Yoshiura KI - Search Results

1

PRRT2 mutation in a Japanese woman: Adult-onset focal epilepsy coexisting with movement disorders and cerebellar atrophy.

Motoyama R, Matsudaira T, Terada K, Usui N, Yoshiura KI, Takahashi Y. Motoyama R, et al. Among authors: yoshiura ki. Epilepsy Behav Rep. 2022 May 18;19:100554. doi: 10.1016/j.ebr.2022.100554. eCollection 2022. Epilepsy Behav Rep. 2022. PMID: 35712060 Free PMC article.

2

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

3

Proline-rich transmembrane protein 2 knock-in mice present dopamine-dependent motor deficits.

Hatta D, Kanamoto K, Makiya S, Watanabe K, Kishino T, Kinoshita A, Yoshiura KI, Kurotaki N, Shirotani K, Iwata N. Hatta D, et al. Among authors: yoshiura ki. J Biochem. 2023 Nov 30;174(6):561-570. doi: 10.1093/jb/mvad074. J Biochem. 2023. PMID: 37793168

4

Confirmation of genetic homogeneity of nonsyndromic low-frequency sensorineural hearing loss by linkage analysis and a DFNA6/14 mutation in a Japanese family.

Komatsu K, Nakamura N, Ghadami M, Matsumoto N, Kishino T, Ohta T, Niikawa N, Yoshiura K. Komatsu K, et al. J Hum Genet. 2002;47(8):395-9. doi: 10.1007/s100380200057. J Hum Genet. 2002. PMID: 12181639

5

Intestinal Mucosa-Associated Lymphoid Tissue Lymphoma Transforming into Diffuse Large B-Cell Lymphoma in a Young Adult Patient with Neurofibromatosis Type 1: A Case Report.

Kosako H, Yamashita Y, Tanaka K, Mishima H, Iwamoto R, Kinoshita A, Murata SI, Ohshima K, Yoshiura KI, Sonoki T, Tamura S. Kosako H, et al. Among authors: yoshiura ki. Medicina (Kaunas). 2022 Dec 12;58(12):1830. doi: 10.3390/medicina58121830. Medicina (Kaunas). 2022. PMID: 36557032 Free PMC article.

6

EEC-LM-ADULT syndrome caused by R319H mutation in TP63 with ectrodactyly, syndactyly, and teeth anomaly: A case report.

Otsuki Y, Ueda K, Nuri T, Satoh C, Maekawa R, Yoshiura KI. Otsuki Y, et al. Among authors: yoshiura ki. Medicine (Baltimore). 2020 Oct 30;99(44):e22816. doi: 10.1097/MD.0000000000022816. Medicine (Baltimore). 2020. PMID: 33126320 Free PMC article.

7

Rapid growth of mitotically active cellular fibroma of the ovary: a case report and review of the literature.

Matsuda K, Tateishi S, Akazawa Y, Kinoshita A, Yoshida S, Morisaki S, Fukushima A, Matsuwaki T, Yoshiura KI, Nakashima M. Matsuda K, et al. Among authors: yoshiura ki. Diagn Pathol. 2016 Oct 22;11(1):101. doi: 10.1186/s13000-016-0554-7. Diagn Pathol. 2016. PMID: 27770806 Free PMC article. Review.

8

Genetic variants in oxytocin receptor and arginine-vasopressin receptor 1A are associated with the neural correlates of maternal and paternal affection towards their child.

Nishitani S, Ikematsu K, Takamura T, Honda S, Yoshiura KI, Shinohara K. Nishitani S, et al. Among authors: yoshiura ki. Horm Behav. 2017 Jan;87:47-56. doi: 10.1016/j.yhbeh.2016.09.010. Epub 2016 Oct 13. Horm Behav. 2017. PMID: 27743766

9

A catalog of 106 single-nucleotide polymorphisms (SNPs) and 11 other types of variations in genes for transforming growth factor-beta1 (TGF-beta1) and its signaling pathway.

Watanabe Y, Kinoshita A, Yamada T, Ohta T, Kishino T, Matsumoto N, Ishikawa M, Niikawa N, Yoshiura K. Watanabe Y, et al. J Hum Genet. 2002;47(9):478-83. doi: 10.1007/s100380200069. J Hum Genet. 2002. PMID: 12202987

10

TGFB1 mutations in four new families with Camurati-Engelmann disease: confirmation of independently arising LAP-domain-specific mutations.

Kinoshita A, Fukumaki Y, Shirahama S, Miyahara A, Nishimura G, Haga N, Namba A, Ueda H, Hayashi H, Ikegawa S, Seidel J, Niikawa N, Yoshiura KI. Kinoshita A, et al. Among authors: yoshiura ki. Am J Med Genet A. 2004 May 15;127A(1):104-107. doi: 10.1002/ajmg.a.20671. Am J Med Genet A. 2004. PMID: 15103729 No abstract available.

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