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317 results

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Page 1
Mutated nup62 causes autosomal recessive infantile bilateral striatal necrosis.
Basel-Vanagaite L, Muncher L, Straussberg R, Pasmanik-Chor M, Yahav M, Rainshtein L, Walsh CA, Magal N, Taub E, Drasinover V, Shalev H, Attia R, Rechavi G, Simon AJ, Shohat M. Basel-Vanagaite L, et al. Among authors: shohat m. Ann Neurol. 2006 Aug;60(2):214-22. doi: 10.1002/ana.20902. Ann Neurol. 2006. PMID: 16786527
Infantile bilateral striatal necrosis maps to chromosome 19q.
Basel-Vanagaite L, Straussberg R, Ovadia H, Kaplan A, Magal N, Shorer Z, Shalev H, Walsh C, Shohat M. Basel-Vanagaite L, et al. Among authors: shohat m. Neurology. 2004 Jan 13;62(1):87-90. doi: 10.1212/01.wnl.0000101680.49036.69. Neurology. 2004. PMID: 14718703
Amniotic trisomy 11 mosaicism--is it a benign finding?
Basel-Vanagaite L, Davidov B, Friedman J, Yeshaya Y, Magal N, Drasinover V, Shohat M. Basel-Vanagaite L, et al. Among authors: shohat m. Prenat Diagn. 2006 Sep;26(9):778-81. doi: 10.1002/pd.1501. Prenat Diagn. 2006. PMID: 16810710
Autosomal recessive ichthyosis with hypotrichosis caused by a mutation in ST14, encoding type II transmembrane serine protease matriptase.
Basel-Vanagaite L, Attia R, Ishida-Yamamoto A, Rainshtein L, Ben Amitai D, Lurie R, Pasmanik-Chor M, Indelman M, Zvulunov A, Saban S, Magal N, Sprecher E, Shohat M. Basel-Vanagaite L, et al. Among authors: shohat m. Am J Hum Genet. 2007 Mar;80(3):467-77. doi: 10.1086/512487. Epub 2007 Jan 23. Am J Hum Genet. 2007. PMID: 17273967 Free PMC article.
Multiple congenital anomalies-hypotonia-seizures syndrome is caused by a mutation in PIGN.
Maydan G, Noyman I, Har-Zahav A, Neriah ZB, Pasmanik-Chor M, Yeheskel A, Albin-Kaplanski A, Maya I, Magal N, Birk E, Simon AJ, Halevy A, Rechavi G, Shohat M, Straussberg R, Basel-Vanagaite L. Maydan G, et al. Among authors: shohat m. J Med Genet. 2011 Jun;48(6):383-9. doi: 10.1136/jmg.2010.087114. Epub 2011 Apr 14. J Med Genet. 2011. PMID: 21493957
Transient infantile hypertriglyceridemia, fatty liver, and hepatic fibrosis caused by mutated GPD1, encoding glycerol-3-phosphate dehydrogenase 1.
Basel-Vanagaite L, Zevit N, Har Zahav A, Guo L, Parathath S, Pasmanik-Chor M, McIntyre AD, Wang J, Albin-Kaplanski A, Hartman C, Marom D, Zeharia A, Badir A, Shoerman O, Simon AJ, Rechavi G, Shohat M, Hegele RA, Fisher EA, Shamir R. Basel-Vanagaite L, et al. Among authors: shohat m. Am J Hum Genet. 2012 Jan 13;90(1):49-60. doi: 10.1016/j.ajhg.2011.11.028. Epub 2012 Jan 5. Am J Hum Genet. 2012. PMID: 22226083 Free PMC article.
Microcephaly thin corpus callosum intellectual disability syndrome caused by mutated TAF2.
Hellman-Aharony S, Smirin-Yosef P, Halevy A, Pasmanik-Chor M, Yeheskel A, Har-Zahav A, Maya I, Straussberg R, Dahary D, Haviv A, Shohat M, Basel-Vanagaite L. Hellman-Aharony S, et al. Among authors: shohat m. Pediatr Neurol. 2013 Dec;49(6):411-416.e1. doi: 10.1016/j.pediatrneurol.2013.07.017. Epub 2013 Sep 29. Pediatr Neurol. 2013. PMID: 24084144
317 results