Pathophysiological Investigation of Skeletal Deformities of Musculocontractural Ehlers–Danlos Syndrome Using Induced Pluripotent Stem Cells

por Yue, Fengming, Era, Takumi, Yamaguchi, Tomomi, Kosho, Tomoki
Publicado 2023

Severe Hypoxemia Caused by High-Output Heart Failure and Pulmonary Arteriovenous Malformations in Hereditary Hemorrhagic Telangiectasia

por Yamamoto, Hiroaki, Itamoto, Chieko, Yamaguchi, Tomomi, Koshyo, Tomoki
Publicado 2021

Case report: Mild phenotype of a patient with vascular Ehlers–Danlos syndrome and COL3A1 duplication mutation without alteration in the [Gly-X-Y] repeat sequence

por Hayashi, Shujiro, Yamaguchi, Tomomi, Kosho, Tomoki, Igawa, Ken
Publicado 2022

Intrafamilial phenotypic variation in spinocerebellar ataxia type 23

por Satoh, Shunichi, Kondo, Yasufumi, Ohara, Shinji, Yamaguchi, Tomomi, Nakamura, Katsuya, Yoshida, Kunihiro
Publicado 2020

Severe Cerebral Small Vessel Disease Caused by the Uniallelic p.A252T Variant of HTRA1

por Kondo, Yasufumi, Yoshinaga, Tsuneaki, Nakamura, Katsuya, Yamaguchi, Tomomi, Ishikawa, Masumi, Kosho, Tomoki, Sekijima, Yoshiki
Publicado 2022

A patient with pleuroparenchymal fibroelastosis carrying a novel fibrillin-2 gene variant

por Hidaka, Kouko, Inai, Tetsuichiro, Kosho, Tomoki, Yamaguchi, Tomomi, Kawabata, Yoshinori, Inai, Yuko, Imamura, Shogo, Sanada, Sakiko
Publicado 2023

Case report: further delineation of AEBP1-related Ehlers–Danlos Syndrome (classical-like EDS type 2) in an additional patient and comprehensive clinical and molecular review of the...

por Yamaguchi, Tomomi, Hayashi, Shujiro, Nagai, So, Uchiyama, Akihiko, Motegi, Sei-Ichiro, Fujikawa, Tomomi, Takiguchi, Yuri, Kosho, Tomoki
Publicado 2023

Clinical features and morphology of collagen fibrils in patients with vascular Ehlers–Danlos based on electron microscopy

por Ishikawa, Satoko, Hayashi, Shujiro, Sairenchi, Toshimi, Miyamoto, Manabu, Yoshihara, Shigemi, Kobashi, Gen, Yamaguchi, Tomomi, Kosho, Tomoki, Igawa, Ken
Publicado 2023

Diagnostic value of liquid‐based cytology with fine needle aspiration specimens for cervical lymphadenopathy

por Bandoh, Nobuyuki, Goto, Takashi, Akahane, Toshiaki, Ohnuki, Natsumi, Yamaguchi, Tomomi, Kamada, Hajime, Harabuchi, Yasuaki, Tanaka, Shinya, Nishihara, Hiroshi
Publicado 2016

Efficacy and Safety of Denosumab Therapy for Osteogenesis Imperfecta Patients with Osteoporosis—Case Series

por Kobayashi, Tsukasa, Nakamura, Yukio, Suzuki, Takako, Yamaguchi, Tomomi, Takeda, Ryojun, Takagi, Masaki, Hasegawa, Tomonobu, Kosho, Tomoki, Kato, Hiroyuki
Publicado 2018

A novel frameshift mutation of SYNE1 in a Japanese family with autosomal recessive cerebellar ataxia type 8

por Yoshinaga, Tsuneaki, Nakamura, Katsuya, Ishikawa, Masumi, Yamaguchi, Tomomi, Takano, Kyoko, Wakui, Keiko, Kosho, Tomoki, Yoshida, Kunihiro, Fukushima, Yoshimitsu, Sekijima, Yoshiki
Publicado 2017

Mobile Cecum in a Young Woman with Ehlers-Danlos Syndrome Hypermobility type: A Case Report and Review of the Literature

por Fukuda, Yoshihisa, Higuchi, Yusuke, Shinozaki, Kanae, Tanigawa, Yuji, Abe, Taro, Hanaoka, Nobuyoshi, Matsubayashi, Sunao, Yamaguchi, Tomomi, Kosho, Tomoki, Nakamichi, Koji
Publicado 2017

Efficacy of denosumab therapy for neurofibromatosis type 1 with osteoporosis and history of fractures: a case report

por Uehara, Masashi, Nakamura, Yukio, Takahashi, Jun, Kamimura, Mikio, Isobe, Fumihiro, Yamaguchi, Tomomi, Kosho, Tomoki, Uchiyama, Shigeharu, Suzuki, Takako, Kato, Hiroyuki
Publicado 2018

Glomangiopericytoma of the Nasal Cavity with CTNNB1 p.S37C Mutation: A Case Report and Literature Review

por Kono, Michihisa, Bandoh, Nobuyuki, Matsuoka, Ryosuke, Goto, Takashi, Akahane, Toshiaki, Kato, Yasutaka, Nakano, Hiroshi, Yamaguchi, Tomomi, Harabuchi, Yasuaki, Nishihara, Hiroshi
Publicado 2018

Clinical and molecular features of patients with COL1 ‐related disorders: Implications for the wider spectrum and the risk of vascular complications

por Takeda, Ryojun, Yamaguchi, Tomomi, Hayashi, Shujiro, Sano, Shinichirou, Kawame, Hiroshi, Kanki, Sachiko, Taketani, Takeshi, Yoshimura, Hidekane, Nakamura, Yukio, Kosho, Tomoki
Publicado 2022

Lysinuric protein intolerance exhibiting renal tubular acidosis/Fanconi syndrome in a Japanese woman

por Hanafusa, Hiroaki, Nakamura, Katsuya, Kamijo, Yuji, Kitahara, Masashi, Ehara, Takashi, Yoshinaga, Tsuneaki, Aoki, Kaoru, Katoh, Nagaaki, Yamaguchi, Tomomi, Kosho, Tomoki, Sekijima, Yoshiki
Publicado 2023

Comprehensive validation of liquid-based cytology specimens for next-generation sequencing in cancer genome analysis

por Akahane, Toshiaki, Yamaguchi, Tomomi, Kato, Yasutaka, Yokoyama, Seiya, Hamada, Taiji, Nishida, Yukari, Higashi, Michiyo, Nishihara, Hiroshi, Suzuki, Shinsuke, Ueno, Shinichi, Tanimoto, Akihide
Publicado 2019

Lung Adenocarcinoma with Cheek Dysesthesia as an Initial Symptom: A Case Report and Literature Review

por Bandoh, Nobuyuki, Ichikawa, Haruyuki, Asahi, Atsuyoshi, Kono, Michihisa, Harabuchi, Shohei, Sato, Ryosuke, Uemura, Akihiro, Goto, Takashi, Yamaguchi, Tomomi, Kato, Yasutaka, Furukawa, Hironori, Takei, Hidehiro, Harabuchi, Yasuaki
Publicado 2019

Clinical and molecular delineation of classical-like Ehlers–Danlos syndrome through a comprehensive next-generation sequencing-based screening system

por Yamaguchi, Tomomi, Yamada, Kazuo, Nagai, So, Nishikubo, Toshiya, Koitabashi, Norimichi, Minami-Hori, Masako, Matsushima, Masaaki, Shibata, Yuka, Ishiguro, Hiroki, Sanai, Hiromi, Fujikawa, Tomomi, Takiguchi, Yuri, Matsumoto, Ken-Ichi, Kosho, Tomoki
Publicado 2023

Mid-Frequency Hearing Loss Is Characteristic Clinical Feature of OTOA-Associated Hearing Loss

por Sugiyama, Kenjiro, Moteki, Hideaki, Kitajiri, Shin-ichiro, Kitano, Tomohiro, Nishio, Shin-ya, Yamaguchi, Tomomi, Wakui, Keiko, Abe, Satoko, Ozaki, Akiko, Motegi, Remi, Matsui, Hirooki, Teraoka, Masato, Kobayashi, Yumiko, Kosho, Tomoki, Usami, Shin-ichi
Publicado 2019