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Homozygous MED25 mutation implicated in eye-intellectual disability syndrome.
Basel-Vanagaite L, Smirin-Yosef P, Essakow JL, Tzur S, Lagovsky I, Maya I, Pasmanik-Chor M, Yeheskel A, Konen O, Orenstein N, Weisz Hubshman M, Drasinover V, Magal N, Peretz Amit G, Zalzstein Y, Zeharia A, Shohat M, Straussberg R, Monté D, Salmon-Divon M, Behar DM. Basel-Vanagaite L, et al. Among authors: maya i. Hum Genet. 2015 Jun;134(6):577-87. doi: 10.1007/s00439-015-1541-x. Epub 2015 Mar 20. Hum Genet. 2015. PMID: 25792360 Clinical Trial.
Exploring the factors affecting classification and reporting of uncertain prenatal microarray findings, using a "virtual fetus" model-a pilot study.
Michaelson-Cohen R, Salzer LS, Brabbing-Goldstein D, Yaron Y, Reches A, Yonath H, Regev M, Shani H, Altarescu G, Segel R, Sukenik-Halevy R, Daum H, Harel T, Meiner V, Basel-Salmon L, Sagi-Dain L, Maya I. Michaelson-Cohen R, et al. Among authors: maya i. Prenat Diagn. 2024 Apr;44(4):511-518. doi: 10.1002/pd.6535. Epub 2024 Feb 14. Prenat Diagn. 2024. PMID: 38353311
RIN2 deficiency results in macrocephaly, alopecia, cutis laxa, and scoliosis: MACS syndrome.
Basel-Vanagaite L, Sarig O, Hershkovitz D, Fuchs-Telem D, Rapaport D, Gat A, Isman G, Shirazi I, Shohat M, Enk CD, Birk E, Kohlhase J, Matysiak-Scholze U, Maya I, Knopf C, Peffekoven A, Hennies HC, Bergman R, Horowitz M, Ishida-Yamamoto A, Sprecher E. Basel-Vanagaite L, et al. Among authors: maya i. Am J Hum Genet. 2009 Aug;85(2):254-63. doi: 10.1016/j.ajhg.2009.07.001. Epub 2009 Jul 23. Am J Hum Genet. 2009. PMID: 19631308 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: maya i. 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: maya i. 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
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: maya i. Pediatr Neurol. 2012 Jun;46(6):363-8. doi: 10.1016/j.pediatrneurol.2012.03.014. Pediatr Neurol. 2012. PMID: 22633631
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: maya i. 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
135 results