Dateki S - Search Results

1

Improved sensitivity and specificity for citrin deficiency using selected amino acids and acylcarnitines in the newborn screening.

Kido J, Häberle J, Tanaka T, Nagao M, Wada Y, Numakura C, Bo R, Nyuzuki H, Dateki S, Maruyama S, Murayama K, Yoshida S, Nakamura K. Kido J, et al. Among authors: dateki s. J Inherit Metab Dis. 2023 Sep 8. doi: 10.1002/jimd.12673. Online ahead of print. J Inherit Metab Dis. 2023. PMID: 37681292

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

A novel loss-of-function mutation in OTX2 in a patient with anophthalmia and isolated growth hormone deficiency.

Ashkenazi-Hoffnung L, Lebenthal Y, Wyatt AW, Ragge NK, Dateki S, Fukami M, Ogata T, Phillip M, Gat-Yablonski G. Ashkenazi-Hoffnung L, et al. Among authors: dateki s. Hum Genet. 2010 Jun;127(6):721-9. doi: 10.1007/s00439-010-0820-9. Epub 2010 Apr 16. Hum Genet. 2010. PMID: 20396904

4

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.

5

Identification and characterization of cryptic SHOX intragenic deletions in three Japanese patients with Léri-Weill dyschondrosteosis.

Fukami M, Dateki S, Kato F, Hasegawa Y, Mochizuki H, Horikawa R, Ogata T. Fukami M, et al. Among authors: dateki s. J Hum Genet. 2008;53(5):454-459. doi: 10.1007/s10038-008-0269-z. Epub 2008 Mar 6. J Hum Genet. 2008. PMID: 18322641

6

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.

7

Maternally derived 15q11.2-q13.1 duplication and H19-DMR hypomethylation in a patient with Silver-Russell syndrome.

Dateki S, Kagami M, Matsubara K, Izumi K, Watanabe S, Nakatomi A, Kondoh T, Fukami M, Moriuchi H. Dateki S, et al. J Hum Genet. 2017 Oct;62(10):919-922. doi: 10.1038/jhg.2017.62. Epub 2017 Jun 8. J Hum Genet. 2017. PMID: 28592837

8

OTX2 mutation in a patient with anophthalmia, short stature, and partial growth hormone deficiency: functional studies using the IRBP, HESX1, and POU1F1 promoters.

Dateki S, Fukami M, Sato N, Muroya K, Adachi M, Ogata T. Dateki S, et al. J Clin Endocrinol Metab. 2008 Oct;93(10):3697-702. doi: 10.1210/jc.2008-0720. Epub 2008 Jul 15. J Clin Endocrinol Metab. 2008. PMID: 18628516

9

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.

10

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

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