Kosaki K - Search Results

1

Direct evaluation of neuroaxonal degeneration with the causative genes of neurodegenerative diseases in Drosophila using the automated axon quantification system, MeDUsA.

Nitta Y, Kawai H, Maki R, Osaka J, Hakeda-Suzuki S, Nagai Y, Doubková K, Uehara T, Watanabe K, Kosaki K, Suzuki T, Tavosanis G, Sugie A. Nitta Y, et al. Among authors: kosaki k. Hum Mol Genet. 2023 Apr 20;32(9):1524-1538. doi: 10.1093/hmg/ddac307. Hum Mol Genet. 2023. PMID: 36611008

2

Human homolog of the mouse imprinted gene Impact resides at the pericentric region of chromosome 18 within the critical region for bipolar affective disorder.

Kosaki K, Suzuki T, Kosaki R, Yoshihashi H, Itoh M, Goto Y, Matsuo N. Kosaki K, et al. Among authors: kosaki r. Mol Psychiatry. 2001 Jan;6(1):87-91. doi: 10.1038/sj.mp.4000799. Mol Psychiatry. 2001. PMID: 11244491

3

EYA1 mutation in a newborn female presenting with cardiofacial syndrome.

Shimasaki N, Watanabe K, Hara M, Kosaki K. Shimasaki N, et al. Among authors: kosaki k. Pediatr Cardiol. 2004 Jul-Aug;25(4):411-3. doi: 10.1007/s00246-003-0271-3. Pediatr Cardiol. 2004. PMID: 15493068

4

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: kosaki k. 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

5

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: kosaki k. 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

6

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: kosaki k. 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

7

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: kosaki k. 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

8

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: kosaki k. 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

9

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: kosaki k. 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

10

Truncating mutation in CSNK2B and myoclonic epilepsy.

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

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