■ 学術雑誌
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原著
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1.
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Machida O†, Sakamoto H, Shimojima Yamamoto K, Hasegawa Y, Nii S, Okada H, Nishikawa K, Sumimoto S, Nishi E, Okamoto N, Yamamoto T*：
Haploinsufficiency of NKX2-1 is likely to contribute to developmental delay involving 14q13 microdeletions.
Intractable & Rare Disease Research
13
(1)
：36-41
, 2024.2
DOI:10.5582/irdr.2023.01119
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2.
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Yamazaki A†, Kuroda T, Kawasak N, Kato K, Shimojima Yamamoto K, Iwasa T, Kuwahara A, Taniguchi T, Takeshita T, Kita Y, Mikami M, Irahara M, Yamamoto T*：
Preimplantation genetic testing using comprehensive genomic copy number analysis is beneficial for balanced translocation carriers.
Journal of Human Genetics
69
(1)
：41-45
, 2024.1
DOI:10.1038/s10038-023-01202-9
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3.
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Shimojima Yamamoto K†, Tamura T, Okamoto N, Nishi E, Noguchi A, Takahashi I, Sawaishi Y, Shimizu M, Kanno H, Minakuchi Y, Toyoda A, Yamamoto T*：
Identification of small-sized intrachromosomal segments at the ends of INV–DUP–DEL patterns.
Journal of Human Genetics
68
(11)
：751-757
, 2023.6
DOI:10.1038/s10038-023-01181-x
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症例報告
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1.
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Shimomura R†, Yanagishita T, Ishiguro K, Shichiji M, Sato T, Shimojima Yamamoto K, Nagata M, Ishihara Y, Miyashita Y, Ishigaki K, Nagata S, Asano Y, Yamamoto T*：
Rare mosaic variant of GJA1 in a patient with neurodevelopmental disorder.
Human Genome Variation
11
：2
, 2024.1
DOI:10.1038/s41439-023-00262-9
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2.
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Shimojima Yamamoto K†, Yoshimura A, Yamamoto T*：
Biallelic KCTD3 nonsense variant derived from paternal uniparental isodisomy of chromosome 1 in a patient with developmental epileptic encephalopathy and distinctive features.
Human Genome Variation
10
：22
, 2023.8
DOI:10.1038/s41439-023-00250-z
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3.
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Tamura T†, Shimojima Yamamoto K, Imaizumi T, Yamamoto H, Miyamoto Y, Yagasaki H, Morioka I, Kanno H, Yamamoto T*：
Breakpoint analysis for cytogenetically balanced translocation revealed unexpected complex structural abnormalities and suggested the position effect for MEF2C.
American Journal of Medical Genetics Part A
191
(6)
：1632-1638
, 2023.6
DOI:https://doi.org/10.1002/ajmg.a.63182
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ページの先頭へ
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■ 学会発表
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1.
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Taichi Imaizumi T, Shimomura R, Machida O, Yanagishita T, Shimojima Yamamoto K, Nagata M, Ishihara Y, Miyashita Y, Asano Y, Yamamoto T：
Type 2 congenital generalized lipodystrophy by NOTCH2 variant.
Human Genetics Asia 2023,
東京,
2023/10
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2.
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◎Shimomura R, Yanagishita T, Ishiguro K, Shichiji M, Sato T, Shimojima Yamamoto K, Ishigaki K, Nagata S, Nagata M, Asano Y, Toshiyuki T：
A rare mosaic variant of GJA1 in a patient with neurodevelopmental disorder.
Human Genetics Asia 2023,
東京,
2023/10
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3.
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◎Yamamoto T, Shimojima Yamamoto K, Yoshimura A, Kanno H：
Homozygous KCTD3 nonsense variant due to UPD associated with syndromic developmental epileptic encephalopathy.
Human Genetics Asia 2023,
東京,
2023/10
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4.
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◎Machida O, Imaizumi T, Miyamoto Y, Shimomura R, Yanagishita T, Shimojima Yamamoto K, Nagata M, Ishihara Y, Miyashita Y, Asano Y, Yamamoto T：
A novel GNAO1 variant identified in a patient with clinically diagnosed as cerebral palsy.
Human Genetics Asia 2023,
東京,
2023/10
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5.
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◎町田 修, 拜地愛子, 下村里奈, 柳下友映, 永田 智, 下島圭子, 石原康貴, 宮下洋平, 朝野仁裕, 山本俊至：
2番染色体の短腕と長腕の2か所に偶発的に生じた微細欠失による神経発達障害を示した1例.
第46回日本小児遺伝学会,
沖縄,
2023/12
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6.
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◎町田 修, 柳下友映, 下村里奈, 田村豪良, 下島圭子, 岡本伸彦, 永田 智, 山本俊至：
MAGI1を含む3p14微細欠失の2例.
第65回日本小児神経学会学術集会,
岡山,
2023/05
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7.
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◎柳下友映, 下村里奈, 町田 修, 山本圭子, 永田 智, 山本俊至：
Potocki-Lupski症候群家族会の支援.
第65回日本小児神経学会学術集会,
岡山,
2023/05
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5件表示
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全件表示(7件)
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ページの先頭へ
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