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Page 1
Clinical Practice Guidelines for Hypophosphatasia.
Michigami T, Ohata Y, Fujiwara M, Mochizuki H, Adachi M, Kitaoka T, Kubota T, Sawai H, Namba N, Hasegawa K, Fujiwara I, Ozono K. Michigami T, et al. Among authors: sawai h. Clin Pediatr Endocrinol. 2020;29(1):9-24. doi: 10.1297/cpe.29.9. Epub 2020 Jan 9. Clin Pediatr Endocrinol. 2020. PMID: 32029969 Free PMC article.
A novel mutation Ser344Cys in FGFR3 causes achondroplasia with severe platyspondyly.
Takagi M, Kouwaki M, Kawase K, Shinohara H, Hasegawa Y, Yamada T, Fujiwara I, Sawai H, Nishimura G, Hasegawa T. Takagi M, et al. Among authors: sawai h. Am J Med Genet A. 2015 Nov;167A(11):2851-4. doi: 10.1002/ajmg.a.37231. Epub 2015 Jun 30. Am J Med Genet A. 2015. PMID: 26126848 No abstract available.
Ceramide and adenosine 5'-monophosphate-activated protein kinase are two novel regulators of 11beta-hydroxysteroid dehydrogenase type 1 expression and activity in cultured preadipocytes.
Arai N, Masuzaki H, Tanaka T, Ishii T, Yasue S, Kobayashi N, Tomita T, Noguchi M, Kusakabe T, Fujikura J, Ebihara K, Hirata M, Hosoda K, Hayashi T, Sawai H, Minokoshi Y, Nakao K. Arai N, et al. Among authors: sawai h. Endocrinology. 2007 Nov;148(11):5268-77. doi: 10.1210/en.2007-0349. Epub 2007 Aug 16. Endocrinology. 2007. PMID: 17702848
Mutation analysis of SOX9 and single copy number variant analysis of the upstream region in eight patients with campomelic dysplasia and acampomelic campomelic dysplasia.
Wada Y, Nishimura G, Nagai T, Sawai H, Yoshikata M, Miyagawa S, Hanita T, Sato S, Hasegawa T, Ishikawa S, Ogata T. Wada Y, et al. Among authors: sawai h. Am J Med Genet A. 2009 Dec;149A(12):2882-5. doi: 10.1002/ajmg.a.33107. Am J Med Genet A. 2009. PMID: 19921652 No abstract available.
505 results