Works matching IS 14345161 AND DT 2001 AND VI 46 AND IP 12

Results: 10

Characterization of a familial RCC-associated t(2;3)(q33;q21) chromosome translocation.

Published in:

Journal of Human Genetics, 2001, v. 46, n. 12, p. 685, doi. 10.1007/s100380170001

By:

Podolski, J.;
Byrski, T.;
Zajaczek, S.;
Druck, T.;
Zimonjic, D. B.;
Popescu, N. C.;
Kata, G.;
Borowka, A.;
Gronwald, J.;
Lubinski, J.;
Huebner, K.

Publication type:

Article

Genetic polymorphisms in the promoter and 5′ UTR region of the Fc α receptor (CD89) are not associated with a risk of IgA nephropathy.

Published in:

Journal of Human Genetics, 2001, v. 46, n. 12, p. 694, doi. 10.1007/s100380170002

By:

Narita, I.;
Goto, S.;
Saito, N.;
Sakatsume, M.;
Jin, S.;
Omori, K.;
Gejyo, F.

Publication type:

Article

ABCC6 gene polymorphism associated with variation in plasma lipoproteins.

Published in:

Journal of Human Genetics, 2001, v. 46, n. 12, p. 699, doi. 10.1007/s100380170003

By:

Wang, J.;
Near, S.;
Young, K.;
Connelly, P. W.;
Hegele, R. A.

Publication type:

Article

Identification of an aberrant type of rearrangement in the T-cell receptor α/δ locus in adult T-cell leukemia.

Published in:

Journal of Human Genetics, 2001, v. 46, n. 12, p. 706, doi. 10.1007/s100380170004

By:

Saitou, M.;
Sadamori, N.;
Isobe, M.

Publication type:

Article

Identification of nonsynonymous polymorphisms in the superantigen-coding region of IDDMK[sub 1,2] 22 and a pilot study on the association between IDDMK[sub 1,2] 22 and type 1 diabetes.

Published in:

Journal of Human Genetics, 2001, v. 46, n. 12, p. 712, doi. 10.1007/s100380170005

By:

Kinjo, Y.;
Matsuura, N.;
Yokota, Y.;
Ohtsu, S.;
Nomoto, K.;
Komiya, I.;
Sugimoto, J.;
Jinno, Y.;
Takasu, N.

Publication type:

Article

VNTR sequence on human chromosome 11p15 that affects transcriptional activity.

Published in:

Journal of Human Genetics, 2001, v. 46, n. 12, p. 717, doi. 10.1007/s100380170006

By:

Iwashita, S.;
Koyama, K.;
Nakamura, Y.

Publication type:

Article

Identification of six novel MYH9 mutations and genotype–phenotype relationships in autosomal dominant macrothrombocytopenia with leukocyte inclusions.

Published in:

Journal of Human Genetics, 2001, v. 46, n. 12, p. 722, doi. 10.1007/s100380170007

By:

Kunishima, S.;
Matsushita, T.;
Kojima, T.;
Amemiya, N.;
Choi, Y. M.;
Hosaka, N.;
Inoue, M.;
Jung, Y.;
Mamiya, S.;
Matsumoto, K.;
Miyajima, Y.;
Zhang, G.;
Ruan, C.;
Saito, K.;
Song, K. S.;
Yoon, H.-J.;
Kamiya, T.;
Saito, H.

Publication type:

Article

Single-nucleotide polymorphisms of the proprotein convertase subtilisin/kexin type 5 (PCSK5) gene.

Published in:

Journal of Human Genetics, 2001, v. 46, n. 12, p. 730, doi. 10.1007/s100380170008

By:

Cao, H.;
Mok, A.;
Miskie, B.;
Hegele, R. A.

Publication type:

Article

Heterozygous 17-bp deletion in the forkhead transcription factor gene, FOXL2, in a Japanese family with blepharophimosis-ptosis-epicanthus inversus syndrome.

Published in:

Journal of Human Genetics, 2001, v. 46, n. 12, p. 733, doi. 10.1007/s100380170009

By:

Yamada, T.;
Hayasaka, S.;
Matsumoto, M.;
Budu;
Esa, T.;
Hayasaka, Y.;
Endo, M.

Publication type:

Article

LETTER TO THE EDITOR.

Published in:

Journal of Human Genetics, 2001, v. 46, n. 12, p. 737, doi. 10.1007/PL00010919

By:

Ladenvall, Per;
Wall, Ulrika;
Jern, Sverker;
Jern, Christina

Publication type:

Article