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Attitudes toward and current status of disclosure of secondary findings from next-generation sequencing: a nation-wide survey of clinical genetics professionals in Japan.
Tsuchiya M, Yamada T, Akaishi R, Hamanoue H, Hirasawa A, Hyodo M, Imoto I, Kosho T, Kurosawa K, Murakami H, Nakatani K, Nomura F, Sasaki A, Shimizu K, Tamai M, Umemura H, Watanabe A, Yoshida A, Yoshihashi H, Yotsumoto J, Kosugi S. Tsuchiya M, et al. Among authors: shimizu k. J Hum Genet. 2020 Dec;65(12):1045-1053. doi: 10.1038/s10038-020-0802-2. Epub 2020 Jul 13. J Hum Genet. 2020. PMID: 32661284 Free article.
Clinical consequences in truncating mutations in exon 34 of NOTCH2: report of six patients with Hajdu-Cheney syndrome and a patient with serpentine fibula polycystic kidney syndrome.
Narumi Y, Min BJ, Shimizu K, Kazukawa I, Sameshima K, Nakamura K, Kosho T, Rhee Y, Chung YS, Kim OH, Fukushima Y, Park WY, Nishimura G. Narumi Y, et al. Among authors: shimizu k. Am J Med Genet A. 2013 Mar;161A(3):518-26. doi: 10.1002/ajmg.a.35772. Epub 2013 Feb 7. Am J Med Genet A. 2013. PMID: 23401378
Japanese founder duplications/triplications involving BHLHA9 are associated with split-hand/foot malformation with or without long bone deficiency and Gollop-Wolfgang complex.
Nagata E, Kano H, Kato F, Yamaguchi R, Nakashima S, Takayama S, Kosaki R, Tonoki H, Mizuno S, Watanabe S, Yoshiura K, Kosho T, Hasegawa T, Kimizuka M, Suzuki A, Shimizu K, Ohashi H, Haga N, Numabe H, Horii E, Nagai T, Yoshihashi H, Nishimura G, Toda T, Takada S, Yokoyama S, Asahara H, Sano S, Fukami M, Ikegawa S, Ogata T. Nagata E, et al. Among authors: shimizu k. Orphanet J Rare Dis. 2014 Oct 21;9:125. doi: 10.1186/s13023-014-0125-5. Orphanet J Rare Dis. 2014. PMID: 25351291 Free PMC article.
Exploring the unique function of imprinting control centers in the PWS/AS-responsible region: finding from array-based methylation analysis in cases with variously sized microdeletions.
Matsubara K, Itoh M, Shimizu K, Saito S, Enomoto K, Nakabayashi K, Hata K, Kurosawa K, Ogata T, Fukami M, Kagami M. Matsubara K, et al. Among authors: shimizu k. Clin Epigenetics. 2019 Feb 28;11(1):36. doi: 10.1186/s13148-019-0633-1. Clin Epigenetics. 2019. PMID: 30819260 Free PMC article.
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: shimizu k. 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
De novo heterozygous variants in KIF5B cause kyphomelic dysplasia.
Itai T, Wang Z, Nishimura G, Ohashi H, Guo L, Wakano Y, Sugiura T, Hayakawa H, Okada M, Saisu T, Kitta A, Doi H, Kurosawa K, Hotta Y, Hosono K, Sato M, Shimizu K, Takikawa K, Watanabe S, Ikeda N, Suzuki M, Fujita A, Uchiyama Y, Tsuchida N, Miyatake S, Miyake N, Matsumoto N, Ikegawa S. Itai T, et al. Among authors: shimizu k. Clin Genet. 2022 Jul;102(1):3-11. doi: 10.1111/cge.14133. Epub 2022 Apr 5. Clin Genet. 2022. PMID: 35342932
The spectrum of ZEB2 mutations causing the Mowat-Wilson syndrome in Japanese populations.
Yamada Y, Nomura N, Yamada K, Matsuo M, Suzuki Y, Sameshima K, Kimura R, Yamamoto Y, Fukushi D, Fukuhara Y, Ishihara N, Nishi E, Imataka G, Suzumura H, Hamano S, Shimizu K, Iwakoshi M, Ohama K, Ohta A, Wakamoto H, Kajita M, Miura K, Yokochi K, Kosaki K, Kuroda T, Kosaki R, Hiraki Y, Saito K, Mizuno S, Kurosawa K, Okamoto N, Wakamatsu N. Yamada Y, et al. Among authors: shimizu k. Am J Med Genet A. 2014 Aug;164A(8):1899-908. doi: 10.1002/ajmg.a.36551. Epub 2014 Apr 8. Am J Med Genet A. 2014. PMID: 24715670
7,175 results