Takada F - Search Results

1

Improved library preparation protocols for amplicon sequencing-based noninvasive fetal genotyping for RHD-positive D antigen-negative alleles.

Hori A, Ogata-Kawata H, Sasaki A, Takahashi K, Taniguchi K, Migita O, Kawashima A, Okamoto A, Sekizawa A, Sago H, Takada F, Nakabayashi K, Hata K. Hori A, et al. Among authors: takada f. BMC Res Notes. 2021 Sep 26;14(1):380. doi: 10.1186/s13104-021-05793-4. BMC Res Notes. 2021. PMID: 34565457 Free PMC article.

2

A novel TAB2 mutation detected in a putative case of frontometaphyseal dysplasia.

Hori A, Migita O, Kawaguchi-Kawata R, Narumi-Kishimoto Y, Takada F, Hata K. Hori A, et al. Among authors: takada f. Hum Genome Var. 2021 Oct 29;8(1):40. doi: 10.1038/s41439-021-00166-6. Hum Genome Var. 2021. PMID: 34716296 Free PMC article.

3

A novel TP63 variant in a patient with ankyloblepharon-ectodermal defect-cleft lip/palate syndrome and Rapp-Hodgkin syndrome-like ectodermal dysplasia.

Hori A, Migita O, Isogawa N, Takada F, Hata K. Hori A, et al. Among authors: takada f. Hum Genome Var. 2022 May 20;9(1):17. doi: 10.1038/s41439-022-00186-w. Hum Genome Var. 2022. PMID: 35595744 Free PMC article.

4

Nationwide survey for current clinical status of amniocentesis and maternal serum marker test in Japan.

Miyake H, Yamada S, Fujii Y, Sawai H, Arimori N, Yamanouchi Y, Ozasa Y, Kanai M, Sago H, Sekizawa A, Takada F, Masuzaki H, Matsubara Y, Hirahara F, Kugu K. Miyake H, et al. Among authors: takada f. J Hum Genet. 2016 Oct;61(10):879-884. doi: 10.1038/jhg.2016.67. Epub 2016 Jun 30. J Hum Genet. 2016. PMID: 27357425

5

Novel SIN3A mutation identified in a Japanese patient with Witteveen-Kolk syndrome.

Narumi-Kishimoto Y, Araki N, Migita O, Kawai T, Okamura K, Nakabayashi K, Kaname T, Ozawa Y, Ozawa H, Takada F, Hata K. Narumi-Kishimoto Y, et al. Among authors: takada f. Eur J Med Genet. 2019 Sep;62(9):103547. doi: 10.1016/j.ejmg.2018.09.014. Epub 2018 Sep 26. Eur J Med Genet. 2019. PMID: 30267900 Free article. No abstract available.

6

Correction: Nationwide survey for current clinical status of amniocentesis and maternal serum marker test in Japan.

Miyake H, Yamada S, Fujii Y, Sawai H, Arimori N, Yamanouchi Y, Ozasa Y, Kanai M, Sago H, Sekizawa A, Takada F, Masuzaki H, Matsubara Y, Hirahara F, Kugu K. Miyake H, et al. Among authors: takada f. J Hum Genet. 2018 Nov;63(11):1195. doi: 10.1038/s10038-018-0500-5. Epub 2018 Aug 23. J Hum Genet. 2018. PMID: 30140059

7

Comprehensive and quantitative multilocus methylation analysis reveals the susceptibility of specific imprinted differentially methylated regions to aberrant methylation in Beckwith-Wiedemann syndrome with epimutations.

Maeda T, Higashimoto K, Jozaki K, Yatsuki H, Nakabayashi K, Makita Y, Tonoki H, Okamoto N, Takada F, Ohashi H, Migita M, Kosaki R, Matsubara K, Ogata T, Matsuo M, Hamasaki Y, Ohtsuka Y, Nishioka K, Joh K, Mukai T, Hata K, Soejima H. Maeda T, et al. Among authors: takada f. Genet Med. 2014 Dec;16(12):903-12. doi: 10.1038/gim.2014.46. Epub 2014 May 8. Genet Med. 2014. PMID: 24810686 Free PMC article.

8

Six years' accomplishment of the Initiative on Rare and Undiagnosed Diseases: nationwide project in Japan to discover causes, mechanisms, and cures.

Takahashi Y, Date H, Oi H, Adachi T, Imanishi N, Kimura E, Takizawa H, Kosugi S, Matsumoto N, Kosaki K, Matsubara Y; IRUD Consortium; Mizusawa H. Takahashi Y, et al. J Hum Genet. 2022 Sep;67(9):505-513. doi: 10.1038/s10038-022-01025-0. Epub 2022 Mar 23. J Hum Genet. 2022. PMID: 35318459 Free PMC article.

9

Identification of a novel missense mutation of MAF in a Japanese family with congenital cataract by whole exome sequencing: a clinical report and review of literature.

Narumi Y, Nishina S, Tokimitsu M, Aoki Y, Kosaki R, Wakui K, Azuma N, Murata T, Takada F, Fukushima Y, Kosho T. Narumi Y, et al. Among authors: takada f. Am J Med Genet A. 2014 May;164A(5):1272-6. doi: 10.1002/ajmg.a.36433. Epub 2014 Mar 24. Am J Med Genet A. 2014. PMID: 24664492 Review.

10

Physicians' opinion for 'new' genetic testing in Japan.

Ohata T, Tsuchiya A, Watanabe M, Sumida T, Takada F. Ohata T, et al. Among authors: takada f. J Hum Genet. 2009 Apr;54(4):203-8. doi: 10.1038/jhg.2009.11. Epub 2009 Mar 20. J Hum Genet. 2009. PMID: 19300458

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