A Japanese girl with mild xeroderma pigmentosum group D neurological disease diagnosed using whole-exome sequencing

por Yokoi, Takayuki, Enomoto, Yumi, Uehara, Tomoko, Kosaki, Kenjiro, Kurosawa, Kenji
Publicado 2020

Parallel detection of single nucleotide variants and copy number variants with exome analysis: Validation in a cohort of 700 undiagnosed patients

por Suzuki, Hisato, Yamada, Mamiko, Uehara, Tomoko, Takenouchi, Toshiki, Kosaki, Kenjiro
Publicado 2020

The Tumor Suppressor BCL7B Functions in the Wnt Signaling Pathway

por Uehara, Tomoko, Kage-Nakadai, Eriko, Yoshina, Sawako, Imae, Rieko, Mitani, Shohei
Publicado 2015

Involvement of the zebrafish trrap gene in craniofacial development

por Suzuki, Taichi, Hirai, Yo, Uehara, Tomoko, Ohga, Rie, Kosaki, Kenjiro, Kawahara, Atsuo
Publicado 2021

Rhegmatogenous Retinal Detachment in Musculocontractural Ehlers–Danlos Syndrome Caused by Biallelic Loss-of-Function Variants of Gene for Dermatan Sulfate Epimerase

por Yoshikawa, Yuji, Koto, Takashi, Ishida, Tomoka, Uehara, Tomoko, Yamada, Mamiko, Kosaki, Kenjiro, Inoue, Makoto
Publicado 2023

Diagnostic utility of integrated analysis of exome and transcriptome: Successful diagnosis of Au‐Kline syndrome in a patient with submucous cleft palate, scaphocephaly, and intelle...

por Yamada, Mamiko, Shiraishi, Yuichi, Uehara, Tomoko, Suzuki, Hisato, Takenouchi, Toshiki, Abe‐Hatano, Chihiro, Kurosawa, Kenji, Kosaki, Kenjiro
Publicado 2020

Assessment of adverse events via a telephone consultation service for cancer patients receiving ambulatory chemotherapy

por Kondo, Shunsuke, Shiba, Satoshi, Udagawa, Ryoko, Ryushima, Yasuaki, Yano, Miho, Uehara, Tomoko, Asanabe, Mihoko, Tamura, Kenji, Hashimoto, Jun
Publicado 2015

Pathogenesis of CDK8-associated disorder: two patients with novel CDK8 variants and in vitro and in vivo functional analyses of the variants

por Uehara, Tomoko, Abe, Kota, Oginuma, Masayuki, Ishitani, Shizuka, Yoshihashi, Hiroshi, Okamoto, Nobuhiko, Takenouchi, Toshiki, Kosaki, Kenjiro, Ishitani, Tohru
Publicado 2020

A Japanese adult and two girls with NEDMIAL caused by de novo missense variants in DHX30

por Ueda, Kimiko, Araki, Atsushi, Fujita, Atsushi, Matsumoto, Naomichi, Uehara, Tomoko, Suzuki, Hisato, Takenouchi, Toshiki, Kosaki, Kenjiro, Okamoto, Nobuhiko
Publicado 2021

De novo NSF mutations cause early infantile epileptic encephalopathy

por Suzuki, Hisato, Yoshida, Takeshi, Morisada, Naoya, Uehara, Tomoko, Kosaki, Kenjiro, Sato, Katsunori, Matsubara, Kohei, Takano‐Shimizu, Toshiyuki, Takenouchi, Toshiki
Publicado 2019

Novel ARX mutation identified in infantile spasm syndrome patient

por Takeshita, Yohei, Ohto, Tatsuyuki, Enokizono, Takashi, Tanaka, Mai, Suzuki, Hisato, Fukushima, Hiroko, Uehara, Tomoko, Takenouchi, Toshiki, Kosaki, Kenjiro, Takada, Hidetoshi
Publicado 2020

Rheumatoid arthritis in a patient with compound heterozygous variants in the COL11A2 gene and progressive hearing loss: A case report

por Tsuchida, Yumi, Nagafuchi, Yasuo, Uehara, Tomoko, Suzuki, Hisato, Yamada, Mamiko, Kono, Masanori, Hatano, Hiroaki, Shoda, Hirofumi, Fujio, Keishi, Kosaki, Kenjiro
Publicado 2022

Pathogenetic basis of Takenouchi-Kosaki syndrome: Electron microscopy study using platelets in patients and functional studies in a Caenorhabditis elegans model

por Uehara, Tomoko, Suzuki, Hidenori, Okamoto, Nobuhiko, Kondoh, Tatsuro, Ahmad, Ayesha, O’Connor, Bridget C., Yoshina, Sawako, Mitani, Shohei, Kosaki, Kenjiro, Takenouchi, Toshiki
Publicado 2019

A novel missense PTEN mutation identified in a patient with macrocephaly and developmental delay

por Ueno, Yuichi, Enokizono, Takashi, Fukushima, Hiroko, Ohto, Tatsuyuki, Imagawa, Kazuo, Tanaka, Mai, Sakai, Aiko, Suzuki, Hisato, Uehara, Tomoko, Takenouchi, Toshiki, Kosaki, Kenjiro, Takada, Hidetoshi
Publicado 2019

A novel BBS10 mutation identified in a patient with Bardet–Biedl syndrome with a violent emotional outbreak

por Ohto, Tatsuyuki, Enokizono, Takashi, Tanaka, Ryuta, Tanaka, Mai, Suzuki, Hisato, Sakai, Aiko, Imagawa, Kazuo, Fukushima, Hiroko, Fukushima, Takashi, Sumazaki, Ryo, Uehara, Tomoko, Takenouchi, Toshiki, Kosaki, Kenjiro
Publicado 2017

A case of autism spectrum disorder with cleft lip and palate carrying a mutation in exon 8 of AUTS2

por Saeki, Saki, Enokizono, Takashi, Imagawa, Kazuo, Fukushima, Hiroko, Kajikawa, Daigo, Sakai, Aiko, Tanaka, Mai, Ohto, Tatsuyuki, Suzuki, Hisato, Uehara, Tomoko, Takenouchi, Toshiki, Kenjiro, Kosaki, Takada, Hidetoshi
Publicado 2019

Complex hereditary spastic paraplegia associated with episodic visual loss caused by ACO2 variants

por Tozawa, Takenori, Nishimura, Akira, Ueno, Tamaki, Shikata, Akane, Taura, Yoshihiro, Yoshida, Takeshi, Nakagawa, Naoko, Wada, Takahito, Kosugi, Shinji, Uehara, Tomoko, Takenouchi, Toshiki, Kosaki, Kenjiro, Chiyonobu, Tomohiro
Publicado 2021

Recurrent NFIA K125E substitution represents a loss‐of‐function allele: Sensitive in vitro and in vivo assays for nontruncating alleles

por Uehara, Tomoko, Sanuki, Rikako, Ogura, Yurie, Yokoyama, Atsushi, Yoshida, Takeshi, Futagawa, Hiroshi, Yoshihashi, Hiroshi, Yamada, Mamiko, Suzuki, Hisato, Takenouchi, Toshiki, Matsubara, Kohei, Hirata, Hiromi, Kosaki, Kenjiro, Takano‐Shimizu, Toshiyuki
Publicado 2021