Publications by authors named "Mitsuo Masuno"

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A case of Marfanoid-progeroid-lipodystrophy syndrome: experimental proof of skipping exons and escaping nonsense-mediated decay.
Takahito Moriwaki, Mitsuo Masuno, Miho Nagata, Yasuki Ishihara, Yohei Miyashita

Hum Genome Var· October 2023

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Genetic association analysis of 77,539 genomes reveals rare disease etiologies.
Daniel Greene, , Daniela Pirri, Karen Frudd, Ege Sackey, Mitsuo Masuno

Nat Med· March 2023

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A novel nonsense variant in ARID1B causing simultaneous RNA decay and exon skipping is associated with Coffin-Siris syndrome.
Viktoriia Sofronova, Yu Fukushima, Mitsuo Masuno, Mami Naka, Miho Nagata

Hum Genome Var· July 2022

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Further delineation of SET-related intellectual disability syndrome.
Kenta Shono, Yumi Enomoto, Yoshinori Tsurusaki, Tatsuro Kumaki, Mitsuo Masuno

Am J Med Genet A· May 2022

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6p21.33 Deletion encompassing CSNK2B is associated with relative macrocephaly, facial dysmorphism, and mild intellectual disability.
Ikuko Ohashi, Yukiko Kuroda, Yumi Enomoto, Hiroaki Murakami, Mitsuo Masuno

Clin Dysmorphol· July 2021

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Update of the genotype and phenotype of KMT2D and KDM6A by genetic screening of 100 patients with clinically suspected Kabuki syndrome.
Hiroaki Murakami, Yoshinori Tsurusaki, Keisuke Enomoto, Yukiko Kuroda, Takayuki Yokoi, Mitsuo Masuno

Am J Med Genet A· October 2020

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Tumor predisposition in an individual with chromosomal rearrangements of 1q31.2-q41 encompassing cell division cycle protein 73.
Naoto Nishimura, Hiroaki Murakami, Toshiyuki Saito, Mitsuo Masuno, Kenji Kurosawa

Congenit Anom (Kyoto)· July 2020

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Developmental delay and dysmorphic features in a girl with a de novo 5.4 Mb deletion of 13q12.11-q12.13.
Makiko Tominaga, Toshiyuki Saito, Mitsuo Masuno, You Umeda, Kenji Kurosawa

Congenit Anom (Kyoto)· March 2020

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Novel variants in two patients with X-linked intellectual disability.
Yoshinori Tsurusaki, Yukiko Kuroda, Yasuko Yamanouchi, Eisuke Kondo, Kazunobu Ouchi, Mitsuo Masuno

Hum Genome Var· October 2019

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Diamond-Blackfan anemia caused by chromosome 1p22 deletion encompassing .
Makiko Tominaga, Satoshi Hamanoue, Hiroaki Goto, Toshiyuki Saito, Jun-Ichi Nagai, Mitsuo Masuno

Hum Genome Var· August 2019

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Microdeletion of 19p13.3 in a girl with Peutz-Jeghers syndrome, intellectual disability, hypotonia, and distinctive features.
Yukiko Kuroda, Toshiyuki Saito, Jun-Ichi Nagai, Kazumi Ida, Takuya Naruto, Mitsuo Masuno

Am J Med Genet A· February 2015

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De novo duplication of 17p13.1-p13.2 in a patient with intellectual disability and obesity.
Yukiko Kuroda, Ikuko Ohashi, Makiko Tominaga, Toshiyuki Saito, Jun-Ichi Nagai, Mitsuo Masuno

Am J Med Genet A· June 2014

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Pure duplication of 19p13.3.
Aki Ishikawa, Keisuke Enomoto, Makiko Tominaga, Toshiyuki Saito, Jun-ichi Nagai, Mitsuo Masuno

Am J Med Genet A· September 2013

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Ehlers-Danlos syndrome, vascular type: a novel missense mutation in the COL3A1 gene.
Mitsuo Masuno, Atsushi Watanabe, Banyar Than Naing, Takashi Shimada, Wataru Fujimoto

Congenit Anom (Kyoto)· December 2012

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Expression analysis of a 17p terminal deletion, including YWHAE, but not PAFAH1B1, associated with normal brain structure on MRI in a young girl.
Keisuke Enomoto, Yasuhiro Kishitani, Makiko Tominaga, Aki Ishikawa, Noritaka Furuya, Mitsuo Masuno

Am J Med Genet A· September 2012

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Spastic quadriplegia in Down syndrome with congenital duodenal stenosis/atresia.
Kenji Kurosawa, Keisuke Enomoto, Makiko Tominaga, Noritaka Furuya, Kiyoko Sameshima, Mitsuo Masuno

Congenit Anom (Kyoto)· June 2012

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Sirenomelia with a de novo balanced translocation 46,X,t(X;16)(p11.23;p12.3).
Kenji Kurosawa, Miki Tanoshima-Takei, Toshiyuki Yamamoto, Hiroshi Ishikawa, Mitsuo Masuno

Congenit Anom (Kyoto)· June 2012

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Trends in occurrence of twin births in Japan.
Kenji Kurosawa, Mitsuo Masuno, Yoshikazu Kuroki

Am J Med Genet A· January 2012

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Severe upper airway stenosis in a boy with partial monosomy 16p13.3pter and partial trisomy 16q22qter.
Keitaro Yamada, Atsushi Uchiyama, Mayuki Arai, Kuniko Kubodera, Yutaka Yamamoto, Mitsuo Masuno

Congenit Anom (Kyoto)· June 2009

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Further delineation of 9q22 deletion syndrome associated with basal cell nevus (Gorlin) syndrome: report of two cases and review of the literature.
Kayono Yamamoto, Hiroshi Yoshihashi, Noritaka Furuya, Masanori Adachi, Susumu Ito, Mitsuo Masuno

Congenit Anom (Kyoto)· March 2009

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Screening for partial deletions in the CREBBP gene in Rubinstein-Taybi syndrome patients using multiplex PCR/liquid chromatography.
Toru Udaka, Kenji Kurosawa, Kosuke Izumi, Shinobu Yoshida, Masato Tsukahara, Mitsuo Masuno

Genet Test· April 2007

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Neuroradiologic findings in Sotos syndrome.
Hiroko Horikoshi, Zenichiro Kato, Mitsuo Masuno, Takahiko Asano, Tomoko Nagase

J Child Neurol· July 2006

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Epilepsy and neurological findings in 11 individuals with 1p36 deletion syndrome.
Kenji Kurosawa, Hiroshi Kawame, Nobuhiko Okamoto, Yukikatsu Ochiai, Akira Akatsuka, Mitsuo Masuno

Brain Dev· August 2005

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Congenital anomaly of cervical vertebrae is a major complication of Rubinstein-Taybi syndrome.
Toshiyuki Yamamoto, Kenji Kurosawa, Mitsuo Masuno, Shigeharu Okuzumi, Soichi Kondo

Am J Med Genet A· June 2005

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Novel SBDS mutations caused by gene conversion in Japanese patients with Shwachman-Diamond syndrome.
Eiji Nakashima, Akihiko Mabuchi, Yoshio Makita, Mitsuo Masuno, Hirofumi Ohashi

Hum Genet· March 2004

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