Naiki Y - Search Results

1

Congenital anaemia associated with loss-of-function variants in DNA polymerase epsilon 1.

Takeuchi I, Tanase-Nakao K, Ogawa A, Sugawara T, Migita O, Kashima M, Yamazaki T, Iguchi A, Naiki Y, Uchiyama T, Tamaoki J, Maeda H, Shimizu H, Kawai T, Taniguchi K, Hirata H, Kobayashi M, Matsumoto K, Naruse K, Hata K, Akutsu H, Kato T, Narumi S, Arai K, Ishiguro A. Takeuchi I, et al. Among authors: naiki y. J Med Genet. 2024 Feb 21;61(3):239-243. doi: 10.1136/jmg-2023-109444. J Med Genet. 2024. PMID: 37833059 Free article.

2

Congenitally defective aldosterone biosynthesis in humans: the involvement of point mutations of the P-450C18 gene (CYP11B2) in CMO II deficient patients.

Mitsuuchi Y, Kawamoto T, Naiki Y, Miyahara K, Toda K, Kuribayashi I, Orii T, Yasuda K, Miura K, Nakao K, et al. Mitsuuchi Y, et al. Among authors: naiki y. Biochem Biophys Res Commun. 1992 Jan 31;182(2):974-9. doi: 10.1016/0006-291x(92)91827-d. Biochem Biophys Res Commun. 1992. PMID: 1346492

3

Tuberculous tenosynovitis in the elbow joint.

Asaka T, Takizawa Y, Kariya T, Nitta E, Yasuda T, Fujita M, Sawasaki S, Naiki Y, Nakatani N, Doushita T, Miura T, Ueda F, Takamori M, Matsushima A. Asaka T, et al. Among authors: naiki y. Intern Med. 1996 Feb;35(2):162-5. doi: 10.2169/internalmedicine.35.162. Intern Med. 1996. PMID: 8680108 Free article.

4

Characterization of two novel homozygous missense mutations involving codon 6 and 259 of type II 3beta-hydroxysteroid dehydrogenase (3betaHSD) gene causing, respectively, nonsalt-wasting and salt-wasting 3betaHSD deficiency disorder.

Zhang L, Mason JI, Naiki Y, Copeland KC, Castro-Magana M, Gordon-Walker TT, Chang YT, Pang S. Zhang L, et al. Among authors: naiki y. J Clin Endocrinol Metab. 2000 Apr;85(4):1678-85. doi: 10.1210/jcem.85.4.6539. J Clin Endocrinol Metab. 2000. PMID: 10770215

5

A nonsense mutation (TGG [Trp116]-->TAG [Stop]) in CYP11B1 causes steroid 11 beta-hydroxylase deficiency.

Naiki Y, Kawamoto T, Mitsuuchi Y, Miyahara K, Toda K, Orii T, Imura H, Shizuta Y. Naiki Y, et al. J Clin Endocrinol Metab. 1993 Dec;77(6):1677-82. doi: 10.1210/jcem.77.6.7903314. J Clin Endocrinol Metab. 1993. PMID: 7903314

6

Once-Weekly Somapacitan vs Daily GH in Children With GH Deficiency: Results From a Randomized Phase 2 Trial.

Sävendahl L, Battelino T, Brod M, Højby Rasmussen M, Horikawa R, Juul RV, Saenger P; REAL 3 study group. Sävendahl L, et al. J Clin Endocrinol Metab. 2020 Apr 1;105(4):e1847-61. doi: 10.1210/clinem/dgz310. J Clin Endocrinol Metab. 2020. PMID: 31917835 Free PMC article. Clinical Trial.

7

An outbreak of enteritis induced by methicillin-resistant Staphylococcus aureus producing enterotoxin types A and C, toxic shock syndrome toxin-1 and coagulase type II.

Kaneko A, Mori T, Fujino T, Nakamura A, Naiki Y, Mutoh M, Nagata A, Kirikae T. Kaneko A, et al. Among authors: naiki y. Jpn J Infect Dis. 2000 Oct;53(5):212-4. Jpn J Infect Dis. 2000. PMID: 11135710 No abstract available.

8

Adeno-Associated Virus-Mediated Gene Therapy for Patients' Fibroblasts, Induced Pluripotent Stem Cells, and a Mouse Model of Congenital Adrenal Hyperplasia.

Naiki Y, Miyado M, Shindo M, Horikawa R, Hasegawa Y, Katsumata N, Takada S, Akutsu H, Onodera M, Fukami M. Naiki Y, et al. Hum Gene Ther. 2022 Aug;33(15-16):801-809. doi: 10.1089/hum.2022.005. Hum Gene Ther. 2022. PMID: 35838129

9

A thyroid adenoma in a pubertal male with thyroxine-binding globulin deficiency.

Kim H, Naiki Y, Iwahashi-Odano M, Narumi S, Ito K, Ishiguro A. Kim H, et al. Among authors: naiki y. Clin Pediatr Endocrinol. 2024;33(1):23-26. doi: 10.1297/cpe.2023-0031. Epub 2023 Nov 12. Clin Pediatr Endocrinol. 2024. PMID: 38299172 Free PMC article.

10

Rare pseudoautosomal copy-number variations involving SHOX and/or its flanking regions in individuals with and without short stature.

Fukami M, Naiki Y, Muroya K, Hamajima T, Soneda S, Horikawa R, Jinno T, Katsumi M, Nakamura A, Asakura Y, Adachi M, Ogata T, Kanzaki S; Japanese SHOX study group. Fukami M, et al. Among authors: naiki y. J Hum Genet. 2015 Sep;60(9):553-6. doi: 10.1038/jhg.2015.53. Epub 2015 Jun 4. J Hum Genet. 2015. PMID: 26040210

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My NCBI Filters

Text availability

Article attribute

Article type

Publication date

138 results

Search Page