Yoshiura K - Search Results

1

Failure to confirm CNVs as of aetiological significance in twin pairs discordant for schizophrenia.

Ono S, Imamura A, Tasaki S, Kurotaki N, Ozawa H, Yoshiura K, Okazaki Y. Ono S, et al. Among authors: yoshiura k. Twin Res Hum Genet. 2010 Oct;13(5):455-60. doi: 10.1375/twin.13.5.455. Twin Res Hum Genet. 2010. PMID: 20874467 Free article.

2

Fifty microdeletions among 112 cases of Sotos syndrome: low copy repeats possibly mediate the common deletion.

Kurotaki N, Harada N, Shimokawa O, Miyake N, Kawame H, Uetake K, Makita Y, Kondoh T, Ogata T, Hasegawa T, Nagai T, Ozaki T, Touyama M, Shenhav R, Ohashi H, Medne L, Shiihara T, Ohtsu S, Kato Z, Okamoto N, Nishimoto J, Lev D, Miyoshi Y, Ishikiriyama S, Sonoda T, Sakazume S, Fukushima Y, Kurosawa K, Cheng JF, Yoshiura K, Ohta T, Kishino T, Niikawa N, Matsumoto N. Kurotaki N, et al. Among authors: yoshiura k. Hum Mutat. 2003 Nov;22(5):378-87. doi: 10.1002/humu.10270. Hum Mutat. 2003. PMID: 14517949

3

LRP5, low-density-lipoprotein-receptor-related protein 5, is a determinant for bone mineral density.

Mizuguchi T, Furuta I, Watanabe Y, Tsukamoto K, Tomita H, Tsujihata M, Ohta T, Kishino T, Matsumoto N, Minakami H, Niikawa N, Yoshiura KI. Mizuguchi T, et al. Among authors: yoshiura ki. J Hum Genet. 2004;49(2):80-86. doi: 10.1007/s10038-003-0111-6. Epub 2004 Jan 15. J Hum Genet. 2004. PMID: 14727154

4

Eosinophil infiltration in three patients with generalized atrophic benign epidermolysis bullosa from a Japanese family: molecular genetic and immunohistochemical studies.

Nomura M, Hamasaki YI, Katayama I, Abe K, Niikawa N, Yoshiura KI. Nomura M, et al. Among authors: yoshiura ki. J Hum Genet. 2005;50(9):483-489. doi: 10.1007/s10038-005-0282-4. Epub 2005 Sep 20. J Hum Genet. 2005. PMID: 16172808

5

Origin and mechanisms of formation of fetus-in-fetu: two cases with genotype and methylation analyses.

Miura S, Miura K, Yamamoto T, Yamanaka M, Saito K, Hirabuki T, Kurosawa K, Harada N, Ishizaki-Yamasaki Y, Matsumoto N, Hirahara F, Yoshiura K, Masuzaki H, Niikawa N. Miura S, et al. Among authors: yoshiura k. Am J Med Genet A. 2006 Aug 15;140(16):1737-43. doi: 10.1002/ajmg.a.31362. Am J Med Genet A. 2006. PMID: 16835914

6

Molecular karyotyping in 17 patients and mutation screening in 41 patients with Kabuki syndrome.

Kuniba H, Yoshiura K, Kondoh T, Ohashi H, Kurosawa K, Tonoki H, Nagai T, Okamoto N, Kato M, Fukushima Y, Kaname T, Naritomi K, Matsumoto T, Moriuchi H, Kishino T, Kinoshita A, Miyake N, Matsumoto N, Niikawa N. Kuniba H, et al. Among authors: yoshiura k. J Hum Genet. 2009 May;54(5):304-9. doi: 10.1038/jhg.2009.30. Epub 2009 Apr 3. J Hum Genet. 2009. PMID: 19343044

7

Search for genomic alterations in monozygotic twins discordant for cleft lip and/or palate.

Kimani JW, Yoshiura K, Shi M, Jugessur A, Moretti-Ferreira D, Christensen K, Murray JC. Kimani JW, et al. Among authors: yoshiura k. Twin Res Hum Genet. 2009 Oct;12(5):462-8. doi: 10.1375/twin.12.5.462. Twin Res Hum Genet. 2009. PMID: 19803774 Free PMC article.

8

A type of familial cleft of the soft palate maps to 2p24.2-p24.1 or 2p21-p12.

Tsuda M, Yamada T, Mikoya T, Sogabe I, Nakashima M, Minakami H, Kishino T, Kinoshita A, Niikawa N, Hirano A, Yoshiura K. Tsuda M, et al. Among authors: yoshiura k. J Hum Genet. 2010 Feb;55(2):124-6. doi: 10.1038/jhg.2009.131. Epub 2010 Jan 15. J Hum Genet. 2010. PMID: 20075946 Free article.

9

Novel mutations in the SIL1 gene in a Japanese pedigree with the Marinesco-Sjögren syndrome.

Takahata T, Yamada K, Yamada Y, Ono S, Kinoshita A, Matsuzaka T, Yoshiura K, Kitaoka T. Takahata T, et al. Among authors: yoshiura k. J Hum Genet. 2010 Mar;55(3):142-6. doi: 10.1038/jhg.2009.141. Epub 2010 Jan 29. J Hum Genet. 2010. PMID: 20111056

10

Clinical application of fetal sex determination using cell-free fetal DNA in pregnant carriers of X-linked genetic disorders.

Miura K, Higashijima A, Shimada T, Miura S, Yamasaki K, Abe S, Jo O, Kinoshita A, Yoshida A, Yoshimura S, Niikawa N, Yoshiura K, Masuzaki H. Miura K, et al. Among authors: yoshiura k. J Hum Genet. 2011 Apr;56(4):296-9. doi: 10.1038/jhg.2011.7. Epub 2011 Feb 10. J Hum Genet. 2011. PMID: 21307866

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