousbeck J, Fuchs-Telem D, Cohen-Katsenelson K, Iancu TC, Manov I, Saada A, Sprecher E, Mandel H. Sarig O, et al. Among authors: iancu tc. Am J Med Genet A. 2013 Sep;161A(9):2204-15. doi: 10.1002/ajmg.a.36059. Epub 2013 Aug 5. Am J Med Genet A. 2013. PMID: 23918762
Poor lysosomal membrane integrity in proximal tubule cells of haptoglobin 2-2 genotype mice with diabetes mellitus.
Asleh R, Nakhoul FM, Miller-Lotan R, Awad H, Farbstein D, Levy NS, Nakhoul N, Iancu TC, Manov I, Laue M, Traber MG, Lebold KM, Levy AP. Asleh R, et al. Among authors: iancu tc. Free Radic Biol Med. 2012 Aug 15;53(4):779-86. doi: 10.1016/j.freeradbiomed.2012.06.015. Epub 2012 Jun 27. Free Radic Biol Med. 2012. PMID: 22749805 Free PMC article.
97 results