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