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Page 1
Criteria for radiologic diagnosis of hypochondroplasia in neonates.
Saito T, Nagasaki K, Nishimura G, Wada M, Nyuzuki H, Takagi M, Hasegawa T, Amano N, Murotsuki J, Sawai H, Yamada T, Sato S, Saitoh A. Saito T, et al. Among authors: nishimura g. Pediatr Radiol. 2016 Apr;46(4):513-8. doi: 10.1007/s00247-015-3518-2. Epub 2016 Feb 11. Pediatr Radiol. 2016. PMID: 26867606
Stippled calcification in an infant with a recurrent SRCAP gene mutation.
Yagi H, Takagi M, Narumi S, Hasegawa T, Nishimura G, Hasegawa Y. Yagi H, et al. Among authors: nishimura g. Am J Med Genet A. 2016 Apr;170A(4):1088-91. doi: 10.1002/ajmg.a.37516. Epub 2016 Jan 20. Am J Med Genet A. 2016. PMID: 26788936 No abstract available.
A Japanese familial case of hypochondroplasia with a novel mutation in FGFR3.
Nagahara K, Harada Y, Futami T, Takagi M, Nishimura G, Hasegawa Y. Nagahara K, et al. Among authors: nishimura g. Clin Pediatr Endocrinol. 2016 Jul;25(3):103-6. doi: 10.1297/cpe.25.103. Epub 2016 Jul 20. Clin Pediatr Endocrinol. 2016. PMID: 27507911 Free PMC article. No abstract available.
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: nishimura g. 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.
719 results