Dateki S - Search Results

1

Genetic abnormalities in a large cohort of Coffin-Siris syndrome patients.

Sekiguchi F, Tsurusaki Y, Okamoto N, Teik KW, Mizuno S, Suzumura H, Isidor B, Ong WP, Haniffa M, White SM, Matsuo M, Saito K, Phadke S, Kosho T, Yap P, Goyal M, Clarke LA, Sachdev R, McGillivray G, Leventer RJ, Patel C, Yamagata T, Osaka H, Hisaeda Y, Ohashi H, Shimizu K, Nagasaki K, Hamada J, Dateki S, Sato T, Chinen Y, Awaya T, Kato T, Iwanaga K, Kawai M, Matsuoka T, Shimoji Y, Tan TY, Kapoor S, Gregersen N, Rossi M, Marie-Laure M, McGregor L, Oishi K, Mehta L, Gillies G, Lockhart PJ, Pope K, Shukla A, Girisha KM, Abdel-Salam GMH, Mowat D, Coman D, Kim OH, Cordier MP, Gibson K, Milunsky J, Liebelt J, Cox H, El Chehadeh S, Toutain A, Saida K, Aoi H, Minase G, Tsuchida N, Iwama K, Uchiyama Y, Suzuki T, Hamanaka K, Azuma Y, Fujita A, Imagawa E, Koshimizu E, Takata A, Mitsuhashi S, Miyatake S, Mizuguchi T, Miyake N, Matsumoto N. Sekiguchi F, et al. Among authors: dateki s. J Hum Genet. 2019 Dec;64(12):1173-1186. doi: 10.1038/s10038-019-0667-4. Epub 2019 Sep 17. J Hum Genet. 2019. PMID: 31530938

2

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

3

Mutation spectrum and phenotypic variation in nine patients with SOX2 abnormalities.

Suzuki J, Azuma N, Dateki S, Soneda S, Muroya K, Yamamoto Y, Saito R, Sano S, Nagai T, Wada H, Endo A, Urakami T, Ogata T, Fukami M. Suzuki J, et al. Among authors: dateki s. J Hum Genet. 2014 Jun;59(6):353-6. doi: 10.1038/jhg.2014.34. Epub 2014 May 8. J Hum Genet. 2014. PMID: 24804704

4

Systematic molecular analyses of SHOX in Japanese patients with idiopathic short stature and Leri-Weill dyschondrosteosis.

Shima H, Tanaka T, Kamimaki T, Dateki S, Muroya K, Horikawa R, Kanno J, Adachi M, Naiki Y, Tanaka H, Mabe H, Yagasaki H, Kure S, Matsubara Y, Tajima T, Kashimada K, Ishii T, Asakura Y, Fujiwara I, Soneda S, Nagasaki K, Hamajima T, Kanzaki S, Jinno T, Ogata T, Fukami M; Japanese SHOX study group. Shima H, et al. Among authors: dateki s. J Hum Genet. 2016 Jul;61(7):585-91. doi: 10.1038/jhg.2016.18. Epub 2016 Mar 17. J Hum Genet. 2016. PMID: 26984564

5

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

6

A hot-spot mutation in CDC42 (p.Tyr64Cys) and novel phenotypes in the third patient with Takenouchi-Kosaki syndrome.

Motokawa M, Watanabe S, Nakatomi A, Kondoh T, Matsumoto T, Morifuji K, Sawada H, Nishimura T, Nunoi H, Yoshiura KI, Moriuchi H, Dateki S. Motokawa M, et al. Among authors: dateki s. J Hum Genet. 2018 Mar;63(3):387-390. doi: 10.1038/s10038-017-0396-5. Epub 2018 Jan 15. J Hum Genet. 2018. PMID: 29335451 Free article.

7

A homozygous splice site ROBO1 mutation in a patient with a novel syndrome with combined pituitary hormone deficiency.

Dateki S, Watanabe S, Mishima H, Shirakawa T, Morikawa M, Kinoshita E, Yoshiura KI, Moriuchi H. Dateki S, et al. J Hum Genet. 2019 Apr;64(4):341-346. doi: 10.1038/s10038-019-0566-8. Epub 2019 Jan 28. J Hum Genet. 2019. PMID: 30692597

8

Identification of a homozygous frameshift variant in RFLNA in a patient with a typical phenotype of spondylocarpotarsal synostosis syndrome.

Shimizu H, Watanabe S, Kinoshita A, Mishima H, Nishimura G, Moriuchi H, Yoshiura KI, Dateki S. Shimizu H, et al. Among authors: dateki s. J Hum Genet. 2019 May;64(5):467-471. doi: 10.1038/s10038-019-0581-9. Epub 2019 Feb 22. J Hum Genet. 2019. PMID: 30796325

9

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

10

Rare pseudoautosomal copy-number variations involving SHOX and/or its flanking regions in individuals with and without short stature.

Fukami M, Naiki Y, Muroya K, Hamajima T, Soneda S, Horikawa R, Jinno T, Katsumi M, Nakamura A, Asakura Y, Adachi M, Ogata T, Kanzaki S; Japanese SHOX study group. Fukami M, et al. J Hum Genet. 2015 Sep;60(9):553-6. doi: 10.1038/jhg.2015.53. Epub 2015 Jun 4. J Hum Genet. 2015. PMID: 26040210

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