Miyamura Y - Search Results

1

Five novel mutations in tyrosinase gene of Japanese and Indian patients with oculocutaneous albinism type I (OCA1).

Miyamura Y, Verma IC, Saxena R, Hoshi M, Murase A, Nakamura E, Kono M, Suzuki T, Yasue S, Shibata S, Sakakibara A, Tomita Y. Miyamura Y, et al. J Invest Dermatol. 2005 Aug;125(2):397-8. doi: 10.1111/j.0022-202X.2005.23815.x. J Invest Dermatol. 2005. PMID: 16098056 Free article. No abstract available.

2

A novel mutation of the tyrosinase gene causing oculocutaneous albinism type 1 (OCA1).

Nakamura E, Miyamura Y, Matsunaga J, Kano Y, Dakeishi-Hara M, Tanita M, Kono M, Tomita Y. Nakamura E, et al. Among authors: miyamura y. J Dermatol Sci. 2002 Feb;28(2):102-5. doi: 10.1016/s0923-1811(01)00141-4. J Dermatol Sci. 2002. PMID: 11858948

3

Six novel P gene mutations and oculocutaneous albinism type 2 frequency in Japanese albino patients.

Suzuki T, Miyamura Y, Matsunaga J, Shimizu H, Kawachi Y, Ohyama N, Ishikawa O, Ishikawa T, Terao H, Tomita Y. Suzuki T, et al. Among authors: miyamura y. J Invest Dermatol. 2003 May;120(5):781-3. doi: 10.1046/j.1523-1747.2003.12127.x. J Invest Dermatol. 2003. PMID: 12713581 Free article.

4

Establishment of tyrosinase sequence database in normally pigmented Indians and Japanese for rapid determination of novel mutations.

Miyamura Y, Verma IC, Saxena R, Murase A, Kono M, Suzuki T, Yasue S, Shibata S, Sakakibara A, Tomita Y. Miyamura Y, et al. J Dermatol Sci. 2005 Sep;39(3):167-73. doi: 10.1016/j.jdermsci.2005.03.004. J Dermatol Sci. 2005. PMID: 15885985

5

Oculocutaneous albinism and analysis of tyrosinase gene in Japanese patients.

Tomita Y, Miyamura Y. Tomita Y, et al. Among authors: miyamura y. Nagoya J Med Sci. 1998 Oct;61(3-4):97-102. Nagoya J Med Sci. 1998. PMID: 9879192 Review.

6

Polymorphic sequences of the tyrosinase gene: allele analysis on 16 OCA1 patients in Japan indicate that three polymorphic sequences in the tyrosinase gene promoter could be powerful markers for indirect gene diagnosis.

Tanita M, Matsunaga J, Miyamura Y, Dakeishi M, Nakamura E, Kono M, Shimizu H, Tagami H, Tomita Y. Tanita M, et al. Among authors: miyamura y. J Hum Genet. 2002;47(1):1-6. doi: 10.1007/s10038-002-8648-3. J Hum Genet. 2002. PMID: 11829136

7

High frequency of the Ala481Thr mutation of the P gene in the Japanese population.

Suzuki T, Miyamura Y, Tomita Y. Suzuki T, et al. Among authors: miyamura y. Am J Med Genet A. 2003 May 1;118A(4):402-3. doi: 10.1002/ajmg.a.20044. Am J Med Genet A. 2003. PMID: 12687678 No abstract available.

8

Sequence-based diagnosis of tyrosinase-related oculocutaneous albinism: successful sequence analysis of the tyrosinase gene from blood spots dried on filter paper.

Matsunaga J, Dakeishi-Hara M, Miyamura Y, Nakamura E, Tanita M, Satomura K, Tomita Y. Matsunaga J, et al. Among authors: miyamura y. Dermatology. 1998;196(2):189-93. doi: 10.1159/000017897. Dermatology. 1998. PMID: 9568405

9

A splicing mutation of the tyrosinase gene causes yellow oculocutaneous albinism in a Japanese patient with a pigmented phenotype.

Matsunaga J, Dakeishi-Hara M, Tanita M, Nindl M, Nagata Y, Nakamura E, Miyamura Y, Kikuchi K, Furue M, Tomita Y. Matsunaga J, et al. Among authors: miyamura y. Dermatology. 1999;199(2):124-9. doi: 10.1159/000018218. Dermatology. 1999. PMID: 10559577

10

Molecular bases of congenital hypopigmentary disorders in humans and oculocutaneous albinism 1 in Japan.

Tomita Y, Miyamura Y, Kono M, Nakamura R, Matsunaga J. Tomita Y, et al. Among authors: miyamura y. Pigment Cell Res. 2000;13 Suppl 8:130-4. doi: 10.1034/j.1600-0749.13.s8.23.x. Pigment Cell Res. 2000. PMID: 11041370

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