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

Autor: Shimojima Yamamoto K; Department of Transfusion Medicine and Cell Processing, Tokyo Women's Medical University, Tokyo, 162-8666, Japan.; Institute of Medical Genetics, Tokyo Women's Medical University, Tokyo, 162-8666, Japan., Tamura T; Department of Pediatrics and Child Health, Nihon University School of Medicine, Tokyo, 173-8610, Japan.; Division of Gene Medicine, Graduate Scholl of Medical Science, Tokyo Women's Medical University, Tokyo, 162-8666, Japan., Okamoto N; Department of Medical Genetics, Osaka Women's and Children's Hospital, Izumi, 594-1101, Japan., Nishi E; Department of Medical Genetics, Osaka Women's and Children's Hospital, Izumi, 594-1101, Japan., Noguchi A; Department of Pediatrics, Akita University Graduate School of Medicine, Akita, 010-8543, Japan., Takahashi I; Department of Pediatrics, Akita University Graduate School of Medicine, Akita, 010-8543, Japan., Sawaishi Y; Department of Pediatrics, Akita Prefectural Center on Development and Disability, Akita, 010-0000, Japan., Shimizu M; Department of Pediatrics and Developmental Biology, Graduate School of Medical and Dental Sciences, Tokyo Medical and Dental University, Tokyo, 113-8519, Japan., Kanno H; Department of Transfusion Medicine and Cell Processing, Tokyo Women's Medical University, Tokyo, 162-8666, Japan.; Institute of Medical Genetics, Tokyo Women's Medical University, Tokyo, 162-8666, Japan., Minakuchi Y; Department of Genomics and Evolutionary Biology, National Institute of Genetics, Mishima, Shizuoka, 411-0801, Japan., Toyoda A; Department of Genomics and Evolutionary Biology, National Institute of Genetics, Mishima, Shizuoka, 411-0801, Japan., Yamamoto T; Institute of Medical Genetics, Tokyo Women's Medical University, Tokyo, 162-8666, Japan. yamamoto.toshiyuki@twmu.ac.jp.; Division of Gene Medicine, Graduate Scholl of Medical Science, Tokyo Women's Medical University, Tokyo, 162-8666, Japan. yamamoto.toshiyuki@twmu.ac.jp.

Publikováno v: Journal of human genetics [J Hum Genet] 2023 Nov; Vol. 68 (11), pp. 751-757. Date of Electronic Publication: 2023 Jul 10.

Monochorionic diamniotic twins without twin-twin transfusion syndrome: Severe brain damage in the larger infant.

Autor: Arai H; Department of Neonatology, Akita Red Cross Hospital, Akita, Japan., Sawaishi Y; Division of Pediatrics, Akita Prefectural Center on Development and Disability, Akita, Japan., Kato A; Department of Pediatrics, Akita University Graduate School of Medicine, Akita, Japan., Ito T; Department of Neonatology, Akita Red Cross Hospital, Akita, Japan., Takahashi T; Department of Pediatrics, Akita University Graduate School of Medicine, Akita, Japan.

Publikováno v: Pediatrics international : official journal of the Japan Pediatric Society [Pediatr Int] 2019 Sep; Vol. 61 (9), pp. 924-925. Date of Electronic Publication: 2019 Sep 11.

Recurrent SCN3A p.Ile875Thr variant in patients with polymicrogyria.

Autor: Miyatake S; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Kanagawa, Japan.; Clinical Genetics Department, Yokohama City University Hospital, Yokohama, Kanagawa, Japan., Kato M; Department of Pediatrics, Showa University School of Medicine, Tokyo, Japan., Sawaishi Y; Department of Pediatrics, Akita Prefectural Center on Development and Disability, Akita, Japan., Saito T; Department of Child Neurology, National Center Hospital of Neurology and Psychiatry, Kodaira, Japan., Nakashima M; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Kanagawa, Japan.; Department of Biochemistry, Hamamatsu University School of Medicine, Shizuoka, Japan., Mizuguchi T; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Kanagawa, Japan., Mitsuhashi S; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Kanagawa, Japan., Takata A; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Kanagawa, Japan., Miyake N; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Kanagawa, Japan., Saitsu H; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Kanagawa, Japan.; Department of Biochemistry, Hamamatsu University School of Medicine, Shizuoka, Japan., Matsumoto N; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Kanagawa, Japan.

Publikováno v: Annals of neurology [Ann Neurol] 2018 Jul; Vol. 84 (1), pp. 159-161. Date of Electronic Publication: 2018 Jul 30.

Mutations of the NOG gene in individuals with proximal symphalangism and multiple synostosis syndrome.

Autor: Takahashi, T, Takahashi, I, Komatsu, M, Sawaishi, Y, Higashi, K, Nishimura, G, Saito, H, Takada, G

Publikováno v: Clinical Genetics; Dec2001, Vol. 60 Issue 6, p447-451, 5p

PARS2 and NARS2 mutations in infantile-onset neurodegenerative disorder.

Autor: Mizuguchi T; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan., Nakashima M; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan., Kato M; Department of Pediatrics, Showa University School of Medicine, Tokyo, Japan., Yamada K; Division of Pediatric Neurology, Aichi Prefectural Colony Central Hospital, Aichi, Japan., Okanishi T; Department of Child Neurology, Comprehensive Epilepsy Center, Seirei Hamamatsu General Hospital, Hamamatsu, Japan., Ekhilevitch N; The Genetics Institute and Metabolic Unit, Rambam Health Care Campus, Haifa, Israel.; Rappaport School of Medicine, Technion-Israel Institute of Technology, Haifa, Israel., Mandel H; The Genetics Institute and Metabolic Unit, Rambam Health Care Campus, Haifa, Israel.; Rappaport School of Medicine, Technion-Israel Institute of Technology, Haifa, Israel., Eran A; Department of Radiology, Rambam Health Care Campus, Haifa, Israel., Toyono M; Department of Pediatrics, Akita Prefectural Center on Development and Disability, Akita, Japan., Sawaishi Y; Department of Pediatrics, Akita Prefectural Center on Development and Disability, Akita, Japan., Motoi H; Department of Child Neurology, Comprehensive Epilepsy Center, Seirei Hamamatsu General Hospital, Hamamatsu, Japan., Shiina M; Department of Biochemistry, Yokohama City University Graduate School of Medicine, Yokohama, Japan., Ogata K; Department of Biochemistry, Yokohama City University Graduate School of Medicine, Yokohama, Japan., Miyatake S; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan., Miyake N; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan., Saitsu H; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.; Department of Biochemistry, Hamamatsu University School of Medicine, Hamamatsu, Japan., Matsumoto N; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.

Publikováno v: Journal of human genetics [J Hum Genet] 2017 Apr; Vol. 62 (5), pp. 525-529. Date of Electronic Publication: 2017 Jan 12.