Failure of homologous synapsis and sex-specific reproduction problems

por Kurahashi, Hiroki, Kogo, Hiroshi, Tsutsumi, Makiko, Inagaki, Hidehito, Ohye, Tamae
Publicado 2012

Palindrome-Mediated Translocations in Humans: A New Mechanistic Model for Gross Chromosomal Rearrangements

por Inagaki, Hidehito, Kato, Takema, Tsutsumi, Makiko, Ouchi, Yuya, Ohye, Tamae, Kurahashi, Hiroki
Publicado 2016

Exonic duplication of the OTC gene by a complex rearrangement that likely occurred via a replication-based mechanism: a case report

por Yokoi, Katsuyuki, Nakajima, Yoko, Inagaki, Hidehito, Tsutsumi, Makiko, Ito, Tetsuya, Kurahashi, Hiroki
Publicado 2018

Molecular analysis of low‐level mosaicism of the IKBKG mutation using the X Chromosome Inactivation pattern in Incontinentia Pigmenti

por Kawai, Miki, Kato, Takema, Tsutsumi, Makiko, Shinkai, Yasuko, Inagaki, Hidehito, Kurahashi, Hiroki
Publicado 2020

DNA secondary structure is influenced by genetic variation and alters susceptibility to de novo translocation

por Kato, Takema, Inagaki, Hidehito, Tong, Maoqing, Kogo, Hiroshi, Ohye, Tamae, Yamada, Kouji, Tsutsumi, Makiko, Emanuel, Beverly S, Kurahashi, Hiroki
Publicado 2011

DEAD-Box Protein Ddx46 Is Required for the Development of the Digestive Organs and Brain in Zebrafish

por Hozumi, Shunya, Hirabayashi, Ryo, Yoshizawa, Akio, Ogata, Mitsuko, Ishitani, Tohru, Tsutsumi, Makiko, Kuroiwa, Atsushi, Itoh, Motoyuki, Kikuchi, Yutaka
Publicado 2012

Age-Related Decrease of Meiotic Cohesins in Human Oocytes

por Tsutsumi, Makiko, Fujiwara, Reiko, Nishizawa, Haruki, Ito, Mayuko, Kogo, Hiroshi, Inagaki, Hidehito, Ohye, Tamae, Kato, Takema, Fujii, Takuma, Kurahashi, Hiroki
Publicado 2014

Maple syrup urine disease due to a paracentric inversion of chr 19 that disrupts BCKDHA : A case report

por Yokoi, Katsuyuki, Nakajima, Yoko, Sudo, Yuta, Mariya, Tasuku, Kawamura, Rie, Tsutsumi, Makiko, Inagaki, Hidehito, Yoshikawa, Tetsushi, Ito, Tetsuya, Kurahashi, Hiroki
Publicado 2022

A constitutional jumping translocation involving the Y and acrocentric chromosomes

por Tsutsumi, Makiko, Fujita, Naoko, Suzuki, Fumihiko, Mishima, Takashi, Fujieda, Satoko, Watari, Michiko, Takahashi, Nobuhiro, Tonoki, Hidefumi, Moriwaka, Osamu, Endo, Toshiaki, Kurahashi, Hiroki
Publicado 2019

An aggressive systemic mastocytosis preceded by ovarian dysgerminoma

por Tsutsumi, Makiko, Miura, Hiroki, Inagaki, Hidehito, Shinkai, Yasuko, Kato, Asuka, Kato, Takema, Hamada-Tsutsumi, Susumu, Tanaka, Makito, Kudo, Kazuko, Yoshikawa, Tetsushi, Kurahashi, Hiroki
Publicado 2020

Identification of novel FATP4 mutations in a Japanese patient with ichthyosis prematurity syndrome

por Tsuge, Ikuya, Morishita, Masashi, Kato, Takema, Tsutsumi, Makiko, Inagaki, Hidehito, Mori, Yuji, Yamawaki, Kazuo, Inuo, Chisato, Ieda, Kuniko, Ohye, Tamae, Hayakawa, Akinori, Kurahashi, Hiroki
Publicado 2015

Potential role for nectin-4 in the pathogenesis of pre-eclampsia: a molecular genetic study

por Ito, Mayuko, Nishizawa, Haruki, Tsutsumi, Makiko, Kato, Asuka, Sakabe, Yoshiko, Noda, Yoshiteru, Ohwaki, Akiko, Miyazaki, Jun, Kato, Takema, Shiogama, Kazuya, Sekiya, Takao, Kurahashi, Hiroki, Fujii, Takuma
Publicado 2018

A female patient with retinoblastoma and severe intellectual disability carrying an X;13 balanced translocation without rearrangement in the RB1 gene: a case report

por Tsutsumi, Makiko, Hattori, Hiroyoshi, Akita, Nobuhiro, Maeda, Naoko, Kubota, Toshinobu, Horibe, Keizo, Fujita, Naoko, Kawai, Miki, Shinkai, Yasuko, Kato, Maki, Kato, Takema, Kawamura, Rie, Suzuki, Fumihiko, Kurahashi, Hiroki
Publicado 2019

TUBA1A mutation can cause a hydranencephaly-like severe form of cortical dysgenesis

por Yokoi, Setsuri, Ishihara, Naoko, Miya, Fuyuki, Tsutsumi, Makiko, Yanagihara, Itaru, Fujita, Naoko, Yamamoto, Hiroyuki, Kato, Mitsuhiro, Okamoto, Nobuhiko, Tsunoda, Tatsuhiko, Yamasaki, Mami, Kanemura, Yonehiro, Kosaki, Kenjiro, Kojima, Seiji, Saitoh, Shinji, Kurahashi, Hiroki, Natsume, Jun
Publicado 2015