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31 results for Makita,+Yoshio

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MCAD deficiency caused by compound heterozygous pathogenic variants in ACADM
Author / Creator:Nohara, Fumikatsu ; Tajima, Go ; Sasai, Hideo ; Makita, Yoshio
Publisher:London: Nature Publishing Group UK
Journal title:Human genome variation, 2022-01, Vol.9 (1), p.2-2, Article 2
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Genomic insights into familial adenomatous polyposis: unraveling a rare case with whole APC gene deletion and intellectual disability
Author / Creator:Tanabe, Hiroki ; Ijiri, Masami ; Takahashi, Kenji ; Sasagawa, Honoka ; Kamanaka, Tomomi ; Kuroda, Shohei ; Sato, Hiroki ; Sarashina, Takeo ; Mizukami, Yusuke ; Makita, Yoshio ; Okumura, Toshikatsu
Publisher:London: Nature Publishing Group UK
Journal title:Human genome variation, 2024-03, Vol.11 (1), p.13-4, Article 13
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Detecting copy-number variations in whole-exome sequencing data using the eXome Hidden Markov Model: an ‘exome-first’ approach
Author / Creator:Miyatake, Satoko ; Koshimizu, Eriko ; Fujita, Atsushi ; Fukai, Ryoko ; Imagawa, Eri ; Ohba, Chihiro ; Kuki, Ichiro ; Nukui, Megumi ; Araki, Atsushi ; Makita, Yoshio ; Ogata, Tsutomu ; Nakashima, Mitsuko ; Tsurusaki, Yoshinori ; Miyake, Noriko ; Saitsu, Hirotomo ; Matsumoto, Naomichi
Publisher:England: Nature Publishing Group
Journal title:Journal of human genetics, 2015-04, Vol.60 (4), p.175-182
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GRIA3 p.Met661Thr variant in a female with developmental epileptic encephalopathy
Author / Creator:Okano, Satomi ; Makita, Yoshio ; Miyamoto, Akie ; Taketazu, Genya ; Kimura, Kayano ; Fukuda, Ikue ; Tanaka, Hajime ; Yanagi, Kumiko ; Kaname, Tadashi
Publisher:London: Nature Publishing Group UK
Journal title:Human genome variation, 2023-02, Vol.10 (1), p.4-4, Article 4
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Missense mutations in the DNA-binding/dimerization domain of NFIX cause Sotos-like features
Author / Creator:Yoneda, Yuriko ; Saitsu, Hirotomo ; Touyama, Mayumi ; Makita, Yoshio ; Miyamoto, Akie ; Hamada, Keisuke ; Kurotaki, Naohiro ; Tomita, Hiroaki ; Nishiyama, Kiyomi ; Tsurusaki, Yoshinori ; Doi, Hiroshi ; Miyake, Noriko ; Ogata, Kazuhiro ; Naritomi, Kenji ; Matsumoto, Naomichi
Publisher:England: Nature Publishing Group
Journal title:Journal of human genetics, 2012-03, Vol.57 (3), p.207-211
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Wisconsin syndrome with brain volume laterality: a case report and review of the literature
Author / Creator:Okano, Satomi ; Makita, Yoshio ; Kimura, Kayano ; Fukuda, Ikue ; Miyamoto, Akie ; Tanaka, Hajime
Publisher:England: BioMed Central Ltd
Journal title:Journal of medical case reports, 2022-04, Vol.16 (1), p.153-153, Article 153
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A novel HECW2 variant in an infant with congenital long QT syndrome
Author / Creator:Imanishi, Rina ; Nakau, Kouichi ; Shimada, Sorachi ; Oka, Hideharu ; Takeguchi, Ryo ; Tanaka, Ryosuke ; Sugiyama, Tatsutoshi ; Nii, Mitsumaro ; Okamoto, Toshio ; Nagaya, Ken ; Makita, Yoshio ; Yanagi, Kumiko ; Kaname, Tadashi ; Takahashi, Satoru
Publisher:London: Nature Publishing Group UK
Journal title:Human genome variation, 2023-06, Vol.10 (1), p.17-17, Article 17
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High-resolution genetic analysis of whole APC gene deletions: a report of two cases and patient characteristics
Author / Creator:Tanabe, Hiroki ; Koshizuka, Yasuyuki ; Tanaka, Kazuyuki ; Takahashi, Kenji ; Ijiri, Masami ; Takahashi, Keitaro ; Ando, Katsuyoshi ; Ueno, Nobuhiro ; Kashima, Shin ; Sarashina, Takeo ; Moriichi, Kentaro ; Mitsube, Kenrokuro ; Mizukami, Yusuke ; Fujiya, Mikihiro ; Makita, Yoshio
Publisher:London: Nature Publishing Group UK
Journal title:Human genome variation, 2024-12, Vol.11 (1), p.46-5, Article 46
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Novel NARS2 variant causing leigh syndrome with normal lactate levels
Author / Creator:Tanaka, Ryosuke ; Takeguchi, Ryo ; Kuroda, Mami ; Suzuki, Nao ; Makita, Yoshio ; Yanagi, Kumiko ; Kaname, Tadashi ; Takahashi, Satoru
Publisher:London: Nature Publishing Group UK
Journal title:Human genome variation, 2022-05, Vol.9 (1), p.12-12, Article 12
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Unclassifiable short-rib thoracic dysplasia diagnosed using targeted gene panel sequencing
Author / Creator:Nakajima, Erika ; Yokohama, Yuko ; Sugiyama, Saori ; Taketazu, Mio ; Mitsube, Kenrokuro ; Yamada, Takahiro ; Hammarsjö, Anna ; Grigelioniene, Giedre ; Nishimura, Gen ; Makita, Yoshio
Publisher:London: Nature Publishing Group UK
Journal title:Human genome variation, 2024-12, Vol.11 (1), p.44-3, Article 44
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Haploinsufficiency of NSD1 causes Sotos syndrome
Author / Creator:Kurotaki, Naohiro ; Imaizumi, Kiyoshi ; Harada, Naoki ; Masuno, Mitsuo ; Kondoh, Tatsuro ; Nagai, Toshiro ; Ohashi, Hirofumi ; Naritomi, Kenji ; Tsukahara, Masato ; Makita, Yoshio ; Sugimoto, Tateo ; Sonoda, Tohru ; Hasegawa, Tomoko ; Chinen, Yasuaki ; Tomita, Hiro-aki ; Kinoshita, Akira ; Mizuguchi, Tsuyoshi ; Yoshiura, Koh-ichiro ; Ohta, Tohru ; Kishino, Tatsuya ; Fukushima, Yoshimitsu ; Niikawa, Norio ; Matsumoto, Naomichi
Publisher:New York: Nature Publishing Group US
Journal title:Nature genetics, 2002-04, Vol.30 (4), p.365-366
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Autosomal dominant nocturnal frontal lobe epilepsy: a genotypic comparative study of Japanese and Korean families carrying the CHRNA4 Ser284Leu mutation
Author / Creator:Hwang, Su-Kyeong ; Makita, Yoshio ; Kurahashi, Hirokazu ; Cho, Yong-Won ; Hirose, Shinichi
Publisher:London: Nature Publishing Group UK
Journal title:Journal of human genetics, 2011-08, Vol.56 (8), p.609-612
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Deletion at chromosome 10p11.23-p12.1 defines characteristic phenotypes with marked midface retrusion
Author / Creator:Okamoto, Nana ; Hayashi, Shin ; Masui, Ayako ; Kosaki, Rika ; Oguri, Izumi ; Hasegawa, Tomoko ; Imoto, Issei ; Makita, Yoshio ; Hata, Akira ; Moriyama, Keiji ; Inazawa, Johji
Publisher:England: Nature Publishing Group
Journal title:Journal of human genetics, 2012-03, Vol.57 (3), p.191-196
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Genitopatellar syndrome: the first reported case in Japan
Author / Creator:Okano, Satomi ; Miyamoto, Akie ; Fukuda, Ikue ; Tanaka, Hajime ; Hata, Kenichiro ; Kaname, Tadashi ; Matsubara, Yoichi ; Makita, Yoshio
Publisher:London: Nature Publishing Group UK
Journal title:Human genome variation, 2018-05, Vol.5 (1), p.8-4, Article 8
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SNP array screening of cryptic genomic imbalances in 450 Japanese subjects with intellectual disability and multiple congenital anomalies previously negative for large rearrangements
Author / Creator:Uehara, Daniela Tiaki ; Hayashi, Shin ; Okamoto, Nobuhiko ; Mizuno, Seiji ; Chinen, Yasutsugu ; Kosaki, Rika ; Kosho, Tomoki ; Kurosawa, Kenji ; Matsumoto, Hiroshi ; Mitsubuchi, Hiroshi ; Numabe, Hironao ; Saitoh, Shinji ; Makita, Yoshio ; Hata, Akira ; Imoto, Issei ; Inazawa, Johji
Publisher:England: Nature Publishing Group
Journal title:Journal of human genetics, 2016-04, Vol.61 (4), p.335-343
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Novel compound heterozygous CDH23 variants in a patient with Usher syndrome type I
Author / Creator:Okano, Satomi ; Makita, Yoshio ; Katada, Akihiro ; Harabuchi, Yasuaki ; Kohmoto, Tomohiro ; Naruto, Takuya ; Masuda, Kiyoshi ; Imoto, Issei
Publisher:London: Nature Publishing Group UK
Journal title:Human genome variation, 2019-01, Vol.6 (1), p.8, Article 8
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Domain-specific mutations in TGFB1 result in Camurati-Engelmann disease
Author / Creator:Kinoshita, Akira ; Saito, Takashi ; Tomita, Hiro-aki ; Makita, Yoshio ; Yoshida, Kunihiro ; Ghadami, Mohsen ; Yamada, Koki ; Kondo, Shinji ; Ikegawa, Shiro ; Nishimura, Gen ; Fukushima, Yoshimitsu ; Nakagomi, Tadashi ; Saito, Haruki ; Sugimoto, Takeo ; Kamegaya, Makoto ; Hisa, Kenji ; Murray, Jeffrey C. ; Taniguchi, Naoyuki ; Niikawa, Norio ; Yoshiura, Koh-ichiro
Publisher:New York: Nature Publishing Group US
Journal title:Nature genetics, 2000-09, Vol.26 (1), p.19-20
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Clinical application of array-based comparative genomic hybridization by two-stage screening for 536 patients with mental retardation and multiple congenital anomalies
Author / Creator:Hayashi, Shin ; Imoto, Issei ; Aizu, Yoshinori ; Okamoto, Nobuhiko ; Mizuno, Seiji ; Kurosawa, Kenji ; Okamoto, Nana ; Honda, Shozo ; Araki, Satoshi ; Mizutani, Shuki ; Numabe, Hironao ; Saitoh, Shinji ; Kosho, Tomoki ; Fukushima, Yoshimitsu ; Mitsubuchi, Hiroshi ; Endo, Fumio ; Chinen, Yasutsugu ; Kosaki, Rika ; Okuyama, Torayuki ; Ohki, Hirotaka ; Yoshihashi, Hiroshi ; Ono, Masae ; Takada, Fumio ; Ono, Hiroaki ; Yagi, Mariko ; Matsumoto, Hiroshi ; Makita, Yoshio ; Hata, Akira ; Inazawa, Johji
Publisher:London: Nature Publishing Group UK
Journal title:Journal of human genetics, 2011-02, Vol.56 (2), p.110-124
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Fifty microdeletions among 112 cases of Sotos syndrome: Low copy repeats possibly mediate the common deletion
Author / Creator:Kurotaki, Naohiro ; Harada, Naoki ; Shimokawa, Osamu ; Miyake, Noriko ; Kawame, Hiroshi ; Uetake, Kimiaki ; Makita, Yoshio ; Kondoh, Tatsuro ; Ogata, Tsutomu ; Hasegawa, Tomoko ; Nagai, Toshiro ; Ozaki, Takao ; Touyama, Mayumi ; Shenhav, Ruthie ; Ohashi, Hirofumi ; Medne, Livija ; Shiihara, Takashi ; Ohtsu, Shigeyuki ; Kato, Zen-ichiro ; Okamoto, Nobuhiko ; Nishimoto, Junji ; Lev, Dorit ; Miyoshi, Yoko ; Ishikiriyama, Satoshi ; Sonoda, Tohru ; Sakazume, Satoru ; Fukushima, Yoshimitsu ; Kurosawa, Kenji ; Cheng, Jan-Fang ; Yoshiura, Koh-ichiro ; Ohta, Tohru ; Kishino, Tatsuya ; Niikawa, Norio ; Matsumoto, Naomichi
Publisher:Hoboken: Wiley Subscription Services, Inc., A Wiley Company
Journal title:Human mutation, 2003-11, Vol.22 (5), p.378-387
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Construction of a high-density and high-resolution human chromosome X array for comparative genomic hybridization analysis
Author / Creator:Hayashi, Shin ; Honda, Shozo ; Minaguchi, Maki ; Makita, Yoshio ; Okamoto, Nobuhiko ; Kosaki, Rika ; Okuyama, Torayuki ; Imoto, Issei ; Mizutani, Shuki ; Inazawa, Johji
Publisher:Tokyo: Springer Japan
Journal title:Journal of human genetics, 2007-05, Vol.52 (5), p.397-405
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Showing 1 to 20 of 31 results

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MCAD deficiency caused by compound heterozygous pathogenic variants in ACADM

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Genomic insights into familial adenomatous polyposis: unraveling a rare case with whole APC gene deletion and intellectual disability

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Detecting copy-number variations in whole-exome sequencing data using the eXome Hidden Markov Model: an ‘exome-first’ approach

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GRIA3 p.Met661Thr variant in a female with developmental epileptic encephalopathy

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Missense mutations in the DNA-binding/dimerization domain of NFIX cause Sotos-like features

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Wisconsin syndrome with brain volume laterality: a case report and review of the literature

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A novel HECW2 variant in an infant with congenital long QT syndrome

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High-resolution genetic analysis of whole APC gene deletions: a report of two cases and patient characteristics

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Novel NARS2 variant causing leigh syndrome with normal lactate levels

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Unclassifiable short-rib thoracic dysplasia diagnosed using targeted gene panel sequencing

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Haploinsufficiency of NSD1 causes Sotos syndrome

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Autosomal dominant nocturnal frontal lobe epilepsy: a genotypic comparative study of Japanese and Korean families carrying the CHRNA4 Ser284Leu mutation

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Deletion at chromosome 10p11.23-p12.1 defines characteristic phenotypes with marked midface retrusion

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Genitopatellar syndrome: the first reported case in Japan

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SNP array screening of cryptic genomic imbalances in 450 Japanese subjects with intellectual disability and multiple congenital anomalies previously negative for large rearrangements

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Novel compound heterozygous CDH23 variants in a patient with Usher syndrome type I

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Domain-specific mutations in TGFB1 result in Camurati-Engelmann disease

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Clinical application of array-based comparative genomic hybridization by two-stage screening for 536 patients with mental retardation and multiple congenital anomalies

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Fifty microdeletions among 112 cases of Sotos syndrome: Low copy repeats possibly mediate the common deletion

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Construction of a high-density and high-resolution human chromosome X array for comparative genomic hybridization analysis

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