Saito T - Search Results

1

Familial total anomalous pulmonary venous return with 15q11.2 (BP1-BP2) microdeletion.

Kuroda Y, Ohashi I, Naruto T, Ida K, Enomoto Y, Saito T, Nagai JI, Yanagi S, Ueda H, Kurosawa K. Kuroda Y, et al. Among authors: saito t. J Hum Genet. 2018 Nov;63(11):1185-1188. doi: 10.1038/s10038-018-0499-7. Epub 2018 Aug 14. J Hum Genet. 2018. PMID: 30108319

2

Pure duplication of 19p13.3.

Ishikawa A, Enomoto K, Tominaga M, Saito T, Nagai J, Furuya N, Ueno K, Ueda H, Masuno M, Kurosawa K. Ishikawa A, et al. Among authors: saito t. Am J Med Genet A. 2013 Sep;161A(9):2300-4. doi: 10.1002/ajmg.a.36041. Epub 2013 Jul 29. Am J Med Genet A. 2013. PMID: 23897601

3

De novo duplication of 17p13.1-p13.2 in a patient with intellectual disability and obesity.

Kuroda Y, Ohashi I, Tominaga M, Saito T, Nagai J, Ida K, Naruto T, Masuno M, Kurosawa K. Kuroda Y, et al. Among authors: saito t. Am J Med Genet A. 2014 Jun;164A(6):1550-4. doi: 10.1002/ajmg.a.36477. Epub 2014 Mar 25. Am J Med Genet A. 2014. PMID: 24668897

4

Refinement of the deletion in 8q22.2-q22.3: the minimum deletion size at 8q22.3 related to intellectual disability and epilepsy.

Kuroda Y, Ohashi I, Saito T, Nagai J, Ida K, Naruto T, Iai M, Kurosawa K. Kuroda Y, et al. Among authors: saito t. Am J Med Genet A. 2014 Aug;164A(8):2104-8. doi: 10.1002/ajmg.a.36604. Epub 2014 May 6. Am J Med Genet A. 2014. PMID: 24801133

5

Deletion of UBE3A in brothers with Angelman syndrome at the breakpoint with an inversion at 15q11.2.

Kuroda Y, Ohashi I, Saito T, Nagai J, Ida K, Naruto T, Wada T, Kurosawa K. Kuroda Y, et al. Among authors: saito t. Am J Med Genet A. 2014 Nov;164A(11):2873-8. doi: 10.1002/ajmg.a.36704. Epub 2014 Aug 6. Am J Med Genet A. 2014. PMID: 25099823

6

Microdeletion of 19p13.3 in a girl with Peutz-Jeghers syndrome, intellectual disability, hypotonia, and distinctive features.

Kuroda Y, Saito T, Nagai J, Ida K, Naruto T, Masuno M, Kurosawa K. Kuroda Y, et al. Among authors: saito t. Am J Med Genet A. 2015 Feb;167A(2):389-93. doi: 10.1002/ajmg.a.36813. Epub 2014 Dec 8. Am J Med Genet A. 2015. PMID: 25487640

7

Delineation of the KIAA2022 mutation phenotype: two patients with X-linked intellectual disability and distinctive features.

Kuroda Y, Ohashi I, Naruto T, Ida K, Enomoto Y, Saito T, Nagai J, Wada T, Kurosawa K. Kuroda Y, et al. Among authors: saito t. Am J Med Genet A. 2015 Jun;167(6):1349-53. doi: 10.1002/ajmg.a.37002. Epub 2015 Apr 21. Am J Med Genet A. 2015. PMID: 25900396

8

Evaluation of a patient with classical Ehlers-Danlos syndrome due to a 9q34 duplication affecting COL5A1.

Kuroda Y, Ohashi I, Naruto T, Ida K, Enomoto Y, Saito T, Nagai JI, Kurosawa K. Kuroda Y, et al. Among authors: saito t. Congenit Anom (Kyoto). 2018 Nov;58(6):191-193. doi: 10.1111/cga.12277. Epub 2018 Mar 25. Congenit Anom (Kyoto). 2018. PMID: 29520887

9

17q21.32-q22 Deletion in a girl with osteogenesis imperfecta, tricho-dento-osseous syndrome, and intellectual disability.

Yokoi T, Saito T, Nagai JI, Kurosawa K. Yokoi T, et al. Among authors: saito t. Congenit Anom (Kyoto). 2019 Mar;59(2):51-52. doi: 10.1111/cga.12292. Epub 2018 Jul 4. Congenit Anom (Kyoto). 2019. PMID: 29896840 No abstract available.

10

Developmental delay and dysmorphic features in a girl with a de novo 5.4 Mb deletion of 13q12.11-q12.13.

Tominaga M, Saito T, Masuno M, Umeda Y, Kurosawa K. Tominaga M, et al. Among authors: saito t. Congenit Anom (Kyoto). 2020 Mar;60(2):73-74. doi: 10.1111/cga.12346. Epub 2019 Jun 27. Congenit Anom (Kyoto). 2020. PMID: 31206199 No abstract available.

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