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529 results
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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
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.
Pyridoxine-induced photosensitivity and hypophosphatasia.
Kawada A, Kashima A, Shiraishi H, Gomi H, Matsuo I, Yasuda K, Sasaki G, Sato S, Orimo H. Kawada A, et al. Among authors: orimo h. Dermatology. 2000;201(4):356-60. doi: 10.1159/000051555. Dermatology. 2000. PMID: 11146351
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
Polymorphism of insulin-like growth factor I gene and bone mineral density.
Miyao M, Hosoi T, Inoue S, Hoshino S, Shiraki M, Orimo H, Ouchi Y. Miyao M, et al. Among authors: orimo h. Calcif Tissue Int. 1998 Oct;63(4):306-11. doi: 10.1007/s002239900532. Calcif Tissue Int. 1998. PMID: 9744989
Molecular diagnosis of hypophosphatasia with severe periodontitis.
Watanabe H, Goseki-Sone M, Iimura T, Oida S, Orimo H, Ishikawa I. Watanabe H, et al. Among authors: orimo h. J Periodontol. 1999 Jun;70(6):688-91. doi: 10.1902/jop.1999.70.6.688. J Periodontol. 1999. PMID: 10397525
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
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.
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
Prenatal diagnosis of steroid 21-hydroxylase deficiency by analysis of polymerase chain reaction-single strand conformation polymorphism (PCR-SSCP) profiles.
Hayashi Z, Orimo H, Araki T, Shimada T. Hayashi Z, et al. Among authors: orimo h. Prenat Diagn. 1997 May;17(5):435-42. doi: 10.1002/(sici)1097-0223(199705)17:5<435::aid-pd100>;2-z. Prenat Diagn. 1997. PMID: 9178318
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