Dateki S - Search Results

1

Genetic background of hyperphenylalaninemia in Nagasaki, Japan.

Dateki S, Watanabe S, Nakatomi A, Kinoshita E, Matsumoto T, Yoshiura K, Moriuchi H. Dateki S, et al. Pediatr Int. 2016 May;58(5):431-3. doi: 10.1111/ped.12924. Pediatr Int. 2016. PMID: 27173423

2

A Japanese patient with a mild Lenz-Majewski syndrome.

Dateki S, Kondoh T, Nishimura G, Motomura K, Yoshiura KI, Kinoshita A, Kuniba H, Koga Y, Moriuchi H. Dateki S, et al. J Hum Genet. 2007;52(8):686-689. doi: 10.1007/s10038-007-0165-y. Epub 2007 Jun 26. J Hum Genet. 2007. PMID: 17593321

3

Differential T-cell response in a young child and neonates with toxic shock syndrome.

Dateki S, Kumamoto T, Takayanagi T, Ohki T, Takahashi N, Moriuchi H. Dateki S, et al. Pediatr Int. 2009 Feb;51(1):155-6. doi: 10.1111/j.1442-200X.2008.02779.x. Pediatr Int. 2009. PMID: 19371300 No abstract available.

4

Heterozygous orthodenticle homeobox 2 mutations are associated with variable pituitary phenotype.

Dateki S, Kosaka K, Hasegawa K, Tanaka H, Azuma N, Yokoya S, Muroya K, Adachi M, Tajima T, Motomura K, Kinoshita E, Moriuchi H, Sato N, Fukami M, Ogata T. Dateki S, et al. J Clin Endocrinol Metab. 2010 Feb;95(2):756-64. doi: 10.1210/jc.2009-1334. Epub 2009 Dec 4. J Clin Endocrinol Metab. 2010. PMID: 19965921

5

Mutation and gene copy number analyses of six pituitary transcription factor genes in 71 patients with combined pituitary hormone deficiency: identification of a single patient with LHX4 deletion.

Dateki S, Fukami M, Uematsu A, Kaji M, Iso M, Ono M, Mizota M, Yokoya S, Motomura K, Kinoshita E, Moriuchi H, Ogata T. Dateki S, et al. J Clin Endocrinol Metab. 2010 Aug;95(8):4043-7. doi: 10.1210/jc.2010-0150. Epub 2010 Jun 9. J Clin Endocrinol Metab. 2010. PMID: 20534763

6

Identification of chromosome 15q26 terminal deletion with telomere sequences and its bearing on genotype-phenotype analysis.

Dateki S, Fukami M, Tanaka Y, Sasaki G, Moriuchi H, Ogata T. Dateki S, et al. Endocr J. 2011;58(3):155-9. doi: 10.1507/endocrj.k10e-251. Epub 2011 Jan 14. Endocr J. 2011. PMID: 21242650 Free article.

7

Submicroscopic deletion involving the fibroblast growth factor receptor 1 gene in a patient with combined pituitary hormone deficiency.

Fukami M, Iso M, Sato N, Igarashi M, Seo M, Kazukawa I, Kinoshita E, Dateki S, Ogata T. Fukami M, et al. Among authors: dateki s. Endocr J. 2013;60(8):1013-20. doi: 10.1507/endocrj.ej13-0023. Epub 2013 May 9. Endocr J. 2013. PMID: 23657145 Free article.

8

SLC25A13 gene analysis in citrin deficiency: sixteen novel mutations in East Asian patients, and the mutation distribution in a large pediatric cohort in China.

Song YZ, Zhang ZH, Lin WX, Zhao XJ, Deng M, Ma YL, Guo L, Chen FP, Long XL, He XL, Sunada Y, Soneda S, Nakatomi A, Dateki S, Ngu LH, Kobayashi K, Saheki T. Song YZ, et al. Among authors: dateki s. PLoS One. 2013 Sep 19;8(9):e74544. doi: 10.1371/journal.pone.0074544. eCollection 2013. PLoS One. 2013. PMID: 24069319 Free PMC article.

9

Identification of 11p14.1-p15.3 deletion probably associated with short stature, relative macrocephaly, and delayed closure of the fontanelles.

Dateki S, Watanabe S, Kinoshita F, Yoshiura KI, Moriuchi H. Dateki S, et al. Am J Med Genet A. 2017 Jan;173(1):217-220. doi: 10.1002/ajmg.a.37978. Epub 2016 Sep 23. Am J Med Genet A. 2017. PMID: 27662520

10

Identification of a novel heterozygous mutation of the Aggrecan gene in a family with idiopathic short stature and multiple intervertebral disc herniation.

Dateki S, Nakatomi A, Watanabe S, Shimizu H, Inoue Y, Baba H, Yoshiura KI, Moriuchi H. Dateki S, et al. J Hum Genet. 2017 Jul;62(7):717-721. doi: 10.1038/jhg.2017.33. Epub 2017 Mar 23. J Hum Genet. 2017. PMID: 28331218

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