Works matching IS 14345161 AND DT 1998 AND VI 43 AND IP 3

Results: 17

VNTR (variable number of tandem repeat) sequences as transcriptional, translational, or functional regulators.

Published in:

Journal of Human Genetics, 1998, v. 43, n. 3, p. 149, doi. 10.1007/s100380050059

By:

Nakamura, Y.;
Koyama, Kumiko;
Matsushima, Mieko

Publication type:

Article

Association and linkage of LDLR gene variation with variation in plasma low density lipoprotein cholesterol.

Published in:

Journal of Human Genetics, 1998, v. 43, n. 3, p. 153, doi. 10.1007/s100380050060

By:

Boright, Andrew P.;
Connelly, Phillip W.;
Brunt, J. Howard;
Morgan, Kenneth;
Hegele, R. A.

Publication type:

Article

A novel missense mutation of the tissue-nonspecific alkaline phosphatase gene detected in a patient with hypophosphatasia.

Published in:

Journal of Human Genetics, 1998, v. 43, n. 3, p. 160, doi. 10.1007/s100380050061

By:

Sugimoto, N.;
Iwamoto, Sadahiko;
Hoshino, Yuichi;
Kajii, Eiji

Publication type:

Article

Heterozygosities and allelic frequencies of 358 dinucleotide-repeat marker loci in the Japanese population.

Published in:

Journal of Human Genetics, 1998, v. 43, n. 3, p. 165, doi. 10.1007/s100380050062

By:

Yamane-Tanaka, Yuka;
Kogawa, Keiko;
Tanaka, Toshihiro;
Nakamura, Y.;
Isomura, Minoru

Publication type:

Article

Expression and chromosomal localization of KIAA0369, a putative kinase structurally related to Doublecortin.

Published in:

Journal of Human Genetics, 1998, v. 43, n. 3, p. 169, doi. 10.1007/s100380050063

By:

Omori, Yoshihiro;
Suzuki, Mikio;
Ozaki, Kouichi;
Harada, Yosuke;
Nakamura, Yusuke;
Takahashi, Ei-ichi;
Fujiwara, T.

Publication type:

Article

Interstitial deletion of chromosome 7q in a patient with Williams syndrome and infantile spasms.

Published in:

Journal of Human Genetics, 1998, v. 43, n. 3, p. 178, doi. 10.1007/s100380050064

By:

Mizugishi, K.;
Yamanaka, Keiko;
Kuwajima, Katsuko;
Kondo, Ikuko

Publication type:

Article

A novel mutation of coproporphyrinogen oxidase (CPO) gene in a Japanese family.

Published in:

Journal of Human Genetics, 1998, v. 43, n. 3, p. 182, doi. 10.1007/s100380050065

By:

Susa, Shinji;
Daimon, M.;
Yamamori, Ikuo;
Kondo, Masao;
Yamatani, Keiichi;
Sasaki, Hideo;
Kato, Takeo

Publication type:

Article

Molecular phylogenetics of the hominoid Y chromosome.

Published in:

Journal of Human Genetics, 1998, v. 43, n. 3, p. 185, doi. 10.1007/s100380050066

By:

Samonte, Rhea V.;
Conte, Robert A;
Verma, R. S.

Publication type:

Article

Identification of amplified DNA sequences on double minute chromosomes in a leukemic cell line KY821 by means of spectral karyotyping and comparative genomic hybridization.

Published in:

Journal of Human Genetics, 1998, v. 43, n. 3, p. 187, doi. 10.1007/s100380050067

By:

Ariyama, Yoji;
Sakabe, Tomoya;
Shinomiya, Takashi;
Mori, Toshiki;
Fukuda, Yoji;
Inazawa, J.

Publication type:

Article

Joint laxity, vitreoretinal degeneration, facial abnormalities, and generalized skeletal alterations: A new syndrome?

Published in:

Journal of Human Genetics, 1998, v. 43, n. 3, p. 191, doi. 10.1007/s100380050068

By:

Nishimura, G.;
Hasegawa, Tomonobu;
Sugii, Kyoko;
Tsuyama, Kaiichiro;
Matsuo, Nobutake

Publication type:

Article

Y-Specific DNA polymorphisms of the YAP element and the locus DYS19 in the Korean population.

Published in:

Journal of Human Genetics, 1998, v. 43, n. 3, p. 195, doi. 10.1007/s100380050069

By:

Kim, Wook;
Shin, Dong Jik;
You, S. A.;
Kim, Y. J.

Publication type:

Article

Novel MEN1 gene mutations in familial multiple endocrine neoplasia type 1.

Published in:

Journal of Human Genetics, 1998, v. 43, n. 3, p. 199, doi. 10.1007/s100380050070

By:

Sakurai, A.;
Shirahama, Shuya;
Fujimori, Minoru;
Katai, Miyuki;
Itakura, Yasunori;
Kobayashi, Shinya;
Amano, Jun;
Fukushima, Yoshimitsu;
Hashizume, Kiyoshi

Publication type:

Article

Isolation, tissue expression, and chromosomal assignment of human RGS5, a novel G-protein signaling regulator gene.

Published in:

Journal of Human Genetics, 1998, v. 43, n. 3, p. 202, doi. 10.1007/s100380050071

By:

Seki, N.;
Sugano, Sumio;
Suzuki, Yutaka;
Nakagawara, Akira;
Ohira, Miki;
Muramatsu, Masa-aki;
Saito, Toshiyuki;
Hori, Tada-aki

Publication type:

Article

Connatal Pelizaeus-Merzbacher disease: A missense mutation in exon 4 of the proteolipid protein (PLP) gene.

Published in:

Journal of Human Genetics, 1998, v. 43, n. 3, p. 206, doi. 10.1007/s100380050072

By:

Nagao, M.;
Kadowaki, Jun-ichi

Publication type:

Article

Assignment of the ZIP kinase gene to human chromosome 19p13.3 by somatic hybrid analysis and fluorescence in-situ hybridization.

Published in:

Journal of Human Genetics, 1998, v. 43, n. 3, p. 209, doi. 10.1007/s100380050073

By:

Saito, T.;
Ohira, Miki;
Hayashi, Akiko;
Kozuma, Sumie;
Hattori, Atsushi;
Hori, Tada-aki;
Seki, N.

Publication type:

Article

Dinucleotide repeat polymorphism in the first intron of the CSR gene.

Published in:

Journal of Human Genetics, 1998, v. 43, n. 3, p. 212, doi. 10.1007/s100380050074

By:

Han, Hye-Jung;
Nakamura, Y.

Publication type:

Article

Novel polymorphisms in the βig-h3 gene.

Published in:

Journal of Human Genetics, 1998, v. 43, n. 3, p. 214, doi. 10.1007/s100380050075

By:

Tsujikawa, M.;
Shimomura, Yoshikazu;
Okada, Masaki;
Yamamoto, Syuji;
Tano, Yasuo;
Kurahashi, Hiroki

Publication type:

Article