Kure S - Search Results

1

Mutation analysis of the SHOC2 gene in Noonan-like syndrome and in hematologic malignancies.

Komatsuzaki S, Aoki Y, Niihori T, Okamoto N, Hennekam RC, Hopman S, Ohashi H, Mizuno S, Watanabe Y, Kamasaki H, Kondo I, Moriyama N, Kurosawa K, Kawame H, Okuyama R, Imaizumi M, Rikiishi T, Tsuchiya S, Kure S, Matsubara Y. Komatsuzaki S, et al. Among authors: kure s. J Hum Genet. 2010 Dec;55(12):801-9. doi: 10.1038/jhg.2010.116. Epub 2010 Sep 30. J Hum Genet. 2010. PMID: 20882035

2

Novel phenylketonuria mutation detected by analysis of ectopically transcribed phenylalanine hydroxylase mRNA from lymphoblast.

Takahashi K, Kure S, Matsubara Y, Narisawa K. Takahashi K, et al. Among authors: kure s. Lancet. 1992 Dec 12;340(8833):1473. doi: 10.1016/0140-6736(92)92665-3. Lancet. 1992. PMID: 1360590 No abstract available.

3

Ectopic transcription: an application to the analysis of splicing errors in phenylalanine hydroxylase mRNA.

Takahashi K, Masamune A, Kure S, Matsubara Y, Narisawa K. Takahashi K, et al. Among authors: kure s. Acta Paediatr Suppl. 1994 Dec;407:45-6. doi: 10.1111/j.1651-2227.1994.tb13449.x. Acta Paediatr Suppl. 1994. PMID: 7766957 No abstract available.

4

Nonketotic hyperglycinemia: biochemical, molecular, and neurological aspects.

Kure S, Tada K, Narisawa K. Kure S, et al. Jpn J Hum Genet. 1997 Mar;42(1):13-22. doi: 10.1007/BF02766917. Jpn J Hum Genet. 1997. PMID: 9183995 Review.

5

Molecular analysis of dihydropteridine reductase deficiency: identification of two novel mutations in Japanese patients.

Ikeda H, Matsubara Y, Mikami H, Kure S, Owada M, Gough T, Smooker PM, Dobbs M, Dahl HH, Cotton RG, Narisawa K. Ikeda H, et al. Among authors: kure s. Hum Genet. 1997 Oct;100(5-6):637-42. doi: 10.1007/s004390050566. Hum Genet. 1997. PMID: 9341885

6

A missense mutation (His42Arg) in the T-protein gene from a large Israeli-Arab kindred with nonketotic hyperglycinemia.

Kure S, Mandel H, Rolland MO, Sakata Y, Shinka T, Drugan A, Boneh A, Tada K, Matsubara Y, Narisawa K. Kure S, et al. Hum Genet. 1998 Apr;102(4):430-4. doi: 10.1007/s004390050716. Hum Genet. 1998. PMID: 9600239

7

Two CPT2 mutations in three Japanese patients with carnitine palmitoyltransferase II deficiency: functional analysis and association with polymorphic haplotypes and two clinical phenotypes.

Wataya K, Akanuma J, Cavadini P, Aoki Y, Kure S, Invernizzi F, Yoshida I, Kira J, Taroni F, Matsubara Y, Narisawa K. Wataya K, et al. Among authors: kure s. Hum Mutat. 1998;11(5):377-86. doi: 10.1002/(SICI)1098-1004(1998)11:5<377::AID-HUMU5>3.0.CO;2-E. Hum Mutat. 1998. PMID: 9600456

8

Mutation and polymorphic marker analyses of 65K- and 67K-glutamate decarboxylase genes in two families with pyridoxine-dependent epilepsy.

Kure S, Sakata Y, Miyabayashi S, Takahashi K, Shinka T, Matsubara Y, Hoshino H, Narisawa K. Kure S, et al. J Hum Genet. 1998;43(2):128-31. doi: 10.1007/s100380050053. J Hum Genet. 1998. PMID: 9621518

9

A one-base deletion (183delC) and a missense mutation (D276H) in the T-protein gene from a Japanese family with nonketotic hyperglycinemia.

Kure S, Shinka T, Sakata Y, Osamu N, Takayanagi M, Tada K, Matsubara Y, Narisawa K. Kure S, et al. J Hum Genet. 1998;43(2):135-7. doi: 10.1007/s100380050055. J Hum Genet. 1998. PMID: 9621520

10

Molecular analysis of glycogen storage disease type Ib: identification of a prevalent mutation among Japanese patients and assignment of a putative glucose-6-phosphate translocase gene to chromosome 11.

Kure S, Suzuki Y, Matsubara Y, Sakamoto O, Shintaku H, Isshiki G, Hoshida C, Izumi I, Sakura N, Narisawa K. Kure S, et al. Biochem Biophys Res Commun. 1998 Jul 20;248(2):426-31. doi: 10.1006/bbrc.1998.8985. Biochem Biophys Res Commun. 1998. PMID: 9675154

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