A commentary on ANKRD11 variants cause variable clinical features associated with KBG syndrome and Coffin–Siris-like syndrome

por Kaname, Tadashi, Yanagi, Kumiko
Publicado 2017

X-linked mental retardation and severe short stature with a novel mutation of the KDM5C gene

por Kawano-Matsuda, Fumika, Maeda, Tomoki, Kaname, Tadashi, Yanagi, Kumiko, Ihara, Kenji
Publicado 2021

Identification of Four Novel Synonymous Substitutions in the X-Linked Genes Neuroligin 3 and Neuroligin 4X in Japanese Patients with Autistic Spectrum Disorder

por Yanagi, Kumiko, Kaname, Tadashi, Wakui, Keiko, Hashimoto, Ohiko, Fukushima, Yoshimitsu, Naritomi, Kenji
Publicado 2012

Clinical characteristics with long-term follow-up of four Okinawan families with moderate hearing loss caused by an OTOG variant

por Ganaha, Akira, Kaname, Tadashi, Yanagi, Kumiko, Tono, Tetsuya, Higa, Teruyuki, Suzuki, Mikio
Publicado 2019

Hereditary leiomyomatosis and renal cell cancer (HLRCC): A case report

por Yonamine, Tomoko, Kaname, Tadashi, Chinen, Yasutsugu, Tamashiro, Kouichi, Kosuge, Noritake, Saito, Seiichi
Publicado 2020

Rapid Genetic Diagnosis for Okinawan Patients with Enlarged Vestibular Aqueduct Using Single-Stranded Tag Hybridization Chromatographic Printed-Array Strip

por Ganaha, Akira, Hishinuma, Eiji, Kaname, Tadashi, Hiratsuka, Masahiro, Kondo, Shunsuke, Tono, Tetsuya
Publicado 2022

Expanding the PURA syndrome phenotype with manifestations in a Japanese female patient

por Fukuda, Yuya, Kudo, Yoshimasa, Saito, Makoto, Kaname, Tadashi, Oota, Tohru, Shoji, Reikichi
Publicado 2022

Deep intronic deletion in intron 3 of PLP1 is associated with a severe phenotype of Pelizaeus-Merzbacher disease

por Yamamoto-Shimojima, Keiko, Akagawa, Hiroyuki, Yanagi, Kumiko, Kaname, Tadashi, Okamoto, Nobuhiko, Yamamoto, Toshiyuki
Publicado 2021

Pathogenic substitution of IVS15 + 5G > A in SLC26A4 in patients of Okinawa Islands with enlarged vestibular aqueduct syndrome or Pendred syndrome

por Ganaha, Akira, Kaname, Tadashi, Yanagi, Kumiko, Naritomi, Kenji, Tono, Tetsuya, Usami, Shin-ichi, Suzuki, Mikio
Publicado 2013

Stimulator of Interferon Genes-associated Vasculopathy with an Onset in Infancy Diagnosed after the Development of Atypical Pulmonary Lesions During Treatment as Juvenile Idiopathi...

por Nishida, Tomoya, Nakano, Kazuhisa, Inoue, Yoshino, Narumi-Kishimoto, Yoko, Kaname, Tadashi, Akashi, Koichi, Tanaka, Yoshiya
Publicado 2020

Genitopatellar syndrome: the first reported case in Japan

por Okano, Satomi, Miyamoto, Akie, Fukuda, Ikue, Tanaka, Hajime, Hata, Kenichiro, Kaname, Tadashi, Matsubara, Yoichi, Makita, Yoshio
Publicado 2018

A novel nonsense SMC1A mutation in a patient with intractable epilepsy and cardiac malformation

por Chinen, Yasutsugu, Nakamura, Sadao, Kaneshi, Takuya, Nakayashiro, Mami, Yanagi, Kumiko, Kaname, Tadashi, Naritomi, Kenji, Nakanishi, Koichi
Publicado 2019

A novel missense variant of the GNAI3 gene and recognisable morphological characteristics of the mandibula in ARCND1

por Yanagi, Kumiko, Morimoto, Noriko, Iso, Manami, Abe, Yukimi, Okamura, Kohji, Nakamura, Tomoo, Matsubara, Yoichi, Kaname, Tadashi
Publicado 2021

Novel NARS2 variant causing leigh syndrome with normal lactate levels

por Tanaka, Ryosuke, Takeguchi, Ryo, Kuroda, Mami, Suzuki, Nao, Makita, Yoshio, Yanagi, Kumiko, Kaname, Tadashi, Takahashi, Satoru
Publicado 2022

Impact of brown rice-specific γ-oryzanol on epigenetic modulation of dopamine D2 receptors in brain striatum in high-fat-diet-induced obesity in mice

por Kozuka, Chisayo, Kaname, Tadashi, Shimizu-Okabe, Chigusa, Takayama, Chitoshi, Tsutsui, Masato, Matsushita, Masayuki, Abe, Keiko, Masuzaki, Hiroaki
Publicado 2017

HIST1H1E syndrome with deficiency in multiple pituitary hormones

por Tanabe, Yuko, Nomura, Naohiro, Minami, Miki, Takaya, Junji, Okamoto, Nobuhiko, Yanagi, Kumiko, Kaname, Tadashi, Fujii, Yoshimitsu, Kaneko, Kazunari
Publicado 2023

Mild prominence of the Sylvian fissure in a Bainbridge‐Ropers syndrome patient with a novel frameshift variant in ASXL3

por Chinen, Yasutsugu, Nakamura, Sadao, Ganaha, Akira, Hayashi, Shin, Inazawa, Johji, Yanagi, Kumiko, Nakanishi, Koichi, Kaname, Tadashi, Naritomi, Kenji
Publicado 2017

The CFTR gene variants in Japanese children with idiopathic pancreatitis

por Iso, Manami, Suzuki, Mitsuyoshi, Yanagi, Kumiko, Minowa, Kei, Sakurai, Yumiko, Nakano, Satoshi, Satou, Kazuhito, Shimizu, Toshiaki, Kaname, Tadashi
Publicado 2019

A novel homozygous missense SLC25A20 mutation in three CACT-deficient patients: clinical and autopsy data

por Chinen, Yasutsugu, Yanagi, Kumiko, Nakamura, Sadao, Nakayama, Noriko, Kamiya, Motoko, Nakayashiro, Mami, Kaname, Tadashi, Naritomi, Kenji, Nakanishi, Koichi
Publicado 2020

GRIA3 p.Met661Thr variant in a female with developmental epileptic encephalopathy

por Okano, Satomi, Makita, Yoshio, Miyamoto, Akie, Taketazu, Genya, Kimura, Kayano, Fukuda, Ikue, Tanaka, Hajime, Yanagi, Kumiko, Kaname, Tadashi
Publicado 2023