Torthaí cuardaigh - Shinji Saitoh
- 1 - 20 toradh as 25 á dtaispeáint
- Téigh chuig an gcéad leathanach eile
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1
Parent-of-Origin Specific Histone Acetylation and Reactivation of a Key Imprinted Gene Locus in Prader-Willi Syndrome de réir Shinji Saitoh, Takahito Wada
Foilsithe / Cruthaithe 2000Artigo -
2
An imprinted, mammalian bicistronic transcript encodes two independent proteins de réir Todd A. Gray, Shinji Saitoh, Robert D. Nicholls
Foilsithe / Cruthaithe 1999Artigo -
3
Growth Factors Released from Gelatin Hydrogel Microspheres Increase New Neurons in the Adult Mouse Brain de réir Kanako Nakaguchi, Hideo Jinnou, Naoko Kaneko, Masato Sawada, Takao Hikita, Shinji Saitoh, Yasuhiko Tabata, Kazunobu Sawamoto
Foilsithe / Cruthaithe 2012Artigo -
4
KIF1A mutation in a patient with progressive neurodegeneration de réir Nobuhiko Okamoto, Fuyuki Miya, Tatsuhiko Tsunoda, Keiko Yanagihara, Mitsuhiro Kato, Shinji Saitoh, Mami Yamasaki, Yonehiro Kanemura, Kenjiro Kosaki
Foilsithe / Cruthaithe 2014Artigo -
5
A Longer Polyalanine Expansion Mutation in the ARX Gene Causes Early Infantile Epileptic Encephalopathy with Suppression-Burst Pattern (Ohtahara Syndrome) de réir Mitsuhiro Kato, Shinji Saitoh, Atsushi Kamei, Hideaki Shiraishi, Yuki Ueda, Manami Akasaka, Jun Tohyama, Noriyuki Akasaka, Kiyoshi Hayasaka
Foilsithe / Cruthaithe 2007Artigo -
6
A Novel Imprinted Gene, Encoding a RING Zinc-Finger Protein, and Overlapping Antisense Transcript in the Prader-Willi Syndrome Critical Region de réir M T Jong, Todd A. Gray, Yazhong Ji, Christopher C. Glenn, Shinji Saitoh, Daniel J. Driscoll, Robert D. Nicholls
Foilsithe / Cruthaithe 1999Artigo -
7
Effects of long working hours and shift work during pregnancy on obstetric and perinatal outcomes: A large prospective cohort study—Japan Environment and Children’s Study de réir Nobuhiro Suzumori, Takeshi Ebara, Taro Matsuki, Yasuyuki Yamada, Sayaka Kato, Toyonori Omori, Shinji Saitoh, Michihiro Kamijima, Mayumi Sugiura‐Ogasawara
Foilsithe / Cruthaithe 2019Artigo -
8
Modification of 15q11 — q13 DNA methylation imprints in unique Angelman and Prader — Willi patients de réir Christopher C. Glenn, Robert D. Nicholls, Wendy P. Robinson, Shinji Saitoh, Norlo Nllkawa, Albert Schlnzel, Bernhard Horsthemke, Daniel J. Driscoll
Foilsithe / Cruthaithe 1993Artigo -
9
Minimal definition of the imprinting center and fixation of chromosome 15q11-q13 epigenotype by imprinting mutations. de réir Shinji Saitoh, Karin Buiting, Peter K. Rogan, Jessica L. Buxton, Daniel J. Driscoll, J Arnemann, Rainer König, S Malcolm, B. Horsthemke, Robert D. Nicholls
Foilsithe / Cruthaithe 1996Artigo -
10
Adverse pregnancy and perinatal outcome in patients with recurrent pregnancy loss: Multiple imputation analyses with propensity score adjustment applied to a large‐scale birth coho... de réir Mayumi Sugiura‐Ogasawara, Takeshi Ebara, Yasuyuki Yamada, Naoto Shoji, Taro Matsuki, Hirohisa Kano, Takahiro Kurihara, Toyonori Omori, Motohiro Tomizawa, Maiko Miyata, Michihiro Kamijima, Shinji Saitoh
Foilsithe / Cruthaithe 2018Artigo -
11
Congenital goitrous hypothyroidism is caused by dysfunction of the iodide transporter SLC26A7 de réir Jun Ishii, Atsushi Suzuki, Tōru Kimura, Michihiro Tateyama, Tatsushi Tanaka, Takuya Yazawa, Yu Arimasu, I‐Shan Chen, Kohei Aoyama, Yoshihiro Kubo, Shinji Saitoh, Haruo Mizuno, Hiroshi Kamma
Foilsithe / Cruthaithe 2019Artigo -
12
Temple syndrome: comprehensive molecular and clinical findings in 32 Japanese patients de réir Masayo Kagami, Keisuke Nagasaki, Rika Kosaki, Reiko Horikawa, Yasuhiro Naiki, Shinji Saitoh, Toshihiro Tajima, Tohru Yorifuji, Chikahiko Numakura, Seiji Mizuno, Akie Nakamura, Keiko Matsubara, Maki Fukami, Tsutomu Ogata
Foilsithe / Cruthaithe 2017Artigo -
13
Acute encephalopathy in children with Dravet syndrome de réir Akihisa Okumura, Mitsugu Uematsu, George Imataka, Manabu Tanaka, Tohru Okanishi, Tetsuo Kubota, Akira Sudo, Jun Tohyama, Megumi Tsuji, Iori Ohmori, Misako Naiki, Ayako Hiraiwa‐Sofue, Hitoshi Sato, Shinji Saitoh, Toshiaki Shimizu
Foilsithe / Cruthaithe 2011Artigo -
14
Radial Glial Fibers Promote Neuronal Migration and Functional Recovery after Neonatal Brain Injury de réir Hideo Jinnou, Masato Sawada, Koya Kawase, Naoko Kaneko, Vicente Herranz‐Pérez, Takuya Miyamoto, Takumi Kawaue, Takaki Miyata, Yasuhiko Tabata, Toshihiro Akaike, José Manuel García‐Verdugo, Itsuki Ajioka, Shinji Saitoh, Kazunobu Sawamoto
Foilsithe / Cruthaithe 2017Artigo -
15
Imprinting-Mutation Mechanisms in Prader-Willi Syndrome de réir Tohru Ohta, Todd A. Gray, Peter K. Rogan, Karin Buiting, James M. Gabriel, Shinji Saitoh, Bethi Muralidhar, B. Bilienska, Małgorzata Krajewska‐Walasek, Daniel J. Driscoll, Bernhard Horsthemke, Merlin G. Butler, Robert D. Nicholls
Foilsithe / Cruthaithe 1999Artigo -
16
Impaired neuronal KCC2 function by biallelic SLC12A5 mutations in migrating focal seizures and severe developmental delay de réir Hirotomo Saitsu, Miho Watanabe, Tenpei Akita, Chihiro Ohba, Kenji Sugai, Winnie Ong, Hideaki Shiraishi, Shota Yuasa, Hiroshi Matsumoto, Khoo Teik Beng, Shinji Saitoh, Satoko Miyatake, Mitsuko Nakashima, Noriko Miyake, Mitsuhiro Kato, Atsuo Fukuda, Naomichi Matsumoto
Foilsithe / Cruthaithe 2016Artigo -
17
Mutations of the FHL1 Gene Cause Emery-Dreifuss Muscular Dystrophy de réir Lucie Gueneau, A. Bertrand, Jean‐Philippe Jaïs, Mustafa A. Salih, Tanya Stojkovic, Manfred Wehnert, Maria Hoeltzenbein, Simone Spuler, Shinji Saitoh, Annie Verschueren, Christine Tranchant, Maud Beuvin, Emmanuelle Lacène, Norma B. Romero, Simon Heath, Diana Zélénika, Thomas Voït, B. Eymard, Rabah Ben Yaou, Gisèle Bonne
Foilsithe / Cruthaithe 2009Artigo -
18
Dominant-Negative Mutations in α-II Spectrin Cause West Syndrome with Severe Cerebral Hypomyelination, Spastic Quadriplegia, and Developmental Delay de réir Hirotomo Saitsu, Jun Tohyama, Tatsuro Kumada, Kiyoshi Egawa, Keisuke Hamada, Ippei Okada, Takeshi Mizuguchi, Hitoshi Osaka, Rie Miyata, T Furukawa, Kazuhiro Haginoya, Hideki Hoshino, Tomohide Goto, Yasuo Hachiya, Takanori Yamagata, Shinji Saitoh, Toshiro Nagai, Kiyomi Nishiyama, Akira Nishimura, Noriko Miyake, Masayuki Komada, Kenji Hayashi, Syu-ichi Hirai, Kazuhiro Ogata, Mitsuhiro Kato, Atsuo Fukuda, Naomichi Matsumoto
Foilsithe / Cruthaithe 2010Artigo -
19
Defects in autophagosome-lysosome fusion underlie Vici syndrome, a neurodevelopmental disorder with multisystem involvement de réir Ikumi Hori, Takanobu Otomo, Mitsuko Nakashima, Fuyuki Miya, Yutaka Negishi, Hideaki Shiraishi, Yutaka Nonoda, Shinichi Magara, Jun Tohyama, Nobuhiko Okamoto, Takeshi Kumagai, Konomi Shimoda, Yoshiya Yukitake, Daigo Kajikawa, Tomohiro Morio, Ayako Hattori, Motoo Nakagawa, N Ando, Ichizo Nishino, Mitsuhiro Kato, Tatsuhiko Tsunoda, Hirotomo Saitsu, Yonehiro Kanemura, Mami Yamasaki, Kenjiro Kosaki, Naomichi Matsumoto, Tamotsu Yoshimori, Shinji Saitoh
Foilsithe / Cruthaithe 2017Artigo -
20
Association of HLA-A*31:01 Screening With the Incidence of Carbamazepine-Induced Cutaneous Adverse Reactions in a Japanese Population de réir Taisei Mushiroda, Yukitoshi Takahashi, Teiichi Onuma, Yoshiaki Yamamoto, Tetsumasa Kamei, Tohru Hoshida, Katsuya Takeuchi, Kotaro Otsuka, Mitsutoshi Okazaki, Masako Watanabe, Kousuke Kanemoto, Tomohiro Oshima, Atsushi Watanabe, Shiro Minami, Kayoko Saito, Hisashi Tanii, Yasushi Shimo, Minoru Hara, Shinji Saitoh, Toshihiko Kinoshita, Masaki Kato, Naoto Yamada, Naoki Akamatsu, Toshihiko Fukuchi, Shigenobu Ishida, Shingo Yasumoto, Atsushi Takahashi, Takeshi Ozeki, Takahisa Furuta, Yoshiro Saito, Nobuyuki Izumida, Yoko Kano, Tetsuo Shiohara, Michiaki Kubo
Foilsithe / Cruthaithe 2018Artigo
Uirlisí cuardaigh:
Ábhair a bhaineann le hábhar
Biology
Genetics
Gene
Medicine
Mutation
Internal medicine
Neuroscience
Imprinting (psychology)
DNA methylation
Epilepsy
Exome sequencing
Gene expression
Genomic imprinting
Allele
Biochemistry
Cell biology
Environmental health
Exon
Locus (genetics)
Molecular biology
Pathology
Phenotype
Population
Psychology
Angelman syndrome
Chemistry
Chromosome
Chromosome 15
Clinical phenotype
Cohort