Miyamura Y - Search Results

1

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.

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

Characterization of the human RAB38 and RAB7 genes: exclusion of new major pathological loci for Japanese OCA.

Suzuki T, Miyamura Y, Inagaki K, Tomita Y. Suzuki T, et al. Among authors: miyamura y. J Dermatol Sci. 2003 Aug;32(2):131-6. doi: 10.1016/s0923-1811(03)00071-9. J Dermatol Sci. 2003. PMID: 12850305

4

Oculocutaneous albinism type 4 is one of the most common types of albinism in Japan.

Inagaki K, Suzuki T, Shimizu H, Ishii N, Umezawa Y, Tada J, Kikuchi N, Takata M, Takamori K, Kishibe M, Tanaka M, Miyamura Y, Ito S, Tomita Y. Inagaki K, et al. Among authors: miyamura y. Am J Hum Genet. 2004 Mar;74(3):466-71. doi: 10.1086/382195. Epub 2004 Feb 11. Am J Hum Genet. 2004. PMID: 14961451 Free PMC article.

5

Sequence analysis of the human tyrosinase promoter from a patient with tyrosinase-negative oculocutaneous albinism.

Matsunaga J, Dakeishi M, Miyamura Y, Tomita Y. Matsunaga J, et al. Among authors: miyamura y. Pigment Cell Res. 1997 Feb-Apr;10(1-2):64-7. doi: 10.1111/j.1600-0749.1997.tb00468.x. Pigment Cell Res. 1997. PMID: 9170165

6

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

7

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.

8

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

9

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

10

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

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