Fukushima Y - Search Results

1

Maternal Uniparental Disomy for Chromosome 20: Physical and Endocrinological Characteristics of Five Patients.

Kawashima S, Nakamura A, Inoue T, Matsubara K, Horikawa R, Wakui K, Takano K, Fukushima Y, Tatematsu T, Mizuno S, Tsubaki J, Kure S, Matsubara Y, Ogata T, Fukami M, Kagami M. Kawashima S, et al. Among authors: fukushima y. J Clin Endocrinol Metab. 2018 Jun 1;103(6):2083-2088. doi: 10.1210/jc.2017-02780. J Clin Endocrinol Metab. 2018. PMID: 29878129

2

A novel heterozygous MAP2K1 mutation in a patient with Noonan syndrome with multiple lentigines.

Nishi E, Mizuno S, Nanjo Y, Niihori T, Fukushima Y, Matsubara Y, Aoki Y, Kosho T. Nishi E, et al. Among authors: fukushima y. Am J Med Genet A. 2015 Feb;167A(2):407-11. doi: 10.1002/ajmg.a.36842. Epub 2014 Nov 25. Am J Med Genet A. 2015. PMID: 25423878

3

Ring chromosome 21 in a boy and a derivative chromosome 21 in the mother: implication for ring chromosome formation.

Muroya K, Yamamoto K, Fukushima Y, Ogata T. Muroya K, et al. Among authors: fukushima y. Am J Med Genet. 2002 Jul 15;110(4):332-7. doi: 10.1002/ajmg.10466. Am J Med Genet. 2002. PMID: 12116206

4

Elevation of neuron specific enolase and brain iron deposition on susceptibility-weighted imaging as diagnostic clues for beta-propeller protein-associated neurodegeneration in early childhood: Additional case report and review of the literature.

Takano K, Shiba N, Wakui K, Yamaguchi T, Aida N, Inaba Y, Fukushima Y, Kosho T. Takano K, et al. Among authors: fukushima y. Am J Med Genet A. 2016 Feb;170A(2):322-328. doi: 10.1002/ajmg.a.37432. Epub 2015 Oct 20. Am J Med Genet A. 2016. PMID: 26481852 Review.

5

Early manifestations of epileptic encephalopathy, brain atrophy, and elevation of serum neuron specific enolase in a boy with beta-propeller protein-associated neurodegeneration.

Takano K, Goto K, Motobayashi M, Wakui K, Kawamura R, Yamaguchi T, Fukushima Y, Kosho T. Takano K, et al. Among authors: fukushima y. Eur J Med Genet. 2017 Oct;60(10):521-526. doi: 10.1016/j.ejmg.2017.07.008. Epub 2017 Jul 12. Eur J Med Genet. 2017. PMID: 28711740

6

PIEZO2 deficiency is a recognizable arthrogryposis syndrome: A new case and literature review.

Yamaguchi T, Takano K, Inaba Y, Morikawa M, Motobayashi M, Kawamura R, Wakui K, Nishi E, Hirabayashi SI, Fukushima Y, Kato H, Takahashi J, Kosho T. Yamaguchi T, et al. Among authors: fukushima y. Am J Med Genet A. 2019 Jun;179(6):948-957. doi: 10.1002/ajmg.a.61142. Epub 2019 Apr 2. Am J Med Genet A. 2019. PMID: 30941898 Review.

7

Microarray and FISH-based genotype-phenotype analysis of 22 Japanese patients with Wolf-Hirschhorn syndrome.

Shimizu K, Wakui K, Kosho T, Okamoto N, Mizuno S, Itomi K, Hattori S, Nishio K, Samura O, Kobayashi Y, Kako Y, Arai T, Tsutomu OI, Kawame H, Narumi Y, Ohashi H, Fukushima Y. Shimizu K, et al. Among authors: fukushima y. Am J Med Genet A. 2014 Mar;164A(3):597-609. doi: 10.1002/ajmg.a.36308. Epub 2013 Dec 19. Am J Med Genet A. 2014. PMID: 24357569

8

Visualization of the spatial positioning of the SNRPN, UBE3A, and GABRB3 genes in the normal human nucleus by three-color 3D fluorescence in situ hybridization.

Kawamura R, Tanabe H, Wada T, Saitoh S, Fukushima Y, Wakui K. Kawamura R, et al. Among authors: fukushima y. Chromosome Res. 2012 Aug;20(6):659-72. doi: 10.1007/s10577-012-9300-5. Epub 2012 Jul 17. Chromosome Res. 2012. PMID: 22801776 Free PMC article.

9

A novel frameshift mutation of SYNE1 in a Japanese family with autosomal recessive cerebellar ataxia type 8.

Yoshinaga T, Nakamura K, Ishikawa M, Yamaguchi T, Takano K, Wakui K, Kosho T, Yoshida K, Fukushima Y, Sekijima Y. Yoshinaga T, et al. Among authors: fukushima y. Hum Genome Var. 2017 Oct 26;4:17052. doi: 10.1038/hgv.2017.52. eCollection 2017. Hum Genome Var. 2017. PMID: 29081981 Free PMC article.

10

Familial 14-Mb deletion at 21q11.2-q21.3 and variable phenotypic expression.

Wakui K, Toyoda A, Kubota T, Hidaka E, Ishikawa M, Katsuyama T, Sakaki Y, Hattori M, Fukushima Y. Wakui K, et al. Among authors: fukushima y. J Hum Genet. 2002;47(10):511-6. doi: 10.1007/s100380200076. J Hum Genet. 2002. PMID: 12376739

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