Works matching IS 14345161 AND DT 2015 AND VI 60 AND IP 6

Results: 11

No support for replication of the genetic variants identified by a recent mega-analysis of the treatment response to antidepressants.

Published in:

Journal of Human Genetics, 2015, v. 60, n. 6, p. 343, doi. 10.1038/jhg.2015.21

By:

Hatano, Masakazu;
Ikeda, Masashi;
Kondo, Kenji;
Saito, Takeo;
Shimasaki, Ayu;
Esaki, Kosei;
Umene-Nakano, Wakako;
Yoshimura, Reiji;
Nakamura, Jun;
Ozaki, Norio;
Iwata, Nakao

Publication type:

Article

Y chromosome of Aisin Gioro, the imperial house of the Qing dynasty.

Published in:

Journal of Human Genetics, 2015, v. 60, n. 6, p. 295, doi. 10.1038/jhg.2015.28

By:

Yan, Shi;
Tachibana, Harumasa;
Wei, Lan-Hai;
Yu, Ge;
Wen, Shao-Qing;
Wang, Chuan-Chao

Publication type:

Article

Tissue- and case-specific retention of intron 40 in mature dystrophin mRNA.

Published in:

Journal of Human Genetics, 2015, v. 60, n. 6, p. 327, doi. 10.1038/jhg.2015.24

By:

Nishida, Atsushi;
Minegishi, Maki;
Takeuchi, Atsuko;
Niba, Emma Tabe Eko;
Awano, Hiroyuki;
Lee, Tomoko;
Iijima, Kazumoto;
Takeshima, Yasuhiro;
Matsuo, Masafumi

Publication type:

Article

New splicing mutation in the choline kinase beta (CHKB) gene causing a muscular dystrophy detected by whole-exome sequencing.

Published in:

Journal of Human Genetics, 2015, v. 60, n. 6, p. 305, doi. 10.1038/jhg.2015.20

By:

Oliveira, Jorge;
Negrão, Luís;
Fineza, Isabel;
Taipa, Ricardo;
Melo-Pires, Manuel;
Fortuna, Ana Maria;
Gonçalves, Ana Rita;
Froufe, Hugo;
Egas, Conceição;
Santos, Rosário;
Sousa, Mário

Publication type:

Article

A novel mutation of EYA4 in a large Chinese family with autosomal dominant middle-frequency sensorineural hearing loss by targeted exome sequencing.

Published in:

Journal of Human Genetics, 2015, v. 60, n. 6, p. 299, doi. 10.1038/jhg.2015.19

By:

Sun, Yi;
Zhang, Zhao;
Cheng, Jing;
Lu, Yu;
Yang, Chang-Liang;
Luo, Yan-Yun;
Yang, Guang;
Yang, Hui;
Zhu, Li;
Zhou, Jia;
Yao, Hang-Qi

Publication type:

Article

Older individuals heterozygous for a growth hormone-releasing hormone receptor gene mutation are shorter than normal subjects.

Published in:

Journal of Human Genetics, 2015, v. 60, n. 6, p. 335, doi. 10.1038/jhg.2015.25

By:

Aguiar-Oliveira, Manuel H;
Cardoso-Filho, Marco A;
MC Pereira, Rossana;
Oliveira, Carla R P;
Souza, Anita H O;
Santos, Elenilde G;
Campos, Viviane C;
Valença, Eugênia H O;
de Oliveira, Francielle T;
Oliveira-Neto, Luiz A;
Gois-Junior, Miburge B;
Oliveira-Santos, Alecia A;
Salvatori, Roberto

Publication type:

Article

A novel de novo 20q13.32-q13.33 deletion in a 2-year-old child with poor growth, feeding difficulties and low bone mass.

Published in:

Journal of Human Genetics, 2015, v. 60, n. 6, p. 313, doi. 10.1038/jhg.2015.22

By:

Balasubramanian, Meena;
Atack, Edward;
Smith, Kath;
Parker, Michael James

Publication type:

Article

A novel mutation in EED associated with overgrowth.

Published in:

Journal of Human Genetics, 2015, v. 60, n. 6, p. 339, doi. 10.1038/jhg.2015.26

By:

Cohen, Ana S A;
Tuysuz, Beyhan;
Shen, Yaoqing;
Bhalla, Sanjiv K;
Jones, Steven J M;
Gibson, William T

Publication type:

Article

Japan PGx Data Science Consortium Database: SNPs and HLA genotype data from 2994 Japanese healthy individuals for pharmacogenomics studies.

Published in:

Journal of Human Genetics, 2015, v. 60, n. 6, p. 319, doi. 10.1038/jhg.2015.23

By:

Kamitsuji, Shigeo;
Matsuda, Takashi;
Nishimura, Koichi;
Endo, Seiko;
Wada, Chisa;
Watanabe, Kenji;
Hasegawa, Koichi;
Hishigaki, Haretsugu;
Masuda, Masatoshi;
Kuwahara, Yusuke;
Tsuritani, Katsuki;
Sugiura, Kenkichi;
Kubota, Tomoko;
Miyoshi, Shinji;
Okada, Kinya;
Nakazono, Kazuyuki;
Sugaya, Yuki;
Yang, Woosung;
Sawamoto, Taiji;
Uchida, Wataru

Publication type:

Article

A splicing mutation of the HMGA2 gene is associated with Silver-Russell syndrome phenotype.

Published in:

Journal of Human Genetics, 2015, v. 60, n. 6, p. 287, doi. 10.1038/jhg.2015.29

By:

De Crescenzo, Agostina;
Citro, Valentina;
Freschi, Andrea;
Sparago, Angela;
Palumbo, Orazio;
Cubellis, Maria Vittoria;
Carella, Massimo;
Castelluccio, Pia;
Cavaliere, Maria Luigia;
Cerrato, Flavia;
Riccio, Andrea

Publication type:

Article

Oculofaciocardiodental syndrome: novel BCOR mutations and expression in dental cells.

Published in:

Journal of Human Genetics, 2015, v. 60, n. 6, p. 345, doi. 10.1038/jhg.2015.41

By:

Surapornsawasd, Thunyaporn;
Ogawa, Takuya;
Tsuji, Michiko;
Moriyama, Keiji

Publication type:

Article