Takenouchi T - Search Results

1

Oculofaciocardiodental syndrome caused by a novel BCOR variant.

Yamashita T, Hotta J, Jogu Y, Sakai E, Ono C, Bamba H, Suzuki H, Yamada M, Takenouchi T, Kosaki K, Yorifuji T, Hamazaki T, Seto T. Yamashita T, et al. Among authors: takenouchi t. Hum Genome Var. 2023 Jun 12;10(1):18. doi: 10.1038/s41439-023-00244-x. Hum Genome Var. 2023. PMID: 37308473 Free PMC article.

2

Reversible diffuse white matter lesion in Alagille syndrome.

Takenouchi T, Shimozato S, Kosaki K, Momoshima S, Takahashi T. Takenouchi T, et al. Pediatr Neurol. 2011 Jul;45(1):54-6. doi: 10.1016/j.pediatrneurol.2011.02.009. Pediatr Neurol. 2011. PMID: 21723462

3

Hydrocephalus with Hirschsprung disease: severe end of X-linked hydrocephalus spectrum.

Takenouchi T, Nakazawa M, Kanemura Y, Shimozato S, Yamasaki M, Takahashi T, Kosaki K. Takenouchi T, et al. Am J Med Genet A. 2012 Apr;158A(4):812-5. doi: 10.1002/ajmg.a.35245. Epub 2012 Feb 21. Am J Med Genet A. 2012. PMID: 22354677

4

Congenital corneal staphyloma as a complication of Kabuki syndrome.

Tanaka R, Takenouchi T, Uchida K, Sato T, Fukushima H, Yoshihashi H, Takahashi T, Tsubota K, Kosaki K. Tanaka R, et al. Among authors: takenouchi t. Am J Med Genet A. 2012 Aug;158A(8):2000-2. doi: 10.1002/ajmg.a.35453. Epub 2012 Jul 11. Am J Med Genet A. 2012. PMID: 22786791

5

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. 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.

6

Microduplication of Xq24 and Hartsfield syndrome with holoprosencephaly, ectrodactyly, and clefting.

Takenouchi T, Okuno H, Kosaki R, Ariyasu D, Torii C, Momoshima S, Harada N, Yoshihashi H, Takahashi T, Awazu M, Kosaki K. Takenouchi T, et al. Am J Med Genet A. 2012 Oct;158A(10):2537-41. doi: 10.1002/ajmg.a.35465. Epub 2012 Aug 10. Am J Med Genet A. 2012. PMID: 22887648

7

12q14 microdeletion syndrome and short stature with or without relative macrocephaly.

Takenouchi T, Enomoto K, Nishida T, Torii C, Okazaki T, Takahashi T, Kosaki K. Takenouchi T, et al. Am J Med Genet A. 2012 Oct;158A(10):2542-4. doi: 10.1002/ajmg.a.35527. Epub 2012 Aug 10. Am J Med Genet A. 2012. PMID: 22887875

8

Catastrophic autonomic crisis with cardiovascular collapse in spinal muscular atrophy with respiratory distress type 1.

Nomura T, Takenouchi T, Fukushima H, Shimozato S, Kosaki K, Takahashi T. Nomura T, et al. Among authors: takenouchi t. J Child Neurol. 2013 Jul;28(7):949-51. doi: 10.1177/0883073812453321. Epub 2012 Aug 16. J Child Neurol. 2013. PMID: 22899794

9

Concurrent deletion of BMP4 and OTX2 genes, two master genes in ophthalmogenesis.

Takenouchi T, Nishina S, Kosaki R, Torii C, Furukawa R, Takahashi T, Kosaki K. Takenouchi T, et al. Eur J Med Genet. 2013 Jan;56(1):50-3. doi: 10.1016/j.ejmg.2012.10.007. Epub 2012 Oct 26. Eur J Med Genet. 2013. PMID: 23103883

10

Persistent hypertension despite successful dilation of a stenotic renal artery in a boy with neurofibromatosis type 1.

Ueda K, Awazu M, Konishi Y, Takenouchi T, Shimozato S, Kosaki K, Takahashi T. Ueda K, et al. Among authors: takenouchi t. Am J Med Genet A. 2013 May;161A(5):1154-7. doi: 10.1002/ajmg.a.35829. Epub 2013 Apr 5. Am J Med Genet A. 2013. PMID: 23564656

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