Works matching IS 14345161 AND DT 2002 AND VI 47 AND IP 10

Results: 11

Ovarian cancer of endometrioid type as part of the MSH6 gene mutation phenotype.

Published in:

Journal of Human Genetics, 2002, v. 47, n. 10, p. 529, doi. 10.1007/s100380200079

By:

Suchy, J.;
Kurzawski, G.;
Jakubowska, A.;
Lubiński, J.

Publication type:

Article

Catalog of 86 single-nucleotide polymorphisms (SNPs) in three uridine diphosphate glycosyltransferase genes: UGT2A1, UGT2B15, and UGT8.

Published in:

Journal of Human Genetics, 2002, v. 47, n. 10, p. 505, doi. 10.1007/s100380200075

By:

Iida, A.;
Saito, S.;
Sekine, A.;
Mishima, C.;
Kitamura, Y.;
Kondo, K.;
Harigae, S.;
Osawa, S.;
Nakamura, Y.

Publication type:

Article

Single-nucleotide polymorphisms in the class II region of the major histocompatibility complex in Japanese patients with immunoglobulin A nephropathy.

Published in:

Journal of Human Genetics, 2002, v. 47, n. 10, p. 532, doi. 10.1007/s100380200080

By:

Akiyama, F.;
Tanaka, T.;
Yamada, R.;
Ohnishi, Y.;
Tsunoda, T.;
Maeda, S.;
Takei, T.;
Obara, W.;
Ito, K.;
Honda, K.;
Uchida, K.;
Tsuchiya, K.;
Nitta, K.;
Yumura, W.;
Nihei, H.;
Ujiie, T.;
Nagane, Y.;
Miyano, S.;
Suzuki, Y.;
Fujioka, Tomoaki

Publication type:

Article

Familial 14-Mb deletion at 21q11.2–q21.3 and variable phenotypic expression.

Published in:

Journal of Human Genetics, 2002, v. 47, n. 10, p. 511, doi. 10.1007/s100380200076

By:

Wakui, K.;
Toyoda, A.;
Kubota, T.;
Hidaka, E.;
Ishikawa, M.;
Katsuyama, T.;
Sakaki, Y.;
Hattori, M.;
Fukushima, Y.

Publication type:

Article

Yfm1, a multicopy marker specific for the Y chromosome and beneficial for forensic, population, genetic, and spermatogenesis-related studies.

Published in:

Journal of Human Genetics, 2002, v. 47, n. 10, p. 523, doi. 10.1007/s100380200078

By:

Ewis, A. A.;
Lee, J. W.;
Kuroki, Y.;
Shinka, T.;
Nakahori, Y.

Publication type:

Article

No intraindividual variation of disomy rate in sperm samples.

Published in:

Journal of Human Genetics, 2002, v. 47, n. 10, p. 539, doi. 10.1007/s100380200081

By:

Amiel, A.;
Bartoov, B.;
Pevsner, D.;
Sardos-Albertini, F.;
Fejgin, M. D.

Publication type:

Article

Two families with Wilson disease in which siblings showed different phenotypes.

Published in:

Journal of Human Genetics, 2002, v. 47, n. 10, p. 543, doi. 10.1007/s100380200082

By:

Takeshita, Y.;
Shimizu, N.;
Yamaguchi, Y.;
Nakazono, H.;
Saitou, M.;
Fujikawa, Y.;
Aoki, T.

Publication type:

Article

Molecular cloning and characterization of a novel human Rab (Rab2B) gene.

Published in:

Journal of Human Genetics, 2002, v. 47, n. 10, p. 548, doi. 10.1007/s100380200083

By:

Ni, X.;
Ma, Y.;
Cheng, H.;
Jiang, M.;
Guo, L.;
Ji, C.;
Gu, S.;
Cao, Y.;
Xie, Y.;
Mao, Y.

Publication type:

Article

Comparative study on deletions of the dystrophin gene in three Asian populations.

Published in:

Journal of Human Genetics, 2002, v. 47, n. 10, p. 552, doi. 10.1007/s100380200084

By:

Lai, P.-S.;
Takeshima, Y.;
Adachi, K.;
van Tran, K.;
Nguyen, H. Thi;
Low, P.-S.;
Matsuo, M.

Publication type:

Article

Structural analysis of the chimeric CYP21P/CYP21 gene in steroid 21-hydroxylase deficiency.

Published in:

Journal of Human Genetics, 2002, v. 47, n. 10, p. 517, doi. 10.1007/s100380200077

By:

Lee, H.-H.;
Niu, D.-M.;
Lin, R.-W.;
Chan, P.;
Lin, C.-Y.

Publication type:

Article

A girl with 1p36 deletion syndrome and congenital fiber type disproportion myopathy.

Published in:

Journal of Human Genetics, 2002, v. 47, n. 10, p. 556, doi. 10.1007/s100380200085

By:

Okamoto, N.;
Toribe, Y.;
Nakajima, T.;
Okinaga, T.;
Kurosawa, K.;
Nonaka, I.;
Shimokawa, O.;
Matsumoto, N.

Publication type:

Article