Kanno J - Search Results

1

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. Among authors: kanno j. Ann Neurol. 2006 May;59(5):862-7. doi: 10.1002/ana.20853. Ann Neurol. 2006. PMID: 16634033

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: kanno j. 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: kanno j. Ann Neurol. 2006 Feb;59(2):411-5. doi: 10.1002/ana.20759. Ann Neurol. 2006. PMID: 16404748

4

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: kanno j. 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

5

[Sohval-Soffer syndrome].

Kanno J, Matsubara Y. Kanno J, et al. Nihon Rinsho. 2006 Sep 28;Suppl 3:492-3. Nihon Rinsho. 2006. PMID: 17022595 Review. Japanese. No abstract available.

6

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. 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

7

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: kanno j. 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

8

A genome-wide association study identifies RNF213 as the first Moyamoya disease gene.

Kamada F, Aoki Y, Narisawa A, Abe Y, Komatsuzaki S, Kikuchi A, Kanno J, Niihori T, Ono M, Ishii N, Owada Y, Fujimura M, Mashimo Y, Suzuki Y, Hata A, Tsuchiya S, Tominaga T, Matsubara Y, Kure S. Kamada F, et al. Among authors: kanno j. J Hum Genet. 2011 Jan;56(1):34-40. doi: 10.1038/jhg.2010.132. Epub 2010 Nov 4. J Hum Genet. 2011. PMID: 21048783

9

Genomic deletion within GLDC is a major cause of non-ketotic hyperglycinaemia.

Kanno J, Hutchin T, Kamada F, Narisawa A, Aoki Y, Matsubara Y, Kure S. Kanno J, et al. J Med Genet. 2007 Mar;44(3):e69. doi: 10.1136/jmg.2006.043448. J Med Genet. 2007. PMID: 17361008 Free PMC article.

10

Mutations in PIGL in a patient with Mabry syndrome.

Fujiwara I, Murakami Y, Niihori T, Kanno J, Hakoda A, Sakamoto O, Okamoto N, Funayama R, Nagashima T, Nakayama K, Kinoshita T, Kure S, Matsubara Y, Aoki Y. Fujiwara I, et al. Among authors: kanno j. Am J Med Genet A. 2015 Apr;167A(4):777-85. doi: 10.1002/ajmg.a.36987. Epub 2015 Feb 23. Am J Med Genet A. 2015. PMID: 25706356

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