Works matching IS 14345161 AND DT 2014 AND VI 59 AND IP 6

Results: 13

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

Published in:

Journal of Human Genetics, 2014, v. 59, n. 6, p. 314, doi. 10.1038/jhg.2014.24

By:

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

Publication type:

Article

Identification of KMT2D and KDM6A mutations by exome sequencing in Korean patients with Kabuki syndrome.

Published in:

Journal of Human Genetics, 2014, v. 59, n. 6, p. 321, doi. 10.1038/jhg.2014.25

By:

Cheon, Chong Kun;
Sohn, Young Bae;
Ko, Jung Min;
Lee, Yeoun Joo;
Song, Ji Sun;
Moon, Jea Woo;
Yang, Bo Kyoung;
Ha, Il Soo;
Bae, Eun Jung;
Jin, Hyun-Seok;
Jeong, Seon-Yong

Publication type:

Article

The screening of the 3′UTR sequence of LRRK2 identified an association between the rs66737902 polymorphism and Parkinson's disease.

Published in:

Journal of Human Genetics, 2014, v. 59, n. 6, p. 346, doi. 10.1038/jhg.2014.26

By:

Cardo, Lucía F;
Coto, Eliecer;
Ribacoba, René;
Mata, Ignacio F;
Moris, Germán;
Menéndez, Manuel;
Alvarez, Victoria

Publication type:

Article

Compilation of copy number variants identified in phenotypically normal and parous Japanese women.

Published in:

Journal of Human Genetics, 2014, v. 59, n. 6, p. 326, doi. 10.1038/jhg.2014.27

By:

Migita, Ohsuke;
Maehara, Kayoko;
Kamura, Hiromi;
Miyakoshi, Kei;
Tanaka, Mamoru;
Morokuma, Seiichi;
Fukushima, Kotaro;
Shimamoto, Tomihiro;
Saito, Shigeru;
Sago, Haruhiko;
Nishihama, Keiichiro;
Abe, Kosei;
Nakabayashi, Kazuhiko;
Umezawa, Akihiro;
Okamura, Kohji;
Hata, Kenichiro

Publication type:

Article

Testing the key assumption of heritability estimates based on genome-wide genetic relatedness.

Published in:

Journal of Human Genetics, 2014, v. 59, n. 6, p. 342, doi. 10.1038/jhg.2014.14

By:

Conley, Dalton;
Siegal, Mark L;
W Domingue, Benjamin;
Mullan Harris, Kathleen;
B McQueen, Matthew;
D Boardman, Jason

Publication type:

Article

The imprinted gene LRRTM1 mediates schizotypy and handedness in a nonclinical population.

Published in:

Journal of Human Genetics, 2014, v. 59, n. 6, p. 332, doi. 10.1038/jhg.2014.30

By:

Leach, Emma L;
Prefontaine, Gratien;
Hurd, Peter L;
Crespi, Bernard J

Publication type:

Article

Association study of common polymorphisms in MSRA, TFAP2B, MC4R, NRXN3, PPARGC1A, TMEM18, SEC16B, HOXB5 and OLFM4 genes with obesity-related traits among Portuguese children.

Published in:

Journal of Human Genetics, 2014, v. 59, n. 6, p. 307, doi. 10.1038/jhg.2014.23

By:

Albuquerque, David;
Nóbrega, Clévio;
Rodríguez-López, Raquel;
Manco, Licínio

Publication type:

Article

Testing the key assumption of heritability estimates based on genome-wide genetic relatedness.

Published in:

Journal of Human Genetics, 2014, v. 59, n. 6, p. 357, doi. 10.1038/jhg.2014.33

By:

Conley, Dalton;
Siegal, Mark L;
Domingue, Benjamin W;
Harris, Kathleen Mullan;
McQueen, Matthew B;
Boardman, Jason D

Publication type:

Article

Mutation spectrum and phenotypic variation in nine patients with SOX2 abnormalities.

Published in:

Journal of Human Genetics, 2014, v. 59, n. 6, p. 353, doi. 10.1038/jhg.2014.34

By:

Suzuki, Junichi;
Azuma, Noriyuki;
Dateki, Sumito;
Soneda, Shun;
Muroya, Koji;
Yamamoto, Yukiyo;
Saito, Reiko;
Sano, Shinichiro;
Nagai, Toshiro;
Wada, Hiroshi;
Endo, Akira;
Urakami, Tatsuhiko;
Ogata, Tsutomu;
Fukami, Maki

Publication type:

Article

An emerging phenotype of Xq22 microdeletions in females with severe intellectual disability, hypotonia and behavioral abnormalities.

Published in:

Journal of Human Genetics, 2014, v. 59, n. 6, p. 300, doi. 10.1038/jhg.2014.21

By:

Yamamoto, Toshiyuki;
Wilsdon, Anna;
Joss, Shelagh;
Isidor, Bertrand;
Erlandsson, Anna;
Suri, Mohnish;
Sangu, Noriko;
Shimada, Shino;
Shimojima, Keiko;
Le Caignec, Cédric;
Samuelsson, Lena;
Stefanova, Margarita

Publication type:

Article

Very early-onset inflammatory bowel disease (IBD) in infancy is a different disease entity from adult-onset IBD; one form of interleukin-10 receptor mutations.

Published in:

Journal of Human Genetics, 2014, v. 59, n. 6, p. 337, doi. 10.1038/jhg.2014.32

By:

Shim, Jung Ok;
Seo, Jeong Kee

Publication type:

Article

Limited evidence for adaptive evolution and functional effect of allelic variation at rs702424 in the promoter of the TAS2R16 bitter taste receptor gene in Africa.

Published in:

Journal of Human Genetics, 2014, v. 59, n. 6, p. 349, doi. 10.1038/jhg.2014.29

By:

Campbell, Michael C;
Ranciaro, Alessia;
Zinshteyn, Daniel;
Rawlings-Goss, Renata;
Hirbo, Jibril;
Thompson, Simon;
Woldemeskel, Dawit;
Froment, Alain;
Omar, Sabah A;
Bodo, Jean-Marie;
Nyambo, Thomas;
Belay, Gurja;
Drayna, Dennis;
Breslin, Paul AS;
Tishkoff, Sarah A

Publication type:

Article

BCOR mutations and unstoppable root growth: a commentary on oculofaciocardiodental syndrome: novel BCOR mutations and expression in dental cells.

Published in:

Journal of Human Genetics, 2014, v. 59, n. 6, p. 297, doi. 10.1038/jhg.2014.31

By:

Kantaputra, Piranit Nik

Publication type:

Article