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Infantile cerebral and cerebellar atrophy is associated with a mutation in the MED17 subunit of the transcription preinitiation mediator complex.
Kaufmann R, Straussberg R, Mandel H, Fattal-Valevski A, Ben-Zeev B, Naamati A, Shaag A, Zenvirt S, Konen O, Mimouni-Bloch A, Dobyns WB, Edvardson S, Pines O, Elpeleg O. Kaufmann R, et al. Among authors: pines o. Am J Hum Genet. 2010 Nov 12;87(5):667-70. doi: 10.1016/j.ajhg.2010.09.016. Epub 2010 Oct 14. Am J Hum Genet. 2010. PMID: 20950787 Free PMC article.
Mutations in LPIN1 cause recurrent acute myoglobinuria in childhood.
Zeharia A, Shaag A, Houtkooper RH, Hindi T, de Lonlay P, Erez G, Hubert L, Saada A, de Keyzer Y, Eshel G, Vaz FM, Pines O, Elpeleg O. Zeharia A, et al. Among authors: pines o. Am J Hum Genet. 2008 Oct;83(4):489-94. doi: 10.1016/j.ajhg.2008.09.002. Epub 2008 Sep 25. Am J Hum Genet. 2008. PMID: 18817903 Free PMC article.
Agenesis of corpus callosum and optic nerve hypoplasia due to mutations in SLC25A1 encoding the mitochondrial citrate transporter.
Edvardson S, Porcelli V, Jalas C, Soiferman D, Kellner Y, Shaag A, Korman SH, Pierri CL, Scarcia P, Fraenkel ND, Segel R, Schechter A, Frumkin A, Pines O, Saada A, Palmieri L, Elpeleg O. Edvardson S, et al. Among authors: pines o. J Med Genet. 2013 Apr;50(4):240-5. doi: 10.1136/jmedgenet-2012-101485. Epub 2013 Feb 7. J Med Genet. 2013. PMID: 23393310
79 results