Takenouchi T - Search Results

1

A case of autism spectrum disorder with cleft lip and palate carrying a mutation in exon 8 of AUTS2.

Saeki S, Enokizono T, Imagawa K, Fukushima H, Kajikawa D, Sakai A, Tanaka M, Ohto T, Suzuki H, Uehara T, Takenouchi T, Kenjiro K, Takada H. Saeki S, et al. Among authors: takenouchi t. Clin Case Rep. 2019 Sep 24;7(11):2059-2063. doi: 10.1002/ccr3.2377. eCollection 2019 Nov. Clin Case Rep. 2019. PMID: 31788251 Free PMC article.

2

Daytime somnolence in an adult with Smith-Magenis syndrome.

Takenouchi T, Saito H, Oishi N, Fukushima H, Kosaki R, Torii C, Takahashi T, Kenjiro K. Takenouchi T, et al. Am J Med Genet A. 2013 Jul;161A(7):1803-5. doi: 10.1002/ajmg.a.35936. Epub 2013 May 17. Am J Med Genet A. 2013. PMID: 23687097 No abstract available.

3

Further evidence of a mutation in CDC42 as a cause of a recognizable syndromic form of thrombocytopenia.

Takenouchi T, Okamoto N, Ida S, Uehara T, Kosaki K. Takenouchi T, et al. Am J Med Genet A. 2016 Apr;170A(4):852-5. doi: 10.1002/ajmg.a.37526. Epub 2015 Dec 28. Am J Med Genet A. 2016. PMID: 26708094

4

Establishing SON in 21q22.11 as a cause a new syndromic form of intellectual disability: Possible contribution to Braddock-Carey syndrome phenotype.

Takenouchi T, Miura K, Uehara T, Mizuno S, Kosaki K. Takenouchi T, et al. Am J Med Genet A. 2016 Oct;170(10):2587-90. doi: 10.1002/ajmg.a.37761. Epub 2016 Jun 3. Am J Med Genet A. 2016. PMID: 27256762

5

Hirschsprung disease as a yet undescribed phenotype in a patient with ARID1B mutation.

Takenouchi T, Yoshihashi H, Sakaguchi Y, Uehara T, Honda M, Takahashi T, Kosaki K, Miyama S. Takenouchi T, et al. Am J Med Genet A. 2016 Dec;170(12):3249-3252. doi: 10.1002/ajmg.a.37861. Epub 2016 Aug 11. Am J Med Genet A. 2016. PMID: 27511161

6

Diagnostic use of computational retrotransposon detection: Successful definition of pathogenetic mechanism in a ciliopathy phenotype.

Takenouchi T, Kuchikata T, Yoshihashi H, Fujiwara M, Uehara T, Miyama S, Yamada S, Kosaki K. Takenouchi T, et al. Am J Med Genet A. 2017 May;173(5):1353-1357. doi: 10.1002/ajmg.a.38167. Epub 2017 Apr 4. Am J Med Genet A. 2017. PMID: 28374938

7

Further evidence that a blepharophimosis syndrome phenotype is associated with a specific class of mutation in the ADNP gene.

Takenouchi T, Miwa T, Sakamoto Y, Sakaguchi Y, Uehara T, Takahashi T, Kosaki K. Takenouchi T, et al. Am J Med Genet A. 2017 Jun;173(6):1631-1634. doi: 10.1002/ajmg.a.38126. Epub 2017 Apr 13. Am J Med Genet A. 2017. PMID: 28407407

8

Expansion of the phenotype of Kosaki overgrowth syndrome.

Minatogawa M, Takenouchi T, Tsuyusaki Y, Iwasaki F, Uehara T, Kurosawa K, Kosaki K, Curry CJ. Minatogawa M, et al. Among authors: takenouchi t. Am J Med Genet A. 2017 Sep;173(9):2422-2427. doi: 10.1002/ajmg.a.38310. Epub 2017 Jun 22. Am J Med Genet A. 2017. PMID: 28639748

9

Truncating mutation in CSNK2B and myoclonic epilepsy.

Sakaguchi Y, Uehara T, Suzuki H, Kosaki K, Takenouchi T. Sakaguchi Y, et al. Among authors: takenouchi t. Hum Mutat. 2017 Nov;38(11):1611-1612. doi: 10.1002/humu.23307. Epub 2017 Sep 14. Hum Mutat. 2017. PMID: 28762608 No abstract available.

10

Co-occurrence of Sturge-Weber syndrome and Klippel-Trenaunay-Weber syndrome phenotype: Consideration of the historical aspect.

Sakaguchi Y, Takenouchi T, Uehara T, Kishi K, Takahashi T, Kosaki K. Sakaguchi Y, et al. Among authors: takenouchi t. Am J Med Genet A. 2017 Oct;173(10):2831-2833. doi: 10.1002/ajmg.a.38363. Epub 2017 Aug 6. Am J Med Genet A. 2017. PMID: 28782176 No abstract available.

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