Works matching IS 14345161 AND DT 2014 AND VI 59 AND IP 12

Results: 9

Sequence variants of the HTR3A gene contribute to the genetic prediction of postoperative nausea in Taiwan.

Published in:

Journal of Human Genetics, 2014, v. 59, n. 12, p. 655, doi. 10.1038/jhg.2014.89

By:

Joy Lin, Yi-Mei;
Hsu, Cheng-Da;
Hsieh, Hsiao-Yen;
Tseng, Chia-Chih Alex;
Sun, H Sunny

Publication type:

Article

Precise detection of chromosomal translocation or inversion breakpoints by whole-genome sequencing.

Published in:

Journal of Human Genetics, 2014, v. 59, n. 12, p. 649, doi. 10.1038/jhg.2014.88

By:

Suzuki, Toshifumi;
Tsurusaki, Yoshinori;
Nakashima, Mitsuko;
Miyake, Noriko;
Saitsu, Hirotomo;
Takeda, Satoru;
Matsumoto, Naomichi

Publication type:

Article

Compound heterozygous BRAT1 mutations cause familial Ohtahara syndrome with hypertonia and microcephaly.

Published in:

Journal of Human Genetics, 2014, v. 59, n. 12, p. 687, doi. 10.1038/jhg.2014.91

By:

Saitsu, Hirotomo;
Yamashita, Sumimasa;
Tanaka, Yukichi;
Tsurusaki, Yoshinori;
Nakashima, Mitsuko;
Miyake, Noriko;
Matsumoto, Naomichi

Publication type:

Article

The somatic GNAQ mutation c.548G>A (p.R183Q) is consistently found in Sturge-Weber syndrome.

Published in:

Journal of Human Genetics, 2014, v. 59, n. 12, p. 691, doi. 10.1038/jhg.2014.95

By:

Nakashima, Mitsuko;
Miyajima, Masakazu;
Sugano, Hidenori;
Iimura, Yasushi;
Kato, Mitsuhiro;
Tsurusaki, Yoshinori;
Miyake, Noriko;
Saitsu, Hirotomo;
Arai, Hajime;
Matsumoto, Naomichi

Publication type:

Article

A canonical splice site mutation in GIPC3 causes sensorineural hearing loss in a large Pakistani family.

Published in:

Journal of Human Genetics, 2014, v. 59, n. 12, p. 683, doi. 10.1038/jhg.2014.86

By:

Siddiqi, Saima;
Ismail, Muhammad;
Oostrik, Jaap;
Munawar, Saba;
Mansoor, Atika;
Kremer, Hannie;
Qamar, Raheel;
Schraders, Margit

Publication type:

Article

An A/C germline single-nucleotide polymorphism in the TNFAIP3 gene is associated with advanced disease stage and survival in only surgically treated esophageal cancer.

Published in:

Journal of Human Genetics, 2014, v. 59, n. 12, p. 661, doi. 10.1038/jhg.2014.90

By:

Ghadban, Tarik;
Smif, Magdalena;
Uzunoglu, Faik G;
Perez, Daniel R;
Tsui, Tung Y;
El Gammal, Alexander T;
Erbes, Peter J;
Zilbermints, Veacheslav;
Wellner, Ulrich;
Pantel, Klaus;
Izbicki, Jakob R;
Vashist, Yogesh K

Publication type:

Article

Forensic STR loci reveal common genetic ancestry of the Thai-Malay Muslims and Thai Buddhists in the deep Southern region of Thailand.

Published in:

Journal of Human Genetics, 2014, v. 59, n. 12, p. 675, doi. 10.1038/jhg.2014.93

By:

Kutanan, Wibhu;
Kitpipit, Thitika;
Phetpeng, Sukanya;
Thanakiatkrai, Phuvadol

Publication type:

Article

Recurrence risks for different pregnancy outcomes and meiotic segregation analysis of spermatozoa in carriers of t(1;11)(p36.22;q12.2).

Published in:

Journal of Human Genetics, 2014, v. 59, n. 12, p. 667, doi. 10.1038/jhg.2014.92

By:

Midro, Alina Teresa;
Panasiuk, Barbara;
Stasiewicz-Jarocka, Beata;
Olszewska, Marta;
Wiland, Ewa;
Myśliwiec, Marta;
Kurpisz, Maciej;
Shaffer, Lisa G;
Gajecka, Marzena

Publication type:

Article

Identification of the rare compound heterozygous variants in the NEB gene in a Korean family with intellectual disability, epilepsy and early-childhood-onset generalized muscle weakness.

Published in:

Journal of Human Genetics, 2014, v. 59, n. 12, p. 643, doi. 10.1038/jhg.2014.87

By:

Jin, Hyun-Seok;
Lee, Jong-Bin;
Kim, Kyung;
Lee, Ki-Young;
Choi, Vit-Na;
Kim, Jong-Soo;
Jeong, Seon-Yong;
Yim, Shin-Young

Publication type:

Article