Works matching IS 14345161 AND DT 2003 AND VI 48 AND IP 2

Results: 10

Hypermethylation associated with inactivation of the SOCS-1 gene, a JAK/STAT inhibitor, in human hepatoblastomas.
Published in:
Journal of Human Genetics, 2003, v. 48, n. 2, p. 65, doi. 10.1007/s100380300008
By:
- Nagai, H.;
- Naka, T.;
- Terada, Y.;
- Komazaki, T.;
- Yabe, A.;
- Jin, E.;
- Kawanami, O.;
- Kishimoto, T.;
- Konishi, N.;
- Nakamura, M.;
- Kobayashi, Y.;
- Emi, M.
Publication type:
Article
Identification of two novel RECQL4 exonic SNPs and genomic characterization of the IVS12 minisatellite.
Published in:
Journal of Human Genetics, 2003, v. 48, n. 2, p. 107, doi. 10.1007/s100380300016
By:
- Roversi, G.;
- Beghini, A.;
- Zambruno, G.;
- Paradisi, M.;
- Larizza, L.
Publication type:
Article
Haplotype analysis of the human collectin placenta 1 (hCL-P1) gene.
Published in:
Journal of Human Genetics, 2003, v. 48, n. 2, p. 82, doi. 10.1007/s100380300011
By:
- Ohmori, H.;
- Makita, Y.;
- Funamizu, M.;
- Chiba, S.;
- Ohtani, K.;
- Suzuki, Y.;
- Wakamiya, N.;
- Hata, A.
Publication type:
Article
Novel mutations and phenotypic effect of the splice site modulator IVS3-48C in nine Swedish families with erythropoietic protoporphyria.
Published in:
Journal of Human Genetics, 2003, v. 48, n. 2, p. 70, doi. 10.1007/s100380300009
By:
- Wiman, Å.;
- Floderus, Y.;
- Harper, P.
Publication type:
Article
Severe congenital muscular dystrophy in a Mexican family with a new nonsense mutation (R2578X) in the laminin α-2 gene.
Published in:
Journal of Human Genetics, 2003, v. 48, n. 2, p. 91, doi. 10.1007/s100380300013
By:
- Coral-Vazquez, R. M.;
- Rosas-Vargas, H.;
- Meza-Espinosa, P.;
- Mendoza, I.;
- Huicochea, J. C.;
- Ramon, G.;
- Salamanca, F.
Publication type:
Article
Isolation and characterization of a novel human NM23-H1B gene, a different transcript of NM23-H1.
Published in:
Journal of Human Genetics, 2003, v. 48, n. 2, p. 96, doi. 10.1007/s100380300014
By:
- Ni, X.;
- Gu, S.;
- Dai, J.;
- Cheng, H.;
- Guo, L.;
- Li, L.;
- Ji, C.;
- Xie, Y.;
- Ying, K.;
- Mao, Y.
Publication type:
Article
Association of the –381T/C promoter variation of the brain natriuretic peptide gene with low bone-mineral density and rapid postmenopausal bone loss.
Published in:
Journal of Human Genetics, 2003, v. 48, n. 2, p. 77, doi. 10.1007/s100380300010
By:
- Kajita, M.;
- Ezura, Y.;
- Iwasaki, H.;
- Ishida, R.;
- Yoshida, H.;
- Kodaira, M.;
- Suzuki, T.;
- Hosoi, T.;
- Inoue, S.;
- Shiraki, M.;
- Orimo, H.;
- Emi, M.
Publication type:
Article
Molecular genetics of familial hypertrophic cardiomyopathy (FHC).
Published in:
Journal of Human Genetics, 2003, v. 48, n. 2, p. 55, doi. 10.1007/s100380300007
By:
- Bashyam, M. D.;
- Savithri, G. R.;
- Kumar, M. S.;
- Narasimhan, C.;
- Nallari, P.
Publication type:
Article
A novel mutation of the insulin-like 3 gene in patients with cryptorchidism.
Published in:
Journal of Human Genetics, 2003, v. 48, n. 2, p. 86, doi. 10.1007/s100380300012
By:
- Canto, P.;
- Escudero, I.;
- Söderlund, D.;
- Nishimura, E.;
- Carranza-Lira, S.;
- Gutierrez, J.;
- Nava, A.;
- Mendez, J. P.
Publication type:
Article
Molecular cloning and characterization of the protein 4.1O gene, a novel member of the protein 4.1 family with focal expression in ovary.
Published in:
Journal of Human Genetics, 2003, v. 48, n. 2, p. 101, doi. 10.1007/s100380300015
By:
- Ni, X.;
- Ji, C.;
- Cao, G.;
- Cheng, H.;
- Guo, L.;
- Gu, S.;
- Ying, K.;
- Zhao, R. C.;
- Mao, Y.
Publication type:
Article