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139 results for Okamoto,+Nobuhiko

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Kabuki syndrome: international consensus diagnostic criteria
Author / Creator:Adam, Margaret P ; Banka, Siddharth ; Bjornsson, Hans T ; Bodamer, Olaf ; Chudley, Albert E ; Harris, Jaqueline ; Kawame, Hiroshi ; Lanpher, Brendan C ; Lindsley, Andrew W ; Merla, Giuseppe ; Miyake, Noriko ; Okamoto, Nobuhiko ; Stumpel, Constanze T ; Niikawa, Norio
Publisher:England: BMJ Publishing Group LTD
Journal title:Journal of medical genetics, 2019-02, Vol.56 (2), p.89-95
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Macrothrombocytopenia of Takenouchi-Kosaki syndrome is ameliorated by CDC42 specific- and lipidation inhibitors in MEG-01 cells
Author / Creator:Daimon, Etsuko ; Shibukawa, Yukinao ; Thanasegaran, Suganya ; Yamazaki, Natsuko ; Okamoto, Nobuhiko
Publisher:London: Nature Publishing Group UK
Journal title:Scientific reports, 2021-09, Vol.11 (1), p.17990-17990, Article 17990
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Bardet–Biedl syndrome and related disorders in Japan
Author / Creator:Hirano, Makito ; Satake, Wataru ; Moriyama, Nobuko ; Saida, Ken ; Okamoto, Nobuhiko ; Cha, Pei-Chieng ; Suzuki, Yutaka ; Kusunoki, Susumu ; Toda, Tatsushi
Publisher:England: Nature Publishing Group
Journal title:Journal of human genetics, 2020-10, Vol.65 (10), p.847-853
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Two families with TET3-related disorder showing neurodevelopmental delay with craniofacial dysmorphisms
Author / Creator:Seyama, Rie ; Tsuchida, Naomi ; Okada, Yasuyuki ; Sakata, Sonoko ; Hamada, Keisuke ; Azuma, Yoshiteru ; Hamanaka, Kohei ; Fujita, Atsushi ; Koshimizu, Eriko ; Miyatake, Satoko ; Mizuguchi, Takeshi ; Makino, Shintaro ; Itakura, Atsuo ; Okada, Satoshi ; Okamoto, Nobuhiko ; Ogata, Kazuhiro ; Uchiyama, Yuri ; Matsumoto, Naomichi
Publisher:England: Nature Publishing Group
Journal title:Journal of human genetics, 2022-03, Vol.67 (3), p.157-164
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Mutations affecting components of the SWI/SNF complex cause Coffin-Siris syndrome
Author / Creator:Tsurusaki, Yoshinori ; Okamoto, Nobuhiko ; Ohashi, Hirofumi ; Kosho, Tomoki ; Imai, Yoko ; Hibi-Ko, Yumiko ; Kaname, Tadashi ; Naritomi, Kenji ; Kawame, Hiroshi ; Wakui, Keiko ; Fukushima, Yoshimitsu ; Homma, Tomomi ; Kato, Mitsuhiro ; Hiraki, Yoko ; Yamagata, Takanori ; Yano, Shoji ; Mizuno, Seiji ; Sakazume, Satoru ; Ishii, Takuma ; Nagai, Toshiro ; Shiina, Masaaki ; Ogata, Kazuhiro ; Ohta, Tohru ; Niikawa, Norio ; Miyatake, Satoko ; Okada, Ippei ; Mizuguchi, Takeshi ; Doi, Hiroshi ; Saitsu, Hirotomo ; Miyake, Noriko ; Matsumoto, Naomichi
Publisher:New York: Nature Publishing Group US
Journal title:Nature genetics, 2012-04, Vol.44 (4), p.376-378
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Biallelic null variants in ZNF142 cause global developmental delay with familial epilepsy and dysmorphic features
Author / Creator:Kameyama, Shinichi ; Mizuguchi, Takeshi ; Fukuda, Hiromi ; Moey, Lip Hen ; Keng, Wee Teik ; Okamoto, Nobuhiko ; Tsuchida, Naomi ; Uchiyama, Yuri ; Koshimizu, Eriko ; Hamanaka, Kohei ; Fujita, Atsushi ; Miyatake, Satoko ; Matsumoto, Naomichi
Publisher:England: Nature Publishing Group
Journal title:Journal of human genetics, 2022-03, Vol.67 (3), p.169-173
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Clinical and Molecular Features of Patients With Congenital Disorders of Glycosylation in Japan
Author / Creator:Okamoto, Nobuhiko ; Kadoya, Machiko ; Wada, Yoshinao
Publisher:Hoboken, USA: John Wiley & Sons, Inc
Journal title:JIMD reports, 2025-05, Vol.66 (3), p.e70011-n/a
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Novel CLTC variants cause new brain and kidney phenotypes
Author / Creator:Itai, Toshiyuki ; Miyatake, Satoko ; Tsuchida, Naomi ; Saida, Ken ; Narahara, Sho ; Tsuyusaki, Yu ; Castro, Matheus Augusto Araujo ; Kim, Chong Ae ; Okamoto, Nobuhiko ; Uchiyama, Yuri ; Koshimizu, Eriko ; Hamanaka, Kohei ; Fujita, Atsushi ; Mizuguchi, Takeshi ; Matsumoto, Naomichi
Publisher:England: Nature Publishing Group
Journal title:Journal of human genetics, 2022-01, Vol.67 (1), p.1-7
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Time required for indocyanine green fluorescence emission for evaluating bowel perfusion in left-sided colon and rectal cancer surgery
Author / Creator:Hagiwara, Chie ; Wakabayashi, Taiga ; Tsutsui, Atsuko ; Sakamoto, Junichi ; Fujita, Shohei ; Fujiyama, Yoshiki ; Okamoto, Nobuhiko ; Omura, Kenji ; Naitoh, Takeshi ; Wakabayashi, Go
Publisher:New York: Springer US
Journal title:Surgical endoscopy, 2023-10, Vol.37 (10), p.7876-7883
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ANKRD11 variants cause variable clinical features associated with KBG syndrome and Coffin–Siris-like syndrome
Author / Creator:Miyatake, Satoko ; Okamoto, Nobuhiko ; Stark, Zornitza ; Nabetani, Makoto ; Tsurusaki, Yoshinori ; Nakashima, Mitsuko ; Miyake, Noriko ; Mizuguchi, Takeshi ; Ohtake, Akira ; Saitsu, Hirotomo ; Matsumoto, Naomichi
Publisher:England: Nature Publishing Group
Journal title:Journal of human genetics, 2017-08, Vol.62 (8), p.741-746
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Identification of small-sized intrachromosomal segments at the ends of INV–DUP–DEL patterns
Author / Creator:Shimojima Yamamoto, Keiko ; Tamura, Takeaki ; Okamoto, Nobuhiko ; Nishi, Eriko ; Noguchi, Atsuko ; Takahashi, Ikuko ; Sawaishi, Yukio ; Shimizu, Masaki ; Kanno, Hitoshi ; Minakuchi, Yohei ; Toyoda, Atsushi ; Yamamoto, Toshiyuki
Publisher:England: Nature Publishing Group
Journal title:Journal of human genetics, 2023-11, Vol.68 (11), p.751-757
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Pathogenetic basis of Takenouchi-Kosaki syndrome: Electron microscopy study using platelets in patients and functional studies in a Caenorhabditis elegans model
Author / Creator:Uehara, Tomoko ; Suzuki, Hidenori ; Okamoto, Nobuhiko ; Kondoh, Tatsuro ; Ahmad, Ayesha ; O’Connor, Bridget C. ; Yoshina, Sawako ; Mitani, Shohei ; Kosaki, Kenjiro ; Takenouchi, Toshiki
Publisher:London: Nature Publishing Group UK
Journal title:Scientific reports, 2019-03, Vol.9 (1), p.4418-4418, Article 4418
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Missense and truncated variants in ERF in individuals with a Noonan-like phenotype without craniosynostosis
Author / Creator:Goto, Yusuke ; Niihori, Tetsuya ; Mizuno, Seiji ; Okamoto, Nobuhiko ; Ogata, Tsutomu ; Kurosawa, Kenji ; Ohashi, Hirofumi ; Matsubara, Yoichi ; Abe, Taiki ; Kikuchi, Atsuo ; Aoki, Yoko
Publisher:London: Nature Publishing Group UK
Journal title:Scientific reports, 2025-04, Vol.15 (1), p.15179-15, Article 15179
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A novel homozygous CHMP1A variant arising from segmental uniparental disomy causes pontocerebellar hypoplasia type 8
Author / Creator:Sakamoto, Masamune ; Shiiki, Toshihide ; Matsui, Shuji ; Okamoto, Nobuhiko ; Koshimizu, Eriko ; Tsuchida, Naomi ; Uchiyama, Yuri ; Hamanaka, Kohei ; Fujita, Atsushi ; Miyatake, Satoko ; Misawa, Kazuharu ; Mizuguchi, Takeshi ; Matsumoto, Naomichi
Publisher:England: Nature Publishing Group
Journal title:Journal of human genetics, 2023-04, Vol.68 (4), p.247-253
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Utility of tissue-specific gene expression scores for gene prioritization in Mendelian diseases
Author / Creator:Kato, Daiki ; Mitsuhashi, Satomi ; Miya, Fuyuki ; Saitoh, Shinji ; Okamoto, Nobuhiko ; Tsunoda, Tatsuhiko ; Kochi, Yuta
Publisher:London: Nature Publishing Group
Journal title:Journal of human genetics, 2022-12, Vol.67 (12), p.739-742
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Comprehensive investigation of CASK mutations and other genetic etiologies in 41 patients with intellectual disability and microcephaly with pontine and cerebellar hypoplasia (MICPCH)
Author / Creator:Hayashi, Shin ; Uehara, Daniela Tiaki ; Tanimoto, Kousuke ; Mizuno, Seiji ; Chinen, Yasutsugu ; Fukumura, Shinobu ; Takanashi, Jun-ichi ; Osaka, Hitoshi ; Okamoto, Nobuhiko ; Inazawa, Johji
Publisher:United States: Public Library of Science
Journal title:PloS one, 2017-08, Vol.12 (8), p.e0181791-e0181791
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Distal arthrogryposis in a girl arising from a novel TNNI2 variant inherited from paternal somatic mosaicism
Author / Creator:Seyama, Rie ; Uchiyama, Yuri ; Kaneshi, Yosuke ; Hamanaka, Kohei ; Fujita, Atsushi ; Tsuchida, Naomi ; Koshimizu, Eriko ; Misawa, Kazuharu ; Miyatake, Satoko ; Mizuguchi, Takeshi ; Makino, Shintaro ; Itakura, Atsuo ; Okamoto, Nobuhiko ; Matsumoto, Naomichi
Publisher:England: Nature Publishing Group
Journal title:Journal of human genetics, 2023-05, Vol.68 (5), p.363-367
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Biallelic structural variants in three patients with ERCC8-related Cockayne syndrome and a potential pitfall of copy number variation analysis
Author / Creator:Watanabe, Daisuke ; Okamoto, Nobuhiko ; Kobayashi, Yuichi ; Suzuki, Hisato ; Kato, Mitsuhiro ; Saitoh, Shinji ; Kanemura, Yonehiro ; Takenouchi, Toshiki ; Yamada, Mamiko ; Nakato, Daisuke ; Sato, Masayuki ; Tsunoda, Tatsuhiko ; Kosaki, Kenjiro ; Miya, Fuyuki
Publisher:London: Nature Publishing Group UK
Journal title:Scientific reports, 2024-08, Vol.14 (1), p.19741-10, Article 19741
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Clinical delineation, sex differences, and genotype–phenotype correlation in pathogenic KDM6A variants causing X-linked Kabuki syndrome type 2
Author / Creator:Faundes, Víctor ; Goh, Stephanie ; Akilapa, Rhoda ; Bezuidenhout, Heidre ; Bjornsson, Hans T. ; Bradley, Lisa ; Brady, Angela F. ; Brischoux-Boucher, Elise ; Brunner, Han ; Bulk, Saskia ; Canham, Natalie ; Cody, Declan ; Dentici, Maria Lisa ; Digilio, Maria Cristina ; Elmslie, Frances ; Fry, Andrew E. ; Gill, Harinder ; Hurst, Jane ; Johnson, Diana ; Julia, Sophie ; Lachlan, Katherine ; Lebel, Robert Roger ; Byler, Melissa ; Gershon, Eric ; Lemire, Edmond ; Gnazzo, Maria ; Lepri, Francesca Romana ; Marchese, Antonia ; McEntagart, Meriel ; McGaughran, Julie ; Mizuno, Seiji ; Okamoto, Nobuhiko ; Rieubland, Claudine ; Rodgers, Jonathan ; Sasaki, Erina ; Scalais, Emmanuel ; Scurr, Ingrid ; Suri, Mohnish ; van der Burgt, Ineke ; Matsumoto, Naomichi ; Miyake, Noriko ; Benoit, Valérie ; Lederer, Damien ; Banka, Siddharth
Publisher:New York: Elsevier Inc
Journal title:Genetics in medicine, 2021-07, Vol.23 (7), p.1202-1210
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Four pedigrees with aminoacyl-tRNA synthetase abnormalities
Author / Creator:Okamoto, Nobuhiko ; Miya, Fuyuki ; Tsunoda, Tatsuhiko ; Kanemura, Yonehiro ; Saitoh, Shinji ; Kato, Mitsuhiro ; Yanagi, Kumiko ; Kaname, Tadashi ; Kosaki, Kenjiro
Publisher:Cham: Springer International Publishing
Journal title:Neurological sciences, 2022-04, Vol.43 (4), p.2765-2774
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Showing 1 to 20 of 139 results

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Kabuki syndrome: international consensus diagnostic criteria

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Macrothrombocytopenia of Takenouchi-Kosaki syndrome is ameliorated by CDC42 specific- and lipidation inhibitors in MEG-01 cells

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Bardet–Biedl syndrome and related disorders in Japan

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Two families with TET3-related disorder showing neurodevelopmental delay with craniofacial dysmorphisms

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Mutations affecting components of the SWI/SNF complex cause Coffin-Siris syndrome

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Biallelic null variants in ZNF142 cause global developmental delay with familial epilepsy and dysmorphic features

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Clinical and Molecular Features of Patients With Congenital Disorders of Glycosylation in Japan

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Novel CLTC variants cause new brain and kidney phenotypes

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Time required for indocyanine green fluorescence emission for evaluating bowel perfusion in left-sided colon and rectal cancer surgery

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ANKRD11 variants cause variable clinical features associated with KBG syndrome and Coffin–Siris-like syndrome

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Identification of small-sized intrachromosomal segments at the ends of INV–DUP–DEL patterns

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Pathogenetic basis of Takenouchi-Kosaki syndrome: Electron microscopy study using platelets in patients and functional studies in a Caenorhabditis elegans model

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Missense and truncated variants in ERF in individuals with a Noonan-like phenotype without craniosynostosis

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A novel homozygous CHMP1A variant arising from segmental uniparental disomy causes pontocerebellar hypoplasia type 8

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Utility of tissue-specific gene expression scores for gene prioritization in Mendelian diseases

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Comprehensive investigation of CASK mutations and other genetic etiologies in 41 patients with intellectual disability and microcephaly with pontine and cerebellar hypoplasia (MICPCH)

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Distal arthrogryposis in a girl arising from a novel TNNI2 variant inherited from paternal somatic mosaicism

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Biallelic structural variants in three patients with ERCC8-related Cockayne syndrome and a potential pitfall of copy number variation analysis

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Clinical delineation, sex differences, and genotype–phenotype correlation in pathogenic KDM6A variants causing X-linked Kabuki syndrome type 2

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Four pedigrees with aminoacyl-tRNA synthetase abnormalities

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