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Homoplasmy of a mitochondrial 3697G>A mutation causes Leigh syndrome.
Published in:
Journal of Human Genetics, 2014, v. 59, n. 7, p. 405, doi. 10.1038/jhg.2014.41
By:
- Negishi, Yutaka;
- Hattori, Ayako;
- Takeshita, Eri;
- Sakai, Chika;
- Ando, Naoki;
- Ito, Tetsuya;
- Goto, Yu-ichi;
- Saitoh, Shinji
Publication type:
Article
A case of early‐onset epileptic encephalopathy with a homozygous TBC1D24 variant caused by uniparental isodisomy.
Published in:
American Journal of Medical Genetics. Part A, 2019, v. 179, n. 4, p. 645, doi. 10.1002/ajmg.a.61056
By:
- Nakashima, Mitsuko;
- Negishi, Yutaka;
- Hori, Ikumi;
- Hattori, Ayako;
- Saitoh, Shinji;
- Saitsu, Hirotomo
Publication type:
Article
Novel splicing mutation in the ASXL3 gene causing Bainbridge-Ropers syndrome.
Published in:
American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 7, p. 1863, doi. 10.1002/ajmg.a.37653
By:
- Hori, Ikumi;
- Miya, Fuyuki;
- Ohashi, Kei;
- Negishi, Yutaka;
- Hattori, Ayako;
- Ando, Naoki;
- Okamoto, Nobuhiko;
- Kato, Mitsuhiro;
- Tsunoda, Tatsuhiko;
- Yamasaki, Mami;
- Kanemura, Yonehiro;
- Kosaki, Kenjiro;
- Saitoh, Shinji
Publication type:
Article
A combination of genetic and biochemical analyses for the diagnosis of PI3K-AKTmTOR pathway-associated megalencephaly.
Published in:
BMC Medical Genetics, 2017, v. 18, p. 1, doi. 10.1186/s12881-016-0363-6
By:
- Yutaka Negishi;
- Fuyuki Miya;
- Ayako Hattori;
- Yoshikazu Johmura;
- Motoo Nakagawa;
- Naoki Ando;
- Ikumi Hori;
- Takao Togawa;
- Kohei Aoyama;
- Kei Ohashi;
- Shinobu Fukumura;
- Seiji Mizuno;
- Ayako Umemura;
- Yoko Kishimoto;
- Nobuhiko Okamoto;
- Mitsuhiro Kato;
- Tatsuhiko Tsunoda;
- Mami Yamasaki;
- Yonehiro Kanemura;
- Kenjiro Kosaki
Publication type:
Article
De novo variants in SETD1B cause intellectual disability, autism spectrum disorder, and epilepsy with myoclonic absences.
Published in:
Epilepsia Open, 2019, v. 4, n. 3, p. 476, doi. 10.1002/epi4.12339
By:
- Hiraide, Takuya;
- Hattori, Ayako;
- Ieda, Daisuke;
- Hori, Ikumi;
- Saitoh, Shinji;
- Nakashima, Mitsuko;
- Saitsu, Hirotomo
Publication type:
Article
Cytotoxic edema at onset in West syndrome of unknown etiology: A longitudinal diffusion tensor imaging study.
Published in:
Epilepsia (Series 4), 2018, v. 59, n. 2, p. 440, doi. 10.1111/epi.13988
By:
- Ogawa, Chikako;
- Kidokoro, Hiroyuki;
- Fukasawa, Tatsuya;
- Yamamoto, Hiroyuki;
- Ishihara, Naoko;
- Ito, Yuji;
- Sakaguchi, Yoko;
- Okai, Yu;
- Ohno, Atsuko;
- Nakata, Tomohiko;
- Azuma, Yoshiteru;
- Hattori, Ayako;
- Kubota, Tetsuo;
- Tsuji, Takeshi;
- Hirakawa, Akihiro;
- Kawai, Hisashi;
- Natsume, Jun
Publication type:
Article
Oxidative and Inflammatory Markers Are Higher in Full-Term Newborns Suffering Funisitis, and Higher Oxidative Markers Are Associated with Admission.
Published in:
Children, 2022, v. 9, n. 5, p. 702, doi. 10.3390/children9050702
By:
- Kamei, Michi;
- Hussein, Mohamed Hamed;
- Hattori, Ayako;
- Saleh, Marwa;
- Kakita, Hiroki;
- Abdel-Hamid Daoud, Ghada;
- Ishiguro, Akio;
- Namba, Fumihiko;
- Yazaki, Makoto;
- Goto, Haruo;
- Kato, Ineko;
- Sobajima, Hisanori;
- Kazuhiko, Kabe;
- Moriwaki, Koichi;
- Togari, Hajime
Publication type:
Article
Role of a heterotrimeric G-protein, Gi2, in the corticogenesis: possible involvement in periventricular nodular heterotopia and intellectual disability.
Published in:
Journal of Neurochemistry, 2017, v. 140, n. 1, p. 82, doi. 10.1111/jnc.13878
By:
- Hamada, Nanako;
- Negishi, Yutaka;
- Mizuno, Makoto;
- Miya, Fuyuki;
- Hattori, Ayako;
- Okamoto, Nobuhiko;
- Kato, Mitsuhiro;
- Tsunoda, Tatsuhiko;
- Yamasaki, Mami;
- Kanemura, Yonehiro;
- Kosaki, Kenjiro;
- Tabata, Hidenori;
- Saitoh, Shinji;
- Nagata, Koh‐ichi
Publication type:
Article
De novo 2q36.3q37.1 deletion encompassing TRIP12 and NPPC yields distinct phenotypes.
Published in:
2020
By:
- Kondo, Yuto;
- Aoyama, Kohei;
- Suzuki, Hisato;
- Hattori, Ayako;
- Hori, Ikumi;
- Ito, Koichi;
- Yoshida, Aya;
- Koroki, Mari;
- Ueda, Kentaro;
- Kosaki, Kenjiro;
- Saitoh, Shinji
Publication type:
Case Study
A novel CUL4B splice site variant in a young male exhibiting less pronounced features.
Published in:
Human Genome Variation, 2019, v. 6, n. 1, p. N.PAG, doi. 10.1038/s41439-019-0074-6
By:
- Nakamura, Yuji;
- Okuno, Yusuke;
- Muramatsu, Hideki;
- Kawai, Tomoko;
- Satou, Kazuhito;
- Ieda, Daisuke;
- Hori, Ikumi;
- Ohashi, Kei;
- Negishi, Yutaka;
- Hattori, Ayako;
- Takahashi, Yoshiyuki;
- Kojima, Seiji;
- Saitoh, Shinji
Publication type:
Article
A novel splicing mutation in SLC9A6 in a boy with Christianson syndrome.
Published in:
Human Genome Variation, 2019, v. 6, n. 1, p. N.PAG, doi. 10.1038/s41439-019-0046-x
By:
- Ieda, Daisuke;
- Hori, Ikumi;
- Nakamura, Yuji;
- Ohashi, Kei;
- Negishi, Yutaka;
- Hattori, Ayako;
- Arisaka, Atsuko;
- Hasegawa, Setsuko;
- Saitoh, Shinji
Publication type:
Article
ORIGINAL ARTICLE Effect of death education on self-determination in medical treatment in university students.
Published in:
Geriatrics & Gerontology International, 2003, v. 3, n. 4, p. 200, doi. 10.1111/j.1444-1586.2003.00087.x
By:
- Mogi, Nanaka;
- Masuda, Yuichiro;
- Hattori, Ayako;
- Naito, Michitaka;
- Iguchi, Akihisa;
- Uemura, Kazumasa
Publication type:
Article
Current admission policies of long-term care facilities in Japan.
Published in:
Geriatrics & Gerontology International, 2003, v. 3, n. 2, p. 73, doi. 10.1046/j.1444-1586.2003.00062.x
By:
- Hirakawa, Yoshihisa;
- Masuda, Yuichiro;
- Uemura, Kazumasa;
- Onishi, Joji;
- Hattori, Ayako;
- Kuzuya, Masafumi;
- Iguchi, Akihisa
Publication type:
Article
Assessment of brain atrophy in elderly subjects with diabetes mellitus by computed tomography.
Published in:
Geriatrics & Gerontology International, 2001, v. 1, n. 1/2, p. 33, doi. 10.1046/j.1444-1586.2001.00013.x
By:
- Ushida,, Chika;
- Umegaki,, Hiroyuki;
- Hattori,, Ayako;
- Mogi,, Nanaka;
- Aoki, Shigetaka;
- Iguchi, Akihisa
Publication type:
Article
Semi-automatic volumetry of cortical tubers in tuberous sclerosis complex.
Published in:
Japanese Journal of Radiology, 2013, v. 31, n. 4, p. 253, doi. 10.1007/s11604-012-0178-0
By:
- Nakata, Yasuhiro;
- Sato, Noriko;
- Hattori, Ayako;
- Ito, Kimiteru;
- Kimura, Yukio;
- Kamiya, Kouhei;
- Shigemoto, Yoko;
- Nakagawa, Eiji;
- Sasaki, Masayuki;
- Ohtomo, Kuni
Publication type:
Article
Cardiac Vagal Activation by Adrenocorticotropic Hormone Treatment in Infants with West Syndrome.
Published in:
Tohoku Journal of Experimental Medicine, 2007, v. 211, n. 2, p. 133, doi. 10.1620/tjem.211.133
By:
- Hattori, Ayako;
- Hayano, Junichiro;
- Fujimoto, Shini;
- Ando, Naoki;
- Mizuno, Kumiko;
- Kamei, Michi;
- Kobayashi, Satoru;
- Ishikawa, Tatsuya;
- Togari, Hajime
Publication type:
Article
Periventricular Leukomalacia with Late-Onset Circulatory Dysfunction of Premature Infants: Correlation with Severity of Magnetic Resonance Imaging Findings and Neurological Outcomes.
Published in:
Tohoku Journal of Experimental Medicine, 2006, v. 210, n. 4, p. 333, doi. 10.1620/tjem.210.333
By:
- KOBAYASHI, SATORU;
- FUJIMOTO, SHINJI;
- FUKUDA, SUMIO;
- HATTORI, AYAKO;
- IWAKI, TOSHIMITSU;
- KOYAMA, NORIHISA;
- TANAKA, TAIHEI;
- KOKUBO, MINORU;
- OKANISHI, TOHRU;
- TOGARI, HAJIME
Publication type:
Article
Standardization of Plasma Brain Natriuretic Peptide Concentrations in Older Japanese—Relationship to Latent Renal Dysfunction and Ischemic Heart Disease.
Published in:
Journal of the American Geriatrics Society, 2002, v. 50, n. 9, p. 1504, doi. 10.1046/j.1532-5415.2002.50405.x
By:
- Nomura, Hideki;
- Hayashi, Toshio;
- Esaki, Teiji;
- Kanda, Shigeru;
- Kano, Hatsuyo;
- Hattori, Ayako;
- Iguchi, Akihisa
Publication type:
Article

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