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

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

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