Works matching IS 14345161 AND DT 2008 AND VI 53 AND IP 8

Results: 12

Mutational analysis of ATP7B gene in Egyptian children with Wilson disease: 12 novel mutations.

Published in:

Journal of Human Genetics, 2008, v. 53, n. 8, p. 681, doi. 10.1007/s10038-008-0298-7

By:

Abdelghaffar, Tawhida Y.;
Elsayed, Solaf M.;
Elsobky, Ezzat;
Bochow, Bettina;
Büttner, Janine;
Schmidt, Hartmut

Publication type:

Article

Does increased nuchal translucency indicate a fetal abnormality? A retrospective study to clarify the clinical significance of nuchal translucency in Japan.

Published in:

Journal of Human Genetics, 2008, v. 53, n. 8, p. 688, doi. 10.1007/s10038-008-0299-6

By:

Yoshida, Shigo;
Miura, Kiyonori;
Yamasaki, Kentaro;
Miura, Shoko;
Shimada, Takako;
Tanigawa, Terumi;
Yoshida, Atsushi;
Nakayama, Daisuke;
Masuzaki, Hideaki

Publication type:

Article

Association of genetic variations of genes encoding thrombospondin, type 1, domain-containing 4 and 7A with low bone mineral density in Japanese women with osteoporosis.

Published in:

Journal of Human Genetics, 2008, v. 53, n. 8, p. 694, doi. 10.1007/s10038-008-0300-4

By:

Mori, Seijiro;
Kou, Ikuyo;
Sato, Hidenori;
Emi, Mitsuru;
Ito, Hideki;
Hosoi, Takayuki;
Ikegawa, Shiro

Publication type:

Article

Reconstructing the origin of the Lapita Cultural Complex: mtDNA analyses of East Sepik Province, PNG.

Published in:

Journal of Human Genetics, 2008, v. 53, n. 8, p. 698, doi. 10.1007/s10038-008-0301-3

By:

Vilar, Miguel G.;
Kaneko, Akira;
Hombhanje, Francis W.;
Tsukahara, Takahiro;
Hwaihwanje, Ilomo;
Lum, J. Koji

Publication type:

Article

The SCARB1 gene is associated with lipid response to dietary and pharmacological interventions.

Published in:

Journal of Human Genetics, 2008, v. 53, n. 8, p. 709, doi. 10.1007/s10038-008-0302-2

By:

Yongjun Liu;
Jose J.Ordovas;
Guimin Gao;
Province, Michael;
Straka, Robert J.;
Tsai, Michael Y.;
Chao-Qiang Lai;
Kui Zhang;
Borecki, Ingrid;
Hixson, James E.;
Allison, David B.;
Arnett, Donna K.

Publication type:

Article

Adiponectin gene ADIPOQ SNP associations with serum adiponectin in two female populations and effects of SNPs on promoter activity.

Published in:

Journal of Human Genetics, 2008, v. 53, n. 8, p. 718, doi. 10.1007/s10038-008-0303-1

By:

Kyriakou, Theodosios;
Collins, Laura J.;
Spencer-Jones, Nicola J.;
Malcolm, Claire;
Xiaoling Wang;
Snieder, Harold;
Swaminathan, Ramasamyiyer;
Burling, Keith A.;
Hart, Deborah;
Spector, Tim;
O'Dell, Sandra

Publication type:

Article

Association study of the C3 gene with adult and childhood asthma.

Published in:

Journal of Human Genetics, 2008, v. 53, n. 8, p. 728, doi. 10.1007/s10038-008-0304-0

By:

Inoue, Hiroki;
Mashimo, Yoichi;
Funamizu, Makiko;
Shimojo, Naoki;
Hasegawa, Koichi;
Hirota, Tomomitsu;
Doi, Satoru;
Kameda, Makoto;
Miyatake, Akihiko;
Kohno, Yoichi;
Okamoto, Yoshitaka;
Tamari, Mayumi;
Hata, Akira;
Suzuki, Yoichi

Publication type:

Article

A compound heterozygote of novel and recurrent DTDST mutations results in a novel intermediate phenotype of Desbuquois dysplasia, diastrophic dysplasia, and recessive form of multiple epiphyseal dysplasia.

Published in:

Journal of Human Genetics, 2008, v. 53, n. 8, p. 764, doi. 10.1007/s10038-008-0305-z

By:

Miyake, Atsushi;
Nishimura, Gen;
Futami, Toru;
Ohashi, Hirofumi;
Chiba, Kazuhiro;
Toyama, Yoshiaki;
Furuichi, Tatsuya;
Ikegawa, Shiro

Publication type:

Article

SCN1A, SCN1B, and GABRG2 gene mutation analysis in Chinese families with generalized epilepsy with febrile seizures plus.

Published in:

Journal of Human Genetics, 2008, v. 53, n. 8, p. 769, doi. 10.1007/s10038-008-0306-y

By:

Huihui Sun;
Yuehua Zhang;
Jianmin Liang;
Xiaoyan Liu;
Xiuwei Ma;
Husheng Wu;
Keming Xu;
Jiong Qin;
Yu Qi;
Xiru Wu

Publication type:

Article

Two-stage designs to identify the effects of SNP combinations on complex diseases.

Published in:

Journal of Human Genetics, 2008, v. 53, n. 8, p. 739, doi. 10.1007/s10038-008-0307-x

By:

Guolian Kang;
Weihua Yue;
Jifeng Zhang;
Huebner, Marianne;
Handi Zhang;
Yan Ruan;
Tianlan Lu;
Yansu Ling;
Yijun Zuo;
Dai Zhang

Publication type:

Article

Grouping preprocess to accurately extend application of EM algorithm to haplotype inference.

Published in:

Journal of Human Genetics, 2008, v. 53, n. 8, p. 747, doi. 10.1007/s10038-008-0308-9

By:

Shindo, Hiroyuki;
Chigira, Hiroshi;
Tanaka, Junji;
Kamatani, Naoyuki;
Inoue, Masato

Publication type:

Article

Significant association of ABCG8:D19H gene polymorphism with hypercholesterolemia and insulin resistance.

Published in:

Journal of Human Genetics, 2008, v. 53, n. 8, p. 757, doi. 10.1007/s10038-008-0310-2

By:

Zhih-Cherng Chen;
Shyi-Jang Shin;
Kung-Kai Kuo;
Kun-Der Lin;
Ming-Lung Yu;
Pi-Jung Hsiao

Publication type:

Article