Yoshiura KI - Search Results

1

BCS1L mutations produce Fanconi syndrome with developmental disability.

Kanako KI, Sakakibara N, Murayama K, Nagatani K, Murata S, Otake A, Koga Y, Suzuki H, Uehara T, Kosaki K, Yoshiura KI, Mishima H, Ichimiya Y, Mushimoto Y, Horinouchi T, Nagano C, Yamamura T, Iijima K, Nozu K. Kanako KI, et al. Among authors: yoshiura ki. J Hum Genet. 2022 Mar;67(3):143-148. doi: 10.1038/s10038-021-00984-0. Epub 2021 Oct 15. J Hum Genet. 2022. PMID: 34650211

2

Nonaka myopathy is caused by mutations in the UDP-N-acetylglucosamine-2-epimerase/N-acetylmannosamine kinase gene (GNE).

Kayashima T, Matsuo H, Satoh A, Ohta T, Yoshiura K, Matsumoto N, Nakane Y, Niikawa N, Kishino T. Kayashima T, et al. J Hum Genet. 2002;47(2):77-9. doi: 10.1007/s100380200004. J Hum Genet. 2002. PMID: 11916006

3

A novel gene is disrupted at a 14q13 breakpoint of t(2;14) in a patient with mirror-image polydactyly of hands and feet.

Kondoh S, Sugawara H, Harada N, Matsumoto N, Ohashi H, Sato M, Kantaputra PN, Ogino T, Tomita H, Ohta T, Kishino T, Fukushima Y, Niikawa N, Yoshiura K. Kondoh S, et al. J Hum Genet. 2002;47(3):136-9. doi: 10.1007/s100380200015. J Hum Genet. 2002. PMID: 11954550

4

Paroxysmal kinesigenic choreoathetosis (PKC): confirmation of linkage to 16p11-q21, but unsuccessful detection of mutations among 157 genes at the PKC-critical region in seven PKC families.

Kikuchi T, Nomura M, Tomita H, Harada N, Kanai K, Konishi T, Yasuda A, Matsuura M, Kato N, Yoshiura KI, Niikawa N. Kikuchi T, et al. Among authors: yoshiura ki. J Hum Genet. 2007;52(4):334-341. doi: 10.1007/s10038-007-0116-7. Epub 2007 Feb 14. J Hum Genet. 2007. PMID: 17387577

5

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. Among authors: yoshiura ki. 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

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. 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

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. 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

8

Identification of novel schizophrenia loci by homozygosity mapping using DNA microarray analysis.

Kurotaki N, Tasaki S, Mishima H, Ono S, Imamura A, Kikuchi T, Nishida N, Tokunaga K, Yoshiura K, Ozawa H. Kurotaki N, et al. PLoS One. 2011;6(5):e20589. doi: 10.1371/journal.pone.0020589. Epub 2011 May 31. PLoS One. 2011. PMID: 21655227 Free PMC article.

9

Agile parallel bioinformatics workflow management using Pwrake.

Mishima H, Sasaki K, Tanaka M, Tatebe O, Yoshiura K. Mishima H, et al. BMC Res Notes. 2011 Sep 8;4:331. doi: 10.1186/1756-0500-4-331. BMC Res Notes. 2011. PMID: 21899774 Free PMC article.

10

Mutations in PRRT2 responsible for paroxysmal kinesigenic dyskinesias also cause benign familial infantile convulsions.

Ono S, Yoshiura K, Kinoshita A, Kikuchi T, Nakane Y, Kato N, Sadamatsu M, Konishi T, Nagamitsu S, Matsuura M, Yasuda A, Komine M, Kanai K, Inoue T, Osamura T, Saito K, Hirose S, Koide H, Tomita H, Ozawa H, Niikawa N, Kurotaki N. Ono S, et al. J Hum Genet. 2012 May;57(5):338-41. doi: 10.1038/jhg.2012.23. Epub 2012 Mar 8. J Hum Genet. 2012. PMID: 22399141

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