Ihara K - Search Results

1

De novo missense mutations in NALCN cause developmental and intellectual impairment with hypotonia.

Fukai R, Saitsu H, Okamoto N, Sakai Y, Fattal-Valevski A, Masaaki S, Kitai Y, Torio M, Kojima-Ishii K, Ihara K, Chernuha V, Nakashima M, Miyatake S, Tanaka F, Miyake N, Matsumoto N. Fukai R, et al. Among authors: ihara k. J Hum Genet. 2016 May;61(5):451-5. doi: 10.1038/jhg.2015.163. Epub 2016 Jan 14. J Hum Genet. 2016. PMID: 26763878

2

Founder effect of the C9 R95X mutation in Orientals.

Khajoee V, Ihara K, Kira R, Takemoto M, Torisu H, Sakai Y, Guanjun J, Hee PM, Tokunaga K, Hara T. Khajoee V, et al. Among authors: ihara k. Hum Genet. 2003 Mar;112(3):244-8. doi: 10.1007/s00439-002-0870-8. Epub 2003 Jan 9. Hum Genet. 2003. PMID: 12596049

3

Novel mutations in five Japanese patients with 3-methylcrotonyl-CoA carboxylase deficiency.

Uematsu M, Sakamoto O, Sugawara N, Kumagai N, Morimoto T, Yamaguchi S, Hasegawa Y, Kobayashi H, Ihara K, Yoshino M, Watanabe Y, Inokuchi T, Yokoyama T, Kiwaki K, Nakamura K, Endo F, Tsuchiya S, Ohura T. Uematsu M, et al. Among authors: ihara k. J Hum Genet. 2007;52(12):1040-1043. doi: 10.1007/s10038-007-0211-9. Epub 2007 Oct 30. J Hum Genet. 2007. PMID: 17968484

4

PD1 as a common candidate susceptibility gene of subacute sclerosing panencephalitis.

Ishizaki Y, Yukaya N, Kusuhara K, Kira R, Torisu H, Ihara K, Sakai Y, Sanefuji M, Pipo-Deveza JR, Silao CL, Sanchez BC, Lukban MB, Salonga AM, Hara T. Ishizaki Y, et al. Among authors: ihara k. Hum Genet. 2010 Apr;127(4):411-9. doi: 10.1007/s00439-009-0781-z. Hum Genet. 2010. PMID: 20066438

5

Biotin deficiency in a glycogen storage disease type 1b girl fed only with glycogen storage disease-related formula.

Ihara K, Abe K, Hayakawa K, Makimura M, Kojima-Ishii K, Hara T. Ihara K, et al. Pediatr Dermatol. 2011 May-Jun;28(3):339-41. doi: 10.1111/j.1525-1470.2011.01238.x. Epub 2011 Mar 3. Pediatr Dermatol. 2011. PMID: 21371115

6

The signal transducer and activator of transcription 5B gene polymorphism contributes to the cholesterol metabolism in Japanese children with growth hormone deficiency.

Makimura M, Ihara K, Kojima-Ishii K, Nozaki T, Ohkubo K, Kohno H, Kishimoto J, Hara T. Makimura M, et al. Among authors: ihara k. Clin Endocrinol (Oxf). 2011 May;74(5):611-7. doi: 10.1111/j.1365-2265.2011.03980.x. Clin Endocrinol (Oxf). 2011. PMID: 21470284

7

HRAS mutants identified in Costello syndrome patients can induce cellular senescence: possible implications for the pathogenesis of Costello syndrome.

Niihori T, Aoki Y, Okamoto N, Kurosawa K, Ohashi H, Mizuno S, Kawame H, Inazawa J, Ohura T, Arai H, Nabatame S, Kikuchi K, Kuroki Y, Miura M, Tanaka T, Ohtake A, Omori I, Ihara K, Mabe H, Watanabe K, Niijima S, Okano E, Numabe H, Matsubara Y. Niihori T, et al. Among authors: ihara k. J Hum Genet. 2011 Oct;56(10):707-15. doi: 10.1038/jhg.2011.85. Epub 2011 Aug 18. J Hum Genet. 2011. PMID: 21850009

8

Hypothalamic pituitary complications in Kabuki syndrome.

Ito N, Ihara K, Tsutsumi Y, Miyake N, Matsumoto N, Hara T. Ito N, et al. Among authors: ihara k. Pituitary. 2013 Jun;16(2):133-8. doi: 10.1007/s11102-012-0386-8. Pituitary. 2013. PMID: 22434255

9

Coagulopathy in patients with late-onset ornithine transcarbamylase deficiency in remission state: a previously unrecognized complication.

Ihara K, Yoshino M, Hoshina T, Harada N, Kojima-Ishii K, Makimura M, Hasegawa Y, Watanabe Y, Yamaguchi S, Hara T. Ihara K, et al. Pediatrics. 2013 Jan;131(1):e327-30. doi: 10.1542/peds.2012-0030. Epub 2012 Dec 3. Pediatrics. 2013. PMID: 23209112

10

Hyperinsulinemic hypoglycemia of infancy in Sotos syndrome.

Matsuo T, Ihara K, Ochiai M, Kinjo T, Yoshikawa Y, Kojima-Ishii K, Noda M, Mizumoto H, Misaki M, Minagawa K, Tominaga K, Hara T. Matsuo T, et al. Among authors: ihara k. Am J Med Genet A. 2013 Jan;161A(1):34-7. doi: 10.1002/ajmg.a.35657. Epub 2012 Dec 13. Am J Med Genet A. 2013. PMID: 23239432

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

907 results

Search Page

Filters