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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: har zahav a. 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.
SOBP is mutated in syndromic and nonsyndromic intellectual disability and is highly expressed in the brain limbic system.
Birk E, Har-Zahav A, Manzini CM, Pasmanik-Chor M, Kornreich L, Walsh CA, Noben-Trauth K, Albin A, Simon AJ, Colleaux L, Morad Y, Rainshtein L, Tischfield DJ, Wang P, Magal N, Maya I, Shoshani N, Rechavi G, Gothelf D, Maydan G, Shohat M, Basel-Vanagaite L. Birk E, et al. Among authors: har zahav a. Am J Hum Genet. 2010 Nov 12;87(5):694-700. doi: 10.1016/j.ajhg.2010.10.005. Epub 2010 Oct 28. Am J Hum Genet. 2010. PMID: 21035105 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: har zahav a. 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
Deficiency for the ubiquitin ligase UBE3B in a blepharophimosis-ptosis-intellectual-disability syndrome.
Basel-Vanagaite L, Dallapiccola B, Ramirez-Solis R, Segref A, Thiele H, Edwards A, Arends MJ, Miró X, White JK, Désir J, Abramowicz M, Dentici ML, Lepri F, Hofmann K, Har-Zahav A, Ryder E, Karp NA, Estabel J, Gerdin AK, Podrini C, Ingham NJ, Altmüller J, Nürnberg G, Frommolt P, Abdelhak S, Pasmanik-Chor M, Konen O, Kelley RI, Shohat M, Nürnberg P, Flint J, Steel KP, Hoppe T, Kubisch C, Adams DJ, Borck G. Basel-Vanagaite L, et al. Among authors: har zahav a. Am J Hum Genet. 2012 Dec 7;91(6):998-1010. doi: 10.1016/j.ajhg.2012.10.011. Epub 2012 Nov 29. Am J Hum Genet. 2012. PMID: 23200864 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: har zahav a. 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
Microcephaly-thin corpus callosum syndrome maps to 8q23.2-q24.12.
Halevy A, Basel-Vanagaite L, Shuper A, Helman S, Har-Zahav A, Birk E, Maya I, Kornreich L, Inbar D, Nürnberg G, Nürnberg P, Steinberg T, Straussberg R. Halevy A, et al. Among authors: har zahav a. Pediatr Neurol. 2012 Jun;46(6):363-8. doi: 10.1016/j.pediatrneurol.2012.03.014. Pediatr Neurol. 2012. PMID: 22633631
Periductal bile acid exposure causes cholangiocyte injury and fibrosis.
Dotan M, Fried S, Har-Zahav A, Shamir R, Wells RG, Waisbourd-Zinman O. Dotan M, et al. Among authors: har zahav a. PLoS One. 2022 Mar 16;17(3):e0265418. doi: 10.1371/journal.pone.0265418. eCollection 2022. PLoS One. 2022. PMID: 35294492 Free PMC article.
17 results