Works in Journal of Human Genetics, 2001, Vol 46, Issue 10

Results: 10

Linkage disequilibrium and haplotype analysis among four novel single-nucleotide polymorphisms in the human leukemia inhibitory factor (LIF) gene.
Published in:
Journal of Human Genetics, 2001, v. 46, n. 10, p. 557, doi. 10.1007/s100380170020
By:
- Ishida, R.;
- Ezura, Y.;
- Iwasaki, H.;
- Nakazawa, I.;
- Kajita, M.;
- Kodaira, M.;
- Ito, H.;
- Emi, M.
Publication type:
Article
Eight novel mutations of the androgen receptor gene in patients with androgen insensitivity syndrome.
Published in:
Journal of Human Genetics, 2001, v. 46, n. 10, p. 560
By:
- Chávez, B.;
- Méndez, J. P.;
- Ulloa-Aguirre, A.;
- Larrea, F.;
- Vilchis, F.
Publication type:
Article
Identification of GFAT1-L, a novel splice variant of human glutamine: fructose-6-phosphate amidotransferase (GFAT1) that is expressed abundantly in skeletal muscle.
Published in:
Journal of Human Genetics, 2001, v. 46, n. 10, p. 566, doi. 10.1007/s100380170022
By:
- Niimi, M.;
- Ogawara, T.;
- Yamashita, T.;
- Yamamoto, Y.;
- Ueyama, A.;
- Kambe, T.;
- Okamoto, T.;
- Ban, T.;
- Tamanoi, H.;
- Ozaki, K.;
- Fujiwara, T.;
- Fukui, H.;
- Takahashi, E.;
- Kyushiki, H.;
- Tanigami, A.
Publication type:
Article
Germline transmission of a transferred human chromosome 21 fragment in transchromosomal mice.
Published in:
Journal of Human Genetics, 2001, v. 46, n. 10, p. 600, doi. 10.1007/s100380170028
By:
- Kazuki, Y.;
- Shinohara, T.;
- Tomizuka, K.;
- Katoh, M.;
- Ohguma, A.;
- Ishida, I.;
- Oshimura, M.
Publication type:
Article
Diagnosis of Alexander disease in a Japanese patient by molecular genetic analysis.
Published in:
Journal of Human Genetics, 2001, v. 46, n. 10, p. 579, doi. 10.1007/s100380170024
By:
- Shiroma, N.;
- Kanazawa, N.;
- Izumi, M.;
- Sugai, K.;
- Fukumizu, M.;
- Sasaki, M.;
- Hanaoka, S.;
- Kaga, M.;
- Tsujino, S.
Publication type:
Article
The DIRC1 gene at chromosome 2q33 spans a familial RCC-associated t(2;3)(q33;q21) chromosome translocation.
Published in:
Journal of Human Genetics, 2001, v. 46, n. 10, p. 583, doi. 10.1007/s100380170025
By:
- Druck, T.;
- Podolski, J.;
- Byrski, T.;
- Wyrwicz, L.;
- Zajaczek, S.;
- Kata, G.;
- Borowka, A.;
- Lubinski, J.;
- Huebner, K.
Publication type:
Article
Catalog of 46 single-nucleotide polymorphisms (SNPs) in the microsomal glutathione S-transferase 1 (MGST1) gene.
Published in:
Journal of Human Genetics, 2001, v. 46, n. 10, p. 590, doi. 10.1007/s100380170026
By:
- Iida, A.;
- Saito, S.;
- Sekine, A.;
- Harigae, S.;
- Osawa, S.;
- Mishima, C.;
- Kondo, K.;
- Kitamura, Y.;
- Nakamura, Y.
Publication type:
Article
Frequency and clinical features of patients with sensorineural hearing loss associated with the A3243G mutation of the mitochondrial DNA in otorhinolaryngic clinics.
Published in:
Journal of Human Genetics, 2001, v. 46, n. 10, p. 595, doi. 10.1007/s100380170027
By:
- Nagata, H.;
- Kumahara, K.;
- Tomemori, T.;
- Arimoto, Y.;
- Isoyama, K.;
- Yoshida, K.;
- Konno, A.
Publication type:
Article
Characterization of genomic rearrangements of the α[sub 1] -acid glycoprotein/orosomucoid gene in Ghanaians.
Published in:
Journal of Human Genetics, 2001, v. 46, n. 10, p. 572, doi. 10.1007/s100380170023
By:
- Yuasa, I.;
- Nakamura, H.;
- Henke, L.;
- Henke, J.;
- Nakagawa, M.;
- Irizawa, Y.;
- Umetsu, K.
Publication type:
Article
High-density single-nucleotide polymorphism (SNP) map in the 96-kb region containing the entire human DiGeorge syndrome critical region 2 (DGCR2) gene at 22q11.2.
Published in:
Journal of Human Genetics, 2001, v. 46, n. 10, p. 604, doi. 10.1007/s100380170029
By:
- Iida, A.;
- Ohnishi, Y.;
- Ozaki, K.;
- Ariji, Y.;
- Nakamura, Y.;
- Tanaka, T.
Publication type:
Article