Uehara T - Search Results

1

CDK19-related disorder results from both loss-of-function and gain-of-function de novo missense variants.

Zarate YA, Uehara T, Abe K, Oginuma M, Harako S, Ishitani S, Lehesjoki AE, Bierhals T, Kloth K, Ehmke N, Horn D, Holtgrewe M, Anderson K, Viskochil D, Edgar-Zarate CL, Sacoto MJG, Schnur RE, Morrow MM, Sanchez-Valle A, Pappas J, Rabin R, Muona M, Anttonen AK, Platzer K, Luppe J, Gburek-Augustat J, Kaname T, Okamoto N, Mizuno S, Kaido Y, Ohkuma Y, Hirose Y, Ishitani T, Kosaki K. Zarate YA, et al. Among authors: uehara t. Genet Med. 2021 Jun;23(6):1050-1057. doi: 10.1038/s41436-020-01091-9. Epub 2021 Jan 25. Genet Med. 2021. PMID: 33495529 Free article.

2

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. Among authors: uehara t. 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

3

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. Among authors: uehara t. 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

4

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. Among authors: uehara t. 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

5

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. Among authors: uehara t. 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

6

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. Among authors: uehara t. 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

7

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: uehara 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

8

Truncating mutation in CSNK2B and myoclonic epilepsy.

Sakaguchi Y, Uehara T, Suzuki H, Kosaki K, Takenouchi T. Sakaguchi Y, et al. Among authors: uehara 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.

9

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: uehara 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.

10

A novel BBS10 mutation identified in a patient with Bardet-Biedl syndrome with a violent emotional outbreak.

Ohto T, Enokizono T, Tanaka R, Tanaka M, Suzuki H, Sakai A, Imagawa K, Fukushima H, Fukushima T, Sumazaki R, Uehara T, Takenouchi T, Kosaki K. Ohto T, et al. Among authors: uehara t. Hum Genome Var. 2017 Aug 10;4:17033. doi: 10.1038/hgv.2017.33. eCollection 2017. Hum Genome Var. 2017. PMID: 28808579 Free PMC article.

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