Works matching IS 14345161 AND DT 2001 AND VI 46 AND IP 7

Results: 10

Clinical and genetic features of nonsyndromic autosomal dominant sensorineural hearing loss: KCNQ4 is a gene responsible in Japanese.
Published in:
Journal of Human Genetics, 2001, v. 46, n. 7, p. 355, doi. 10.1007/s100380170053
By:
- Akita, J.;
- Abe, S.;
- Shinkawa, H.;
- Kimberling, W. J.;
- Usami, S.
Publication type:
Article
Characterization of the human β4 nAChR gene and polymorphisms in CHRNA3 and CHRNB4.
Published in:
Journal of Human Genetics, 2001, v. 46, n. 7, p. 362, doi. 10.1007/PL00010921
By:
- Lev-Lehman, E.;
- Bercovich, D.;
- Xu, W.;
- Stockton, D. W.;
- Beaudet, A. L.
Publication type:
Article
Linkage disequilibrium and haplotype analysis among eight novel single-nucleotide polymorphisms in the human tissue-type plasminogen activator (t-PA) gene.
Published in:
Journal of Human Genetics, 2001, v. 46, n. 7, p. 367, doi. 10.1007/s100380170055
By:
- Nakazawa, I.;
- Nakajima, T.;
- Ishigami, T.;
- Umemura, S.;
- Emi, M.
Publication type:
Article
Definition of a 1-Mb homozygous deletion at 9q32-q33 in a human bladder-cancer cell line.
Published in:
Journal of Human Genetics, 2001, v. 46, n. 7, p. 372, doi. 10.1007/s100380170056
By:
- Fujiwara, H.;
- Emi, M.;
- Nagai, H.;
- Ohgaki, K.;
- Imoto, I.;
- Akimoto, M.;
- Ogawa, O.;
- Habuchi, T.
Publication type:
Article
Chromosomal localization, structure, single-nucleotide polymorphisms, and expression of the human H-protein gene of the glycine cleavage system (GCSH), a candidate gene for nonketotic hyperglycinemia.
Published in:
Journal of Human Genetics, 2001, v. 46, n. 7, p. 378, doi. 10.1007/s100380170057
By:
- Kure, S.;
- Kojima, K.;
- Kudo, T.;
- Kanno, K.;
- Aoki, Y.;
- Suzuki, Y.;
- Shinka, T.;
- Sakata, Y.;
- Narisawa, K.;
- Matsubara, Y.
Publication type:
Article
Catalog of 434 single-nucleotide polymorphisms (SNPs) in genes of the alcohol dehydrogenase, glutathione S-transferase, and nicotinamide adenine dinucleotide, reduced (NADH) ubiquinone oxidoreductase families.
Published in:
Journal of Human Genetics, 2001, v. 46, n. 7, p. 385, doi. 10.1007/s100380170058
By:
- Iida, A.;
- Saito, S.;
- Sekine, A.;
- Kitamoto, T.;
- Kitamura, Y.;
- Mishima, C.;
- Osawa, S.;
- Kondo, K.;
- Harigae, S.;
- Nakamura, Y.
Publication type:
Article
Gene fusion involving HMGIC is a frequent aberration in uterine leiomyomas.
Published in:
Journal of Human Genetics, 2001, v. 46, n. 7, p. 408, doi. 10.1007/s100380170059
By:
- Mine, N.;
- Kurose, K.;
- Nagai, H.;
- Doi, D.;
- Ota, Y.;
- Yoneyama, K.;
- Konishi, H.;
- Araki, T.;
- Emi, M.
Publication type:
Article
The genomic structure and expression of MJD, the Machado-Joseph disease gene.
Published in:
Journal of Human Genetics, 2001, v. 46, n. 7, p. 413, doi. 10.1007/s100380170060
By:
- Ichikawa, Y.;
- Goto, J.;
- Hattori, M.;
- Toyoda, A.;
- Ishii, K.;
- Jeong, S.-Y.;
- Hashida, H.;
- Masuda, N.;
- Ogata, K.;
- Kasai, F.;
- Hirai, M.;
- Maciel, P.;
- Rouleau, G. A.;
- Sakaki, Y.;
- Kanazawa, I.
Publication type:
Article
Single nucleotide polymorphisms of RXRA encoding retinoid X receptor alpha.
Published in:
Journal of Human Genetics, 2001, v. 46, n. 7, p. 423, doi. 10.1007/s100380170061
By:
- Hegele, R. A.;
- Cao, H.
Publication type:
Article
Two mutations of the Gsα gene in two Japanese patients with sporadic pseudohypoparathyroidism type Ia.
Published in:
Journal of Human Genetics, 2001, v. 46, n. 7, p. 426, doi. 10.1007/s100380170062
By:
- Ishikawa, Y.;
- Tajima, T.;
- Nakae, J.;
- Nagashima, T.;
- Satoh, K.;
- Okuhara, K.;
- Fujieda, K.
Publication type:
Article