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Distinctive Brain Malformations in Zhu-Tokita-Takenouchi-Kim Syndrome.
Halliday BJ, Baynam G, Ewans L, Greenhalgh L, Leventer RJ, Pilz DT, Sachdev R, Scheffer IE, Markie DM, McGillivray G, Robertson SP, Mandelstam S. Halliday BJ, et al. Among authors: markie dm. AJNR Am J Neuroradiol. 2022 Nov;43(11):1660-1666. doi: 10.3174/ajnr.A7663. Epub 2022 Oct 13. AJNR Am J Neuroradiol. 2022. PMID: 36229163 Free PMC article.
A Primate-Specific Isoform of PLEKHG6 Regulates Neurogenesis and Neuronal Migration.
O'Neill AC, Kyrousi C, Klaus J, Leventer RJ, Kirk EP, Fry A, Pilz DT, Morgan T, Jenkins ZA, Drukker M, Berkovic SF, Scheffer IE, Guerrini R, Markie DM, Götz M, Cappello S, Robertson SP. O'Neill AC, et al. Among authors: markie dm. Cell Rep. 2018 Dec 4;25(10):2729-2741.e6. doi: 10.1016/j.celrep.2018.11.029. Cell Rep. 2018. PMID: 30517861 Free article.
Wilms tumor in patients with osteopathia striata with cranial sclerosis.
Bach A, Mi J, Hunter M, Halliday BJ, García-Miñaúr S, Sperotto F, Trevisson E, Markie D, Morison IM, Shinawi M, Willis DN, Robertson SP. Bach A, et al. Eur J Hum Genet. 2021 Mar;29(3):396-401. doi: 10.1038/s41431-020-00718-4. Epub 2020 Sep 2. Eur J Hum Genet. 2021. PMID: 32879452 Free PMC article.
Differential regulation of two FLNA transcripts explains some of the phenotypic heterogeneity in the loss-of-function filaminopathies.
Jenkins ZA, Macharg A, Chang CY, van Kogelenberg M, Morgan T, Frentz S, Wei W, Pilch J, Hannibal M, Foulds N, McGillivray G, Leventer RJ, García-Miñaúr S, Sugito S, Nightingale S, Markie DM, Dudding T, Kapur RP, Robertson SP. Jenkins ZA, et al. Among authors: markie dm. Hum Mutat. 2018 Jan;39(1):103-113. doi: 10.1002/humu.23355. Epub 2017 Nov 2. Hum Mutat. 2018. PMID: 29024177
73 results