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

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

3

Three novel DNMT3B mutations in Japanese patients with ICF syndrome.

Shirohzu H, Kubota T, Kumazawa A, Sado T, Chijiwa T, Inagaki K, Suetake I, Tajima S, Wakui K, Miki Y, Hayashi M, Fukushima Y, Sasaki H. Shirohzu H, et al. Among authors: fukushima y. Am J Med Genet. 2002 Sep 15;112(1):31-7. doi: 10.1002/ajmg.10658. Am J Med Genet. 2002. PMID: 12239717

4

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

5

Molecular characterization of a novel translocation t(5;14)(q21;q32) in a patient with congenital abnormalities.

Haider S, Matsumoto R, Kurosawa N, Wakui K, Fukushima Y, Isobe M. Haider S, et al. Among authors: fukushima y. J Hum Genet. 2006;51(4):335-340. doi: 10.1007/s10038-006-0365-x. Epub 2006 Feb 24. J Hum Genet. 2006. PMID: 16498521

6

A genomewide linkage analysis of Kawasaki disease: evidence for linkage to chromosome 12.

Onouchi Y, Tamari M, Takahashi A, Tsunoda T, Yashiro M, Nakamura Y, Yanagawa H, Wakui K, Fukushima Y, Kawasaki T, Nakamura Y, Hata A. Onouchi Y, et al. Among authors: fukushima y. J Hum Genet. 2007;52(2):179-190. doi: 10.1007/s10038-006-0092-3. Epub 2006 Dec 8. J Hum Genet. 2007. PMID: 17160344

7

Nationwide survey on predictive genetic testing for late-onset, incurable neurological diseases in Japan.

Yoshida K, Wada T, Sakurai A, Wakui K, Ikeda SI, Fukushima Y. Yoshida K, et al. Among authors: fukushima y. J Hum Genet. 2007;52(8):675-679. doi: 10.1007/s10038-007-0170-1. Epub 2007 Jul 5. J Hum Genet. 2007. PMID: 17611709

8

Mandibuloacral dysplasia and a novel LMNA mutation in a woman with severe progressive skeletal changes.

Kosho T, Takahashi J, Momose T, Nakamura A, Sakurai A, Wada T, Yoshida K, Wakui K, Suzuki T, Kasuga K, Nishimura G, Kato H, Fukushima Y. Kosho T, et al. Among authors: fukushima y. Am J Med Genet A. 2007 Nov 1;143A(21):2598-603. doi: 10.1002/ajmg.a.31983. Am J Med Genet A. 2007. PMID: 17935239

9

De-novo balanced translocation between 7q31 and 10p14 in a girl with central precocious puberty, moderate mental retardation, and severe speech impairment.

Kosho T, Sakazume S, Kawame H, Wakui K, Wada T, Okoshi Y, Mikawa M, Hasegawa T, Matsuura N, Niikawa N, Matsumoto N, Fukushima Y. Kosho T, et al. Among authors: fukushima y. Clin Dysmorphol. 2008 Jan;17(1):31-34. doi: 10.1097/MCD.0b013e3282f17688. Clin Dysmorphol. 2008. PMID: 18049078

10

Bilateral perisylvian polymicrogyria, periventricular nodular heterotopia, and left ventricular noncompaction in a girl with 10.5-11.1 Mb terminal deletion of 1p36.

Saito S, Kawamura R, Kosho T, Shimizu T, Aoyama K, Koike K, Wada T, Matsumoto N, Kato M, Wakui K, Fukushima Y. Saito S, et al. Among authors: fukushima y. Am J Med Genet A. 2008 Nov 15;146A(22):2891-7. doi: 10.1002/ajmg.a.32556. Am J Med Genet A. 2008. PMID: 18925681

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