Works matching IS 14345161 AND DT 2004 AND VI 49 AND IP 11

Results: 10

ATP53-truncating germline mutation (E287X) in a family with characteristics of both hereditary diffuse gastric cancer and Li-Fraumeni syndrome.

Published in:

Journal of Human Genetics, 2004, v. 49, n. 11, p. 591, doi. 10.1007/s10038-004-0193-9

By:

Kim, Il-Jin;
Kang, Hio;
Shin, Yong;
Park, Hye-Won;
Jang, Sang-Geun;
Han, Song-Yee;
Lim, Sun-Kyung;
Lee, Min;
Chang, Hee;
Ku, Ja-Lok;
Yang, Han-Kwang;
Park, Jae-Gahb

Publication type:

Article

SMARCA2 and THAP11: potential candidates for polyglutamine disorders as evidenced from polymorphism and protein-folding simulation studies.

Published in:

Journal of Human Genetics, 2004, v. 49, n. 11, p. 596, doi. 10.1007/s10038-004-0194-8

By:

Pandey, Neeraj;
Mittal, Uma;
Srivastava, Achal;
Mukerji, Mitali

Publication type:

Article

Association analyses of DNA methyltransferase-1 (DNMT1) polymorphisms with systemic lupus erythematosus.

Published in:

Journal of Human Genetics, 2004, v. 49, n. 11, p. 642, doi. 10.1007/s10038-004-0192-x

By:

Park, Byung;
Kim, Lyoung;
Shin, Hyoung;
Park, Yong;
Uhm, Wan;
Bae, Sang-Cheol

Publication type:

Article

The important role for ßVLDLs binding at the fourth cysteine of first ligand-binding domain in the low-density lipoprotein receptor.

Published in:

Journal of Human Genetics, 2004, v. 49, n. 11, p. 622, doi. 10.1007/s10038-004-0198-4

By:

Iwasaki, Tadao;
Takahashi, Sadao;
Ishihara, Mitsuaki;
Takahashi, Masafumi;
Ikeda, Uichi;
Shimada, Kazuyuki;
Fujino, Takahiro;
Yamamoto, Tokuo;
Hattori, Hiroaki;
Emi, Mitsuru

Publication type:

Article

Comparative study of the haplotype structure and linkage disequilibrium of chromosome 1p36.2 region in the Korean and Japanese populations.

Published in:

Journal of Human Genetics, 2004, v. 49, n. 11, p. 603, doi. 10.1007/s10038-004-0195-7

By:

Akesaka, Tamao;
Lee, Seong-Gene;
Ohashi, Jun;
Bannai, Makoto;
Tsuchiya, Naoyuki;
Yoon, Yongsook;
Tokunaga, Katsushi;
Song, Kyuyoung

Publication type:

Article

Detection of allelic imbalance in the gene expression ofhMSH2orRB1in lymphocytes from pedigrees of hereditary, nonpolyposis, colorectal cancer and retinoblastoma by an RNA difference plot.

Published in:

Journal of Human Genetics, 2004, v. 49, n. 11, p. 635, doi. 10.1007/s10038-004-0201-0

By:

Murakami, Yoshinori;
Isogai, Kana;
Tomita, Hiroyuki;
Sakurai-Yageta, Mika;
Maruyama, Tomoko;
Hidaka, Akio;
Nose, Kiyoshi;
Sugano, Kokichi;
Kaneko, Akihiro

Publication type:

Article

De novo deletions in the paired domain ofPAX6in south Indian aniridic patients.

Published in:

Journal of Human Genetics, 2004, v. 49, n. 11, p. 647, doi. 10.1007/s10038-004-0200-1

By:

Neethirajan, Guruswamy;
Collinson, J.;
Krishnadas, Subbaiah;
Vijayalakshmi, Perumalsamy;
Shashikant, Shetty;
Reena, Chandrashekhar;
Sundaresan, Periasamy

Publication type:

Article

Regional features of autosomal-dominant cerebellar ataxia in Nagano: clinical and molecular genetic analysis of 86 families.

Published in:

Journal of Human Genetics, 2004, v. 49, n. 11, p. 610, doi. 10.1007/s10038-004-0196-6

By:

Shimizu, Yusaku;
Yoshida, Kunihiro;
Okano, Tomomi;
Ohara, Shinji;
Hashimoto, Takao;
Fukushima, Yoshimitsu;
Ikeda, Shu-ichi

Publication type:

Article

Genome-wide linkage analysis of type 2 diabetes mellitus reconfirms the susceptibility locus on 11p13-p12 in Japanese.

Published in:

Journal of Human Genetics, 2004, v. 49, n. 11, p. 629, doi. 10.1007/s10038-004-0199-3

By:

Nawata, Hajime;
Shirasawa, Senji;
Nakashima, Naoki;
Araki, Eiichi;
Hashiguchi, Jun;
Miyake, Seibei;
Yamauchi, Teruaki;
Hamaguchi, Kazuyuki;
Yoshimatsu, Hironobu;
Takeda, Haruo;
Fukushima, Hideo;
Sasahara, Takayuki;
Yamaguchi, Kohei;
Sonoda, Noriyuki;
Sonoda, Tomoko;
Matsumoto, Masahiro;
Tanaka, Yoshiya;
Sugimoto, Hidekatsu;
Tsubouchi, Hirotaka;
Inoguchi, Toyoshi

Publication type:

Article

The molecular basis of phenylketonuria in Koreans.

Published in:

Journal of Human Genetics, 2004, v. 49, n. 11, p. 617, doi. 10.1007/s10038-004-0197-5

By:

Lee, Dong;
Koo, Soo;
Lee, Kwang-Soo;
Yeon, Young-Joo;
Oh, Hyun-Jeong;
Kim, Sang-Wun;
Lee, Sook-Jin;
Kim, Sung-Soo;
Lee, Jong-Eun;
Jo, Inho;
Jung, Sung-Chul

Publication type:

Article