Early Onset of Liver Steatosis in a Japanese Girl with Maturity-Onset Diabetes of the Young Type 3 (MODY3)

af Nakamura, Akie, İshidu, Katsura, Tajima, Toshihiro
Udgivet 2012

Molecular and Clinical Findings in Patients with LHX4 and OTX2 Mutations

af Tajima, Toshihiro, Ishizu, Katsura, Nakamura, Akie
Udgivet 2013

Clinical features and molecular basis of pseudohypoaldosteronism type 1

af Tajima, Toshihiro, Morikawa, Shuntaro, Nakamura, Akie
Udgivet i Clin Pediatr Endocrinol (2017)

Neonatal screening and a new cause of congenital central hypothyroidism

af Tajima, Toshihiro, Nakamura, Akie, Morikawa, Shuntaro, Ishizu, Katsura
Udgivet 2014

Recent advances in research on isolated congenital central hypothyroidism

af Tajima, Toshihiro, Nakamura, Akie, Oguma, Makiko, Yamazaki, Masayo
Udgivet i Clin Pediatr Endocrinol (2019)

A Novel Splicing Mutation of the GNAS Gene in a Patient with Pseudohypoparathyroidism Ia

af Nakamura, Akie, Hostubo, Tomoyuki, Jo, Wakako, Ishizu, Katsura, Tajima, Toshihiro
Udgivet 2011

A Novel De Novo GATA Binding Protein 3 Mutation in a Turkish Boy with Hypoparathyroidism, Deafness, and Renal Dysplasia Syndrome

af Yeşiltepe Mutlu, Gül, Kırmızıbekmez, Heves, Nakamura, Akie, Fukami, Maki, Hatun, Şükrü
Udgivet i J Clin Res Pediatr Endocrinol (2015)

Long-Term Effect of Aromatase Inhibition in Aromatase Excess Syndrome

af Binder, Gerhard, Nakamura, Akie, Schweizer, Roland, Ogata, Tsutomu, Fukami, Maki, Nagasaki, Keisuke
Udgivet i J Endocr Soc (2021)

Nephrocalcinosis and Placental Findings in Neonatal Bartter Syndrome

af Maruyama, Hidehiko, Shinno, Yoko, Fujiwara, Kaori, Nakamura, Akie, Tajima, Toshihiro, Nakamura, Makoto, Kageyama, Misao
Udgivet 2012

Development of Endometrial Carcinoma in a Patient with Leprechaunism (Donohue Syndrome)

af Jo, Wakako, Sudo, Satoko, Nakamura, Akie, Endo, Daisuke, Konno, Yosuke, Ishizu, Katsura, Tajima, Toshihiro
Udgivet 2013

Results from 28 years of newborn screening for congenital adrenal hyperplasia in Sapporo City

af Ishizu, Katsura, Nakamura, Akie, Fujikura, Kaori, Fukushi, Masaru, Hotsubo, Tomoyuki, Sasaki, Taiko, Tajima, Toshihiro
Udgivet 2013

(Epi)genotype-Phenotype Analysis in 69 Japanese Patients With Pseudohypoparathyroidism Type I

af Sano, Shinichiro, Nakamura, Akie, Matsubara, Keiko, Nagasaki, Keisuke, Fukami, Maki, Kagami, Masayo, Ogata, Tsutomu
Udgivet i J Endocr Soc (2017)

Results from 28 Years of Newborn Screening for Congenital Adrenal Hyperplasia in Sapporo

af Morikawa, Shuntaro, Nakamura, Akie, Fujikura, Kaori, Fukushi, Masaru, Hotsubo, Tomoyuki, Miyata, Jun, Ishizu, Katsura, Tajima, Toshihiro
Udgivet 2014

Silver–Russell syndrome in a patient with somatic mosaicism for upd(11)mat identified by buccal cell analysis

af Luk, Ho‐Ming, Ivan Lo, Fai‐Man, Sano, Shinichiro, Matsubara, Keiko, Nakamura, Akie, Ogata, Tsutomu, Kagami, Masayo
Udgivet i Am J Med Genet A (2016)

Four Japanese Patients with Congenital Nephrogenic Diabetes Insipidus due to the AVPR2 Mutations

af Namatame-Ohta, Noriko, Morikawa, Shuntaro, Nakamura, Akie, Matsuo, Kumihiro, Nakajima, Masahide, Tomizawa, Kazuhiro, Tanahashi, Yusuke, Tajima, Toshihiro
Udgivet i Case Rep Pediatr (2018)

Three Japanese patients with congenital pituitary hormone deficiency and ophthalmological anomalies

af Takanashi, Kuniko, Suzuki, Yashuto, Noro, Ayumu, Sugiyama, Minako, Nakanishi, Masanori, Nagashima, Tetsuro, Nakamura, Akie, Katsura, Ishizu, Tajima, Toshihiro
Udgivet 2011

Genome-wide multilocus imprinting disturbance analysis in Temple syndrome and Kagami-Ogata syndrome

af Kagami, Masayo, Matsubara, Keiko, Nakabayashi, Kazuhiko, Nakamura, Akie, Sano, Shinichiro, Okamura, Kohji, Hata, Kenichiro, Fukami, Maki, Ogata, Tsutomu
Udgivet i Genet Med (2017)

Polyarthritis Caused by Methimazole in Two Japanese Patients with Graves’ Disease

af Nihei, Hiroko, Tada, Hidenori, Naruse, Yuki, Izawa, Masako, Kato, Manji, Okuno, Hiroaki, Nakamura, Akie, Ishizu, Katsura, Hamajima, Takashi, Tajima, Toshihiro
Udgivet 2013

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

af Kagami, Masayo, Yanagisawa, Atsuhiro, Ota, Miyuki, Matsuoka, Kentaro, Nakamura, Akie, Matsubara, Keiko, Nakabayashi, Kazuhiko, Takada, Shuji, Fukami, Maki, Ogata, Tsutomu
Udgivet i Clin Epigenetics (2019)

SOX10 Mutation Screening for 117 Patients with Kallmann Syndrome

af Shima, Hirohito, Tokuhiro, Etsuro, Okamoto, Shingo, Nagamori, Mariko, Ogata, Tsutomu, Narumi, Satoshi, Nakamura, Akie, Izumi, Yoko, Jinno, Tomoko, Suzuki, Erina, Fukami, Maki
Udgivet i J Endocr Soc (2021)