Search Results - "Matsuo, Mari"

Epidemiological investigation of spinal muscular atrophy in Japan by Ito, Mayuri, Yamauchi, Akemi, Urano, Mari, Kato, Tamaki, Matsuo, Mari, Nakashima, Kenji, Saito, Kayoko

“…International reporting of epidemiological surveys of spinal muscular atrophy (SMA) in Japan has been limited to Shikoku, despite the epidemiology of the…”
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An Overview of the Clinical Characteristics of Japanese Patients with Spinal Muscular Atrophy: Data from SMART Consortium by Kato, Tamaki, Urano, Mari, Matsuo, Mari, Saito, Kayoko

“…Background: Patient registries play an important role in rare disease, particularly for recruitment of clinical trials and clinical research.Methods: In 2012,…”
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Factors Surrounding the Healthcare Transition From Pediatric to Adult Care in 5p- Syndrome: A Survey Among Healthcare Professionals by Ishizaki, Yuko, Matsuo, Mari, Saito, Kayoko, Fujihira, Yoko

“…Background The 5p- syndrome is associated with intellectual disturbance and physical complications from infancy, and patients continue treatment into…”
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Diagnosis and Genetic Counseling for Mitochondrial Disease at the Institute of Medical Genetics, Tokyo Women's Medical University by Mari MATSUO, Naoko IWASAKI, Kayoko SAITO

“…We performed a retrospective review of medical records of patients seeking genetic counseling for mitochondrial disease at our clinic between 2004 and 2015. Of…”
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Long‐term natural history of an adult patient with distal 22q11.2 deletion from low copy repeat‐D to E by Matsuo, Mari, Yamamoto, Toshiyuki, Saito, Kayoko

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Mandibulofacial dysostosis with microcephaly: A case presenting with seizures by Matsuo, Mari, Yamauchi, Akemi, Ito, Yasushi, Sakauchi, Masako, Yamamoto, Toshiyuki, Okamoto, Nobuhiko, Tsurusaki, Yoshinori, Miyake, Noriko, Matsumoto, Naomichi, Saito, Kayoko

“…Abstract We report a case of mandibulofacial dysostosis with microcephaly presenting with seizures. The proband, a 6-year-old Korean boy, had microcephaly,…”
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Clinical manifestations of the deletion of Down syndrome critical region including DYRK1A and KCNJ6 by Yamamoto, Toshiyuki, Shimojima, Keiko, Nishizawa, Tsutomu, Matsuo, Mari, Ito, Masahiro, Imai, Katsumi

“…A relatively small region of human chromosome 21 (Hsa21) is considered to play a major role in Down syndrome (DS) phenotypes, and the concept of a Down…”
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Microarray analysis of 50 patients reveals the critical chromosomal regions responsible for 1p36 deletion syndrome-related complications by Shimada, Shino, Shimojima, Keiko, Okamoto, Nobuhiko, Sangu, Noriko, Hirasawa, Kyoko, Matsuo, Mari, Ikeuchi, Mayo, Shimakawa, Shuichi, Shimizu, Kenji, Mizuno, Seiji, Kubota, Masaya, Adachi, Masao, Saito, Yoshiaki, Tomiwa, Kiyotaka, Haginoya, Kazuhiro, Numabe, Hironao, Kako, Yuko, Hayashi, Ai, Sakamoto, Haruko, Hiraki, Yoko, Minami, Koichi, Takemoto, Kiyoshi, Watanabe, Kyoko, Miura, Kiyokuni, Chiyonobu, Tomohiro, Kumada, Tomohiro, Imai, Katsumi, Maegaki, Yoshihiro, Nagata, Satoru, Kosaki, Kenjiro, Izumi, Tatsuro, Nagai, Toshiro, Yamamoto, Toshiyuki

“…Abstract Objective Monosomy 1p36 syndrome is the most commonly observed subtelomeric deletion syndrome. Patients with this syndrome typically have common…”
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Effect of dietary fatty acid and micronutrient intake/energy ratio on serum diamine oxidase activity in healthy women by Miyoshi, Makoto, M.T., Ph.D, Ueno, Manami, R.D, Matsuo, Mari, R.D, Hamada, Yasuhiro, M.D., Ph.D, Takahashi, Michiko, M.D., Ph.D, Yamamoto, Masashi, M.D., Ph.D, Yamamoto, Ikuko, R.D., M.S, Mikajiri, Reiko, R.D., M.S, Tabuchi, Satoko, R.D., M.S, Wakida, Kumiko, R.D, Yamanishi, Misa, R.D, Hirai, Midori, P.C., Ph.D, Usami, Makoto, M.D., Ph.D

“…Abstract Objective Serum diamine oxidase (DAO) activity varies to a greater extent in women than in men. DAO activity during the luteal phase was higher than…”
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The spectrum of ZEB2 mutations causing the Mowat-Wilson syndrome in Japanese populations by Yamada, Yasukazu, Nomura, Noriko, Yamada, Kenichiro, Matsuo, Mari, Suzuki, Yuka, Sameshima, Kiyoko, Kimura, Reiko, Yamamoto, Yuto, Fukushi, Daisuke, Fukuhara, Yayoi, Ishihara, Naoko, Nishi, Eriko, Imataka, George, Suzumura, Hiroshi, Hamano, Shin-Ichiro, Shimizu, Kenji, Iwakoshi, Mie, Ohama, Kazunori, Ohta, Akira, Wakamoto, Hiroyuki, Kajita, Mitsuharu, Miura, Kiyokuni, Yokochi, Kenji, Kosaki, Kenjiro, Kuroda, Tatsuo, Kosaki, Rika, Hiraki, Yoko, Saito, Kayoko, Mizuno, Seiji, Kurosawa, Kenji, Okamoto, Nobuhiko, Wakamatsu, Nobuaki

“…Mowat–Wilson syndrome (MWS) is a multiple congenital anomaly syndrome characterized by moderate or severe intellectual disability, a characteristic facial…”
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Genomic copy number variations at 17p13.3 and epileptogenesis by Shimojima, Keiko, Sugiura, Chitose, Takahashi, Hiroka, Ikegami, Mariko, Takahashi, Yukitoshi, Ohno, Kousaku, Matsuo, Mari, Saito, Kayoko, Yamamoto, Toshiyuki

“…Summary Deletion of the terminal end of 17p is responsible for Miller-Dieker syndrome (MDS), which is characterized by lissencephaly, distinctive facial…”
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Latent tuberculosis infection and tuberculosis in children and adolescents by Ishikawa, Cassia Satsuki, Matsuo, Olivia Mari, Sarno, Flavio

“…To describe the characteristics of patients diagnosed with tuberculosis and latent tuberculosis infection. A retrospective study, between 2012 and 2015, with…”
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In‐depth cardiovascular and pulmonary assessments in children with multisystem inflammatory syndrome after SARS‐CoV‐2 infection: A case series study by Astley, Camilla, Badue Pereira, Maria Fernanda, Lima, Marcos Santos, Buchpiguel, Carlos Alberto, Carneiro, Camila G., Sapienza, Marcelo Tatit, Leal, Gabriela Nunes, Prado, Danilo Marcelo Leite, Peçanha, Tiago, Sieczkowska, Sofia Mendes, Matsuo, Olivia Mari, Lindoso, Livia, Marques, Heloisa Helena, Silva, Clovis Artur, Gualano, Bruno

“…We assessed PET‐CT myocardial blood flow (MBF) using N‐13 ammonia, brachial flow‐mediated dilation, and cardiopulmonary exercise test in five post‐discarged…”
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Mowat-Wilson Syndrome Affecting 3 Siblings by Ohtsuka, Motoko, Oguni, Hirokazu, Ito, Yasushi, Nakayama, Tomohiro, Matsuo, Mari, Osawa, Makiko, Saito, Kayoko, Yamada, Yasukazu, Wakamatsu, Nobuaki

“…We herein report 3 cases of Mowat-Wilson syndrome, characterized by distinct facial features, severe psychomotor retardation, and epilepsy, recurring in 3…”
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Clinical presentation, EEG studies, and novel mutations in two cases of GLUT1 deficiency syndrome in Japan by Ito, Yasushi, Gertsen, Elena, Oguni, Hirokazu, Nakayama, Tomohiro, Matsuo, Mari, Funatsuka, Makoto, Voit, Thomas, Klepper, Jörg, Osawa, Makiko

“…We report the first two Japanese children diagnosed with glucose transporter type 1 (GLUT1) deficiency syndrome. Both boys had been treated under the initial…”
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A sibling case of Wolfram syndrome with a novel mutation Y652X in WFS1 by Iwasaki, Naoko, Fukawa, Kaori, Matsuo, Mari, Urano, Mari, Watanabe, Motoko, Ono, Yuko, Tanabe, Katsuya, Tanizawa, Yukio, Ogata, Makiko, Ide, Risa, Takizawa, Miho, Nagata, Satoru, Osawa, Makiko, Uchigata, Yasuko, Saito, Kayoko

“…We report on two Japanese siblings with Wolfram syndrome (WS) who were identified as carrying a novel mutation in Wolfram syndrome 1 ( WFS1 ). The homozygous…”
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Further delineation of the behavioral and neurologic features in Costello syndrome by Kawame, Hiroshi, Matsui, Mihoko, Kurosawa, Kenji, Matsuo, Mari, Masuno, Mitsuo, Ohashi, Hirofumi, Fueki, Noboru, Aoyama, Kouki, Miyatsuka, Yukiko, Suzuki, Kaoru, Akatsuka, Akira, Ochiai, Yukikatsu, Fukushima, Yoshimitsu

“…To describe clinical and neurodevelopmental phenotypes of Costello syndrome, we performed a retrospective review of the clinical records and findings in 10…”
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Gene mutation and genetic counseling by Matsuo, Mari, Urano, Mari, Saito, Kayoko

“…With the advance of technology of genetic research, a lot of genetic testing has been available as a clinical service. The genetic testing has sometimes been…”
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Change in Sleep and Depressive Symptoms in The Perinatal Periode: A Case Series of Four Japanese Mothers by Kumiko Kido, Mari Matsuo, Yuko Uemura, Atsuko Shiota, Satoshi Tada

“…Background: Late maternal deaths have been associated with psychiatric disorders such as perinatal depression and their prevention is an important issue within…”
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An Overview of the Clinical Characteristics of Japanese Patients with Spinal Muscular Atrophy: Data from SMART Consortium by Kato, Tamaki, Urano, Mari, Matsuo, Mari, Saito, Kayoko

“…Background: Patient registries play an important role in rare disease, particularly for recruitment of clinical trials and clinical research.Methods: In 2012,…”
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