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Phenotype of a patient with pure partial trisomy 2p(p23-->pter).
Al-Saffar M, Lemyre E, Koenekoop R, Duncan AM, Der Kaloustian VM. Al-Saffar M, et al. Am J Med Genet. 2000 Oct 23;94(5):428-32. doi: 10.1002/1096-8628(20001023)94:5<428::aid-ajmg16>3.0.co;2-m. Am J Med Genet. 2000. PMID: 11050631 Review.
Mutations in PYCR2, Encoding Pyrroline-5-Carboxylate Reductase 2, Cause Microcephaly and Hypomyelination.
Nakayama T, Al-Maawali A, El-Quessny M, Rajab A, Khalil S, Stoler JM, Tan WH, Nasir R, Schmitz-Abe K, Hill RS, Partlow JN, Al-Saffar M, Servattalab S, LaCoursiere CM, Tambunan DE, Coulter ME, Elhosary PC, Gorski G, Barkovich AJ, Markianos K, Poduri A, Mochida GH. Nakayama T, et al. Am J Hum Genet. 2015 May 7;96(5):709-19. doi: 10.1016/j.ajhg.2015.03.003. Epub 2015 Apr 9. Am J Hum Genet. 2015. PMID: 25865492 Free PMC article.
Mutations in mitochondrial enzyme GPT2 cause metabolic dysfunction and neurological disease with developmental and progressive features.
Ouyang Q, Nakayama T, Baytas O, Davidson SM, Yang C, Schmidt M, Lizarraga SB, Mishra S, Ei-Quessny M, Niaz S, Gul Butt M, Imran Murtaza S, Javed A, Chaudhry HR, Vaughan DJ, Hill RS, Partlow JN, Yoo SY, Lam AT, Nasir R, Al-Saffar M, Barkovich AJ, Schwede M, Nagpal S, Rajab A, DeBerardinis RJ, Housman DE, Mochida GH, Morrow EM. Ouyang Q, et al. Proc Natl Acad Sci U S A. 2016 Sep 20;113(38):E5598-607. doi: 10.1073/pnas.1609221113. Epub 2016 Sep 6. Proc Natl Acad Sci U S A. 2016. PMID: 27601654 Free PMC article.
Mutations in Human Accelerated Regions Disrupt Cognition and Social Behavior.
Doan RN, Bae BI, Cubelos B, Chang C, Hossain AA, Al-Saad S, Mukaddes NM, Oner O, Al-Saffar M, Balkhy S, Gascon GG; Homozygosity Mapping Consortium for Autism; Nieto M, Walsh CA. Doan RN, et al. Cell. 2016 Oct 6;167(2):341-354.e12. doi: 10.1016/j.cell.2016.08.071. Epub 2016 Sep 22. Cell. 2016. PMID: 27667684 Free PMC article.
43 results