Orimo H - Search Results

1

Mutational analysis and functional correlation with phenotype in German patients with childhood-type hypophosphatasia.

Orimo H, Girschick HJ, Goseki-Sone M, Ito M, Oda K, Shimada T. Orimo H, et al. J Bone Miner Res. 2001 Dec;16(12):2313-9. doi: 10.1359/jbmr.2001.16.12.2313. J Bone Miner Res. 2001. PMID: 11760847 Free article.

2

G317D mutation in the tissue-nonspecific alkaline phosphatase gene associated with childhood hypophosphatasia in a German family.

Orimo H, Shin YS, Shimada T. Orimo H, et al. J Inherit Metab Dis. 2002 Nov;25(7):601-2. doi: 10.1023/a:1022055710295. J Inherit Metab Dis. 2002. PMID: 12638946 No abstract available.

3

Detection of deletion 1154-1156 hypophosphatasia mutation using TNSALP exon amplification.

Orimo H, Goseki-Sone M, Sato S, Shimada T. Orimo H, et al. Genomics. 1997 Jun 1;42(2):364-6. doi: 10.1006/geno.1997.4733. Genomics. 1997. PMID: 9192863 No abstract available.

4

Expression of the mutant (1735T-DEL) tissue-nonspecific alkaline phosphatase gene from hypophosphatasia patients.

Goseki-Sone M, Orimo H, Iimura T, Miyazaki H, Oda K, Shibata H, Yanagishita M, Takagi Y, Watanabe H, Shimada T, Oida S. Goseki-Sone M, et al. Among authors: orimo h. J Bone Miner Res. 1998 Dec;13(12):1827-34. doi: 10.1359/jbmr.1998.13.12.1827. J Bone Miner Res. 1998. PMID: 9844100 Free article.

5

Functional analysis of the single nucleotide polymorphism (787T>C) in the tissue-nonspecific alkaline phosphatase gene associated with BMD.

Goseki-Sone M, Sogabe N, Fukushi-Irie M, Mizoi L, Orimo H, Suzuki T, Nakamura H, Orimo H, Hosoi T. Goseki-Sone M, et al. Among authors: orimo h. J Bone Miner Res. 2005 May;20(5):773-82. doi: 10.1359/JBMR.041229. Epub 2004 Dec 20. J Bone Miner Res. 2005. PMID: 15824850 Free article.

6

A functional single nucleotide polymorphism in the vitamin-K-dependent gamma-glutamyl carboxylase gene (Arg325Gln) is associated with bone mineral density in elderly Japanese women.

Kinoshita H, Nakagawa K, Narusawa K, Goseki-Sone M, Fukushi-Irie M, Mizoi L, Yoshida H, Okano T, Nakamura T, Suzuki T, Inoue S, Orimo H, Ouchi Y, Hosoi T. Kinoshita H, et al. Among authors: orimo h. Bone. 2007 Feb;40(2):451-6. doi: 10.1016/j.bone.2006.08.007. Epub 2006 Oct 6. Bone. 2007. PMID: 17029979

7

Expression of bone morphogenetic proteins and rat distal-less homolog genes following rat femoral fracture.

Yaoita H, Orimo H, Shirai Y, Shimada T. Yaoita H, et al. Among authors: orimo h. J Bone Miner Metab. 2000;18(2):63-70. doi: 10.1007/s007740050013. J Bone Miner Metab. 2000. PMID: 10701160

8

Identification of a novel frameshift mutation (383insT) in the RUNX2 (PEBP2 alpha/CBFA1/AML3) gene in a Japanese patient with cleidocranial dysplasia.

Goseki-Sone M, Orimo H, Watanabe A, Hamatani R, Yokozeki M, Ohyama K, Kuroda T, Watanabe H, Miyazaki H, Shimada T, Oida S. Goseki-Sone M, et al. Among authors: orimo h. J Bone Miner Metab. 2001;19(4):263-6. doi: 10.1007/s007740170030. J Bone Miner Metab. 2001. PMID: 11448020

9

A novel point mutation (C571T) in the tissue-non-specific alkaline phosphatase gene in a case of adult-type hypophosphatasia.

Watanabe H, Hashimoto-Uoshima M, Goseki-Sone M, Orimo H, Ishikawa I. Watanabe H, et al. Among authors: orimo h. Oral Dis. 2001 Nov;7(6):331-5. doi: 10.1034/j.1601-0825.2001.00740.x. Oral Dis. 2001. PMID: 11834095

10

Novel missense and frameshift mutations in the tissue-nonspecific alkaline phosphatase gene in a Japanese patient with hypophosphatasia.

Orimo H, Hayashi Z, Watanabe A, Hirayama T, Hirayama T, Shimada T. Orimo H, et al. Hum Mol Genet. 1994 Sep;3(9):1683-4. doi: 10.1093/hmg/3.9.1683. Hum Mol Genet. 1994. PMID: 7833929 No abstract available.

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