Tsurusaki Y - Search Results

1

Novel SYNGAP1 variant in a patient with intellectual disability and distinctive dysmorphisms.

Kimura Y, Akahira-Azuma M, Harada N, Enomoto Y, Tsurusaki Y, Kurosawa K. Kimura Y, et al. Among authors: tsurusaki y. Congenit Anom (Kyoto). 2018 Nov;58(6):188-190. doi: 10.1111/cga.12273. Epub 2018 Feb 13. Congenit Anom (Kyoto). 2018. PMID: 29381230 Review.

2

Early infantile epileptic encephalopathy associated with the disrupted gene encoding Slit-Robo Rho GTPase activating protein 2 (SRGAP2).

Saitsu H, Osaka H, Sugiyama S, Kurosawa K, Mizuguchi T, Nishiyama K, Nishimura A, Tsurusaki Y, Doi H, Miyake N, Harada N, Kato M, Matsumoto N. Saitsu H, et al. Among authors: tsurusaki y. Am J Med Genet A. 2012 Jan;158A(1):199-205. doi: 10.1002/ajmg.a.34363. Epub 2011 Nov 21. Am J Med Genet A. 2012. PMID: 22106086

3

A novel UBE2A mutation causes X-linked intellectual disability type Nascimento.

Tsurusaki Y, Ohashi I, Enomoto Y, Naruto T, Mitsui J, Aida N, Kurosawa K. Tsurusaki Y, et al. Hum Genome Var. 2017 Jun 8;4:17019. doi: 10.1038/hgv.2017.19. eCollection 2017. Hum Genome Var. 2017. PMID: 28611923 Free PMC article.

4

Coffin-Siris syndrome and cardiac anomaly with a novel SOX11 mutation.

Okamoto N, Ehara E, Tsurusaki Y, Miyake N, Matsumoto N. Okamoto N, et al. Among authors: tsurusaki y. Congenit Anom (Kyoto). 2018 May;58(3):105-107. doi: 10.1111/cga.12242. Epub 2017 Oct 6. Congenit Anom (Kyoto). 2018. PMID: 28787104

5

Novel AMER1 frameshift mutation in a girl with osteopathia striata with cranial sclerosis.

Enomoto Y, Tsurusaki Y, Harada N, Aida N, Kurosawa K. Enomoto Y, et al. Among authors: tsurusaki y. Congenit Anom (Kyoto). 2018 Jul;58(4):145-146. doi: 10.1111/cga.12258. Epub 2017 Nov 16. Congenit Anom (Kyoto). 2018. PMID: 28990699 No abstract available.

6

Refining the clinical phenotype of Okur-Chung neurodevelopmental syndrome.

Akahira-Azuma M, Tsurusaki Y, Enomoto Y, Mitsui J, Kurosawa K. Akahira-Azuma M, et al. Among authors: tsurusaki y. Hum Genome Var. 2018 Mar 29;5:18011. doi: 10.1038/hgv.2018.11. eCollection 2018. Hum Genome Var. 2018. PMID: 29619237 Free PMC article.

7

Novel COL4A1 mutation in a fetus with early prenatal onset of schizencephaly.

Sato Y, Shibasaki J, Aida N, Hiiragi K, Kimura Y, Akahira-Azuma M, Enomoto Y, Tsurusaki Y, Kurosawa K. Sato Y, et al. Among authors: tsurusaki y. Hum Genome Var. 2018 Apr 24;5:4. doi: 10.1038/s41439-018-0005-y. eCollection 2018. Hum Genome Var. 2018. PMID: 29760938 Free PMC article.

8

Biallelic mutations of EGFR in a compound heterozygous state cause ectodermal dysplasia with severe skin defects and gastrointestinal dysfunction.

Hayashi S, Yokoi T, Hatano C, Enomoto Y, Tsurusaki Y, Naruto T, Kobayashi M, Ida H, Kurosawa K. Hayashi S, et al. Among authors: tsurusaki y. Hum Genome Var. 2018 Jun 8;5:11. doi: 10.1038/s41439-018-0011-0. eCollection 2018. Hum Genome Var. 2018. PMID: 29899996 Free PMC article.

9

Nonsyndromic intellectual disability with novel heterozygous SCN2A mutation and epilepsy.

Yokoi T, Enomoto Y, Tsurusaki Y, Naruto T, Kurosawa K. Yokoi T, et al. Among authors: tsurusaki y. Hum Genome Var. 2018 Jul 20;5:20. doi: 10.1038/s41439-018-0019-5. eCollection 2018. Hum Genome Var. 2018. PMID: 30062040 Free PMC article.

10

CNV analysis using whole exome sequencing identified biallelic CNVs of VPS13B in siblings with intellectual disability.

Enomoto Y, Tsurusaki Y, Yokoi T, Abe-Hatano C, Ida K, Naruto T, Mitsui J, Tsuji S, Morishita S, Kurosawa K. Enomoto Y, et al. Among authors: tsurusaki y. Eur J Med Genet. 2020 Jan;63(1):103610. doi: 10.1016/j.ejmg.2018.12.015. Epub 2018 Dec 30. Eur J Med Genet. 2020. PMID: 30602132

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