Yamada N - Search Results

1

Mucopolysaccharidosis IVA: a novel splice acceptor site mutation in intron 4 of the N-acetylgalactosamine-6-sulfate sulfatase gene in an Afghanistan girl with classical Morquio disease.

Fukuda S, Yamada N, Tomatsu S, Sukegawa K, Montaño AM, Hopwood JJ, Muller V, Orii T, Kondo N. Fukuda S, et al. Among authors: yamada n. Jpn J Hum Genet. 1997 Jun;42(2):317-22. doi: 10.1007/BF02766953. Jpn J Hum Genet. 1997. PMID: 9290256

2

The mouse N-acetylgalactosamine-6-sulfate sulfatase (Galns) gene: cDNA isolation, genomic characterization, chromosomal assignment and analysis of the 5'-flanking region.

Montaño AM, Yamagishi A, Tomatsu S, Fukuda S, Copeland NG, Orii KE, Isogai K, Yamada N, Kato ZI, Jenkins NA, Gilbert DJ, Sukegawa K, Orii T, Kondo N. Montaño AM, et al. Among authors: yamada n. Biochim Biophys Acta. 2000 Mar 17;1500(3):323-34. doi: 10.1016/s0925-4439(99)00119-2. Biochim Biophys Acta. 2000. PMID: 10699374 Free article.

3

Two new mutations, Q473X and N487S, in a Caucasian patient with mucopolysaccharidosis IVA (Morquio disease).

Tomatsu S, Fukuda S, Cooper A, Wraith JE, Yamada N, Isogai K, Kato Z, Sukegawa K, Kondo N, Suzuki Y, et al. Tomatsu S, et al. Among authors: yamada n. Hum Mutat. 1995;6(2):195-6. doi: 10.1002/humu.1380060218. Hum Mutat. 1995. PMID: 7581409 No abstract available.

4

Mucopolysaccharidosis type IVA: identification of six novel mutations among non-Japanese patients.

Tomatsu S, Fukuda S, Cooper A, Wraith JE, Rezvi GM, Yamagishi A, Yamada N, Kato Z, Isogai K, Sukegawa K, et al. Tomatsu S, et al. Among authors: yamada n. Hum Mol Genet. 1995 Apr;4(4):741-3. doi: 10.1093/hmg/4.4.741. Hum Mol Genet. 1995. PMID: 7633425 No abstract available.

5

Mucopolysaccharidosis IVA: identification of a common missense mutation I113F in the N-Acetylgalactosamine-6-sulfate sulfatase gene.

Tomatsu S, Fukuda S, Cooper A, Wraith JE, Rezvi GM, Yamagishi A, Yamada N, Kato Z, Isogai K, Sukegawa K, et al. Tomatsu S, et al. Among authors: yamada n. Am J Hum Genet. 1995 Sep;57(3):556-63. Am J Hum Genet. 1995. PMID: 7668283 Free PMC article.

6

Mucopolysaccharidosis IVA: structural gene alterations identified by Southern blot analysis and identification of racial differences.

Tomatsu S, Fukuda S, Cooper A, Wraith JE, Uchiyama A, Hori T, Nakashima Y, Yamada N, Sukegawa K, Kondo N, et al. Tomatsu S, et al. Among authors: yamada n. Hum Genet. 1995 Apr;95(4):376-81. doi: 10.1007/BF00208958. Hum Genet. 1995. PMID: 7705830

7

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: yamada n. Am J Hum Genet. 1996 May;58(5):950-62. Am J Hum Genet. 1996. PMID: 8651279 Free PMC article.

8

Mucopolysaccharidosis IVA: a comparative study of polymorphic DNA haplotypes in the Caucasian and Japanese populations.

Rezvi GM, Tomatsu S, Fukuda S, Yamagishi A, Cooper A, Wraith JE, Iwata H, Kato Z, Yamada N, Sukegawa K, Shimozawa N, Suzuki Y, Kondo N, Orii T. Rezvi GM, et al. Among authors: yamada n. J Inherit Metab Dis. 1996;19(3):301-8. doi: 10.1007/BF01799258. J Inherit Metab Dis. 1996. PMID: 8803772 Free article.

9

Mucopolysaccharidosis IVA (Morquio A): three novel small deletions in the N-acetylgalactosamine-6-sulfate sulfatase gene.

Fukuda S, Tomatsu S, Cooper A, Wraith JE, Kato Z, Yamada N, Isogai K, Sukegawa K, Kondo N, Orii T. Fukuda S, et al. Among authors: yamada n. Hum Mutat. 1996;8(2):187-90. doi: 10.1002/(SICI)1098-1004(1996)8:2<187::AID-HUMU14>3.0.CO;2-Z. Hum Mutat. 1996. PMID: 8844220 No abstract available.

10

Fourteen novel mucopolysaccharidosis IVA producing mutations in GALNS gene.

Tomatsu S, Fukuda S, Cooper A, Wraith JE, Ferreira P, Di Natale P, Tortora P, Fujimoto A, Kato Z, Yamada N, Isogai K, Yamagishi A, Sukegawa K, Suzuki Y, Shimozawa N, Kondo N, Sly WS, Orii T. Tomatsu S, et al. Among authors: yamada n. Hum Mutat. 1997;10(5):368-75. doi: 10.1002/(SICI)1098-1004(1997)10:5<368::AID-HUMU6>3.0.CO;2-B. Hum Mutat. 1997. PMID: 9375852

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