Kosho T - Search Results

1

A MinION-based Long-Read Sequencing Application With One-Step PCR for the Genetic Diagnosis of 21-Hydroxylase Deficiency.

Adachi E, Nakagawa R, Tsuji-Hosokawa A, Gau M, Kirino S, Yogi A, Nakatani H, Takasawa K, Yamaguchi T, Kosho T, Murakami M, Tajima T, Hasegawa T, Yamada T, Morio T, Ohara O, Kashimada K. Adachi E, et al. Among authors: kosho t. J Clin Endocrinol Metab. 2024 Feb 20;109(3):750-760. doi: 10.1210/clinem/dgad577. J Clin Endocrinol Metab. 2024. PMID: 37804107

2

Elevation of neuron specific enolase and brain iron deposition on susceptibility-weighted imaging as diagnostic clues for beta-propeller protein-associated neurodegeneration in early childhood: Additional case report and review of the literature.

Takano K, Shiba N, Wakui K, Yamaguchi T, Aida N, Inaba Y, Fukushima Y, Kosho T. Takano K, et al. Among authors: kosho t. Am J Med Genet A. 2016 Feb;170A(2):322-328. doi: 10.1002/ajmg.a.37432. Epub 2015 Oct 20. Am J Med Genet A. 2016. PMID: 26481852 Review.

3

Defect in dermatan sulfate in urine of patients with Ehlers-Danlos syndrome caused by a CHST14/D4ST1 deficiency.

Mizumoto S, Kosho T, Hatamochi A, Honda T, Yamaguchi T, Okamoto N, Miyake N, Yamada S, Sugahara K. Mizumoto S, et al. Among authors: kosho t. Clin Biochem. 2017 Aug;50(12):670-677. doi: 10.1016/j.clinbiochem.2017.02.018. Epub 2017 Feb 24. Clin Biochem. 2017. PMID: 28238810 Free article.

4

Efficacy and Safety of Denosumab Therapy for Osteogenesis Imperfecta Patients with Osteoporosis-Case Series.

Kobayashi T, Nakamura Y, Suzuki T, Yamaguchi T, Takeda R, Takagi M, Hasegawa T, Kosho T, Kato H. Kobayashi T, et al. Among authors: kosho t. J Clin Med. 2018 Nov 24;7(12):479. doi: 10.3390/jcm7120479. J Clin Med. 2018. PMID: 30477250 Free PMC article.

5

A novel CACNA1A nonsense variant in a patient presenting with paroxysmal exertion-induced dyskinesia.

Ogawa Y, Nakamura K, Ezawa N, Yamaguchi T, Yoshinaga T, Miyazaki D, Kosho T, Sekijima Y. Ogawa Y, et al. Among authors: kosho t. J Neurol Sci. 2019 Apr 15;399:214-216. doi: 10.1016/j.jns.2019.02.040. Epub 2019 Mar 1. J Neurol Sci. 2019. PMID: 30852237 No abstract available.

6

Familial Aortic Dissection in a Young Adult Caused by MYH11 Gene Mutation.

Yamasaki M, Abe K, Kosho T, Yamaguchi T. Yamasaki M, et al. Among authors: kosho t. Ann Thorac Surg. 2019 Jul;108(1):e49. doi: 10.1016/j.athoracsur.2019.02.015. Epub 2019 Mar 15. Ann Thorac Surg. 2019. PMID: 30885847 No abstract available.

7

A case of septo-optic dysplasia with hereditary hemorrhagic telangiectasia: a previously unrecognized combination of malformations.

Kawano-Matsuda F, Shimada Y, Omotobara-Yabe T, Itonaga T, Maeda M, Maeda T, Yamaguchi T, Kosho T, Ihara K. Kawano-Matsuda F, et al. Among authors: kosho t. Clin Dysmorphol. 2020 Jan;29(1):49-52. doi: 10.1097/MCD.0000000000000278. Clin Dysmorphol. 2020. PMID: 30946035 No abstract available.

8

Genome sequencing and RNA sequencing of urinary cells reveal an intronic FBN1 variant causing aberrant splicing.

Hiraide T, Shimizu K, Miyamoto S, Aoto K, Nakashima M, Yamaguchi T, Kosho T, Ogata T, Saitsu H. Hiraide T, et al. Among authors: kosho t. J Hum Genet. 2022 Jul;67(7):387-392. doi: 10.1038/s10038-022-01016-1. Epub 2022 Jan 24. J Hum Genet. 2022. PMID: 35067677

9

Clinical and molecular features of patients with COL1-related disorders: Implications for the wider spectrum and the risk of vascular complications.

Takeda R, Yamaguchi T, Hayashi S, Sano S, Kawame H, Kanki S, Taketani T, Yoshimura H, Nakamura Y, Kosho T. Takeda R, et al. Among authors: kosho t. Am J Med Genet A. 2022 Sep;188(9):2560-2575. doi: 10.1002/ajmg.a.62887. Epub 2022 Jul 13. Am J Med Genet A. 2022. PMID: 35822426 Free PMC article.

10

Clinical and pathophysiological delineation of musculocontractural Ehlers-Danlos syndrome caused by dermatan sulfate epimerase deficiency (mcEDS-DSE): A detailed and comprehensive glycobiological and pathological investigation in a novel patient.

Minatogawa M, Hirose T, Mizumoto S, Yamaguchi T, Nagae C, Taki M, Yamada S, Watanabe T, Kosho T. Minatogawa M, et al. Among authors: kosho t. Hum Mutat. 2022 Dec;43(12):1829-1836. doi: 10.1002/humu.24437. Epub 2022 Jul 23. Hum Mutat. 2022. PMID: 35842784

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