Takeyari S - Search Results

1

Japanese patient with Cole-carpenter syndrome with compound heterozygous variants of SEC24D.

Takeyari S, Kubota T, Miyata K, Yamamoto K, Nakayama H, Yamamoto K, Ohata Y, Kitaoka T, Yanagi K, Kaname T, Ozono K. Takeyari S, et al. Am J Med Genet A. 2018 Dec;176(12):2882-2886. doi: 10.1002/ajmg.a.40643. Epub 2018 Nov 21. Am J Med Genet A. 2018. PMID: 30462379

2

Serum fibroblast growth factor 23 is a useful marker to distinguish vitamin D-deficient rickets from hypophosphatemic rickets.

Kubota T, Kitaoka T, Miura K, Fujiwara M, Ohata Y, Miyoshi Y, Yamamoto K, Takeyari S, Yamamoto T, Namba N, Ozono K. Kubota T, et al. Among authors: takeyari s. Horm Res Paediatr. 2014;81(4):251-7. doi: 10.1159/000357142. Epub 2014 Feb 26. Horm Res Paediatr. 2014. PMID: 24577200

3

Hypophosphatemic osteomalacia and bone sclerosis caused by a novel homozygous mutation of the FAM20C gene in an elderly man with a mild variant of Raine syndrome.

Takeyari S, Yamamoto T, Kinoshita Y, Fukumoto S, Glorieux FH, Michigami T, Hasegawa K, Kitaoka T, Kubota T, Imanishi Y, Shimotsuji T, Ozono K. Takeyari S, et al. Bone. 2014 Oct;67:56-62. doi: 10.1016/j.bone.2014.06.026. Epub 2014 Jun 27. Bone. 2014. PMID: 24982027

4

Mycobacterium haemophilum osteomyelitis in the immunocompromised host.

Takeyari S, Hashii Y, Yoshida H, Kogaki S, Ozono K. Takeyari S, et al. Pediatr Int. 2017 Dec;59(12):1279-1281. doi: 10.1111/ped.13426. Epub 2017 Dec 4. Pediatr Int. 2017. PMID: 29205702 No abstract available.

5

Pyridoxal 5'-phosphate and related metabolites in hypophosphatasia: Effects of enzyme replacement therapy.

Akiyama T, Kubota T, Ozono K, Michigami T, Kobayashi D, Takeyari S, Sugiyama Y, Noda M, Harada D, Namba N, Suzuki A, Utoyama M, Kitanaka S, Uematsu M, Mitani Y, Matsunami K, Takishima S, Ogawa E, Kobayashi K. Akiyama T, et al. Among authors: takeyari s. Mol Genet Metab. 2018 Sep;125(1-2):174-180. doi: 10.1016/j.ymgme.2018.07.006. Epub 2018 Jul 17. Mol Genet Metab. 2018. PMID: 30049651

6

Functional analysis of monocarboxylate transporter 8 mutations in Japanese Allan-Herndon-Dudley syndrome patients.

Islam MS, Namba N, Ohata Y, Fujiwara M, Nakano C, Takeyari S, Miyata K, Nakano Y, Yamamoto K, Nakayama H, Kitaoka T, Kubota T, Ozono K. Islam MS, et al. Among authors: takeyari s. Endocr J. 2019 Jan 28;66(1):19-29. doi: 10.1507/endocrj.EJ18-0251. Epub 2018 Oct 25. Endocr J. 2019. PMID: 30369548 Free article.

7

Metreleptin treatment for congenital generalized lipodystrophy type 4 (CGL4): a case report.

Takeyari S, Takakuwa S, Miyata K, Yamamoto K, Nakayama H, Ohata Y, Fujiwara M, Kitaoka T, Kubota T, Namba N, Sakai N, Ozono K. Takeyari S, et al. Clin Pediatr Endocrinol. 2019;28(1):1-7. doi: 10.1297/cpe.28.1. Epub 2019 Jan 31. Clin Pediatr Endocrinol. 2019. PMID: 30745727 Free PMC article.

8

Genetic correction of induced pluripotent stem cells mediated by transcription activator-like effector nucleases targeting ALPL recovers enzyme activity and calcification in vitro.

Nakano C, Kitabatake Y, Takeyari S, Ohata Y, Kubota T, Taketani K, Kogo M, Ozono K. Nakano C, et al. Among authors: takeyari s. Mol Genet Metab. 2019 Jun;127(2):158-165. doi: 10.1016/j.ymgme.2019.05.014. Epub 2019 May 28. Mol Genet Metab. 2019. PMID: 31178256

9

Comprehensive genetic analyses using targeted next-generation sequencing and genotype-phenotype correlations in 53 Japanese patients with osteogenesis imperfecta.

Ohata Y, Takeyari S, Nakano Y, Kitaoka T, Nakayama H, Bizaoui V, Yamamoto K, Miyata K, Yamamoto K, Fujiwara M, Kubota T, Michigami T, Yamamoto K, Yamamoto T, Namba N, Ebina K, Yoshikawa H, Ozono K. Ohata Y, et al. Among authors: takeyari s. Osteoporos Int. 2019 Nov;30(11):2333-2342. doi: 10.1007/s00198-019-05076-6. Epub 2019 Jul 29. Osteoporos Int. 2019. PMID: 31363794 Free PMC article.

10

Parental somatogonadal COL2A1 mosaicism contributes to intrafamilial recurrence in a family with type 2 collagenopathy.

Yamamoto K, Kubota T, Takeyari S, Kitaoka T, Miyata K, Nakano Y, Nakayama H, Ohata Y, Yanagi K, Kaname T, Okada Y, Ozono K. Yamamoto K, et al. Among authors: takeyari s. Am J Med Genet A. 2020 Mar;182(3):454-460. doi: 10.1002/ajmg.a.61422. Epub 2019 Dec 19. Am J Med Genet A. 2020. PMID: 31854518

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