Kure S - Search Results

1

A follow-up during puberty in a Japanese girl with type A insulin resistance due to a novel mutation in INSR.

Saito-Hakoda A, Nishii A, Uchida T, Kikuchi A, Kanno J, Fujiwara I, Kure S. Saito-Hakoda A, et al. Among authors: kure s. Clin Pediatr Endocrinol. 2018;27(1):53-57. doi: 10.1297/cpe.27.53. Epub 2018 Jan 30. Clin Pediatr Endocrinol. 2018. PMID: 29403157 Free PMC article. No abstract available.

2

A single nucleotide substitution that abolishes the initiator methionine codon of the GLDC gene is prevalent among patients with glycine encephalopathy in Jerusalem.

Boneh A, Korman SH, Sato K, Kanno J, Matsubara Y, Lerer I, Ben-Neriah Z, Kure S. Boneh A, et al. Among authors: kure s. J Hum Genet. 2005;50(5):230-234. doi: 10.1007/s10038-005-0243-y. Epub 2005 Apr 29. J Hum Genet. 2005. PMID: 15864413

3

Treatment from birth of nonketotic hyperglycinemia due to a novel GLDC mutation.

Korman SH, Wexler ID, Gutman A, Rolland MO, Kanno J, Kure S. Korman SH, et al. Among authors: kure s. Ann Neurol. 2006 Feb;59(2):411-5. doi: 10.1002/ana.20759. Ann Neurol. 2006. PMID: 16404748

4

De novo and salvage pathways of DNA synthesis in primary cultured neurall stem cells.

Sato K, Kanno J, Tominaga T, Matsubara Y, Kure S. Sato K, et al. Among authors: kure s. Brain Res. 2006 Feb 3;1071(1):24-33. doi: 10.1016/j.brainres.2005.11.039. Epub 2006 Jan 10. Brain Res. 2006. PMID: 16409993

5

A novel KCNQ4 one-base deletion in a large pedigree with hearing loss: implication for the genotype-phenotype correlation.

Kamada F, Kure S, Kudo T, Suzuki Y, Oshima T, Ichinohe A, Kojima K, Niihori T, Kanno J, Narumi Y, Narisawa A, Kato K, Aoki Y, Ikeda K, Kobayashi T, Matsubara Y. Kamada F, et al. Among authors: kure s. J Hum Genet. 2006;51(5):455-460. doi: 10.1007/s10038-006-0384-7. Epub 2006 Apr 5. J Hum Genet. 2006. PMID: 16596322

6

Rapid diagnosis of glycine encephalopathy by 13C-glycine breath test.

Kure S, Korman SH, Kanno J, Narisawa A, Kubota M, Takayanagi T, Takayanagi M, Saito T, Matsui A, Kamada F, Aoki Y, Ohura T, Matsubara Y. Kure S, et al. Ann Neurol. 2006 May;59(5):862-7. doi: 10.1002/ana.20853. Ann Neurol. 2006. PMID: 16634033

7

Inherited risk factors for deep venous thrombosis following total hip arthroplasty in Japanese patients: matched control study.

Kiyoshige Y, Kure S, Goto K, Ishii M, Kanno J, Hiratsuka M. Kiyoshige Y, et al. Among authors: kure s. J Orthop Sci. 2007 Mar;12(2):118-22. doi: 10.1007/s00776-006-1100-3. Epub 2007 Mar 30. J Orthop Sci. 2007. PMID: 17393265

8

Allelic and non-allelic heterogeneities in pyridoxine dependent seizures revealed by ALDH7A1 mutational analysis.

Kanno J, Kure S, Narisawa A, Kamada F, Takayanagi M, Yamamoto K, Hoshino H, Goto T, Takahashi T, Haginoya K, Tsuchiya S, Baumeister FA, Hasegawa Y, Aoki Y, Yamaguchi S, Matsubara Y. Kanno J, et al. Among authors: kure s. Mol Genet Metab. 2007 Aug;91(4):384-9. doi: 10.1016/j.ymgme.2007.02.010. Epub 2007 Apr 11. Mol Genet Metab. 2007. PMID: 17433748

9

Smith-Magenis syndrome with West syndrome in a 5-year-old girl: a long-term follow-up study.

Hino-Fukuyo N, Haginoya K, Uematsu M, Nakayama T, Kikuchi A, Kure S, Kamada F, Abe Y, Arai N, Togashi N, Onuma A, Tsuchiya S. Hino-Fukuyo N, et al. Among authors: kure s. J Child Neurol. 2009 Jul;24(7):868-73. doi: 10.1177/0883073808330186. Epub 2009 Mar 4. J Child Neurol. 2009. PMID: 19264735

10

Molecular and clinical analysis of RAF1 in Noonan syndrome and related disorders: dephosphorylation of serine 259 as the essential mechanism for mutant activation.

Kobayashi T, Aoki Y, Niihori T, Cavé H, Verloes A, Okamoto N, Kawame H, Fujiwara I, Takada F, Ohata T, Sakazume S, Ando T, Nakagawa N, Lapunzina P, Meneses AG, Gillessen-Kaesbach G, Wieczorek D, Kurosawa K, Mizuno S, Ohashi H, David A, Philip N, Guliyeva A, Narumi Y, Kure S, Tsuchiya S, Matsubara Y. Kobayashi T, et al. Among authors: kure s. Hum Mutat. 2010 Mar;31(3):284-94. doi: 10.1002/humu.21187. Hum Mutat. 2010. PMID: 20052757

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