Mizuno S - Search Results

1

Clinical variability in a Japanese hereditary lymphedema type I family with an FLT4 mutation.

Mizuno S, Yamada Y, Yamada K, Nomura N, Wakamatsu N. Mizuno S, et al. Congenit Anom (Kyoto). 2005 Jun;45(2):59-61. doi: 10.1111/j.1741-4520.2005.00064.x. Congenit Anom (Kyoto). 2005. PMID: 15904433

2

Two cases of partial trisomy 21 (pter-q22.1) without the major features of Down syndrome.

Kondo Y, Mizuno S, Ohara K, Nakamura T, Yamada K, Yamamori S, Hayakawa C, Ishii T, Yamada Y, Wakamatsu N. Kondo Y, et al. Among authors: mizuno s. Am J Med Genet A. 2006 Feb 1;140(3):227-32. doi: 10.1002/ajmg.a.31073. Am J Med Genet A. 2006. PMID: 16411203

3

Characterization of a de novo balanced t(4;20)(q33;q12) translocation in a patient with mental retardation.

Yamada K, Fukushi D, Ono T, Kondo Y, Kimura R, Nomura N, Kosaki KJ, Yamada Y, Mizuno S, Wakamatsu N. Yamada K, et al. Among authors: mizuno s. Am J Med Genet A. 2010 Dec;152A(12):3057-67. doi: 10.1002/ajmg.a.33174. Am J Med Genet A. 2010. PMID: 21086493

4

Clinical and genomic characterization of siblings with a distal duplication of chromosome 9q (9q34.1-qter).

Mizuno S, Fukushi D, Kimura R, Yamada K, Yamada Y, Kumagai T, Wakamatsu N. Mizuno S, et al. Am J Med Genet A. 2011 Sep;155A(9):2274-80. doi: 10.1002/ajmg.a.34160. Epub 2011 Aug 10. Am J Med Genet A. 2011. PMID: 21834029

5

MBTPS2 mutation causes BRESEK/BRESHECK syndrome.

Naiki M, Mizuno S, Yamada K, Yamada Y, Kimura R, Oshiro M, Okamoto N, Makita Y, Seishima M, Wakamatsu N. Naiki M, et al. Among authors: mizuno s. Am J Med Genet A. 2012 Jan;158A(1):97-102. doi: 10.1002/ajmg.a.34373. Epub 2011 Nov 21. Am J Med Genet A. 2012. PMID: 22105905

6

The spectrum of ZEB2 mutations causing the Mowat-Wilson syndrome in Japanese populations.

Yamada Y, Nomura N, Yamada K, Matsuo M, Suzuki Y, Sameshima K, Kimura R, Yamamoto Y, Fukushi D, Fukuhara Y, Ishihara N, Nishi E, Imataka G, Suzumura H, Hamano S, Shimizu K, Iwakoshi M, Ohama K, Ohta A, Wakamoto H, Kajita M, Miura K, Yokochi K, Kosaki K, Kuroda T, Kosaki R, Hiraki Y, Saito K, Mizuno S, Kurosawa K, Okamoto N, Wakamatsu N. Yamada Y, et al. Among authors: mizuno s. Am J Med Genet A. 2014 Aug;164A(8):1899-908. doi: 10.1002/ajmg.a.36551. Epub 2014 Apr 8. Am J Med Genet A. 2014. PMID: 24715670

7

Phenotype-genotype correlations of PIGO deficiency with variable phenotypes from infantile lethality to mild learning difficulties.

Tanigawa J, Mimatsu H, Mizuno S, Okamoto N, Fukushi D, Tominaga K, Kidokoro H, Muramatsu Y, Nishi E, Nakamura S, Motooka D, Nomura N, Hayasaka K, Niihori T, Aoki Y, Nabatame S, Hayakawa M, Natsume J, Ozono K, Kinoshita T, Wakamatsu N, Murakami Y. Tanigawa J, et al. Among authors: mizuno s. Hum Mutat. 2017 Jul;38(7):805-815. doi: 10.1002/humu.23219. Epub 2017 Apr 20. Hum Mutat. 2017. PMID: 28337824

8

Critical involvement of ZEB2 in collagen fibrillogenesis: the molecular similarity between Mowat-Wilson syndrome and Ehlers-Danlos syndrome.

Teraishi M, Takaishi M, Nakajima K, Ikeda M, Higashi Y, Shimoda S, Asada Y, Hijikata A, Ohara O, Hiraki Y, Mizuno S, Fukada T, Furukawa T, Wakamatsu N, Sano S. Teraishi M, et al. Among authors: mizuno s. Sci Rep. 2017 Apr 19;7:46565. doi: 10.1038/srep46565. Sci Rep. 2017. PMID: 28422173 Free PMC article.

9

The effect of rapamycin, NVP-BEZ235, aspirin, and metformin on PI3K/AKT/mTOR signaling pathway of PIK3CA-related overgrowth spectrum (PROS).

Suzuki Y, Enokido Y, Yamada K, Inaba M, Kuwata K, Hanada N, Morishita T, Mizuno S, Wakamatsu N. Suzuki Y, et al. Among authors: mizuno s. Oncotarget. 2017 Jul 11;8(28):45470-45483. doi: 10.18632/oncotarget.17566. Oncotarget. 2017. PMID: 28525374 Free PMC article.

10

Clinical and genetic characterization of a patient with SOX5 haploinsufficiency caused by a de novo balanced reciprocal translocation.

Fukushi D, Yamada K, Suzuki K, Inaba M, Nomura N, Suzuki Y, Katoh K, Mizuno S, Wakamatsu N. Fukushi D, et al. Among authors: mizuno s. Gene. 2018 May 20;655:65-70. doi: 10.1016/j.gene.2018.02.049. Epub 2018 Mar 22. Gene. 2018. PMID: 29477873

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