Kosaki K - Search Results

1

Learning disability and myoclonic epilepsy associated with apparently synonymous but splice-disrupting JMJD1C variant that led to 21 bp deletion of the transcript.

Yamada M, Sokoda T, Uehara T, Suzuki H, Takenouchi T, Yagihashi T, Maruo Y, Kosaki K. Yamada M, et al. Among authors: kosaki k. Am J Med Genet A. 2020 Dec;182(12):3064-3067. doi: 10.1002/ajmg.a.61892. Epub 2020 Sep 30. Am J Med Genet A. 2020. PMID: 32996679 No abstract available.

2

Neocentromere marker chromosome of distal 3q mimicking dup(3q) syndrome phenotype.

Izumi K, Yamashita Y, Aramaki M, Kosaki R, Hosokai N, Takahashi T, Kosaki K. Izumi K, et al. Among authors: kosaki r, kosaki k. Am J Med Genet A. 2008 Aug 1;146A(15):1967-71. doi: 10.1002/ajmg.a.32120. Am J Med Genet A. 2008. PMID: 18561337

3

Split hand foot malformation with whorl-like pigmentary pattern: phenotypic expression of somatic mosaicism for the p63 mutation.

Kosaki R, Naito Y, Torii C, Takahashi T, Nakajima T, Kosaki K. Kosaki R, et al. Among authors: kosaki k. Am J Med Genet A. 2008 Oct 1;146A(19):2574-7. doi: 10.1002/ajmg.a.32415. Am J Med Genet A. 2008. PMID: 18792980 No abstract available.

4

Case report: Adult phenotype of Mulvihill-Smith syndrome.

Yagihashi T, Kato M, Izumi K, Kosaki R, Yago K, Tsubota K, Sato Y, Okubo M, Watanabe G, Takahashi T, Kosaki K. Yagihashi T, et al. Among authors: kosaki r, kosaki k. Am J Med Genet A. 2009 Mar;149A(3):496-500. doi: 10.1002/ajmg.a.32551. Am J Med Genet A. 2009. PMID: 19213035

5

Two distinctive classic genetic syndromes, 22q11.2 deletion syndrome and Angelman syndrome, occurring within the same family.

Kosaki R, Migita O, Takahashi T, Kosaki K. Kosaki R, et al. Among authors: kosaki k. Am J Med Genet A. 2009 Feb 15;149A(4):702-5. doi: 10.1002/ajmg.a.32666. Am J Med Genet A. 2009. PMID: 19288551

6

Effects of the CYP2D6*10 alleles and co-medication with CYP2D6-dependent drugs on risperidone metabolism in patients with schizophrenia.

Yagihashi T, Mizuno M, Chino B, Sato Y, Sakuma K, Takebayashi T, Takao T, Kosaki K. Yagihashi T, et al. Among authors: kosaki k. Hum Psychopharmacol. 2009 Jun;24(4):301-8. doi: 10.1002/hup.1025. Hum Psychopharmacol. 2009. PMID: 19387994

7

Association between patient age at the time of surgical treatment for endometriosis and aryl hydrocarbon receptor repressor polymorphism.

Asada H, Yagihashi T, Furuya M, Kosaki K, Takahashi T, Yoshimura Y. Asada H, et al. Among authors: kosaki k. Fertil Steril. 2009 Oct;92(4):1240-1242. doi: 10.1016/j.fertnstert.2009.04.041. Epub 2009 Jun 6. Fertil Steril. 2009. PMID: 19501819 Free article.

8

Diagnosis of Russell-Silver syndrome by the combined bisulfite restriction analysis-denaturing high-performance liquid chromatography assay.

Hattori M, Torii C, Yagihashi T, Izumi K, Suda N, Ohyama K, Takahashi T, Moriyama K, Kosaki K. Hattori M, et al. Among authors: kosaki k. Genet Test Mol Biomarkers. 2009 Oct;13(5):623-30. doi: 10.1089/gtmb.2009.0018. Genet Test Mol Biomarkers. 2009. PMID: 19814617

9

Influence of CYP3A5 and ABCB1 gene polymorphisms on calcineurin inhibitor-related neurotoxicity after hematopoietic stem cell transplantation.

Yanagimachi M, Naruto T, Tanoshima R, Kato H, Yokosuka T, Kajiwara R, Fujii H, Tanaka F, Goto H, Yagihashi T, Kosaki K, Yokota S. Yanagimachi M, et al. Among authors: kosaki k. Clin Transplant. 2010 Nov-Dec;24(6):855-61. doi: 10.1111/j.1399-0012.2009.01181.x. Clin Transplant. 2010. PMID: 20030680

10

Mechanisms underlying early development of pulmonary vascular obstructive disease in Down syndrome: An imbalance in biosynthesis of thromboxane A2 and prostacyclin.

Fukushima H, Kosaki K, Sato R, Yagihashi T, Gatayama R, Kodo K, Hayashi T, Nakazawa M, Tsuchihashi T, Maeda J, Kojima Y, Yamagishi H, Takahashi T. Fukushima H, et al. Among authors: kosaki k. Am J Med Genet A. 2010 Aug;152A(8):1919-24. doi: 10.1002/ajmg.a.33555. Am J Med Genet A. 2010. PMID: 20583254

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