Kure S - Search Results

1

Association between nonsyndromic cleft lip with or without cleft palate and the glutamic acid decarboxylase 67 gene in the Japanese population.

Kanno K, Suzuki Y, Yamada A, Aoki Y, Kure S, Matsubara Y. Kanno K, et al. Among authors: kure s. Am J Med Genet A. 2004 May 15;127A(1):11-16. doi: 10.1002/ajmg.a.20649. Am J Med Genet A. 2004. PMID: 15103710

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 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

9

A subtype of pyridoxine-dependent epilepsy with normal CSF glutamate concentration.

Kure S, Maeda T, Fukushima N, Ohura T, Takahashi K, Nishikawa T, Matsubara Y, Izumi T, Narisawa K. Kure S, et al. J Inherit Metab Dis. 1998 Jun;21(4):431-2. doi: 10.1023/a:1005375229278. J Inherit Metab Dis. 1998. PMID: 9700605 No abstract available.

10

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

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Article Language

Species

Sex

Age

Other

478 results

Search Page

Filters