Works matching IS 14345161 AND DT 2014 AND VI 59 AND IP 9

Results: 10

Exome sequencing identifies a de novo mutation in HDAC8 associated with Cornelia de Lange syndrome.

Published in:

Journal of Human Genetics, 2014, v. 59, n. 9, p. 536, doi. 10.1038/jhg.2014.60

By:

Feng, Lei;
Zhou, Daizhan;
Zhang, Zhou;
Liu, Yun;
Yang, Yabo

Publication type:

Article

A new acro-osteolysis syndrome caused by duplications including PTHLH.

Published in:

Journal of Human Genetics, 2014, v. 59, n. 9, p. 484, doi. 10.1038/jhg.2014.58

By:

Gray, Mary J;
van Kogelenberg, Margriet;
Beddow, Rachel;
Morgan, Tim;
Wordsworth, Paul;
Shears, Deborah J;
Robertson, Stephen P;
Hurst, Jane A

Publication type:

Article

Isolation, contact and social behavior shaped genetic diversity in West Timor.

Published in:

Journal of Human Genetics, 2014, v. 59, n. 9, p. 494, doi. 10.1038/jhg.2014.62

By:

Tumonggor, Meryanne K;
Karafet, Tatiana M;
Downey, Sean;
Lansing, J Stephen;
Norquest, Peter;
Sudoyo, Herawati;
Hammer, Michael F;
Cox, Murray P

Publication type:

Article

A commentary on exome sequencing identifies a de novo mutation in HDAC8 associated with Cornelia de Lange syndrome.

Published in:

Journal of Human Genetics, 2014, v. 59, n. 9, p. 479, doi. 10.1038/jhg.2014.68

By:

Sun, Liangdan

Publication type:

Article

Glutathione-S-transferase polymorphism and acute lymphoblastic leukemia (ALL) in north Indian children: a case-control study and meta-analysis.

Published in:

Journal of Human Genetics, 2014, v. 59, n. 9, p. 529, doi. 10.1038/jhg.2014.66

By:

Moulik, Nirmalya Roy;
Parveen, Farah;
Kumar, Archana;
Agrawal, Suraksha

Publication type:

Article

Geography has more influence than language on maternal genetic structure of various northeastern Thai ethnicities.

Published in:

Journal of Human Genetics, 2014, v. 59, n. 9, p. 512, doi. 10.1038/jhg.2014.64

By:

Kutanan, Wibhu;
Ghirotto, Silvia;
Bertorelle, Giorgio;
Srithawong, Suparat;
Srithongdaeng, Kanokpohn;
Pontham, Nattapon;
Kangwanpong, Daoroong

Publication type:

Article

Influence of MILR1 promoter polymorphism on expression levels and the phenotype of atopy.

Published in:

Journal of Human Genetics, 2014, v. 59, n. 9, p. 480, doi. 10.1038/jhg.2014.57

By:

Nanatsue, Kentaro;
Ninomiya, Takahiro;
Tsuchiya, Mio;
Tahara-Hanaoka, Satoko;
Shibuya, Akira;
Masuko, Hironori;
Sakamoto, Toru;
Hizawa, Nobuyuki;
Arinami, Tadao;
Noguchi, Emiko

Publication type:

Article

Alterations to DNA methylation and expression of CXCL14 are associated with suboptimal birth outcomes.

Published in:

Journal of Human Genetics, 2014, v. 59, n. 9, p. 504, doi. 10.1038/jhg.2014.63

By:

Cheong, Clara Y;
Chng, Keefe;
Lim, Mei Kee;
Amrithraj, Ajith I;
Joseph, Roy;
Sukarieh, Rami;
Chee Tan, Yong;
Chan, Louiza;
Tan, Jun Hao;
Chen, Li;
Pan, Hong;
Holbrook, Joanna D;
Meaney, Michael J;
Seng Chong, Yap;
Gluckman, Peter D;
Stünkel, Walter

Publication type:

Article

The first USH2A mutation analysis of Japanese autosomal recessive retinitis pigmentosa patients: a totally different mutation profile with the lack of frequent mutations found in Caucasian patients.

Published in:

Journal of Human Genetics, 2014, v. 59, n. 9, p. 521, doi. 10.1038/jhg.2014.65

By:

Zhao, Yang;
Hosono, Katsuhiro;
Suto, Kimiko;
Ishigami, Chie;
Arai, Yuuki;
Hikoya, Akiko;
Hirami, Yasuhiko;
Ohtsubo, Masafumi;
Ueno, Shinji;
Terasaki, Hiroko;
Sato, Miho;
Nakanishi, Hiroshi;
Endo, Shiori;
Mizuta, Kunihiro;
Mineta, Hiroyuki;
Kondo, Mineo;
Takahashi, Masayo;
Minoshima, Shinsei;
Hotta, Yoshihiro

Publication type:

Article

Germline mutation of Glu70Lys is highly frequent in Korean patients with von Hippel-Lindau (VHL) disease.

Published in:

Journal of Human Genetics, 2014, v. 59, n. 9, p. 488, doi. 10.1038/jhg.2014.61

By:

Hwang, Sena;
Ku, Cheol Ryong;
Lee, Ji In;
Hur, Kyu Yeon;
Lee, Myung-Shik;
Lee, Chul-Ho;
Koo, Kyo Yeon;
Lee, Jin-Sung;
Rhee, Yumie

Publication type:

Article