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

200 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Results By Year timeline is not available.
Page 1
A new Ehlers-Danlos syndrome with craniofacial characteristics, multiple congenital contractures, progressive joint and skin laxity, and multisystem fragility-related manifestations.
Kosho T, Miyake N, Hatamochi A, Takahashi J, Kato H, Miyahara T, Igawa Y, Yasui H, Ishida T, Ono K, Kosuda T, Inoue A, Kohyama M, Hattori T, Ohashi H, Nishimura G, Kawamura R, Wakui K, Fukushima Y, Matsumoto N. Kosho T, et al. Am J Med Genet A. 2010 Jun;152A(6):1333-46. doi: 10.1002/ajmg.a.33498. Am J Med Genet A. 2010. PMID: 20503305
Loss-of-function mutations of CHST14 in a new type of Ehlers-Danlos syndrome.
Miyake N, Kosho T, Mizumoto S, Furuichi T, Hatamochi A, Nagashima Y, Arai E, Takahashi K, Kawamura R, Wakui K, Takahashi J, Kato H, Yasui H, Ishida T, Ohashi H, Nishimura G, Shiina M, Saitsu H, Tsurusaki Y, Doi H, Fukushima Y, Ikegawa S, Yamada S, Sugahara K, Matsumoto N. Miyake N, et al. Among authors: kosho t. Hum Mutat. 2010 Aug;31(8):966-74. doi: 10.1002/humu.21300. Hum Mutat. 2010. PMID: 20533528
Delineation of dermatan 4-O-sulfotransferase 1 deficient Ehlers-Danlos syndrome: observation of two additional patients and comprehensive review of 20 reported patients.
Shimizu K, Okamoto N, Miyake N, Taira K, Sato Y, Matsuda K, Akimaru N, Ohashi H, Wakui K, Fukushima Y, Matsumoto N, Kosho T. Shimizu K, et al. Among authors: kosho t. Am J Med Genet A. 2011 Aug;155A(8):1949-58. doi: 10.1002/ajmg.a.34115. Epub 2011 Jul 8. Am J Med Genet A. 2011. PMID: 21744491 Review.
A response to: loss of dermatan-4-sulfotransferase 1 (D4ST1/CHST14) function represents the first dermatan sulfate biosynthesis defect, "dermatan sulfate-deficient Adducted Thumb-Clubfoot Syndrome". Which name is appropriate, "Adducted Thumb-Clubfoot Syndrome" or "Ehlers-Danlos syndrome"?
Kosho T, Miyake N, Mizumoto S, Hatamochi A, Fukushima Y, Yamada S, Sugahara K, Matsumoto N. Kosho T, et al. Hum Mutat. 2011 Dec;32(12):1507-9. doi: 10.1002/humu.21586. Epub 2011 Sep 30. Hum Mutat. 2011. PMID: 21964831 No abstract available.
Vascular abnormalities in the placenta of Chst14-/- fetuses: implications in the pathophysiology of perinatal lethality of the murine model and vascular lesions in human CHST14/D4ST1 deficiency.
Yoshizawa T, Mizumoto S, Takahashi Y, Shimada S, Sugahara K, Nakayama J, Takeda S, Nomura Y, Nitahara-Kasahara Y, Okada T, Matsumoto K, Yamada S, Kosho T. Yoshizawa T, et al. Among authors: kosho t. Glycobiology. 2018 Feb 1;28(2):80-89. doi: 10.1093/glycob/cwx099. Glycobiology. 2018. PMID: 29206923 Free PMC article.
200 results