Works matching IS 14345161 AND DT 2002 AND VI 47 AND IP 9

Results: 11

A novel splice variant of the cell adhesion molecule contactin 4 (CNTN4) is mainly expressed in human brain.

Published in:

Journal of Human Genetics, 2002, v. 47, n. 9, p. 497, doi. 10.1007/s100380200073

By:

Zeng, L.;
Zhang, C.;
Xu, J.;
Ye, X.;
Wu, Q.;
Dai, J.;
Ji, C.;
Gu, S.;
Xie, Y.;
Mao, Y.

Publication type:

Article

Chromosome 3p and breast cancer.

Published in:

Journal of Human Genetics, 2002, v. 47, n. 9, p. 453, doi. 10.1007/s100380200064

By:

Yang, Q.;
Yoshimura, G.;
Mori, I.;
Sakurai, T.;
Kakudo, K.

Publication type:

Article

MYEOV, a gene at 11q13, is coamplified with CCND1, but epigenetically inactivated in a subset of esophageal squamous cell carcinomas.

Published in:

Journal of Human Genetics, 2002, v. 47, n. 9, p. 460, doi. 10.1007/s100380200065

By:

Janssen, J. W. G.;
Imoto, I.;
Inoue, J.;
Shimada, Y.;
Ueda, M.;
Imamura, M.;
Bartram, C. R.;
Inazawa, J.

Publication type:

Article

Transmission of Y chromosomal microdeletions from father to son through intracytoplasmic sperm injection.

Published in:

Journal of Human Genetics, 2002, v. 47, n. 9, p. 465, doi. 10.1007/s100380200066

By:

Komori, S.;
Kato, H.;
Kobayashi, S.;
Koyama, K.;
Isojima, S.

Publication type:

Article

SNP genotyping in the β[sub 2] -adrenergic receptor by electronic microchip assay, DHPLC, and direct sequencing.

Published in:

Journal of Human Genetics, 2002, v. 47, n. 9, p. 500, doi. 10.1007/s100380200074

By:

Yoshida, N.;
Nishimaki, Y.;
Sugiyama, M.;
Abe, T.;
Tatsumi, T.;
Tanoue, A.;
Hirasawa, A.;
Tsujimoto, G.

Publication type:

Article

A novel missense mutation (I344K) in the SPG4 gene in a Korean family with autosomal-dominant hereditary spastic paraplegia.

Published in:

Journal of Human Genetics, 2002, v. 47, n. 9, p. 473, doi. 10.1007/s100380200068

By:

Ki, C.-S.;
Lee, W. Y.;
Han, D. H.;
Sung, D. H.;
Lee, K.-B.;
Lee, K.-A;
Cho, S. S.;
Cho, S.;
Hwang, H.;
Sohn, K. M.;
Choi, Y. J.;
Kim, J.-W.

Publication type:

Article

A catalog of 106 single-nucleotide polymorphisms (SNPs) and 11 other types of variations in genes for transforming growth factor-β1 (TGF-β1) and its signaling pathway.

Published in:

Journal of Human Genetics, 2002, v. 47, n. 9, p. 478, doi. 10.1007/s100380200069

By:

Watanabe, Y.;
Kinoshita, A.;
Yamada, T.;
Ohta, T.;
Kishino, T.;
Matsumoto, N.;
Ishikawa, M.;
Niikawa, N.;
Yoshiura, K.

Publication type:

Article

Molecular analysis of the α-N-acetylglucosaminidase gene in seven Japanese patients from six unrelated families with mucopolysaccharidosis IIIB (Sanfilippo type B), including two novel mutations.

Published in:

Journal of Human Genetics, 2002, v. 47, n. 9, p. 484, doi. 10.1007/s100380200070

By:

Tanaka, A.;
Kimura, M.;
Lan, H. T. N.;
Takaura, N.;
Yamano, T.

Publication type:

Article

Chromosomal FISH analysis of unfertilized human oocytes and polar bodies.

Published in:

Journal of Human Genetics, 2002, v. 47, n. 9, p. 488, doi. 10.1007/s100380200071

By:

Honda, N.;
Miharu, N.;
Hara, T.;
Samura, O.;
Honda, H.;
Ohama, K.

Publication type:

Article

Functional promoter polymorphism in SREBP cleavage-activating protein (SCAP).

Published in:

Journal of Human Genetics, 2002, v. 47, n. 9, p. 492, doi. 10.1007/s100380200072

By:

Cao, H.;
Miskie, B. A.;
Hegele, R. A.

Publication type:

Article

Absence of mutation in the NOD2/CARD15 gene among 483 Japanese patients with Crohn's disease.

Published in:

Journal of Human Genetics, 2002, v. 47, n. 9, p. 469, doi. 10.1007/s100380200067

By:

Yamazaki, K.;
Takazoe, M.;
Tanaka, T.;
Kazumori, T.;
Nakamura, Y.

Publication type:

Article