フォロー
Shinji Saitoh
Shinji Saitoh
Nagoya City University, Graduate School of Medical Sciences
確認したメール アドレス: med.nagoya-cu.ac.jp
タイトル
引用先
引用先
Inherited microdeletions in the Angelman and Prader–Willi syndromes define an imprinting centre on human chromosome 15
K Buiting, S Saitoh, S Gross, B Dittrich, S Schwartz, RD Nicholls, ...
Nature genetics 9 (4), 395-400, 1995
7031995
Imprinting in Prader–Willi and Angelman syndromes
RD Nicholls, S Saitoh, B Horsthemke
Trends in Genetics 14 (5), 194-200, 1998
5321998
Imprinting-mutation mechanisms in Prader-Willi syndrome
T Ohta, TA Gray, PK Rogan, K Buiting, JM Gabriel, S Saitoh, B Muralidhar, ...
The American Journal of Human Genetics 64 (2), 397-413, 1999
3481999
Imprint switching on human chromosome 15 may involve alternative transcripts of the SNRPN gene
B Dittrich, K Buiting, B Korn, S Rickard, J Buxton, S Saitoh, RD Nicholls, ...
Nature genetics 14 (2), 163-170, 1996
3061996
Clinicopathological features of genetically confirmed Danon disease
K Sugie, A Yamamoto, K Murayama, SJ Oh, M Takahashi, M Mora, ...
Neurology 58 (12), 1773-1778, 2002
2862002
Gene structure, DNA methylation, and imprinted expression of the human SNRPN gene.
CC Glenn, S Saitoh, MT Jong, MM Filbrandt, U Surti, DJ Driscoll, ...
American journal of human genetics 58 (2), 335, 1996
2841996
A novel imprinted gene, encoding a RING zinc-finger protein, and overlapping antisense transcript in the Prader-Willi syndrome critical region
MTC Jong, TA Gray, Y Ji, CC Glenn, S Saitoh, DJ Driscoll, RD Nicholls
Human molecular genetics 8 (5), 783-793, 1999
2771999
Mutations of the FHL1 gene cause Emery-Dreifuss muscular dystrophy
L Gueneau, AT Bertrand, JP Jais, MA Salih, T Stojkovic, M Wehnert, ...
The American Journal of Human Genetics 85 (3), 338-353, 2009
2452009
An imprinted, mammalian bicistronic transcript encodes two independent proteins
TA Gray, S Saitoh, RD Nicholls
Proceedings of the National Academy of Sciences 96 (10), 5616-5621, 1999
2161999
A longer polyalanine expansion mutation in the ARX gene causes early infantile epileptic encephalopathy with suppression-burst pattern (Ohtahara syndrome)
M Kato, S Saitoh, A Kamei, H Shiraishi, Y Ueda, M Akasaka, J Tohyama, ...
The American Journal of Human Genetics 81 (2), 361-366, 2007
2102007
Minimal definition of the imprinting center and fixation of chromosome 15q11-q13 epigenotype by imprinting mutations.
S Saitoh, K Buiting, PK Rogan, JL Buxton, DJ Driscoll, J Arnemann, ...
Proceedings of the National Academy of Sciences 93 (15), 7811-7815, 1996
2011996
Molecular dissection of the Prader-Willi/Angelman syndrome region (15q11–13) by YAC cloning and FISH analysis
A Kuwano, A Mutirangura, B Dittrich, B Horsthemke, S Saitoh, N Nikawa, ...
Human Molecular Genetics 1 (6), 417-425, 1992
1981992
A novel maternally expressed gene, ATP10C, encodes a putative aminophospholipid translocase associated with Angelman syndrome
M Meguro, A Kashiwagi, K Mitsuya, M Nakao, I Kondo, S Saitoh, ...
Nature genetics 28 (1), 19-20, 2001
1842001
Dominant-negative mutations in α-II spectrin cause West syndrome with severe cerebral hypomyelination, spastic quadriplegia, and developmental delay
H Saitsu, J Tohyama, T Kumada, K Egawa, K Hamada, I Okada, ...
The American Journal of Human Genetics 86 (6), 881-891, 2010
1762010
Phenotypic Spectrum of COL4A1 Mutations: Porencephaly to Schizencephaly
Y Yoneda, K Haginoya, M Kato, H Osaka, K Yokochi, H Arai, A Kakita, ...
Annals of neurology 73 (1), 48-57, 2013
1742013
Integrative analyses of de novo mutations provide deeper biological insights into autism spectrum disorder
A Takata, N Miyake, Y Tsurusaki, R Fukai, S Miyatake, E Koshimizu, ...
Cell reports 22 (3), 734-747, 2018
1602018
Decreased tonic inhibition in cerebellar granule cells causes motor dysfunction in a mouse model of Angelman syndrome
K Egawa, K Kitagawa, K Inoue, M Takayama, C Takayama, S Saitoh, ...
Science translational medicine 4 (163), 163ra157-163ra157, 2012
1302012
Clinical spectrum and molecular diagnosis of Angelman and Prader‐Willi syndrome patients with an imprinting mutation
S Saitoh, K Buiting, SB Cassidy, JM Conroy, DJ Driscoll, JM Gabriel, ...
American journal of medical genetics 68 (2), 195-206, 1997
1271997
Familial Angelman syndrome caused by imprinted submicroscopic deletion encompassing GABAA receptor β3-subunit gene
S Saitoh, T Kubota, T Ohta, Y Jinno, N Niikawa, T Sugimoto, J Wagstaff, ...
The Lancet 339 (8789), 366-367, 1992
1201992
Temple syndrome: comprehensive molecular and clinical findings in 32 Japanese patients
M Kagami, K Nagasaki, R Kosaki, R Horikawa, Y Naiki, S Saitoh, T Tajima, ...
Genetics in Medicine 19 (12), 1356-1366, 2017
1122017
現在システムで処理を実行できません。しばらくしてからもう一度お試しください。
論文 1–20