Kanemura Y - Search Results

1

Homozygous ADCY5 mutation causes early-onset movement disorder with severe intellectual disability.

Okamoto N, Miya F, Kitai Y, Tsunoda T, Kato M, Saitoh S, Kanemura Y, Kosaki K. Okamoto N, et al. Among authors: kanemura y. Neurol Sci. 2021 Jul;42(7):2975-2978. doi: 10.1007/s10072-021-05152-y. Epub 2021 Mar 11. Neurol Sci. 2021. PMID: 33704598

2

Hydrocephalus and Hirschsprung's disease with a mutation of L1CAM.

Okamoto N, Del Maestro R, Valero R, Monros E, Poo P, Kanemura Y, Yamasaki M. Okamoto N, et al. Among authors: kanemura y. J Hum Genet. 2004;49(6):334-337. doi: 10.1007/s10038-004-0153-4. Epub 2004 May 18. J Hum Genet. 2004. PMID: 15148591

3

Molecular mechanisms and neuroimaging criteria for severe L1 syndrome with X-linked hydrocephalus.

Kanemura Y, Okamoto N, Sakamoto H, Shofuda T, Kamiguchi H, Yamasaki M. Kanemura Y, et al. J Neurosurg. 2006 Nov;105(5 Suppl):403-12. doi: 10.3171/ped.2006.105.5.403. J Neurosurg. 2006. PMID: 17328266

4

Recombination rates of genes expressed in human tissues.

Kato M, Miya F, Kanemura Y, Tanaka T, Nakamura Y, Tsunoda T. Kato M, et al. Among authors: kanemura y. Hum Mol Genet. 2008 Feb 15;17(4):577-86. doi: 10.1093/hmg/ddm332. Epub 2007 Nov 13. Hum Mol Genet. 2008. PMID: 18000027

5

Two new cases of pure 1q terminal deletion presenting with brain malformations.

Hiraki Y, Okamoto N, Ida T, Nakata Y, Kamada M, Kanemura Y, Yamasaki M, Fujita H, Nishimura G, Kato M, Harada N, Matsumoto N. Hiraki Y, et al. Among authors: kanemura y. Am J Med Genet A. 2008 May 15;146A(10):1241-7. doi: 10.1002/ajmg.a.32275. Am J Med Genet A. 2008. PMID: 18384145

6

Hydrocephalus with Hirschsprung disease: severe end of X-linked hydrocephalus spectrum.

Takenouchi T, Nakazawa M, Kanemura Y, Shimozato S, Yamasaki M, Takahashi T, Kosaki K. Takenouchi T, et al. Among authors: kanemura y. Am J Med Genet A. 2012 Apr;158A(4):812-5. doi: 10.1002/ajmg.a.35245. Epub 2012 Feb 21. Am J Med Genet A. 2012. PMID: 22354677

7

Targeted next-generation sequencing in the diagnosis of neurodevelopmental disorders.

Okamoto N, Miya F, Tsunoda T, Kato M, Saitoh S, Yamasaki M, Shimizu A, Torii C, Kanemura Y, Kosaki K. Okamoto N, et al. Among authors: kanemura y. Clin Genet. 2015 Sep;88(3):288-92. doi: 10.1111/cge.12492. Epub 2014 Nov 13. Clin Genet. 2015. PMID: 25156961

8

KIF1A mutation in a patient with progressive neurodegeneration.

Okamoto N, Miya F, Tsunoda T, Yanagihara K, Kato M, Saitoh S, Yamasaki M, Kanemura Y, Kosaki K. Okamoto N, et al. Among authors: kanemura y. J Hum Genet. 2014 Nov;59(11):639-41. doi: 10.1038/jhg.2014.80. Epub 2014 Sep 25. J Hum Genet. 2014. PMID: 25253658

9

Sudden death in a case of megalencephaly capillary malformation associated with a de novo mutation in AKT3.

Harada A, Miya F, Utsunomiya H, Kato M, Yamanaka T, Tsunoda T, Kosaki K, Kanemura Y, Yamasaki M. Harada A, et al. Among authors: kanemura y. Childs Nerv Syst. 2015 Mar;31(3):465-71. doi: 10.1007/s00381-014-2589-y. Epub 2014 Nov 22. Childs Nerv Syst. 2015. PMID: 25416470

10

Primary microcephaly with anterior predominant pachygyria caused by novel compound heterozygous mutations in ASPM.

Nakamura K, Inui T, Miya F, Kanemura Y, Okamoto N, Saitoh S, Yamasaki M, Tsunoda T, Kosaki K, Tanaka S, Kato M. Nakamura K, et al. Among authors: kanemura y. Pediatr Neurol. 2015 May;52(5):e7-8. doi: 10.1016/j.pediatrneurol.2015.01.019. Epub 2015 Feb 7. Pediatr Neurol. 2015. PMID: 25765464 No abstract available.

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