Zoekresultaten - Matsubara, Keiko

Uniparental disomy as a cause of pediatric endocrine disorders door Matsubara, Keiko, Kagami, Masayo, Fukami, Maki

Volledige tekst Volledige tekst Volledige tekst

Methylome analysis of thyroid ectopy shows no disease-specific DNA methylation signature door Narumi, Satoshi, Matsubara, Keiko, Ishii, Tomohiro, Hasegawa, Tomonobu

Volledige tekst Volledige tekst Volledige tekst

De Novo Small Supernumerary Marker Chromosomes Arising From Partial Trisomy Rescue door Matsubara, Keiko, Yanagida, Kaede, Nagai, Toshiro, Kagami, Masayo, Fukami, Maki

Volledige tekst Volledige tekst Volledige tekst

Relative frequency of underlying genetic causes for the development of UPD(14)pat-like phenotype door Kagami, Masayo, Kato, Fumiko, Matsubara, Keiko, Sato, Tomoko, Nishimura, Gen, Ogata, Tsutomu

Volledige tekst Volledige tekst Volledige tekst

Exploration of hydroxymethylation in Kagami-Ogata syndrome caused by hypermethylation of imprinting control regions door Matsubara, Keiko, Kagami, Masayo, Nakabayashi, Kazuhiko, Hata, Kenichiro, Fukami, Maki, Ogata, Tsutomu, Yamazawa, Kazuki

Volledige tekst Volledige tekst Volledige tekst

(Epi)genotype-Phenotype Analysis in 69 Japanese Patients With Pseudohypoparathyroidism Type I door Sano, Shinichiro, Nakamura, Akie, Matsubara, Keiko, Nagasaki, Keisuke, Fukami, Maki, Kagami, Masayo, Ogata, Tsutomu

Volledige tekst Volledige tekst Volledige tekst

Molecular and Functional Analyses of the Gene (eshA) Encoding the 52-Kilodalton Protein of Streptomyces coelicolor A3(2) Required for Antibiotic Production door Kawamoto, Shinichi, Watanabe, Masakatsu, Saito, Natsumi, Hesketh, Andrew, Vachalova, Katerina, Matsubara, Keiko, Ochi, Kozo

Volledige tekst Volledige tekst Volledige tekst

Assisted reproductive technology represents a possible risk factor for development of epimutation-mediated imprinting disorders for mothers aged ≥ 30 years door Hara-Isono, Kaori, Matsubara, Keiko, Mikami, Masashi, Arima, Takahiro, Ogata, Tsutomu, Fukami, Maki, Kagami, Masayo

Volledige tekst Volledige tekst Volledige tekst

Epimutations of the IG-DMR and the MEG3-DMR at the 14q32.2 imprinted region in two patients with Silver–Russell Syndrome-compatible phenotype door Kagami, Masayo, Mizuno, Seiji, Matsubara, Keiko, Nakabayashi, Kazuhiko, Sano, Shinichiro, Fuke, Tomoko, Fukami, Maki, Ogata, Tsutomu

Volledige tekst Volledige tekst Volledige tekst

Temple syndrome diagnosed in an adult patient with clinical autism spectrum disorder door Kimura, Takuro, Kagami, Masayo, Matsubara, Keiko, Yatsuga, Shuichi, Mukasa, Rio, Yatsuga, Chiho, Matsumoto, Takako, Koga, Yasutoshi

Volledige tekst Volledige tekst Volledige tekst

Coffin‐Lowry syndrome in a girl with 46,XX,t(X;11)(p22;p15)dn: Identification of RPS6KA3 disruption by whole genome sequencing door Yamoto, Kaori, Saitsu, Hirotomo, Fujisawa, Yasuko, Kato, Fumiko, Matsubara, Keiko, Fukami, Maki, Kagami, Masayo, Ogata, Tsutomu

Volledige tekst Volledige tekst Volledige tekst

Silver–Russell syndrome in a patient with somatic mosaicism for upd(11)mat identified by buccal cell analysis door Luk, Ho‐Ming, Ivan Lo, Fai‐Man, Sano, Shinichiro, Matsubara, Keiko, Nakamura, Akie, Ogata, Tsutomu, Kagami, Masayo

Volledige tekst Volledige tekst Volledige tekst

Genome-wide multilocus imprinting disturbance analysis in Temple syndrome and Kagami-Ogata syndrome door Kagami, Masayo, Matsubara, Keiko, Nakabayashi, Kazuhiko, Nakamura, Akie, Sano, Shinichiro, Okamura, Kohji, Hata, Kenichiro, Fukami, Maki, Ogata, Tsutomu

Volledige tekst Volledige tekst Volledige tekst

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-DMR door Kagami, Masayo, Yanagisawa, Atsuhiro, Ota, Miyuki, Matsuoka, Kentaro, Nakamura, Akie, Matsubara, Keiko, Nakabayashi, Kazuhiko, Takada, Shuji, Fukami, Maki, Ogata, Tsutomu

Volledige tekst Volledige tekst Volledige tekst

Methylation status of genes escaping from X-chromosome inactivation in patients with X-chromosome rearrangements door Kawashima, Sayaka, Hattori, Atsushi, Suzuki, Erina, Matsubara, Keiko, Toki, Machiko, Kosaki, Rika, Hasegawa, Yukihiro, Nakabayashi, Kazuhiko, Fukami, Maki, Kagami, Masayo

Volledige tekst Volledige tekst Volledige tekst

Transient multifocal genomic crisis creating chromothriptic and non-chromothriptic rearrangements in prezygotic testicular germ cells door Hattori, Atsushi, Okamura, Kohji, Terada, Yumiko, Tanaka, Rika, Katoh-Fukui, Yuko, Matsubara, Yoichi, Matsubara, Keiko, Kagami, Masayo, Horikawa, Reiko, Fukami, Maki

Volledige tekst Volledige tekst Volledige tekst

ZNF445: a homozygous truncating variant in a patient with Temple syndrome and multilocus imprinting disturbance door Kagami, Masayo, Hara-Isono, Kaori, Matsubara, Keiko, Nakabayashi, Kazuhiko, Narumi, Satoshi, Fukami, Maki, Ohkubo, Yumiko, Saitsu, Hirotomo, Takada, Shuji, Ogata, Tsutomu

Volledige tekst Volledige tekst Volledige tekst

Exploring the unique function of imprinting control centers in the PWS/AS-responsible region: finding from array-based methylation analysis in cases with variously sized microdelet... door Matsubara, Keiko, Itoh, Masatsune, Shimizu, Kenji, Saito, Shinji, Enomoto, Keisuke, Nakabayashi, Kazuhiko, Hata, Kenichiro, Kurosawa, Kenji, Ogata, Tsutomu, Fukami, Maki, Kagami, Masayo

Volledige tekst Volledige tekst Volledige tekst

Role of Imprinting Disorders in Short Children Born SGA and Silver-Russell Syndrome Spectrum door Fuke, Tomoko, Nakamura, Akie, Inoue, Takanobu, Kawashima, Sayaka, Hara, Kaori Isono, Matsubara, Keiko, Sano, Shinichiro, Yamazawa, Kazuki, Fukami, Maki, Ogata, Tsutomu, Kagami, Masayo

Volledige tekst Volledige tekst Volledige tekst

Genome-wide methylation analysis in Silver–Russell syndrome, Temple syndrome, and Prader–Willi syndrome door Hara-Isono, Kaori, Matsubara, Keiko, Fuke, Tomoko, Yamazawa, Kazuki, Satou, Kazuhito, Murakami, Nobuyuki, Saitoh, Shinji, Nakabayashi, Kazuhiko, Hata, Kenichiro, Ogata, Tsutomu, Fukami, Maki, Kagami, Masayo

Volledige tekst Volledige tekst Volledige tekst