Orii T - Search Results

1

Mucopolysaccharidosis IVA: four new exonic mutations in patients with N-acetylgalactosamine-6-sulfate sulfatase deficiency.

Tomatsu S, Fukuda S, Yamagishi A, Cooper A, Wraith JF, Hori T, Kato Z, Yamada N, Isogai K, Sukegawa K, Kondo N, Suzuki Y, Shimozawa N, Orii T. Tomatsu S, et al. Among authors: orii t. Am J Hum Genet. 1996 May;58(5):950-62. Am J Hum Genet. 1996. PMID: 8651279 Free PMC article.

2

Non-existence of a tight association between a 444leucine to proline mutation and phenotypes of Gaucher disease: high frequency of a NciI polymorphism in the non-neuronopathic form.

Masuno M, Tomatsu S, Sukegawa K, Orii T. Masuno M, et al. Among authors: orii t. Hum Genet. 1990 Jan;84(2):203-6. doi: 10.1007/BF00208943. Hum Genet. 1990. PMID: 1967589

3

[Molecular basis of mucopolysaccaridosis type VII (beta-glucuronidase deficiency)].

Tomatsu S, Fukuda S, Sukegawa K, Yamaguchi S, Sasaki T, Ikedo Y, Orii T. Tomatsu S, et al. Among authors: orii t. Rinsho Byori. 1990 Sep;38(9):1027-35. Rinsho Byori. 1990. PMID: 2232263 Japanese.

4

Mucopolysaccharidosis type II (Hunter disease): identification and characterization of eight point mutations in the iduronate-2-sulfatase gene in Japanese patients.

Sukegawa K, Tomatsu S, Fukao T, Iwata H, Song XQ, Yamada Y, Fukuda S, Isogai K, Orii T. Sukegawa K, et al. Among authors: orii t. Hum Mutat. 1995;6(2):136-43. doi: 10.1002/humu.1380060206. Hum Mutat. 1995. PMID: 7581397

5

Four novel mutations in mucopolysaccharidosis type VII including a unique base substitution in exon 10 of the beta-glucuronidase gene that creates a novel 5'-splice site.

Yamada S, Tomatsu S, Sly WS, Islam R, Wenger DA, Fukuda S, Sukegawa K, Orii T. Yamada S, et al. Among authors: orii t. Hum Mol Genet. 1995 Apr;4(4):651-5. doi: 10.1093/hmg/4.4.651. Hum Mol Genet. 1995. PMID: 7633414

6

Identification of a novel frameshift mutation in a Japanese adrenoleukodystrophy patient.

Song XQ, Fukao T, Suzuki Y, Imamura A, Uchiyama A, Shimozawa N, Kondo N, Orii T. Song XQ, et al. Among authors: orii t. Hum Mol Genet. 1995 Jun;4(6):1093-4. doi: 10.1093/hmg/4.6.1093. Hum Mol Genet. 1995. PMID: 7655465 No abstract available.

7

Molecular analysis by Southern blot for the N-acetylgalactosamine-6-sulphate sulphatase gene causing mucopolysaccharidosis IVA in the Japanese population.

Tomatsu S, Fukuda S, Uchiyama A, Hori T, Nakashima Y, Kondo N, Suzuki Y, Shimozawa N, Sukegawa K, Orii T. Tomatsu S, et al. Among authors: orii t. J Inherit Metab Dis. 1994;17(5):601-5. doi: 10.1007/BF00711598. J Inherit Metab Dis. 1994. PMID: 7837767 No abstract available.

8

Polymerase chain reaction detection of two novel human N-acetylgalactosamine-6-sulfate sulfatase gene polymorphisms by single-strand conformation polymorphism analysis or by StyI and StuI cleavages.

Tomatsu S, Fukuda S, Uchiyama A, Hori T, Nakashima Y, Sukegawa K, Kondo N, Suzuki Y, Shimozawa N, Orii T. Tomatsu S, et al. Among authors: orii t. Hum Genet. 1995 Feb;95(2):243-4. doi: 10.1007/BF00209415. Hum Genet. 1995. PMID: 7860078

9

New Gaucher disease mutations in exon 10: a novel L444R mutation produces a new NciI site the same as L444P.

Uchiyama A, Tomatsu S, Kondo N, Suzuki Y, Shimozawa N, Fukuda S, Sukegawa K, Taki N, Inamori H, Orii T. Uchiyama A, et al. Among authors: orii t. Hum Mol Genet. 1994 Jul;3(7):1183-4. doi: 10.1093/hmg/3.7.1183. Hum Mol Genet. 1994. PMID: 7981693 No abstract available.

10

Polymorphism in the GALNS gene.

Tomatsu S, Fukuda S, Iwata H, Ogawa T, Sukegawa K, Orii T. Tomatsu S, et al. Among authors: orii t. Hum Mol Genet. 1994 Jul;3(7):1208. Hum Mol Genet. 1994. PMID: 7981704 No abstract available.

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