Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My NCBI Filters

Text availability

Article attribute

Article type

Publication date

Search Results

4,371 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Results By Year timeline is not available.
Page 1
DNA Methylation Status of SHOX-Flanking CpG Islands in Healthy Individuals and Short Stature Patients with Pseudoautosomal Copy Number Variations.
Ogushi K, Hattori A, Suzuki E, Shima H, Izawa M, Yagasaki H, Horikawa R, Uetake K, Umezawa A, Ishii T, Muroya K, Namba N, Tanaka T, Hirano Y, Yamamoto H, Soneda S, Matsubara K, Kagami M, Miyado M, Fukami M. Ogushi K, et al. Among authors: ishii t. Cytogenet Genome Res. 2019;158(2):56-62. doi: 10.1159/000500468. Epub 2019 Jun 4. Cytogenet Genome Res. 2019. PMID: 31158835 Free article.
Systematic molecular analyses of SHOX in Japanese patients with idiopathic short stature and Leri-Weill dyschondrosteosis.
Shima H, Tanaka T, Kamimaki T, Dateki S, Muroya K, Horikawa R, Kanno J, Adachi M, Naiki Y, Tanaka H, Mabe H, Yagasaki H, Kure S, Matsubara Y, Tajima T, Kashimada K, Ishii T, Asakura Y, Fujiwara I, Soneda S, Nagasaki K, Hamajima T, Kanzaki S, Jinno T, Ogata T, Fukami M; Japanese SHOX study group. Shima H, et al. Among authors: ishii t. J Hum Genet. 2016 Jul;61(7):585-91. doi: 10.1038/jhg.2016.18. Epub 2016 Mar 17. J Hum Genet. 2016. PMID: 26984564
Additional report on Moreno-Nishimura-Schmidt overgrowth syndrome.
Handa A, Muroya K, Ishii T, Nishimura G. Handa A, et al. Among authors: ishii t. Am J Med Genet A. 2017 Oct;173(10):2834-2837. doi: 10.1002/ajmg.a.38368. Epub 2017 Jul 25. Am J Med Genet A. 2017. PMID: 28742279 No abstract available.
Heterozygous defects in PAX6 gene and congenital hypopituitarism.
Takagi M, Nagasaki K, Fujiwara I, Ishii T, Amano N, Asakura Y, Muroya K, Hasegawa Y, Adachi M, Hasegawa T. Takagi M, et al. Among authors: ishii t. Eur J Endocrinol. 2015 Jan;172(1):37-45. doi: 10.1530/EJE-14-0255. Epub 2014 Oct 23. Eur J Endocrinol. 2015. PMID: 25342853
MIRAGE syndrome is a rare cause of 46,XY DSD born SGA without adrenal insufficiency.
Shima H, Hayashi M, Tachibana T, Oshiro M, Amano N, Ishii T, Haruna H, Igarashi M, Kon M, Fukuzawa R, Tanaka Y, Fukami M, Hasegawa T, Narumi S. Shima H, et al. Among authors: ishii t. PLoS One. 2018 Nov 7;13(11):e0206184. doi: 10.1371/journal.pone.0206184. eCollection 2018. PLoS One. 2018. PMID: 30403727 Free PMC article.
Functional variants in a TTTG microsatellite on 15q26.1 cause familial nonautoimmune thyroid abnormalities.
Narumi S, Nagasaki K, Kiriya M, Uehara E, Akiba K, Tanase-Nakao K, Shimura K, Abe K, Sugisawa C, Ishii T, Miyako K, Hasegawa Y, Maruo Y, Muroya K, Watanabe N, Nishihara E, Ito Y, Kogai T, Kameyama K, Nakabayashi K, Hata K, Fukami M, Shima H, Kikuchi A, Takayama J, Tamiya G, Hasegawa T. Narumi S, et al. Among authors: ishii t. Nat Genet. 2024 May;56(5):869-876. doi: 10.1038/s41588-024-01735-5. Epub 2024 May 7. Nat Genet. 2024. PMID: 38714868 Free PMC article.
Cytochrome P450 oxidoreductase deficiency: identification and characterization of biallelic mutations and genotype-phenotype correlations in 35 Japanese patients.
Fukami M, Nishimura G, Homma K, Nagai T, Hanaki K, Uematsu A, Ishii T, Numakura C, Sawada H, Nakacho M, Kowase T, Motomura K, Haruna H, Nakamura M, Ohishi A, Adachi M, Tajima T, Hasegawa Y, Hasegawa T, Horikawa R, Fujieda K, Ogata T. Fukami M, et al. Among authors: ishii t. J Clin Endocrinol Metab. 2009 May;94(5):1723-31. doi: 10.1210/jc.2008-2816. Epub 2009 Mar 3. J Clin Endocrinol Metab. 2009. PMID: 19258400
4,371 results