Works matching IS 14345161 AND DT 2015 AND VI 60 AND IP 10

Results: 16

Genetic mutations in human rectal cancers detected by targeted sequencing.

Published in:

Journal of Human Genetics, 2015, v. 60, n. 10, p. 589, doi. 10.1038/jhg.2015.71

By:

Bai, Jun;
Gao, Jinglong;
Mao, Zhijun;
Wang, Jianhua;
Li, Jianhui;
Li, Wensheng;
Lei, Yu;
Li, Shuaishuai;
Wu, Zhuo;
Tang, Chuanning;
Jones, Lindsey;
Ye, Hua;
Lou, Feng;
Liu, Zhiyuan;
Dong, Zhishou;
Guo, Baishuai;
Huang, Xue F;
Chen, Si-Yi;
Zhang, Enke

Publication type:

Article

The diagnostic utility of exome sequencing in Joubert syndrome and related disorders.

Published in:

Journal of Human Genetics, 2015, v. 60, n. 10, p. 651, doi. 10.1038/jhg.2015.86

By:

Tsurusaki, Yoshinori;
Kobayashi, Yasuko;
Hisano, Masataka;
Ito, Shuichi;
Doi, Hiroshi;
Nakashima, Mitsuko;
Saitsu, Hirotomo;
Matsumoto, Naomichi;
Miyake, Noriko

Publication type:

Article

Genome-wide association study of IgA nephropathy using 23 465 microsatellite markers in a Japanese population.

Published in:

Journal of Human Genetics, 2015, v. 60, n. 10, p. 573, doi. 10.1038/jhg.2015.88

By:

Saka, Sanae;
Hirawa, Nobuhito;
Oka, Akira;
Yatsu, Keisuke;
Hirukawa, Takeshi;
Yamamoto, Ryohei;
Matsusaka, Taiji;
Imai, Enyu;
Narita, Ichiei;
Endoh, Masayuki;
Ichikawa, Iekuni;
Umemura, Satoshi;
Inoko, Hidetoshi

Publication type:

Article

Spina bifida in fetus is associated with an altered pattern of DNA methylation in placenta.

Published in:

Journal of Human Genetics, 2015, v. 60, n. 10, p. 605, doi. 10.1038/jhg.2015.80

By:

Zhang, Xiaojuan;
Pei, Lijun;
Li, Runting;
Zhang, Wei;
Yang, Hua;
Li, Yongchao;
Guo, Yu;
Tan, Pingping;
Han, Jingdong J;
Zheng, Xiaoying;
Ma, Runlin Z

Publication type:

Article

Unique characteristics of the Ainu population in Northern Japan.

Published in:

Journal of Human Genetics, 2015, v. 60, n. 10, p. 565, doi. 10.1038/jhg.2015.79

By:

Jinam, Timothy A;
Kanzawa-Kiriyama, Hideaki;
Inoue, Ituro;
Tokunaga, Katsushi;
Omoto, Keiichi;
Saitou, Naruya

Publication type:

Article

Whole-exome sequencing reveals a novel frameshift mutation in the FAM161A gene causing autosomal recessive retinitis pigmentosa in the Indian population.

Published in:

Journal of Human Genetics, 2015, v. 60, n. 10, p. 625, doi. 10.1038/jhg.2015.92

By:

Zhou, Yu;
Saikia, Bibhuti B;
Jiang, Zhilin;
Zhu, Xiong;
Liu, Yuqing;
Huang, Lulin;
Kim, Ramasamy;
Yang, Yin;
Qu, Chao;
Hao, Fang;
Gong, Bo;
Tai, Zhengfu;
Niu, Lihong;
Yang, Zhenglin;
Sundaresan, Periasamy;
Zhu, Xianjun

Publication type:

Article

Frequent genomic rearrangements of BRCA1 associated protein-1 (BAP1) gene in Japanese malignant mesothelioma-characterization of deletions at exon level.

Published in:

Journal of Human Genetics, 2015, v. 60, n. 10, p. 647, doi. 10.1038/jhg.2015.91

By:

Emi, Mitsuru;
Yoshikawa, Yoshie;
Sato, Chika;
Sato, Ayuko;
Sato, Hidenori;
Kato, Takeo;
Tsujimura, Tohru;
Hasegawa, Seiki;
Nakano, Takashi;
Hashimoto-Tamaoki, Tomoko

Publication type:

Article

Association of common variants in H2AFZ gene with schizophrenia and cognitive function in patients with schizophrenia.

Published in:

Journal of Human Genetics, 2015, v. 60, n. 10, p. 619, doi. 10.1038/jhg.2015.89

By:

Chang, Ming;
Sun, Linyan;
Liu, Xinmei;
Sun, Wei;
You, Xuqun

Publication type:

Article

Japonica array: improved genotype imputation by designing a population-specific SNP array with 1070 Japanese individuals.

Published in:

Journal of Human Genetics, 2015, v. 60, n. 10, p. 581, doi. 10.1038/jhg.2015.68

By:

Kawai, Yosuke;
Mimori, Takahiro;
Kojima, Kaname;
Nariai, Naoki;
Danjoh, Inaho;
Saito, Rumiko;
Yasuda, Jun;
Yamamoto, Masayuki;
Nagasaki, Masao

Publication type:

Article

Carrier frequency of the GJB2 mutations that cause hereditary hearing loss in the Japanese population.

Published in:

Journal of Human Genetics, 2015, v. 60, n. 10, p. 613, doi. 10.1038/jhg.2015.82

By:

Taniguchi, Mirei;
Matsuo, Hirotaka;
Shimizu, Seiko;
Nakayama, Akiyoshi;
Suzuki, Koji;
Hamajima, Nobuyuki;
Shinomiya, Nariyoshi;
Nishio, Shinya;
Kosugi, Shinji;
Usami, Shin-ichi;
Ito, Juichi;
Kitajiri, Shin-ichiro

Publication type:

Article

Screening of sarcomere gene mutations in young athletes with abnormal findings in electrocardiography: identification of a MYH7 mutation and MYBPC3 mutations.

Published in:

Journal of Human Genetics, 2015, v. 60, n. 10, p. 641, doi. 10.1038/jhg.2015.81

By:

Kadota, Chika;
Arimura, Takuro;
Hayashi, Takeharu;
Naruse, Taeko K;
Kawai, Sachio;
Kimura, Akinori

Publication type:

Article

Germline mutations causing familial lung cancer.

Published in:

Journal of Human Genetics, 2015, v. 60, n. 10, p. 597, doi. 10.1038/jhg.2015.75

By:

Tomoshige, Koichi;
Matsumoto, Keitaro;
Tsuchiya, Tomoshi;
Oikawa, Masahiro;
Miyazaki, Takuro;
Yamasaki, Naoya;
Mishima, Hiroyuki;
Kinoshita, Akira;
Kubo, Toru;
Fukushima, Kiyoyasu;
Yoshiura, Koh-ichiro;
Nagayasu, Takeshi

Publication type:

Article

Calcification of joints and arteries: second report with novel NT5E mutations and expansion of the phenotype.

Published in:

Journal of Human Genetics, 2015, v. 60, n. 10, p. 561, doi. 10.1038/jhg.2015.85

By:

Zhang, Zeng;
He, Jin-Wei;
Fu, Wen-Zhen;
Zhang, Chang-Qing;
Zhang, Zhen-Lin

Publication type:

Article

FALS with FUS mutation in Japan, with early onset, rapid progress and basophilic inclusion.

Published in:

Journal of Human Genetics, 2015, v. 60, n. 10, p. 653, doi. 10.1038/jhg.2015.93

By:

Suzuki, Naoki;
Aoki, Masashi;
Warita, Hitoshi;
Kato, Masaaki;
Mizuno, Hideki;
Shimakura, Naoko;
Akiyama, Tetsuya;
Furuya, Hirokazu;
Hokonohara, Toshihiro;
Iwaki, Akiko;
Togashi, Shinji;
Konno, Hidehiko;
Itoyama, Yasuto

Publication type:

Article

GIGYF2 mutation in late-onset Parkinson's disease with cognitive impairment.

Published in:

Journal of Human Genetics, 2015, v. 60, n. 10, p. 637, doi. 10.1038/jhg.2015.69

By:

Ruiz-Martinez, Javier;
Krebs, Catharine E;
Makarov, Vladimir;
Gorostidi, Ana;
Martí-Massó, Jose Félix;
Paisán-Ruiz, Coro

Publication type:

Article

Novel compound heterozygous LIAS mutations cause glycine encephalopathy.

Published in:

Journal of Human Genetics, 2015, v. 60, n. 10, p. 631, doi. 10.1038/jhg.2015.72

By:

Tsurusaki, Yoshinori;
Tanaka, Ryuta;
Shimada, Shino;
Shimojima, Keiko;
Shiina, Masaaki;
Nakashima, Mitsuko;
Saitsu, Hirotomo;
Miyake, Noriko;
Ogata, Kazuhiro;
Yamamoto, Toshiyuki;
Matsumoto, Naomichi

Publication type:

Article