Muramatsu Y - Search Results

1

Factors related to home health-care transition in trisomy 13.

Kitase Y, Hayakawa M, Kondo T, Saito A, Tachibana T, Oshiro M, Ieda K, Kato E, Kato Y, Hattori T, Hayashi S, Ito M, Hyodo R, Muramatsu Y, Sato Y. Kitase Y, et al. Among authors: muramatsu y. Am J Med Genet A. 2017 Oct;173(10):2635-2640. doi: 10.1002/ajmg.a.38371. Epub 2017 Aug 29. Am J Med Genet A. 2017. PMID: 28856870

2

Progressive aortic root and pulmonary artery aneurysms in a neonate with Loeys-Dietz syndrome type 1B.

Muramatsu Y, Kosho T, Magota M, Yokotsuka T, Ito M, Yasuda A, Kito O, Suzuki C, Nagata Y, Kawai S, Ikoma M, Hatano T, Nakayama M, Kawamura R, Wakui K, Morisaki H, Morisaki T, Fukushima Y. Muramatsu Y, et al. Am J Med Genet A. 2010 Feb;152A(2):417-21. doi: 10.1002/ajmg.a.33263. Am J Med Genet A. 2010. PMID: 20101701

3

Factors related to survival discharge in trisomy 18: A retrospective multicenter study.

Kato E, Kitase Y, Tachibana T, Hattori T, Saito A, Muramatsu Y, Takemoto K, Yamamoto H, Hayashi S, Yasuda A, Kato Y, Ieda K, Oshiro M, Sato Y, Hayakawa M. Kato E, et al. Among authors: muramatsu y. Am J Med Genet A. 2019 Jul;179(7):1253-1259. doi: 10.1002/ajmg.a.61146. Epub 2019 Apr 3. Am J Med Genet A. 2019. PMID: 30942556

4

Findings of amplitude-integrated electroencephalogram recordings and serum vitamin B6 metabolites in perinatal lethal hypophosphatasia during enzyme replacement therapy.

Ishiguro T, Sugiyama Y, Ueda K, Muramatsu Y, Tsuda H, Kotani T, Michigami T, Tachikawa K, Akiyama T, Hayakawa M. Ishiguro T, et al. Among authors: muramatsu y. Brain Dev. 2019 Sep;41(8):721-725. doi: 10.1016/j.braindev.2019.03.015. Epub 2019 Apr 15. Brain Dev. 2019. PMID: 31000369

5

Prenatal diagnosis of distal 13q deletion syndrome in a fetus with esophageal atresia: a case report and review of the literature.

Kotani T, Tsuda H, Ito Y, Nakamura N, Ushida T, Imai K, Iitani Y, Fuma K, Muramatsu Y, Hayakawa M, Kajiyama H. Kotani T, et al. Among authors: muramatsu y. J Med Case Rep. 2022 Dec 27;16(1):481. doi: 10.1186/s13256-022-03713-z. J Med Case Rep. 2022. PMID: 36572904 Free PMC article. Review.

6

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: muramatsu y. Hum Mutat. 2017 Jul;38(7):805-815. doi: 10.1002/humu.23219. Epub 2017 Apr 20. Hum Mutat. 2017. PMID: 28337824

7

Prognosis of conventional vs. high-frequency ventilation for congenital diaphragmatic hernia: a retrospective cohort study.

Fuyuki M, Usui N, Taguchi T, Hayakawa M, Masumoto K, Kanamori Y, Amari S, Yamoto M, Urushihara N, Inamura N, Yokoi A, Okawada M, Okazaki T, Toyoshima K, Furukawa T, Terui K, Ohfuji S, Tazuke Y, Uchida K, Okuyama H; Japanese Congenital Diaphragmatic Hernia Study Group. Fuyuki M, et al. J Perinatol. 2021 Apr;41(4):814-823. doi: 10.1038/s41372-020-00833-6. Epub 2020 Nov 11. J Perinatol. 2021. PMID: 33177680

8

Target enrichment long-read sequencing with adaptive sampling can determine the structure of the small supernumerary marker chromosomes.

Mariya T, Kato T, Sugimoto T, Miyai S, Inagaki H, Ohye T, Sugihara E, Muramatsu Y, Mizuno S, Kurahashi H. Mariya T, et al. Among authors: muramatsu y. J Hum Genet. 2022 Jun;67(6):363-368. doi: 10.1038/s10038-021-01004-x. Epub 2022 Jan 14. J Hum Genet. 2022. PMID: 35027654

9

Disparities in visuo-spatial constructive abilities in Williams syndrome patients with typical deletion on chromosome 7q11.23.

Muramatsu Y, Tokita Y, Mizuno S, Nakamura M. Muramatsu Y, et al. Brain Dev. 2017 Feb;39(2):145-153. doi: 10.1016/j.braindev.2016.09.003. Epub 2016 Sep 29. Brain Dev. 2017. PMID: 27692871

10

Prenatal diagnosis of X-linked recessive Lenz microphthalmia syndrome.

Suzumori N, Kaname T, Muramatsu Y, Yanagi K, Kumagai K, Mizuno S, Naritomi K, Saitoh S, Sugiura-Ogasawara M. Suzumori N, et al. Among authors: muramatsu y. J Obstet Gynaecol Res. 2013 Nov;39(11):1545-7. doi: 10.1111/jog.12081. Epub 2013 Jul 2. J Obstet Gynaecol Res. 2013. PMID: 23815237

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