Frequent Allelic Loss at 7p14‐15 Associated with Aggressive Histologic Types of Breast Cancer

por Kurose, Keisuke, Iida, Aritoshi, Araki, Tsutomu, Sakamoto, Goi, Kasumi, Fujio, Nakamura, Yusuke, Emi, Mitsuru
Publicado 1998

Allelic Loss on Chromosome 9q Is Associated with Lymph Node Metastasis of Primary Breast Cancer

por Minobe, Kaori, Onda, Masahiko, Iida, Aritoshi, Kasumi, Fujio, Sakamoto, Goi, Nakamura, Yusuke, Emi, Mitsuru
Publicado 1998

Causative variant profile of collagen VI-related dystrophy in Japan

por Inoue, Michio, Saito, Yoshihiko, Yonekawa, Takahiro, Ogawa, Megumu, Iida, Aritoshi, Nishino, Ichizo, Noguchi, Satoru
Publicado 2021

A novel compound heterozygous variant of ECHS1 identified in a Japanese patient with Leigh syndrome

por Uchino, Shumpei, Iida, Aritoshi, Sato, Atsushi, Ishikawa, Keiko, Mimaki, Masakazu, Nishino, Ichizo, Goto, Yu-ichi
Publicado 2019

A novel LMNA mutation identified in a Japanese patient with LMNA-associated congenital muscular dystrophy

por Ishiyama, Akihiko, Iida, Aritoshi, Hayashi, Shinichiro, Komaki, Hirofumi, Sasaki, Masayuki, Nonaka, Ikuya, Noguchi, Satoru, Nishino, Ichizo
Publicado 2018

Ten novel insertion/deletion variants in MECP2 identified in Japanese patients with Rett syndrome

por Takeshita, Eri, Iida, Aritoshi, Abe-Hatano, Chihiro, Nakagawa, Eiji, Sasaki, Masayuki, Inoue, Ken, Goto, Yu-ichi
Publicado 2019

An adult nemaline myopathy patient with respiratory and heart failure harboring a novel NEB variant

por Ohara, Masahiro, Saito, Yoshihiko, Watanabe, Mutsufusa, Mizutani, Saneyuki, Kobayashi, Masaki, Iida, Aritoshi, Nishino, Ichizo, Fujigasaki, Hiroto
Publicado 2020

Novel CLOCK and NR1D2 variants in 64 sighted Japanese individuals with non-24-hour sleep–wake rhythm disorder

por Hida, Akiko, Iida, Aritoshi, Ukai, Motoki, Kadotani, Hiroshi, Uchiyama, Makoto, Ebisawa, Takashi, Inoue, Yuichi, Kitamura, Shingo, Mishima, Kazuo
Publicado 2023

Two Target Regions of Allelic Loss on Chromosome 9 in Urinary‐bladder Cancer

por Ohgaki, Kenji, Minobe, Kaori, Kurose, Keisuke, Iida, Aritoshi, Habuchi, Tomonori, Ogawa, Osamu, Kubota, Yoshinobu, Akimoto, Masao, Emi, Mitsuru
Publicado 1999

TNNI1 Mutated in Autosomal Dominant Proximal Arthrogryposis

por Nishimori, Yukako, Iida, Aritoshi, Ogasawara, Masashi, Okubo, Mariko, Yonenobu, Yuki, Kinoshita, Makoto, Sugie, Kazuma, Noguchi, Satoru, Nishino, Ichizo
Publicado 2021

Intranuclear inclusions in muscle biopsy can differentiate oculopharyngodistal myopathy and oculopharyngeal muscular dystrophy

por Ogasawara, Masashi, Eura, Nobuyuki, Iida, Aritoshi, Kumutpongpanich, Theerawat, Minami, Narihiro, Nonaka, Ikuya, Hayashi, Shinichiro, Noguchi, Satoru, Nishino, Ichizo
Publicado 2022

Double non-contiguous fractures in a patient with spondylo-epiphyseal dysplasia with spinal ankylosis treated with open and percutaneous spinal fixation technique: a case report

por Ushijima, Takahiro, Kawaguchi, Kenichi, Matsumoto, Tadashi, Takagi, Masaki, Kondoh, Tatsuro, Nishimura, Gen, Iida, Aritoshi, Ikegawa, Shiro, Haga, Nobuhiko, Kato, Go
Publicado 2018

Three novel MTM1 pathogenic variants identified in Japanese patients with X‐linked myotubular myopathy

por Nishikawa, Atsuko, Iida, Aritoshi, Hayashi, Shinichiro, Okubo, Mariko, Oya, Yasushi, Yamanaka, Gaku, Takahashi, Ikuko, Nonaka, Ikuya, Noguchi, Satoru, Nishino, Ichizo
Publicado 2019

A novel intragenic deletion in OPHN1 in a Japanese patient with Dandy-Walker malformation

por Iida, Aritoshi, Takeshita, Eri, Kosugi, Shunichi, Kamatani, Yoichiro, Momozawa, Yukihide, Kubo, Michiaki, Nakagawa, Eiji, Kurosawa, Kenji, Inoue, Ken, Goto, Yu-ichi
Publicado 2018

Neuropathy/intranuclear inclusion bodies in oculopharyngodistal myopathy: A case report

por Matsubara, Tomoyasu, Saito, Yuko, Kurashige, Takashi, Higashihara, Mana, Hasegawa, Fumio, Ogasawara, Masashi, Iida, Aritoshi, Nishino, Ichizo, Adachi, Tadashi, Kubota, Akatsuki, Murayama, Shigeo
Publicado 2021

A novel FOXC2 mutation in spinal extradural arachnoid cyst

por Ogura, Yoji, Fujibayashi, Shunsuke, Iida, Aritoshi, Kou, Ikuyo, Nakajima, Masahiro, Okada, Eijiro, Toyama, Yoshiaki, Iwanami, Akio, Ishii, Ken, Nakamura, Masaya, Matsumoto, Morio, Ikegawa, Shiro
Publicado 2015

FOXC2 Mutations in Familial and Sporadic Spinal Extradural Arachnoid Cyst

por Ogura, Yoji, Yabuki, Shoji, Iida, Aritoshi, Kou, Ikuyo, Nakajima, Masahiro, Kano, Hiroki, Shiina, Masaaki, Kikuchi, Shinichi, Toyama, Yoshiaki, Ogata, Kazuhiro, Nakamura, Masaya, Matsumoto, Morio, Ikegawa, Shiro
Publicado 2013

Two novel VCP missense variants identified in Japanese patients with multisystem proteinopathy

por Inoue, Michio, Iida, Aritoshi, Hayashi, Shinichiro, Mori-Yoshimura, Madoka, Nagaoka, Atsushi, Yoshimura, Shunsuke, Shiraishi, Hirokazu, Tsujino, Akira, Takahashi, Yuji, Nonaka, Ikuya, Hayashi, Yukiko K., Noguchi, Satoru, Nishino, Ichizo
Publicado 2018

A novel PAK3 pathogenic variant identified in two siblings from a Japanese family with X-linked intellectual disability: case report and review of the literature

por Iida, Aritoshi, Takano, Kyoko, Takeshita, Eri, Abe-Hatano, Chihiro, Hirabayashi, Shinichi, Inaba, Yuji, Kosugi, Shunichi, Kamatani, Yoichiro, Momozawa, Yukihide, Kubo, Michiaki, Nakagawa, Eiji, Inoue, Ken, Goto, Yu-ichi
Publicado 2019

A recurrent homozygous ACTN2 variant associated with core myopathy

por Inoue, Michio, Noguchi, Satoru, Sonehara, Kyuto, Nakamura-Shindo, Keiko, Taniguchi, Akira, Kajikawa, Hiroyuki, Nakamura, Hisayoshi, Ishikawa, Keiko, Ogawa, Megumu, Hayashi, Shinichiro, Okada, Yukinori, Kuru, Satoshi, Iida, Aritoshi, Nishino, Ichizo
Publicado 2021