Kawame H - Search Results

1

Syndrome of microcephaly, Dandy-Walker malformation, and Wilms tumor caused by mosaic variegated aneuploidy with premature centromere division (PCD): report of a new case and review of the literature.

Kawame H, Sugio Y, Fuyama Y, Hayashi Y, Suzuki H, Kurosawa K, Maekawa K. Kawame H, et al. J Hum Genet. 1999;44(4):219-24. doi: 10.1007/s100380050147. J Hum Genet. 1999. PMID: 10429359 Review.

2

Rapid identification of mutations in the glucocerebrosidase gene of Gaucher disease patients by analysis of single-strand conformation polymorphisms.

Kawame H, Hasegawa Y, Eto Y, Maekawa K. Kawame H, et al. Hum Genet. 1992 Nov;90(3):294-6. doi: 10.1007/BF00220082. Hum Genet. 1992. PMID: 1487244

3

Characteristics of gene mutations among 32 unrelated Japanese Gaucher disease patients: absence of the common Jewish 84GG and 1226G mutations.

Ida H, Iwasawa K, Kawame H, Rennert OM, Maekawa K, Eto Y. Ida H, et al. Among authors: kawame h. Hum Genet. 1995 Jun;95(6):717-20. doi: 10.1007/BF00209497. Hum Genet. 1995. PMID: 7789963

4

Molecular screening of Japanese patients with Gaucher disease: phenotypic variability in the same genotypes.

Kawame H, Maekawa K, Eto Y. Kawame H, et al. Hum Mutat. 1993;2(5):362-7. doi: 10.1002/humu.1380020507. Hum Mutat. 1993. PMID: 8257989

5

Mutation screening of 17 Japanese patients with neuropathic Gaucher disease.

Ida H, Rennert OM, Kawame H, Ito T, Maekawa K, Eto Y. Ida H, et al. Among authors: kawame h. Hum Genet. 1996 Aug;98(2):167-71. doi: 10.1007/s004390050182. Hum Genet. 1996. PMID: 8698334

6

Mutation prevalence among 47 unrelated Japanese patients with Gaucher disease: identification of four novel mutations.

Ida H, Rennert OM, Kawame H, Maekawa K, Eto Y. Ida H, et al. Among authors: kawame h. J Inherit Metab Dis. 1997 Mar;20(1):67-73. doi: 10.1023/a:1005313724361. J Inherit Metab Dis. 1997. PMID: 9061570

7

Osteogenesis imperfecta-like syndrome with severe mental retardation and extrapyramidal tract signs.

Nishimura G, Kurosawa K, Kobayashi H, Kawame H. Nishimura G, et al. Among authors: kawame h. Pediatr Radiol. 1998 Nov;28(11):856-8. doi: 10.1007/s002470050482. Pediatr Radiol. 1998. PMID: 9799318 Review.

8

[Clinical spectrum and management of holoprosencephaly].

Kawame H, Kurosawa K, Akatsuka A, Ochiai Y. Kawame H, et al. No To Hattatsu. 2000 Jul;32(4):301-6. No To Hattatsu. 2000. PMID: 10916368 Japanese.

9

Polymicrogyria is an uncommon manifestation in 22q11.2 deletion syndrome.

Kawame H, Kurosawa K, Akatsuka A, Ochiai Y, Mizuno K. Kawame H, et al. Am J Med Genet. 2000 Sep 4;94(1):77-8. doi: 10.1002/1096-8628(20000904)94:1<77::aid-ajmg16>3.0.co;2-v. Am J Med Genet. 2000. PMID: 10982488 No abstract available.

10

Functional disomy for Xq26.3-qter in a boy with an unbalanced t(X;21)(q26.3;p11.2) translocation.

Akiyama M, Kawame H, Ohashi H, Tohma T, Ohta H, Shishikura A, Miyata I, Usui N, Eto Y. Akiyama M, et al. Among authors: kawame h. Am J Med Genet. 2001 Mar 1;99(2):111-4. doi: 10.1002/1096-8628(2001)9999:9999<::aid-ajmg1150>3.0.co;2-c. Am J Med Genet. 2001. PMID: 11241467 Review.

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