Works matching IS 14345161 AND DT 2001 AND VI 46 AND IP 5

Results: 10

Interchromosomal effect leading to an increase in aneuploidy in sperm nuclei in a man heterozygous for pericentric inversion (inv 9) and C-heterochromatin.

Published in:

Journal of Human Genetics, 2001, v. 46, n. 5, p. 245, doi. 10.1007/s100380170073

By:

Amiel, A.;
Sardos-Albertini, F.;
Fejgin, M. D.;
Sharony, R.;
Diukman, R.;
Bartoov, B.

Publication type:

Article

Fragile XE-associated familial mental retardation protein 2 (FMR2) acts as a potent transcription activator.

Published in:

Journal of Human Genetics, 2001, v. 46, n. 5, p. 251, doi. 10.1007/s100380170074

By:

Hillman, M. A.;
Gecz, J.

Publication type:

Article

Analysis of the human pancreatic secretory trypsin inhibitor (PSTI) gene mutations in Japanese patients with chronic pancreatitis.

Published in:

Journal of Human Genetics, 2001, v. 46, n. 5, p. 293, doi. 10.1007/s100380170082

By:

Kaneko, K.;
Nagasaki, Y.;
Furukawa, T.;
Mizutamari, H.;
Sato, A.;
Masamune, A.;
Shimosegawa, T.;
Horii, A.

Publication type:

Article

Diagnosis of Japanese patients with HHH syndrome by molecular genetic analysis: a common mutation, R179X.

Published in:

Journal of Human Genetics, 2001, v. 46, n. 5, p. 260, doi. 10.1007/s100380170075

By:

Miyamoto, T.;
Kanazawa, N.;
Kato, S.;
Kawakami, M.;
Inoue, Y.;
Kuhara, T.;
Inoue, T.;
Takeshita, K.;
Tsujino, S.

Publication type:

Article

A rapid and simple method for sex identification by heteroduplex analysis, using denaturing high-performance liquid chromatography (DHPLC).

Published in:

Journal of Human Genetics, 2001, v. 46, n. 5, p. 263, doi. 10.1007/s100380170076

By:

Shinka, T.;
Naroda, T.;
Tamura, T.;
Sasahara, K.;
Nakahori, Y.

Publication type:

Article

A nucleotide variant in the promoter region of the interleukin-6 gene associated with decreased bone mineral density.

Published in:

Journal of Human Genetics, 2001, v. 46, n. 5, p. 267, doi. 10.1007/s100380170077

By:

Ota, N.;
Nakajima, T.;
Nakazawa, I.;
Suzuki, T.;
Hosoi, T.;
Orimo, H.;
Inoue, S.;
Shirai, Y.;
Emi, M.

Publication type:

Article

The peroxin Pex6p gene is impaired in peroxisomal biogenesis disorders of complementation group 6.

Published in:

Journal of Human Genetics, 2001, v. 46, n. 5, p. 273, doi. 10.1007/s100380170078

By:

Matsumoto, N.;
Tamura, S.;
Moser, A.;
Moser, H. W.;
Braverman, N.;
Suzuki, Y.;
Shimozawa, N.;
Kondo, N.;
Fujiki, Y.

Publication type:

Article

Risk factor-gene interaction in carotid atherosclerosis: effect of gene polymorphisms of renin-angiotensin system.

Published in:

Journal of Human Genetics, 2001, v. 46, n. 5, p. 278, doi. 10.1007/s100380170079

By:

Tabara, Y.;
Kohara, K.;
Nakura, J.;
Miki, T.

Publication type:

Article

Identification of three missense mutations in the peroxisome proliferator-activated receptor α gene in Japanese subjects with maturity-onset diabetes of the young.

Published in:

Journal of Human Genetics, 2001, v. 46, n. 5, p. 285, doi. 10.1007/s100380170080

By:

Hara, M.;
Wang, X.;
Paz, V. P.;
Iwasaki, N.;
Honda, M.;
Iwamoto, Y.;
Bell, G. I.

Publication type:

Article

Cloning and sequencing of a novel human gene which encodes a putative hydroxylase.

Published in:

Journal of Human Genetics, 2001, v. 46, n. 5, p. 289, doi. 10.1007/s100380170081

By:

Iriyama, C.;
Matsuda, S.;
Katsumata, R.;
Hamaguchi, M.

Publication type:

Article