Publications by authors named "Daisuke Ieda"

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A nationwide survey of Vici syndrome in Japan.
Ikumi Hori, Toshihiko Iwaki, Emi Sato, Daisuke Ieda, Yutaka Negishi

Brain Dev· November 2024

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Genotype-phenotype correlation over time in Angelman syndrome: Researching 134 patients.
Masanori Fujimoto, Yuji Nakamura, Kana Hosoki, Toshihiko Iwaki, Emi Sato, Daisuke Ieda

HGG Adv· October 2024

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Angelman syndrome with mosaic paternal uniparental disomy suggestive of mitotic nondisjunction.
Masanori Fujimoto, Yuji Nakamura, Toshihiko Iwaki, Emi Sato, Daisuke Ieda

J Hum Genet· February 2023

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Correction: Angelman syndrome with mosaic paternal uniparental disomy suggestive of mitotic nondisjunction.
Masanori Fujimoto, Yuji Nakamura, Toshihiko Iwaki, Emi Sato, Daisuke Ieda

J Hum Genet· February 2023

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Long-term follow-up of a patient with autosomal dominant lower extremity-predominant spinal muscular atrophy-2 due to a BICD2 variant.
Kosuke Yamamoto, Kei Ohashi, Masanori Fujimoto, Daisuke Ieda, Yuji Nakamura, Kuniko Ieda

Brain Dev· September 2022

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Hemorrhagic shock and encephalopathy syndrome in a patient with a de novo heterozygous variant in KIF1A.
Kouji Isobe, Daisuke Ieda, Fuyuki Miya, Rieko Miyachi, Shiomi Otsuji

Brain Dev· March 2022

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Peripheral nerves are involved in hypomyelinating leukodystrophy-3 caused by a homozygous AIMP1 variant.
Ikumi Hori, Daisuke Ieda, Shogo Ito, Seimi Ebe, Yuji Nakamura

Brain Dev· April 2021

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Two mouse models carrying truncating mutations in Magel2 show distinct phenotypes.
Daisuke Ieda, Yutaka Negishi, Tomomi Miyamoto, Yoshikazu Johmura, Natsuko Kumamoto

PLoS One· October 2020

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Schaaf-Yang syndrome shows a Prader-Willi syndrome-like phenotype during infancy.
Yutaka Negishi, Daisuke Ieda, Ikumi Hori, Yasuyuki Nozaki, Takanori Yamagata

Orphanet J Rare Dis· December 2019

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De novo variants in cause intellectual disability, autism spectrum disorder, and epilepsy with myoclonic absences.
Takuya Hiraide, Ayako Hattori, Daisuke Ieda, Ikumi Hori, Shinji Saitoh

Epilepsia Open· September 2019

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A novel splice site variant in a young male exhibiting less pronounced features.
Yuji Nakamura, Yusuke Okuno, Hideki Muramatsu, Tomoko Kawai, Kazuhito Satou, Daisuke Ieda

Hum Genome Var· September 2019

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Author Correction: A missense mutation in the HECT domain of NEDD4L identified in a girl with periventricular nodular heterotopia, polymicrogyria, and cleft palate.
Koji Kato, Fuyuki Miya, Ikumi Hori, Daisuke Ieda, Kei Ohashi

J Hum Genet· July 2019

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A novel splicing mutation in in a boy with Christianson syndrome.
Daisuke Ieda, Ikumi Hori, Yuji Nakamura, Kei Ohashi, Yutaka Negishi

Hum Genome Var· March 2019

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Distinctive facies, macrocephaly, and developmental delay are signs of a PTEN mutation in childhood.
Kohji Kato, Seiji Mizuno, Mie Inaba, Shinobu Fukumura, Naoko Kurahashi, Daisuke Ieda

Brain Dev· September 2018

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A novel truncating mutation in FLNA causes periventricular nodular heterotopia, Ehlers-Danlos-like collagenopathy and macrothrombocytopenia.
Daisuke Ieda, Ikumi Hori, Yuji Nakamura, Hironori Ohshita, Yutaka Negishi

Brain Dev· June 2018

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A de novo p.Arg756Cys mutation in ATP1A3 causes a distinct phenotype with prolonged weakness and encephalopathy triggered by fever.
Yuji Nakamura, Ayako Hattori, Mitsuko Nakashima, Daisuke Ieda, Ikumi Hori

Brain Dev· March 2018

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Biallelic mutations in SZT2 cause a discernible clinical entity with epilepsy, developmental delay, macrocephaly and a dysmorphic corpus callosum.
Yuji Nakamura, Yasuko Togawa, Yusuke Okuno, Hideki Muramatsu, Kazuhiko Nakabayashi, Daisuke Ieda

Brain Dev· February 2018

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deletion syndrome: clinical features and epigenetic delineation.
Ikumi Hori, Rie Kawamura, Kazuhiko Nakabayashi, Hidetaka Watanabe, Ken Higashimoto, Daisuke Ieda

J Med Genet· December 2017

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A novel missense mutation in the HECT domain of NEDD4L identified in a girl with periventricular nodular heterotopia, polymicrogyria and cleft palate.
Koji Kato, Fuyuki Miya, Ikumi Hori, Daisuke Ieda, Kei Ohashi

J Hum Genet· September 2017

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