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

por Narumi, Satoshi
Publicado 2020

A case of syndromic congenital hypothyroidism with a 15.2 Mb interstitial deletion on 2q12.3q14.2 involving PAX8

por Iwahashi-Odano, Megumi, Kitamura, Miyuki, Narumi, Satoshi
Publicado 2022

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

por Narumi, Satoshi, Matsubara, Keiko, Ishii, Tomohiro, Hasegawa, Tomonobu
Publicado 2018

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

por Narumi, Satoshi, Matsuo, Kumihiro, Ishii, Tomohiro, Tanahashi, Yusuke, Hasegawa, Tomonobu
Publicado 2013

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

por Narumi, Satoshi, Amano, Naoko, Hachiya, Rumi, Ishii, Tomohiro, Hasegawa, Tomonobu
Publicado 2007

A novel KAL1 mutation is associated with combined pituitary hormone deficiency

por Takagi, Masaki, Narumi, Satoshi, Hamada, Riku, Hasegawa, Yukihiro, Hasegawa, Tomonobu
Publicado 2014

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

por Takagi, Masaki, Yagi, Hiroko, Fukuzawa, Ryuji, Narumi, Satoshi, Hasegawa, Tomonobu
Publicado 2017

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

por Amano, Naoko, Kitoh, Hiroshi, Narumi, Satoshi, Nishimura, Gen, Hasegawa, Tomonobu
Publicado 2020

Acquired uniparental disomy of chromosome 7 in a patient with MIRAGE syndrome that veiled a pathogenic SAMD9 variant

por Tanase-Nakao, Kanako, Kawai, Masanobu, Wada, Kazuko, Kagami, Masayo, Narumi, Satoshi
Publicado 2021

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

por Sasaki, Goro, Ishii, Tomohiro, Amano, Naoko, Hachiya, Rumi, Narumi, Satoshi, Hasegawa, Tomonobu
Publicado 2007

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

por Ito, Jumpei, Narumi, Satoshi, Nishizawa, Kazumichi, Kamimaki, Tsutomu, Hori, Naoaki, Hasegawa, Tomonobu
Publicado 2016

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

por Sugisawa, Chiho, Abe, Kiyomi, Sunaga, Yuka, Taniyama, Matsuo, Hasegawa, Tomonobu, Narumi, Satoshi
Publicado 2018

An association with hypopituitarism and 9q subtelomere deletion syndrome

por Higuchi, Shinji, Takagi, Masaki, Takeda, Ryojun, Yoshihashi, Hiroshi, Narumi, Satoshi, Hasegawa, Tomonobu
Publicado 2018

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

por Iwahashi-Odano, Megumi, Fujisawa, Yasuko, Ogata, Tsutomu, Nakashima, Shinichi, Muramatsu, Mayumi, Narumi, Satoshi
Publicado 2020

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

por Narumi, Satoshi, Ohnuma, Tetsu, Takehara, Kenji, Morisaki, Naho, Urayama, Kevin Y., Hattori, Tomoyuki
Publicado 2020

A patient with congenital hypothyroidism due to a PAX8 frameshift variant accompanying a urogenital malformation

por Tanase-Nakao, Kanako, Muroya, Koji, Adachi, Masanori, Abe, Kiyomi, Hasegawa, Tomonobu, Narumi, Satoshi
Publicado 2022

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

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

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

por Mitani, Marie, Furuichi, Munehiro, Narumi, Satoshi, Hasegawa, Tomonobu, Chiga, Motoko, Uchida, Shinichi, Sato, Seiji
Publicado 2016

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

por Kawashima-Sonoyama, Yuki, Okuno, Keisuke, Dohmoto, Tomotsune, Tanase-Nakao, Kanako, Narumi, Satoshi, Namba, Noriyuki
Publicado 2021

High-dose fludrocortisone therapy was transiently required in a female neonate with 21-hydroxylase deficiency

por Kawasaki, Yusuke, Sato, Takeshi, Nakano, Satsuki, Usui, Takeshi, Narumi, Satoshi, Ishii, Tomohiro, Hasegawa, Tomonobu
Publicado 2022