Result Number | Material Type | Add to My Shelf Action | Record Details and Options |
---|---|---|---|
1 |
Material Type: Artigo
|
Temple syndrome: comprehensive molecular and clinical findings in 32 Japanese patientsKagami, Masayo ; Nagasaki, Keisuke ; Kosaki, Rika ; Horikawa, Reiko ; Naiki, Yasuhiro ; Saitoh, Shinji ; Tajima, Toshihiro ; Yorifuji, Tohru ; Numakura, Chikahiko ; Mizuno, Seiji ; Nakamura, Akie ; Matsubara, Keiko ; Fukami, Maki ; Ogata, TsutomuGenetics in medicine, 2017-12, Vol.19 (12), p.1356-1366 [Periódico revisado por pares]Nature Publishing GroupSem texto completo |
|
2 |
Material Type: Artigo
|
Genome-wide multilocus imprinting disturbance analysis in Temple syndrome and Kagami-Ogata syndromeKagami, Masayo ; Matsubara, Keiko ; Nakabayashi, Kazuhiko ; Nakamura, Akie ; Sano, Shinichiro ; Okamura, Kohji ; Hata, Kenichiro ; Fukami, Maki ; Ogata, TsutomuGenetics in medicine, 2017-04, Vol.19 (4), p.476-482 [Periódico revisado por pares]United States: Elsevier IncSem texto completo |
|
3 |
Material Type: Artigo
|
Genome-wide methylation analysis in Silver-Russell syndrome, Temple syndrome, and Prader-Willi syndromeHara-Isono, Kaori ; Matsubara, Keiko ; Fuke, Tomoko ; Yamazawa, Kazuki ; Satou, Kazuhito ; Murakami, Nobuyuki ; Saitoh, Shinji ; Nakabayashi, Kazuhiko ; Hata, Kenichiro ; Ogata, Tsutomu ; Fukami, Maki ; Kagami, MasayoClinical epigenetics, 2020-10, Vol.12 (1), p.159-159, Article 159 [Periódico revisado por pares]Germany: BioMed Central LtdTexto completo disponível |
|
4 |
Material Type: Artigo
|
ZNF445: a homozygous truncating variant in a patient with Temple syndrome and multilocus imprinting disturbanceKagami, Masayo ; Hara-Isono, Kaori ; Matsubara, Keiko ; Nakabayashi, Kazuhiko ; Narumi, Satoshi ; Fukami, Maki ; Ohkubo, Yumiko ; Saitsu, Hirotomo ; Takada, Shuji ; Ogata, TsutomuClinical epigenetics, 2021-05, Vol.13 (1), p.119-119, Article 119 [Periódico revisado por pares]Germany: BioMed Central LtdTexto completo disponível |
|
5 |
Material Type: Artigo
|
Temple syndrome in a patient with variably methylated CpGs at the primary MEG3/DLK1:IG-DMR and severely hypomethylated CpGs at the secondary MEG3:TSS-DMRKagami, Masayo ; Yanagisawa, Atsuhiro ; Ota, Miyuki ; Matsuoka, Kentaro ; Nakamura, Akie ; Matsubara, Keiko ; Nakabayashi, Kazuhiko ; Takada, Shuji ; Fukami, Maki ; Ogata, TsutomuClinical epigenetics, 2019-03, Vol.11 (1), p.42-42, Article 42 [Periódico revisado por pares]Germany: BioMed Central LtdTexto completo disponível |
|
6 |
Material Type: Artigo
|
Temple syndrome diagnosed in an adult patient with clinical autism spectrum disorderKimura, Takuro ; Kagami, Masayo ; Matsubara, Keiko ; Yatsuga, Shuichi ; Mukasa, Rio ; Yatsuga, Chiho ; Matsumoto, Takako ; Koga, YasutoshiClinical case reports, 2019-01, Vol.7 (1), p.15-18 [Periódico revisado por pares]England: John Wiley & Sons, IncTexto completo disponível |