Yagihashi T - Search Results

1

Ophthalmic features of CHARGE syndrome with CHD7 mutations.

Nishina S, Kosaki R, Yagihashi T, Azuma N, Okamoto N, Hatsukawa Y, Kurosawa K, Yamane T, Mizuno S, Tsuzuki K, Kosaki K. Nishina S, et al. Among authors: yagihashi t. Am J Med Genet A. 2012 Mar;158A(3):514-8. doi: 10.1002/ajmg.a.34400. Epub 2012 Feb 2. Am J Med Genet A. 2012. PMID: 22302456

2

Case report: Adult phenotype of Mulvihill-Smith syndrome.

Yagihashi T, Kato M, Izumi K, Kosaki R, Yago K, Tsubota K, Sato Y, Okubo M, Watanabe G, Takahashi T, Kosaki K. Yagihashi T, et al. Am J Med Genet A. 2009 Mar;149A(3):496-500. doi: 10.1002/ajmg.a.32551. Am J Med Genet A. 2009. PMID: 19213035

3

Age-dependent change in behavioral feature in Rubinstein-Taybi syndrome.

Yagihashi T, Kosaki K, Okamoto N, Mizuno S, Kurosawa K, Takahashi T, Sato Y, Kosaki R. Yagihashi T, et al. Congenit Anom (Kyoto). 2012 Jun;52(2):82-6. doi: 10.1111/j.1741-4520.2012.00356.x. Congenit Anom (Kyoto). 2012. PMID: 22639993

4

Tissue-limited ring chromosome 18 mosaicism as a cause of Pitt-Hopkins syndrome.

Takenouchi T, Yagihashi T, Tsuchiya H, Torii C, Hayashi K, Kosaki R, Saitoh S, Takahashi T, Kosaki K. Takenouchi T, et al. Among authors: yagihashi t. Am J Med Genet A. 2012 Oct;158A(10):2621-3. doi: 10.1002/ajmg.a.35230. Epub 2012 Aug 10. Am J Med Genet A. 2012. PMID: 22887345 No abstract available.

5

Learning disability and myoclonic epilepsy associated with apparently synonymous but splice-disrupting JMJD1C variant that led to 21 bp deletion of the transcript.

Yamada M, Sokoda T, Uehara T, Suzuki H, Takenouchi T, Yagihashi T, Maruo Y, Kosaki K. Yamada M, et al. Among authors: yagihashi t. Am J Med Genet A. 2020 Dec;182(12):3064-3067. doi: 10.1002/ajmg.a.61892. Epub 2020 Sep 30. Am J Med Genet A. 2020. PMID: 32996679 No abstract available.

6

Clinical utility of an array comparative genomic hybridization analysis for Williams syndrome.

Yagihashi T, Torii C, Takahashi R, Omori M, Kosaki R, Yoshihashi H, Ihara M, Minagawa-Kawai Y, Yamamoto J, Takahashi T, Kosaki K. Yagihashi T, et al. Congenit Anom (Kyoto). 2014 Nov;54(4):225-7. doi: 10.1111/cga.12065. Congenit Anom (Kyoto). 2014. PMID: 24853877

7

Heterozygous nonsense variant of CHD8 in a patient with forme-fruste Marfan syndrome and intellectual disability.

Yamada M, Yamaguchi Y, Uehara T, Yagihashi T, Kosaki K. Yamada M, et al. Among authors: yagihashi t. Congenit Anom (Kyoto). 2021 Jan;61(1):30-32. doi: 10.1111/cga.12393. Epub 2020 Oct 1. Congenit Anom (Kyoto). 2021. PMID: 32951261 No abstract available.

8

Fork-shaped mandibular incisors as a novel phenotype of LRP5-associated disorder.

Yamada M, Kubota K, Uchida A, Yagihashi T, Kawasaki M, Suzuki H, Uehara T, Takenouchi T, Kurosaka H, Kosaki K. Yamada M, et al. Among authors: yagihashi t. Am J Med Genet A. 2021 May;185(5):1544-1549. doi: 10.1002/ajmg.a.62132. Epub 2021 Feb 22. Am J Med Genet A. 2021. PMID: 33619830

9

Juvenile Muscular Atrophy of a Unilateral Upper Extremity (Hirayama Disease) in a Patient with CHARGE Syndrome.

Yagihashi T, Hatori K, Ishii K, Torii C, Momoshima S, Takahashi T, Kosaki K. Yagihashi T, et al. Mol Syndromol. 2010;1(2):91-94. doi: 10.1159/000315525. Epub 2010 Jun 30. Mol Syndromol. 2010. PMID: 21046013 Free PMC article.

10

Mechanisms underlying early development of pulmonary vascular obstructive disease in Down syndrome: An imbalance in biosynthesis of thromboxane A2 and prostacyclin.

Fukushima H, Kosaki K, Sato R, Yagihashi T, Gatayama R, Kodo K, Hayashi T, Nakazawa M, Tsuchihashi T, Maeda J, Kojima Y, Yamagishi H, Takahashi T. Fukushima H, et al. Among authors: yagihashi t. Am J Med Genet A. 2010 Aug;152A(8):1919-24. doi: 10.1002/ajmg.a.33555. Am J Med Genet A. 2010. PMID: 20583254

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