Predicting the pathogenicity of NKX2-1 and IGSF1 variants with in silico bioinformatic tools

od Narumi, Satoshi
Wydane w Clin Pediatr Endocrinol (2020)

Methylome analysis of thyroid ectopy shows no disease-specific DNA methylation signature

od Narumi, Satoshi, Matsubara, Keiko, Ishii, Tomohiro, Hasegawa, Tomonobu
Wydane w Clin Pediatr Endocrinol (2018)

Quantitative and Sensitive Detection of GNAS Mutations Causing McCune-Albright Syndrome with Next Generation Sequencing

od Narumi, Satoshi, Matsuo, Kumihiro, Ishii, Tomohiro, Tanahashi, Yusuke, Hasegawa, Tomonobu
Wydane 2013

A Novel Mutation of Androgen Receptor Gene in Complete Androgen Insensitivity Syndrome

od Narumi, Satoshi, Amano, Naoko, Hachiya, Rumi, Ishii, Tomohiro, Hasegawa, Tomonobu
Wydane 2007

A novel KAL1 mutation is associated with combined pituitary hormone deficiency

od Takagi, Masaki, Narumi, Satoshi, Hamada, Riku, Hasegawa, Yukihiro, Hasegawa, Tomonobu
Wydane w Hum Genome Var (2014)

Syndromic disorder of sex development due to a novel hemizygous mutation in the carboxyl-terminal domain of ATRX

od Takagi, Masaki, Yagi, Hiroko, Fukuzawa, Ryuji, Narumi, Satoshi, Hasegawa, Tomonobu
Wydane w Hum Genome Var (2017)

A novel NPR2 mutation (p.Arg388Gln) in a patient with acromesomelic dysplasia, type Maroteaux

od Amano, Naoko, Kitoh, Hiroshi, Narumi, Satoshi, Nishimura, Gen, Hasegawa, Tomonobu
Wydane w Clin Pediatr Endocrinol (2020)

Growth Failure in an Infant with Congenital Nephrogenic Diabetes Insipidus During Sodium Restriction

od Sasaki, Goro, Ishii, Tomohiro, Amano, Naoko, Hachiya, Rumi, Narumi, Satoshi, Hasegawa, Tomonobu
Wydane 2007

A novel mutation of the THRB gene in a Japanese family with resistance to thyroid hormone

od Ito, Jumpei, Narumi, Satoshi, Nishizawa, Kazumichi, Kamimaki, Tsutomu, Hori, Naoaki, Hasegawa, Tomonobu
Wydane w Clin Pediatr Endocrinol (2016)

Identification of compound heterozygous TSHR mutations (R109Q and R450H) in a patient with nonclassic TSH resistance and functional characterization of the mutant receptors

od Sugisawa, Chiho, Abe, Kiyomi, Sunaga, Yuka, Taniyama, Matsuo, Hasegawa, Tomonobu, Narumi, Satoshi
Wydane w Clin Pediatr Endocrinol (2018)

An association with hypopituitarism and 9q subtelomere deletion syndrome

od Higuchi, Shinji, Takagi, Masaki, Takeda, Ryojun, Yoshihashi, Hiroshi, Narumi, Satoshi, Hasegawa, Tomonobu
Wydane w Clin Case Rep (2018)

Identification and functional characterization of a novel PAX8 mutation (p.His39Pro) causing familial thyroid hypoplasia

od Iwahashi-Odano, Megumi, Fujisawa, Yasuko, Ogata, Tsutomu, Nakashima, Shinichi, Muramatsu, Mayumi, Narumi, Satoshi
Wydane w Clin Pediatr Endocrinol (2020)

Evaluating the seasonality of growth in infants using a mobile phone application

od Narumi, Satoshi, Ohnuma, Tetsu, Takehara, Kenji, Morisaki, Naho, Urayama, Kevin Y., Hattori, Tomoyuki
Wydane w NPJ Digit Med (2020)

One Novel and Two Recurrent THRB Mutations Associated with Resistance to Thyroid Hormone: Structure-based Computational Mutation Prediction

od Narumi, Satoshi, Cho, Hideo, Tamada, Izumi, Kozu, Yuki, Tsuchiya, Takayoshi, Nagai, Toshiro, Hasegawa, Tomonobu
Wydane 2010

A patient with pseudohypoaldosteronism type II complicated by congenital hypopituitarism carrying a KLHL3 mutation

od Mitani, Marie, Furuichi, Munehiro, Narumi, Satoshi, Hasegawa, Tomonobu, Chiga, Motoko, Uchida, Shinichi, Sato, Seiji
Wydane w Clin Pediatr Endocrinol (2016)

The case of a patient with MIRAGE syndrome with familial dysautonomia-like symptoms

od Kawashima-Sonoyama, Yuki, Okuno, Keisuke, Dohmoto, Tomotsune, Tanase-Nakao, Kanako, Narumi, Satoshi, Namba, Noriyuki
Wydane w Hum Genome Var (2021)

Combined pituitary hormone deficiency with unique pituitary dysplasia and morning glory syndrome related to a heterozygous PROKR2 mutation

od Asakura, Yumi, Muroya, Koji, Hanakawa, Junko, Sato, Takeshi, Aida, Noriko, Narumi, Satoshi, Hasegawa, Tomonobu, Adachi, Masanori
Wydane w Clin Pediatr Endocrinol (2015)

A case of 3 months old Japanese boy with sporadic congenital none-autoimmune hyperthyroidism

od Kinjo, Saori, Kanno, Masayuki, Matayoshi, Kei, Takefuta, Kiyotaka, Izumi, Ayako, Sugisawa, Chiho, Narumi, Satoshi, Kohama, Moriyasu
Wydane w Int J Pediatr Endocrinol (2015)

GATA4 mutations are uncommon in patients with 46,XY disorders of sex development without heart anomaly

od Igarashi, Maki, Mizuno, Kentaro, Kon, Masafumi, Narumi, Satoshi, Kojima, Yoshiyuki, Hayashi, Yutaro, Ogata, Tsutomu, Fukami, Maki
Wydane w Asian J Androl (2018)

MIRAGE syndrome with recurrent pneumonia probably associated with gastroesophageal reflux and achalasia: A case report

od Yoshizaki, Kanako, Hachiya, Rumi, Tomobe, Yutaro, Kaku, Uiko, Akiba, Kazuhisa, Shima, Hirohito, Narumi, Satoshi, Hasegawa, Yukihiro
Wydane w Clin Pediatr Endocrinol (2019)