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Comprehensive genetic analyses of PLP1 in patients with Pelizaeus-Merzbacher disease applied by array-CGH and fiber-FISH analyses identified new mutations and variable sizes of duplications.
Shimojima K, Inoue T, Hoshino A, Kakiuchi S, Watanabe Y, Sasaki M, Nishimura A, Takeshita-Yanagisawa A, Tajima G, Ozawa H, Kubota M, Tohyama J, Sasaki M, Oka A, Saito K, Osawa M, Yamamoto T. Shimojima K, et al. Among authors: yamamoto t. Brain Dev. 2010 Mar;32(3):171-9. doi: 10.1016/j.braindev.2009.02.011. Epub 2009 Mar 27. Brain Dev. 2010. PMID: 19328639
A severe form of epidermal nevus syndrome associated with brainstem and cerebellar malformations and neonatal medulloblastoma.
Okumura A, Lee T, Ikeno M, Shimojima K, Kajino K, Inoue Y, Yoshikawa N, Suganuma H, Suzuki M, Hisata K, Shoji H, Takanashi J, Barkovich AJ, Shimizu T, Yamamoto T, Hayashi M. Okumura A, et al. Among authors: yamamoto t. Brain Dev. 2012 Nov;34(10):881-5. doi: 10.1016/j.braindev.2012.03.003. Epub 2012 Apr 7. Brain Dev. 2012. PMID: 22483529
MECP2 duplication syndrome in both genders.
Shimada S, Okamoto N, Ito M, Arai Y, Momosaki K, Togawa M, Maegaki Y, Sugawara M, Shimojima K, Osawa M, Yamamoto T. Shimada S, et al. Among authors: yamamoto t. Brain Dev. 2013 May;35(5):411-9. doi: 10.1016/j.braindev.2012.07.010. Epub 2012 Aug 9. Brain Dev. 2013. PMID: 22877836
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