Works matching IS 14345161 AND DT 1999 AND VI 44 AND IP 6

Results: 19

Chromosomal imbalances in adult T-cell leukemia revealed by comparative genomic hybridization: gains at 14q32 and 2p16-22 in cell lines.
Published in:
Journal of Human Genetics, 1999, v. 44, n. 6, p. 357, doi. 10.1007/s100380050178
By:
- Ariyama, Y.;
- Mori, T.;
- Shinomiya, T.;
- Sakabe, T.;
- Fukuda, Y.;
- Kanamaru, A.;
- Yamada, Y.;
- Isobe, M.;
- Seto, M.;
- Nakamura, Y.;
- Inazawa, J.
Publication type:
Article
A novel LDLR mutation, H190Y, in a Utah kindred with familial Hypercholesterolemia.
Published in:
Journal of Human Genetics, 1999, v. 44, n. 6, p. 364, doi. 10.1007/s100380050179
By:
- Hopkins, Paul N.;
- Wu, Lily L.;
- Stephenson, Susan H.;
- Xin, Yuanpei;
- Katsumata, Harumi;
- Nobe, Yukiko;
- Nakajima, Toshiaki;
- Hirayama, Tsunenori;
- Emi, Mitsuru;
- Williams, Roger R.
Publication type:
Article
Mutation screening of phenylketonuria in the Far East of Russia.
Published in:
Journal of Human Genetics, 1999, v. 44, n. 6, p. 368, doi. 10.1007/s100380050180
By:
- Sueoka, H.;
- Moshinetsky, A.;
- Nagao, M.;
- Chiba, S.
Publication type:
Article
Mapping of a gene responsible for dermatitis in NOA (Naruto Research Institute Otsuka Atrichia) mice, an animal model of allergic dermatitis.
Published in:
Journal of Human Genetics, 1999, v. 44, n. 6, p. 372, doi. 10.1007/s100380050181
By:
- Natori, K.;
- Tamari, M.;
- Watanabe, O.;
- Onouchi, Y.;
- Shiomoto, Y.;
- Kubo, S.;
- Nakamura, Y.
Publication type:
Article
Molecular characterization of galactokinase deficiency in Japanese patients.
Published in:
Journal of Human Genetics, 1999, v. 44, n. 6, p. 377, doi. 10.1007/s100380050182
By:
- Asada, M.;
- Okano, Y.;
- Imamura, T.;
- Suyama, I.;
- Hase, Y.;
- Isshiki, G.
Publication type:
Article
C16orf5, a novel proline-rich gene at 16p13.3, is highly expressed in the brain.
Published in:
Journal of Human Genetics, 1999, v. 44, n. 6, p. 383, doi. 10.1007/s100380050183
By:
- Bhalla, Kavita;
- Eyre, Helen J.;
- Whitmore, Scott A.;
- Sutherland, Grant R.;
- Callen, David F.
Publication type:
Article
Rapid identification of an A1555G mutation in human mitochondrial DNA implicated in aminoglycoside-induced ototoxicity.
Published in:
Journal of Human Genetics, 1999, v. 44, n. 6, p. 388, doi. 10.1007/s100380050184
By:
- Scrimshaw, B. J.;
- Faed, J. M.;
- Tate, W. P.;
- Yun, K.
Publication type:
Article
Mutational analysis of TSC1 and TSC2 genes in Japanese patients with tuberous sclerosis complex.
Published in:
Journal of Human Genetics, 1999, v. 44, n. 6, p. 391, doi. 10.1007/s100380050185
By:
- Zhang, H.;
- Nanba, E.;
- Yamamoto, T.;
- Ninomiya, H.;
- Ohno, K.;
- Mizuguchi, M.;
- Takeshita, K.
Publication type:
Article
Cloning and characterization of the human UDP-N-acetylglucosamine: α-1,3-D-mannoside β-1,4-N-acetylglucosaminyltransferase IV-homologue (hGnT-IV-H) gene.
Published in:
Journal of Human Genetics, 1999, v. 44, n. 6, p. 397, doi. 10.1007/s100380050186
By:
- Furukawa, T.;
- Youssef, E. M.;
- Yatsuoka, T.;
- Yokoyama, T.;
- Makino, N.;
- Inoue, H.;
- Fukushige, S.;
- Hoshi, M.;
- Hayashi, Y.;
- Sunamura, M.;
- Horii, A.
Publication type:
Article
Genomic structure and chromosomal mapping of the human sterol regulatory element binding protein (SREBP) cleavage-activating protein (SCAP) gene.
Published in:
Journal of Human Genetics, 1999, v. 44, n. 6, p. 402, doi. 10.1007/s100380050187
By:
- Nakajima, T.;
- Hamakubo, T.;
- Kodama, T.;
- Inazawa, J.;
- Emi, M.
Publication type:
Article
The human caspase-activated DNase gene (hCAD): genomic structure, exonic single-nucleotide polymorphisms, and a highly polymorphic dinucleotide repeat at the hCAD locus.
Published in:
Journal of Human Genetics, 1999, v. 44, n. 6, p. 408, doi. 10.1007/s100380050188
By:
- Sugimoto, N.;
- Fukuda, Y.;
- Saito-Ohara, F.;
- Kamiyama, R.;
- Nakagawara, A.;
- Mukae, N.;
- Nagata, S.;
- Inazawa, J.
Publication type:
Article
Prader-Willi syndrome in a child with XYY.
Published in:
Journal of Human Genetics, 1999, v. 44, n. 6, p. 412, doi. 10.1007/s100380050189
By:
- Honma, A.;
- Ishii, R.;
- Ito, A.;
- Kato, M.;
- Saitoh, S.;
- Hayasaka, K.
Publication type:
Article
A polymorphic CA repeat marker at the human 27-kD calbindin (CALB1) locus.
Published in:
Journal of Human Genetics, 1999, v. 44, n. 6, p. 414, doi. 10.1007/s100380050190
By:
- Morishima, Ken-ichi;
- Matsuura, Shinya;
- Tauchi, Hiroshi;
- Nakamura, Asako;
- Komatsu, Kenshi
Publication type:
Article
Novel polymorphisms in the upstream region of the human dopamine D4 receptor (DRD4) gene.
Published in:
Journal of Human Genetics, 1999, v. 44, n. 6, p. 416, doi. 10.1007/s100380050191
By:
- Mitsuyasu, Hiroshi;
- Ozawa, Hidetoshi;
- Takeda, Yasuhiko;
- Fukumaki, Yasuyuki
Publication type:
Article
CA repeat polymorphism in the promoter region of the COL1A2 gene.
Published in:
Journal of Human Genetics, 1999, v. 44, n. 6, p. 419, doi. 10.1007/s100380050192
By:
- Dietzsch, Erin;
- Parker, M. Iqbal
Publication type:
Article
A common Ile796Val polymorphism of the human SREBP cleavage-activating protein (SCAP) gene.
Published in:
Journal of Human Genetics, 1999, v. 44, n. 6, p. 421, doi. 10.1007/s100380050193
By:
- Iwaki, Kikumi;
- Nakajima, Toshiaki;
- Ota, Nobutaka;
- Emi, Mitsuru
Publication type:
Article
An Ile/Val polymorphism at codon 1464 of the ATP7A gene.
Published in:
Journal of Human Genetics, 1999, v. 44, n. 6, p. 423, doi. 10.1007/s100380050194
By:
- Ogawa, A.;
- Yamamoto, S.;
- Takayanagi, M.;
- Kogo, T.;
- Kanazawa, M.;
- Kohno, Y.
Publication type:
Article
Dinucleotide repeat polymorphism in the third intron of the NRAMP2/DMT1 gene.
Published in:
Journal of Human Genetics, 1999, v. 44, n. 6, p. 425, doi. 10.1007/s100380050195
By:
- Kishi, F.;
- Fujishima, S.;
- Tabuchi, M.
Publication type:
Article
Novel variants in the promoter region of the CREB gene in schizophrenic patients.
Published in:
Journal of Human Genetics, 1999, v. 44, n. 6, p. 428, doi. 10.1007/s100380050196
By:
- Kawanishi, Y.;
- Harada, S.;
- Tachikawa, H.;
- Okubo, T.;
- Shiraishi, H.
Publication type:
Article