Works matching IS 14345161 AND DT 2004 AND VI 49 AND IP 8

Results: 9

Rapid detection of FGFR3 gene mutation in achondroplasia by DHPLC system-coupling heteroduplex and fluorescence-enhanced primer-extension analysis.

Published in:

Journal of Human Genetics, 2004, v. 49, n. 8, p. 399, doi. 10.1007/s10038-004-0165-0

By:

Yi-Ning Su;
Chien-Nan Lee;
Shu-Chin Chien;
Chia-Cheng Hung;
Yin-Hsiu Chien;
Chi-An Chen

Publication type:

Article

Identification of 20 novel SNPs in the guanine nucleotide binding protein alpha 12 gene locus.

Published in:

Journal of Human Genetics, 2004, v. 49, n. 8, p. 445, doi. 10.1007/s10038-004-0167-y

By:

Iida, Aritoshi;
Saito, Susumu;
Sekine, Akihiro;
Tabei, Wataru;
Kataoka, Yukie;
Nakamura, Yusuke

Publication type:

Article

Three novel mutations of the fibrillin-1 gene and ten single nucleotide polymorphisms of the fibrillin-3 gene in Marfan syndrome patients.

Published in:

Journal of Human Genetics, 2004, v. 49, n. 8, p. 404, doi. 10.1007/s10038-004-0168-x

By:

Uyeda, Tomomi;
Takahashi, Toru;
Eto, Shuji;
Sato, Takumi;
Xu, Gang;
Kanezaki, Rika;
Toki, Tsutomu;
Yonesaka, Susumu;
Ito, Etsuro

Publication type:

Article

Effect of liver fatty acid binding protein (FABP) T94A missense mutation on plasma lipoprotein responsiveness to treatment with fenofibrate.

Published in:

Journal of Human Genetics, 2004, v. 49, n. 8, p. 424, doi. 10.1007/s10038-004-0171-2

By:

Brouillette, Charles;
Bossé, Yohan;
Pérusse, Louis;
Gaudet, Daniel;
Vohl, Marie-Claude

Publication type:

Article

A 1-Mb critical region in six patients with 9q34.3 terminal deletion syndrome.

Published in:

Journal of Human Genetics, 2004, v. 49, n. 8, p. 440, doi. 10.1007/s10038-004-0166-z

By:

Harada, Naoki;
Visser, Remco;
Dawson, Angie;
Fukamachi, Makoto;
Iwakoshi, Mie;
Okamoto, Nobuhiko;
Kishino, Tatsuya;
Niikawa, Norio;
Matsumoto, Naomichi

Publication type:

Article

An association analysis between ApoA1 polymorphisms and the high-density lipoprotein (HDL) cholesterol level and myocardial infarction (MI) in Japanese.

Published in:

Journal of Human Genetics, 2004, v. 49, n. 8, p. 433, doi. 10.1007/s10038-004-0172-1

By:

Shioji, Keisuke;
Mannami, Toshifumi;
Kokubo, Yoshihiro;
Goto, Yoichi;
Nonogi, Hiroshi;
Iwai, Naoharu

Publication type:

Article

Phylogeographic analysis of mitochondrial DNA haplogroup F2 in China reveals T12338C in the initiation codon of the ND5 gene not to be pathogenic.

Published in:

Journal of Human Genetics, 2004, v. 49, n. 8, p. 414, doi. 10.1007/s10038-004-0170-3

By:

Qing-Peng Kong;
Yong-Gang Yao;
Chang Sun;
Chun-Ling Zhu;
Li Zhong;
Cheng-Ye Wang;
Wang-Wei Cai;
Xiang-Min Xu;
An-Long Xu;
Ya-Ping Zhang

Publication type:

Article

Identification of variants in cyclin D1 (CCND1) and B-Cell CLL/lymphoma 2 (BCL2).

Published in:

Journal of Human Genetics, 2004, v. 49, n. 8, p. 449, doi. 10.1007/s10038-004-0173-0

By:

Byung Lae Park;
Lyoung Hyo Kim;
Hyun Sub Cheong;
Hye Young Cho;
Eun Mi Kim;
Hyoung Doo Shin;
Yong-Sun Kim;
Chaeyoung Lee

Publication type:

Article

Molecular genetic analyses of β-thalassemia in South India reveals rare mutations in the β-globin gene.

Published in:

Journal of Human Genetics, 2004, v. 49, n. 8, p. 408, doi. 10.1007/s10038-004-0169-9

By:

Bashyam, Murali Dharan;
Bashyam, Leena;
Savithri, Gorinabele R.;
Gopikrishna, Munimanda;
Sangal, Vartul;
Devi, Akela Radha Rama

Publication type:

Article