NT5E Genetic Mutation Is a Rare But Important Cause of Intermittent Claudication and Chronic Limb-Threatening Ischemia
Azuma, Nobuyoshi, Uchida, Tetsuro, Kikuchi, Shinsuke, Sadahiro, Mitsuaki, Shintani, Tsunehiro, Yanagi, Kumiko, Higashita, Ryuji, Yamashita, Atsushi, Makita, Yoshio, Kaname, Tadashi
Published in Circulation Journal (25.06.2020)
Published in Circulation Journal (25.06.2020)
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Clinical characteristics of muscle cramps in hereditary angiopathy with nephropathy, aneurysms, and muscle cramps syndrome associated with a novel COL4A1 pathogenic variant: A family case study
Haga, Shunsuke, Takeguchi, Ryo, Tanaka, Ryosuke, Satake, Akira, Makita, Yoshio, Yanagi, Kumiko, Kaname, Tadashi, Takahashi, Satoru
Published in Brain & development (Tokyo. 1979) (01.08.2023)
Published in Brain & development (Tokyo. 1979) (01.08.2023)
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MCAD deficiency caused by compound heterozygous pathogenic variants in ACADM
Nohara, Fumikatsu, Tajima, Go, Sasai, Hideo, Makita, Yoshio
Published in Human genome variation (17.01.2022)
Published in Human genome variation (17.01.2022)
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Detecting copy-number variations in whole-exome sequencing data using the eXome Hidden Markov Model: an 'exome-first' approach
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
Published in Journal of human genetics (01.04.2015)
Published in Journal of human genetics (01.04.2015)
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Missense mutations in the DNA-binding/dimerization domain of NFIX cause Sotos-like features
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
Published in Journal of human genetics (01.03.2012)
Published in Journal of human genetics (01.03.2012)
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GRIA3 p.Met661Thr variant in a female with developmental epileptic encephalopathy
Okano, Satomi, Makita, Yoshio, Miyamoto, Akie, Taketazu, Genya, Kimura, Kayano, Fukuda, Ikue, Tanaka, Hajime, Yanagi, Kumiko, Kaname, Tadashi
Published in Human genome variation (02.02.2023)
Published in Human genome variation (02.02.2023)
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Wisconsin syndrome with brain volume laterality: a case report and review of the literature
Okano, Satomi, Makita, Yoshio, Kimura, Kayano, Fukuda, Ikue, Miyamoto, Akie, Tanaka, Hajime
Published in Journal of medical case reports (16.04.2022)
Published in Journal of medical case reports (16.04.2022)
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Unclassifiable short-rib thoracic dysplasia diagnosed using targeted gene panel sequencing
Nakajima, Erika, Yokohama, Yuko, Sugiyama, Saori, Taketazu, Mio, Mitsube, Kenrokuro, Yamada, Takahiro, Hammarsjö, Anna, Grigelioniene, Giedre, Nishimura, Gen, Makita, Yoshio
Published in Human genome variation (03.12.2024)
Published in Human genome variation (03.12.2024)
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Novel NARS2 variant causing leigh syndrome with normal lactate levels
Tanaka, Ryosuke, Takeguchi, Ryo, Kuroda, Mami, Suzuki, Nao, Makita, Yoshio, Yanagi, Kumiko, Kaname, Tadashi, Takahashi, Satoru
Published in Human genome variation (04.05.2022)
Published in Human genome variation (04.05.2022)
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A novel HECW2 variant in an infant with congenital long QT syndrome
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
Published in Human genome variation (06.06.2023)
Published in Human genome variation (06.06.2023)
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High-resolution genetic analysis of whole APC gene deletions: a report of two cases and patient characteristics
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
Published in Human genome variation (04.12.2024)
Published in Human genome variation (04.12.2024)
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Genomic insights into familial adenomatous polyposis: unraveling a rare case with whole APC gene deletion and intellectual disability
Tanabe, Hiroki, Ijiri, Masami, Takahashi, Kenji, Sasagawa, Honoka, Kamanaka, Tomomi, Kuroda, Shohei, Sato, Hiroki, Sarashina, Takeo, Mizukami, Yusuke, Makita, Yoshio, Okumura, Toshikatsu
Published in Human genome variation (29.03.2024)
Published in Human genome variation (29.03.2024)
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Relapsing 6q24-related transient neonatal diabetes mellitus with insulin resistance: A case report
Uchida, Noboru, Ohnishi, Takuma, Kojima, Takuro, Takahashi, Tsutomu, Makita, Yoshio, Fukami, Maki, Shibata, Hironori, Hasegawa, Tomonobu, Ishii, Tomohiro
Published in Clinical Pediatric Endocrinology (01.01.2020)
Published in Clinical Pediatric Endocrinology (01.01.2020)
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Molecular Basis of Neonatal Diabetes in Japanese Patients
Suzuki, Shigeru, Makita, Yoshio, Mukai, Tokuo, Matsuo, Kumihiro, Ueda, Osamu, Fujieda, Kenji
Published in The journal of clinical endocrinology and metabolism (01.10.2007)
Published in The journal of clinical endocrinology and metabolism (01.10.2007)
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Case Report: A Rare Case of Esophagogastric Junctional Squamous Cell Carcinoma After the Successful Treatment of Neuroendocrine Carcinoma: Clonal Tumor Evolution Revealed by Genetic Analysis
Sato, Hiroki, Saito, Takeshi, Horii, Hiroshi, Kajiura, Mami, Kikuchi, Noriaki, Takada, Nobuhisa, Taguchi, Koichi, Yoshida, Mika, Hasegawa, Masakazu, Taguchi, Hiroyuki, Yoshida, Yukinori, Ando, Katsuyoshi, Fujiya, Mikihiro, Omori, Yuko, Hank, Thomas, Liss, Andrew S., Gala, Manish K., Makita, Yoshio, Ono, Yusuke, Mizukami, Yusuke, Okumura, Toshikatsu
Published in Frontiers in genetics (15.09.2021)
Published in Frontiers in genetics (15.09.2021)
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MBTPS2 mutation causes BRESEK/BRESHECK syndrome
Naiki, Misako, Mizuno, Seiji, Yamada, Kenichiro, Yamada, Yasukazu, Kimura, Reiko, Oshiro, Makoto, Okamoto, Nobuhiko, Makita, Yoshio, Seishima, Mariko, Wakamatsu, Nobuaki
Published in American journal of medical genetics. Part A (01.01.2012)
Published in American journal of medical genetics. Part A (01.01.2012)
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Autosomal dominant nocturnal frontal lobe epilepsy: a genotypic comparative study of Japanese and Korean families carrying the CHRNA4 Ser284Leu mutation
Hwang, Su-Kyeong, Makita, Yoshio, Kurahashi, Hirokazu, Cho, Yong-Won, Hirose, Shinichi
Published in Journal of human genetics (01.08.2011)
Published in Journal of human genetics (01.08.2011)
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Deletion at chromosome 10p11.23-p12.1 defines characteristic phenotypes with marked midface retrusion
Okamoto, Nana, Hayashi, Shin, Masui, Ayako, Kosaki, Rika, Oguri, Izumi, Hasegawa, Tomoko, Imoto, Issei, Makita, Yoshio, Hata, Akira, Moriyama, Keiji, Inazawa, Johji
Published in Journal of human genetics (01.03.2012)
Published in Journal of human genetics (01.03.2012)
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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
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
Published in Journal of human genetics (01.04.2016)
Published in Journal of human genetics (01.04.2016)
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Genitopatellar syndrome: the first reported case in Japan
Okano, Satomi, Miyamoto, Akie, Fukuda, Ikue, Tanaka, Hajime, Hata, Kenichiro, Kaname, Tadashi, Matsubara, Yoichi, Makita, Yoshio
Published in Human genome variation (28.05.2018)
Published in Human genome variation (28.05.2018)
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