Kuwajima K - Search Results

1

Methyl-CpG binding protein 2 gene (MECP2) variations in Japanese patients with Rett syndrome: pathological mutations and polymorphisms.

Fukuda T, Yamashita Y, Nagamitsu S, Miyamoto K, Jin JJ, Ohmori I, Ohtsuka Y, Kuwajima K, Endo S, Iwai T, Yamagata H, Tabara Y, Miki T, Matsuishi T, Kondo I. Fukuda T, et al. Among authors: kuwajima k. Brain Dev. 2005 Apr;27(3):211-7. doi: 10.1016/j.braindev.2004.06.003. Brain Dev. 2005. PMID: 15737703

2

Missense mutations in the phosphomannomutase 2 gene of two Japanese siblings with carbohydrate-deficient glycoprotein syndrome type I.

Mizugishi K, Yamanaka K, Kuwajima K, Yuasa I, Shigemoto K, Kondo I. Mizugishi K, et al. Among authors: kuwajima k. Brain Dev. 1999 Jun;21(4):223-8. doi: 10.1016/s0387-7604(99)00004-2. Brain Dev. 1999. PMID: 10392743

3

Mutation analysis of the methyl-CpG binding protein 2 gene (MECP2) in patients with Rett syndrome.

Obata K, Matsuishi T, Yamashita Y, Fukuda T, Kuwajima K, Horiuchi I, Nagamitsu S, Iwanaga R, Kimura A, Omori I, Endo S, Mori K, Kondo I. Obata K, et al. Among authors: kuwajima k. J Med Genet. 2000 Aug;37(8):608-10. doi: 10.1136/jmg.37.8.608. J Med Genet. 2000. PMID: 10991688 Free PMC article. No abstract available.

4

A Japanese male infant with the Weaver syndrome.

Kondo I, Mori Y, Kuwajima K. Kondo I, et al. Among authors: kuwajima k. Jinrui Idengaku Zasshi. 1990 Sep;35(3):257-62. doi: 10.1007/BF01876855. Jinrui Idengaku Zasshi. 1990. PMID: 2266602

5

Missense mutations in phosphomannomutase 2 gene in two Japanese families with carbohydrate-deficient glycoprotein syndrome type 1.

Kondo I, Mizugishi K, Yoneda Y, Hashimoto T, Kuwajima K, Yuasa I, Shigemoto K, Kuroda Y. Kondo I, et al. Among authors: kuwajima k. Clin Genet. 1999 Jan;55(1):50-4. doi: 10.1034/j.1399-0004.1999.550109.x. Clin Genet. 1999. PMID: 10066032

6

Weaver syndrome in two Japanese children.

Kondo I, Mori Y, Kuwajima K. Kondo I, et al. Among authors: kuwajima k. Am J Med Genet. 1991 Nov 1;41(2):221-4. doi: 10.1002/ajmg.1320410218. Am J Med Genet. 1991. PMID: 1785638 Review.

7

An AciI polymorphism in the 3' untranslated region of the human phosphomannomutase 2 (PMM2) gene.

Mizugishi K, Kuwajima K, Obata K, Kondo I. Mizugishi K, et al. Among authors: kuwajima k. J Hum Genet. 1999;44(4):266-7. doi: 10.1007/s100380050157. J Hum Genet. 1999. PMID: 10429369

8

Interstitial deletion of chromosome 7q in a patient with Williams syndrome and infantile spasms.

Mizugishi K, Yamanaka K, Kuwajima K, Kondo I. Mizugishi K, et al. Among authors: kuwajima k. J Hum Genet. 1998;43(3):178-81. doi: 10.1007/s100380050064. J Hum Genet. 1998. PMID: 9747030

9

A Japanese patient with the Dubowitz syndrome.

Kondo I, Takeda K, Kuwajima K, Hirano T. Kondo I, et al. Among authors: kuwajima k. Clin Genet. 1987 Jun;31(6):389-92. doi: 10.1111/j.1399-0004.1987.tb02830.x. Clin Genet. 1987. PMID: 3621642

10

Familial occurrence of ring chromosome 15.

Horigome Y, Kondo I, Kuwajima K, Suzuki T. Horigome Y, et al. Among authors: kuwajima k. Clin Genet. 1992 Apr;41(4):178-80. doi: 10.1111/j.1399-0004.1992.tb03659.x. Clin Genet. 1992. PMID: 1576754

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