Works matching IS 14345161 AND DT 2003 AND VI 48 AND IP 6

Results: 10

Molecular characterisation of a 15 Mb constitutional de novo interstitial deletion of chromosome 3p in a boy with developmental delay and congenital anomalies.

Published in:

Journal of Human Genetics, 2003, v. 48, n. 6, p. 283, doi. 10.1007/s10038-003-0023-5

By:

Petek, Erwin;
Windpassinger, Christian;
Simma, Burkhard;
Mueller, Thomas;
Wagner, Klaus;
Kroisel, Peter M.

Publication type:

Article

Association of natural tooth loss with genetic variation at the human matrix Gla protein locus in elderly women.

Published in:

Journal of Human Genetics, 2003, v. 48, n. 6, p. 288, doi. 10.1007/s10038-003-0024-4

By:

Hirano, Hirohiko;
Ezura, Yoichi;
Ishiyama, Naoyoshi;
Yamaguchi, Masatsune;
Nasu, Ikuo;
Yoshida, Hideo;
Suzuki, Takao;
Hosoi, Takayuki;
Emi, Mitsuru

Publication type:

Article

Identification of mutations in the Bruton's tyrosine kinase gene, including a novel genomic rearrangements resulting in large deletion, in Korean X-linked agammaglobulinemia patients.

Published in:

Journal of Human Genetics, 2003, v. 48, n. 6, p. 322, doi. 10.1007/s10038-003-0032-4

By:

Jo, Eun-Kyeong;
Wang, Yue;
Kanegane, Hirokazu;
Futatani, Takeshi;
Song, Chang-Hwa;
Park, Jeong-Kyu;
Kim, Jung Soo;
Kim, Dong Soo;
Ahn, Kang-Mo;
Lee, Sang-Il;
Park, Hyeon Jin;
Hahn, Youn Soo;
Lee, Jae-Ho;
Miyawaki, Toshio

Publication type:

Article

The role of the IKAP gene polymorphisms in atopic diseases in the middle European population.

Published in:

Journal of Human Genetics, 2003, v. 48, n. 6, p. 300, doi. 10.1007/s10038-003-0028-0

By:

Schüller, Marcel;
Izakovičová Hollá, Lydie;
Bučková, Dana;
Znojil, Vladimír;
Štelcl, Marcel;
Rybníček, Ondřej;
Vácha, Jiří

Publication type:

Article

Hypertriglyceridemia associated with amino acid variation Asn985Tyr of the RP1 gene.

Published in:

Journal of Human Genetics, 2003, v. 48, n. 6, p. 305, doi. 10.1007/s10038-003-0029-z

By:

Fujita, Yuko;
Ezura, Yoichi;
Emi, Mitsuru;
Ono, Shuji;
Takada, Daisuke;
Takahashi, Kaneo;
Uemura, Kouhei;
Iino, Yasuhiko;
Katayama, Yasuo;
Bujo, Hideaki;
Saito, Yasushi

Publication type:

Article

Association of positional and functional candidate genes FGF1, FBN2, and LOX on 5q31 with intracranial aneurysm.

Published in:

Journal of Human Genetics, 2003, v. 48, n. 6, p. 309, doi. 10.1007/s10038-003-0030-6

By:

Yoneyama, Taku;
Kasuya, Hidetoshi;
Onda, Hideaki;
Akagawa, Hiroyuki;
Jinnai, Nobuyoshi;
Nakajima, Toshiaki;
Hori, Tomokatsu;
Inoue, Ituro

Publication type:

Article

Cloning and characterization of a novel gene which encodes a protein interacting with the mitosis-associated kinase-like protein NTKL.

Published in:

Journal of Human Genetics, 2003, v. 48, n. 6, p. 315, doi. 10.1007/s10038-003-0031-5

By:

Di, Yujun;
Li, Jinjun;
Fang, Ji;
Xu, Zhigang;
He, Xianghuo;
Zhang, Fengrui;
Ling, Jiqiang;
Li, Xinrui;
Xu, Dongbin;
Li, Li;
Li, Yu-Yang;
Huo, Keke

Publication type:

Article

Association of single-nucleotide polymorphisms in the polymeric immunoglobulin receptor gene with immunoglobulin A nephropathy (IgAN) in Japanese patients.

Published in:

Journal of Human Genetics, 2003, v. 48, n. 6, p. 293, doi. 10.1007/s10038-003-0027-1

By:

Obara, Wataru;
Iida, Aritoshi;
Suzuki, Yasushi;
Tanaka, Toshihiro;
Akiyama, Fumihiro;
Maeda, Shiro;
Ohnishi, Yozo;
Yamada, Ryo;
Tsunoda, Tatsuhiko;
Takei, Takashi;
Ito, Kyoko;
Honda, Kazuho;
Uchida, Keiko;
Tsuchiya, Ken;
Yumura, Wako;
Ujiie, Takashi;
Nagane, Yutaka;
Nitta, Kosaku;
Miyano, Satoru;
Narita, Ichiei

Publication type:

Article

Establishment of a method of anonymization of DNA samples in genetic research.

Published in:

Journal of Human Genetics, 2003, v. 48, n. 6, p. 327, doi. 10.1007/s10038-003-0022-6

By:

Hara, Kazuo;
Ohe, Kazuhiko;
Kadowaki, Takashi;
Kato, Naoya;
Imai, Yasushi;
Tokunaga, Katsushi;
Nagai, Ryozo;
Omata, Masao

Publication type:

Article

GPC5 is a possible target for the 13q31-q32 amplification detected in lymphoma cell lines.

Published in:

Journal of Human Genetics, 2003, v. 48, n. 6, p. 331, doi. 10.1007/s10038-003-0026-2

By:

Yu, Wei;
Inoue, Jun;
Imoto, Issei;
Matsuo, Yoshinobu;
Karpas, Abraham;
Inazawa, Johji

Publication type:

Article