Iinuma K - Search Results

1

Mutation detection by TaqMan-allele specific amplification: application to molecular diagnosis of glycogen storage disease type Ia and medium-chain acyl-CoA dehydrogenase deficiency.

Fujii K, Matsubara Y, Akanuma J, Takahashi K, Kure S, Suzuki Y, Imaizumi M, Iinuma K, Sakatsume O, Rinaldo P, Narisawa K. Fujii K, et al. Among authors: iinuma k. Hum Mutat. 2000;15(2):189-96. doi: 10.1002/(SICI)1098-1004(200002)15:2<189::AID-HUMU8>3.0.CO;2-H. Hum Mutat. 2000. PMID: 10649496

2

Glycogen storage disease type Ia: molecular diagnosis of 51 Japanese patients and characterization of splicing mutations by analysis of ectopically transcribed mRNA from lymphoblastoid cells.

Akanuma J, Nishigaki T, Fujii K, Matsubara Y, Inui K, Takahashi K, Kure S, Suzuki Y, Ohura T, Miyabayashi S, Ogawa E, Iinuma K, Okada S, Narisawa K. Akanuma J, et al. Among authors: iinuma k. Am J Med Genet. 2000 Mar 13;91(2):107-12. Am J Med Genet. 2000. PMID: 10748407

3

A novel splicing mutation in propionic acidemia associated with a tetranucleotide direct repeat in the PCCB gene.

Ohura T, Narisawa K, Tada K, Iinuma K. Ohura T, et al. Among authors: iinuma k. Hum Genet. 1995 Jun;95(6):707-8. doi: 10.1007/BF00209492. Hum Genet. 1995. PMID: 7789958

4

Molecular analysis of Japanese patients with steroid 21-hydroxylase deficiency.

Asanuma A, Ohura T, Ogawa E, Sato S, Igarashi Y, Matsubara Y, Iinuma K. Asanuma A, et al. Among authors: iinuma k. J Hum Genet. 1999;44(5):312-7. doi: 10.1007/s100380050167. J Hum Genet. 1999. PMID: 10496074

5

Mutation analysis of the propionyl-CoA carboxylase alpha-subunit gene in four Japanese patients with propionic acidaemia.

Ohura T, Narisawa K, Iinuma K. Ohura T, et al. Among authors: iinuma k. J Inherit Metab Dis. 1999 Oct;22(7):851-2. doi: 10.1023/a:1005578612668. J Inherit Metab Dis. 1999. PMID: 10518292 No abstract available.

6

Mutation analysis of the GLUT2 gene in patients with Fanconi-Bickel syndrome.

Sakamoto O, Ogawa E, Ohura T, Igarashi Y, Matsubara Y, Narisawa K, Iinuma K. Sakamoto O, et al. Among authors: iinuma k. Pediatr Res. 2000 Nov;48(5):586-9. doi: 10.1203/00006450-200011000-00005. Pediatr Res. 2000. PMID: 11044475

7

A novel mutation in glial fibrillary acidic protein gene in a patient with Alexander disease.

Aoki Y, Haginoya K, Munakata M, Yokoyama H, Nishio T, Togashi N, Ito T, Suzuki Y, Kure S, Iinuma K, Brenner M, Matsubara Y. Aoki Y, et al. Among authors: iinuma k. Neurosci Lett. 2001 Oct 19;312(2):71-4. doi: 10.1016/s0304-3940(01)02139-5. Neurosci Lett. 2001. PMID: 11595337

8

Progressive pulmonary hypertension: a fatal complication of type I glycogen storage disease.

Ohura T, Inoue CN, Abukawa D, Chiba AT, Tanaka T, Kakizawa H, Miyabayashi S, Igarashi Y, Iinuma K, Narisawa K. Ohura T, et al. Among authors: iinuma k. J Inherit Metab Dis. 1995;18(3):361-2. doi: 10.1007/BF00710433. J Inherit Metab Dis. 1995. PMID: 7474908 No abstract available.

9

An 84 bp insertion found in a propionic acidaemia patient is not a disease-causing mutation but a product of cryptic mRNA.

Ohura T, Narisawa K, Tada K, Iinuma K. Ohura T, et al. Among authors: iinuma k. J Inherit Metab Dis. 1999 Jun;22(5):676-7. doi: 10.1023/a:1005506819699. J Inherit Metab Dis. 1999. PMID: 10399105 No abstract available.

10

Establishment of a novel cell line (TS-2) of pre-B acute lymphoblastic leukemia with a t(1;19) not involving the E2A gene.

Yoshinari M, Imaizumi M, Eguchi M, Ogasawara M, Saito T, Suzuki H, Koizumi Y, Cui Y, Sato A, Saisho T, Ichinohasama R, Matsubara Y, Kamada N, Iinuma K. Yoshinari M, et al. Among authors: iinuma k. Cancer Genet Cytogenet. 1998 Mar;101(2):95-102. doi: 10.1016/s0165-4608(97)00260-4. Cancer Genet Cytogenet. 1998. PMID: 9494609

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