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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: nishimura g. 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
Achondroplasia and enchondromatosis: report of three boys.
Numakura C, Kobayashi H, Hasegawa Y, Adachi M, Kim OH, Nishimura G. Numakura C, et al. Among authors: nishimura g. Skeletal Radiol. 2007 Jun;36 Suppl 1:S29-33. doi: 10.1007/s00256-006-0161-x. Epub 2006 Jun 9. Skeletal Radiol. 2007. PMID: 16763840
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.
Various types of LRP5 mutations in four patients with osteoporosis-pseudoglioma syndrome: identification of a 7.2-kb microdeletion using oligonucleotide tiling microarray.
Narumi S, Numakura C, Shiihara T, Seiwa C, Nozaki Y, Yamagata T, Momoi MY, Watanabe Y, Yoshino M, Matsuishi T, Nishi E, Kawame H, Akahane T, Nishimura G, Emi M, Hasegawa T. Narumi S, et al. Among authors: nishimura g. Am J Med Genet A. 2010 Jan;152A(1):133-40. doi: 10.1002/ajmg.a.33177. Am J Med Genet A. 2010. PMID: 20034086
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.
719 results