A severe form of Ellis-van Creveld syndrome caused by novel mutations in EVC2
Ohashi, Ikuko, Enomoto, Yumi, Naruto, Takuya, Tsurusaki, Yoshinori, Kuroda, Yukiko, Ishikawa, Hiroshi, Ohyama, Makiko, Aida, Noriko, Nishimura, Gen, Kurosawa, Kenji
Published in Human genome variation (26.08.2019)
Published in Human genome variation (26.08.2019)
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Journal Article
Familial total anomalous pulmonary venous return with 15q11.2 (BP1-BP2) microdeletion
Kuroda, Yukiko, Ohashi, Ikuko, Naruto, Takuya, Ida, Kazumi, Enomoto, Yumi, Saito, Toshiyuki, Nagai, Jun-Ichi, Yanagi, Sadamitsu, Ueda, Hideaki, Kurosawa, Kenji
Published in Journal of human genetics (01.11.2018)
Published in Journal of human genetics (01.11.2018)
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Journal Article
Evaluation of a patient with classical Ehlers‐Danlos syndrome due to a 9q34 duplication affecting COL5A1
Kuroda, Yukiko, Ohashi, Ikuko, Naruto, Takuya, Ida, Kazumi, Enomoto, Yumi, Saito, Toshiyuki, Nagai, Jun‐ichi, Kurosawa, Kenji
Published in Congenital anomalies (01.11.2018)
Published in Congenital anomalies (01.11.2018)
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Journal Article
A novel UBE2A mutation causes X-linked intellectual disability type Nascimento
Tsurusaki, Yoshinori, Ohashi, Ikuko, Enomoto, Yumi, Naruto, Takuya, Mitsui, Jun, Aida, Noriko, Kurosawa, Kenji
Published in Human genome variation (08.06.2017)
Published in Human genome variation (08.06.2017)
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Journal Article
6p21.33 Deletion encompassing CSNK2B is associated with relative macrocephaly, facial dysmorphism, and mild intellectual disability
Ohashi, Ikuko, Kuroda, Yukiko, Enomoto, Yumi, Murakami, Hiroaki, Masuno, Mitsuo, Kurosawa, Kenji
Published in Clinical dysmorphology (01.07.2021)
Published in Clinical dysmorphology (01.07.2021)
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Journal Article
Role of Scl39a13/ZIP13 in cardiovascular homeostasis
Hara, Takafumi, Yamada, Ikuko, Ohashi, Takuto, Tamura, Masaru, Hijikata, Atsushi, Watanabe, Takashi, Gao, Minghao, Ito, Kana, Kawamata, Saeko, Azuma, Shiori, Yoshigai, Emi, Sumiyoshi, Yukiko, Yasuhiro, Natsumi, Ohara, Osamu, Santos, Heloísa G. dos, Fukada, Toshiyuki
Published in PloS one (21.10.2022)
Published in PloS one (21.10.2022)
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Journal Article
West syndrome in a patient with Schinzel-Giedion syndrome
Miyake, Fuyu, Kuroda, Yukiko, Naruto, Takuya, Ohashi, Ikuko, Takano, Kyoko, Kurosawa, Kenji
Published in Journal of child neurology (01.06.2015)
Published in Journal of child neurology (01.06.2015)
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Journal Article
Update of the genotype and phenotype of KMT2D and KDM6A by genetic screening of 100 patients with clinically suspected Kabuki syndrome
Murakami, Hiroaki, Tsurusaki, Yoshinori, Enomoto, Keisuke, Kuroda, Yukiko, Yokoi, Takayuki, Furuya, Noritaka, Yoshihashi, Hiroshi, Minatogawa, Mari, Abe‐Hatano, Chihiro, Ohashi, Ikuko, Nishimura, Naoto, Kumaki, Tatsuro, Enomoto, Yumi, Naruto, Takuya, Iwasaki, Fuminori, Harada, Noriaki, Ishikawa, Aki, Kawame, Hiroshi, Sameshima, Kiyoko, Yamaguchi, Yu, Kobayashi, Masahisa, Tominaga, Makiko, Ishikiriyama, Satoshi, Tanaka, Toshiaki, Suzumura, Hiroshi, Ninomiya, Shinsuke, Kondo, Akane, Kaname, Tadashi, Kosaki, Kenjiro, Masuno, Mitsuo, Kuroki, Yoshikazu, Kurosawa, Kenji
Published in American journal of medical genetics. Part A (01.10.2020)
Published in American journal of medical genetics. Part A (01.10.2020)
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Journal Article
Repeated collection of conjoined oocytes from a patient with polycystic ovary syndrome, resulting in one successful live birth from frozen thawed blastocyst transfer: a case report
Yano, Kohji, Hashida, Naoko, Kubo, Toshiko, Ohashi, Ikuko, Koizumi, Azusa, Kageura, Rumi, Furutani, Kouichi, Yano, Chieko
Published in Journal of assisted reproduction and genetics (01.11.2017)
Published in Journal of assisted reproduction and genetics (01.11.2017)
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Journal Article
Divergent variant patterns among 19 patients with Rubinstein‐Taybi syndrome uncovered by comprehensive genetic analysis including whole genome sequencing
Enomoto, Yumi, Yokoi, Takayuki, Tsurusaki, Yoshinori, Murakami, Hiroaki, Tominaga, Makiko, Minatogawa, Mari, Abe‐Hatano, Chihiro, Kuroda, Yukiko, Ohashi, Ikuko, Ida, Kazumi, Shiiya, Shizuka, Kumaki, Tatsuro, Naruto, Takuya, Mitsui, Jun, Harada, Noriaki, Kido, Yasuhiro, Kurosawa, Kenji
Published in Clinical genetics (01.03.2022)
Published in Clinical genetics (01.03.2022)
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Journal Article
A postzygotic NRAS mutation in a patient with Schimmelpenning syndrome
Kuroda, Yukiko, Ohashi, Ikuko, Enomoto, Yumi, Naruto, Takuya, Baba, Naoko, Tanaka, Yukichi, Aida, Noriko, Okamoto, Nobuhiko, Niihori, Tetsuya, Aoki, Yoko, Kurosawa, Kenji
Published in American journal of medical genetics. Part A (01.09.2015)
Published in American journal of medical genetics. Part A (01.09.2015)
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Journal Article
Delineation of the KIAA2022 mutation phenotype: Two patients with X-linked intellectual disability and distinctive features
Kuroda, Yukiko, Ohashi, Ikuko, Naruto, Takuya, Ida, Kazumi, Enomoto, Yumi, Saito, Toshiyuki, Nagai, Jun-ichi, Wada, Takahito, Kurosawa, Kenji
Published in American journal of medical genetics. Part A (01.06.2015)
Published in American journal of medical genetics. Part A (01.06.2015)
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Journal Article
A novel UBE2A mutation causes X-linked intellectual disability type Nascimento
Tsurusaki, Yoshinori, Ohashi, Ikuko, Enomoto, Yumi, Naruto, Takuya, Mitsui, Jun, Aida, Noriko, Kurosawa, Kenji
Published in Human genome variation (01.01.2017)
Published in Human genome variation (01.01.2017)
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Journal Article
Chemical zona pellucida thinning with acidified Tyrode's solution: comparison between partial and circumferential techniques
Yano, Kohji, Yano, Chieko, Kubo, Toshiko, Ohashi, Ikuko, Maeda, Nagamasa, Fukaya, Takao
Published in Journal of assisted reproduction and genetics (01.10.2007)
Published in Journal of assisted reproduction and genetics (01.10.2007)
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Journal Article
De novo duplication of 17p13.1-p13.2 in a patient with intellectual disability and obesity
Kuroda, Yukiko, Ohashi, Ikuko, Tominaga, Makiko, Saito, Toshiyuki, Nagai, Jun-ichi, Ida, Kazumi, Naruto, Takuya, Masuno, Mitsuo, Kurosawa, Kenji
Published in American journal of medical genetics. Part A (01.06.2014)
Published in American journal of medical genetics. Part A (01.06.2014)
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Journal Article
Deletion of UBE3A in brothers with Angelman syndrome at the breakpoint with an inversion at 15q11.2
Kuroda, Yukiko, Ohashi, Ikuko, Saito, Toshiyuki, Nagai, Jun-Ichi, Ida, Kazumi, Naruto, Takuya, Wada, Takahito, Kurosawa, Kenji
Published in American journal of medical genetics. Part A (01.11.2014)
Published in American journal of medical genetics. Part A (01.11.2014)
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Journal Article
Refinement of the deletion in 8q22.2-q22.3: The minimum deletion size at 8q22.3 related to intellectual disability and epilepsy
Kuroda, Yukiko, Ohashi, Ikuko, Saito, Toshiyuki, Nagai, Jun-ichi, Ida, Kazumi, Naruto, Takuya, Iai, Mizue, Kurosawa, Kenji
Published in American journal of medical genetics. Part A (01.08.2014)
Published in American journal of medical genetics. Part A (01.08.2014)
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Journal Article