Yamasaki M - Search Results

1

Novel splicing mutation in the ASXL3 gene causing Bainbridge-Ropers syndrome.

Hori I, Miya F, Ohashi K, Negishi Y, Hattori A, Ando N, Okamoto N, Kato M, Tsunoda T, Yamasaki M, Kanemura Y, Kosaki K, Saitoh S. Hori I, et al. Among authors: yamasaki m. Am J Med Genet A. 2016 Jul;170(7):1863-7. doi: 10.1002/ajmg.a.37653. Epub 2016 Apr 13. Am J Med Genet A. 2016. PMID: 27075689

2

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: yamasaki m. 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

3

Novel MCA/ID syndrome with ASH1L mutation.

Okamoto N, Miya F, Tsunoda T, Kato M, Saitoh S, Yamasaki M, Kanemura Y, Kosaki K. Okamoto N, et al. Among authors: yamasaki m. Am J Med Genet A. 2017 Jun;173(6):1644-1648. doi: 10.1002/ajmg.a.38193. Epub 2017 Apr 10. Am J Med Genet A. 2017. PMID: 28394464

4

A novel missense mutation in the HECT domain of NEDD4L identified in a girl with periventricular nodular heterotopia, polymicrogyria and cleft palate.

Kato K, Miya F, Hori I, Ieda D, Ohashi K, Negishi Y, Hattori A, Okamoto N, Kato M, Tsunoda T, Yamasaki M, Kanemura Y, Kosaki K, Saitoh S. Kato K, et al. Among authors: yamasaki m. J Hum Genet. 2017 Sep;62(9):861-863. doi: 10.1038/jhg.2017.53. Epub 2017 May 18. J Hum Genet. 2017. PMID: 28515470

5

A novel genetic syndrome with STARD9 mutation and abnormal spindle morphology.

Okamoto N, Tsuchiya Y, Miya F, Tsunoda T, Yamashita K, Boroevich KA, Kato M, Saitoh S, Yamasaki M, Kanemura Y, Kosaki K, Kitagawa D. Okamoto N, et al. Among authors: yamasaki m. Am J Med Genet A. 2017 Oct;173(10):2690-2696. doi: 10.1002/ajmg.a.38391. Epub 2017 Aug 4. Am J Med Genet A. 2017. PMID: 28777490

6

A novel homozygous missense mutation in the SH3-binding motif of STAMBP causing microcephaly-capillary malformation syndrome.

Hori I, Miya F, Negishi Y, Hattori A, Ando N, Boroevich KA, Okamoto N, Kato M, Tsunoda T, Yamasaki M, Kanemura Y, Kosaki K, Saitoh S. Hori I, et al. Among authors: yamasaki m. J Hum Genet. 2018 Sep;63(9):957-963. doi: 10.1038/s10038-018-0482-3. Epub 2018 Jun 15. J Hum Genet. 2018. PMID: 29907875

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: yamasaki m. Clin Genet. 2015 Sep;88(3):288-92. doi: 10.1111/cge.12492. Epub 2014 Nov 13. Clin Genet. 2015. PMID: 25156961

8

First case of L1CAM gene mutation identified in MASA syndrome in Asia.

Kanemura Y, Takuma Y, Kamiguchi H, Yamasaki M. Kanemura Y, et al. Among authors: yamasaki m. Congenit Anom (Kyoto). 2005 Jun;45(2):67-9. doi: 10.1111/j.1741-4520.2005.00067.x. Congenit Anom (Kyoto). 2005. PMID: 15904436

9

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: yamasaki m. 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

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: yamasaki m. 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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