Mochizuki H - Search Results

1

Safety and efficacy of treatment with asfotase alfa in patients with hypophosphatasia: Results from a Japanese clinical trial.

Kitaoka T, Tajima T, Nagasaki K, Kikuchi T, Yamamoto K, Michigami T, Okada S, Fujiwara I, Kokaji M, Mochizuki H, Ogata T, Tatebayashi K, Watanabe A, Yatsuga S, Kubota T, Ozono K. Kitaoka T, et al. Among authors: mochizuki h. Clin Endocrinol (Oxf). 2017 Jul;87(1):10-19. doi: 10.1111/cen.13343. Epub 2017 May 2. Clin Endocrinol (Oxf). 2017. PMID: 28374482 Clinical Trial.

2

Identification of novel RMRP mutations and specific founder haplotypes in Japanese patients with cartilage-hair hypoplasia.

Hirose Y, Nakashima E, Ohashi H, Mochizuki H, Bando Y, Ogata T, Adachi M, Toba E, Nishimura G, Ikegawa S. Hirose Y, et al. Among authors: mochizuki h. J Hum Genet. 2006;51(8):706-710. doi: 10.1007/s10038-006-0015-3. Epub 2006 Jul 11. J Hum Genet. 2006. PMID: 16832578

3

Molecular analysis of the CLCNKB gene in Japanese patients with classic Bartter syndrome.

Tajima T, Nawate M, Takahashi Y, Mizoguchi Y, Sugihara S, Yoshimoto M, Murakami M, Adachi M, Tachibana K, Mochizuki H, Fujieda K. Tajima T, et al. Among authors: mochizuki h. Endocr J. 2006 Oct;53(5):647-52. doi: 10.1507/endocrj.k06-034. Epub 2006 Aug 11. Endocr J. 2006. PMID: 16902263 Free article.

4

Four Japanese patients with adrenal hypoplasia congenita and hypogonadotropic hypogonadism caused by DAX-1 gene mutations: mutant DAX-1 failed to repress steroidogenic acute regulatory protein (StAR) and luteinizing hormone beta-subunit gene promoter activity.

Okuhara K, Abe S, Kondo T, Fujita K, Koda N, Mochizuki H, Fujieda K, Tajima T. Okuhara K, et al. Among authors: mochizuki h. Endocr J. 2008 Mar;55(1):97-103. doi: 10.1507/endocrj.k07e-008. Epub 2008 Jan 17. Endocr J. 2008. PMID: 18202527 Free article.

5

Identification and characterization of cryptic SHOX intragenic deletions in three Japanese patients with Léri-Weill dyschondrosteosis.

Fukami M, Dateki S, Kato F, Hasegawa Y, Mochizuki H, Horikawa R, Ogata T. Fukami M, et al. Among authors: mochizuki h. J Hum Genet. 2008;53(5):454-459. doi: 10.1007/s10038-008-0269-z. Epub 2008 Mar 6. J Hum Genet. 2008. PMID: 18322641

6

Anorectal and urinary anomalies and aberrant retinoic acid metabolism in cytochrome P450 oxidoreductase deficiency.

Fukami M, Nagai T, Mochizuki H, Muroya K, Yamada G, Takitani K, Ogata T. Fukami M, et al. Among authors: mochizuki h. Mol Genet Metab. 2010 Jul;100(3):269-73. doi: 10.1016/j.ymgme.2010.03.023. Epub 2010 Apr 3. Mol Genet Metab. 2010. PMID: 20409737

7

Loss-of-function and gain-of-function mutations of calcium-sensing receptor: functional analysis and the effect of allosteric modulators NPS R-568 and NPS 2143.

Nakamura A, Hotsubo T, Kobayashi K, Mochizuki H, Ishizu K, Tajima T. Nakamura A, et al. Among authors: mochizuki h. J Clin Endocrinol Metab. 2013 Oct;98(10):E1692-701. doi: 10.1210/jc.2013-1974. Epub 2013 Aug 21. J Clin Endocrinol Metab. 2013. PMID: 23966241 Free article.

8

Three novel mutations of the MCT8 (SLC16A2) gene: individual and temporal variations of endocrinological and radiological features.

Ono E, Ariga M, Oshima S, Hayakawa M, Imai M, Ochiai Y, Mochizuki H, Namba N, Ozono K, Miyata I. Ono E, et al. Among authors: mochizuki h. Clin Pediatr Endocrinol. 2016 Apr;25(2):23-35. doi: 10.1297/cpe.25.23. Epub 2016 Apr 28. Clin Pediatr Endocrinol. 2016. PMID: 27212794 Free PMC article.

9

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: mochizuki 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.

10

Clinical Practice Guidelines for Achondroplasia.

Kubota T, Adachi M, Kitaoka T, Hasegawa K, Ohata Y, Fujiwara M, Michigami T, Mochizuki H, Ozono K. Kubota T, et al. Among authors: mochizuki h. Clin Pediatr Endocrinol. 2020;29(1):25-42. doi: 10.1297/cpe.29.25. Epub 2020 Jan 9. Clin Pediatr Endocrinol. 2020. PMID: 32029970 Free PMC article.

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