Kure S - Search Results

1

Systematic molecular analyses of SHOX in Japanese patients with idiopathic short stature and Leri-Weill dyschondrosteosis.

Shima H, Tanaka T, Kamimaki T, Dateki S, Muroya K, Horikawa R, Kanno J, Adachi M, Naiki Y, Tanaka H, Mabe H, Yagasaki H, Kure S, Matsubara Y, Tajima T, Kashimada K, Ishii T, Asakura Y, Fujiwara I, Soneda S, Nagasaki K, Hamajima T, Kanzaki S, Jinno T, Ogata T, Fukami M; Japanese SHOX study group. Shima H, et al. Among authors: kure s. J Hum Genet. 2016 Jul;61(7):585-91. doi: 10.1038/jhg.2016.18. Epub 2016 Mar 17. J Hum Genet. 2016. PMID: 26984564

2

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.

3

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

4

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

5

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

6

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

7

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

8

Molecular analysis of methylmalonyl-CoA mutase deficiency: identification of three missense mutations in mut0 patients.

Mikami H, Ogasawara M, Matsubara Y, Kikuchi M, Miyabayashi S, Kure S, Narisawa K. Mikami H, et al. Among authors: kure s. J Hum Genet. 1999;44(1):35-9. doi: 10.1007/s100380050103. J Hum Genet. 1999. PMID: 9929975

9

Assignment of Gldc encoding glycine decarboxylase to mouse chromosome 19C by in situ hybridization and a CA repeat polymorphism in the Gldc gene.

Shinka T, Kure S, Sakata Y, Takayanagi M, Matsubara Y, Narisawa K. Shinka T, et al. Among authors: kure s. Cytogenet Cell Genet. 1998;83(3-4):260-1. doi: 10.1159/000015200. Cytogenet Cell Genet. 1998. PMID: 10072599 No abstract available.

10

Glycogen storage disease type Ib: structural and mutational analysis of the microsomal glucose-6-phosphate transporter gene.

Hou DC, Kure S, Suzuki Y, Hasegawa Y, Hara Y, Inoue T, Kida Y, Matsubara Y, Narisawa K. Hou DC, et al. Among authors: kure s. Am J Med Genet. 1999 Sep 17;86(3):253-7. doi: 10.1002/(sici)1096-8628(19990917)86:3<253::aid-ajmg11>3.0.co;2-7. Am J Med Genet. 1999. PMID: 10482875

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