Works matching IS 14345161 AND DT 2004 AND VI 49 AND IP 5

Results: 9

Phenotype–genotype correlation in two patients with 12q proximal deletion.

Published in:

Journal of Human Genetics, 2004, v. 49, n. 5, p. 282, doi. 10.1007/s10038-004-0144-5

By:

Miyake, Noriko;
Tonoki, Hidefumi;
Gallego, Marta;
Harada, Naoki;
Shimokawa, Osamu;
Yoshiura, Koh-ichiro;
Ohta, Tohru;
Kishino, Tatsuya;
Niikawa, Norio;
Matsumoto, Naomichi

Publication type:

Article

Polymorphisms within a polymorphism: SNPs in and around a polymorphic Alu insertion in intron 44 of the human dystrophin gene.

Published in:

Journal of Human Genetics, 2004, v. 49, n. 5, p. 269, doi. 10.1007/s10038-004-0138-3

By:

Lovell, Alan D.;
Yotova, Vania;
Fengxia Xiao;
Batzer, Mark A.;
Labuda, Damian

Publication type:

Article

Characterization of liver-cirrhosis nodules by analysis of gene-expression profiles and patterns of allelic loss.

Published in:

Journal of Human Genetics, 2004, v. 49, n. 5, p. 246, doi. 10.1007/s10038-004-0141-8

By:

Nagai, Hisaki;
Terada, Yoshie;
Tajiri, Takashi;
Yabe, Aya;
Onda, Masamitsu;
Nagahata, Takemitsu;
Ezura, Yoichi;
Minegishi, Masaharu;
Horiguchi, Maya;
Baba, Masaru;
Konishi, Noboru;
Emi, Mitsuru

Publication type:

Article

Haplotype architecture of the norepinephrine transporter gene SLC6A2 in four populations.

Published in:

Journal of Human Genetics, 2004, v. 49, n. 5, p. 232, doi. 10.1007/s10038-004-0140-9

By:

Belfer, Inna;
Phillips, Gabriel;
Taubman, Julie;
Hipp, Heather;
Lipsky, Robert H.;
Enoch, Mary-Anne;
Max, Mitchell B.;
Goldman, David

Publication type:

Article

Dlx5, the mouse homologue of the human-imprinted DLX5 gene, is biallelically expressed in the mouse brain.

Published in:

Journal of Human Genetics, 2004, v. 49, n. 5, p. 273, doi. 10.1007/s10038-004-0139-2

By:

Kimura, Motoshi I.;
Kazuki, Yasuhiro;
Kashiwagi, Akiko;
Kai, Yoshiteru;
Abe, Satoshi;
Barbieri, Ottavia;
Levi, Giovanni;
Oshimura, Mitsuo

Publication type:

Article

Characterization of the human nasal embryonic LHRH factor gene, NELF, and a mutation screening among 65 patients with idiopathic hypogonadotropic hypogonadism (IHH).

Published in:

Journal of Human Genetics, 2004, v. 49, n. 5, p. 265, doi. 10.1007/s10038-004-0137-4

By:

Miura, Kiyonori;
Acierno, James S.;
Jr.;
Seminara, Stephanie B.

Publication type:

Article

A clinical and genetic study in a large cohort of patients with spinocerebellar ataxia type 6.

Published in:

Journal of Human Genetics, 2004, v. 49, n. 5, p. 256, doi. 10.1007/s10038-004-0142-7

By:

Takahashi, Hiroki;
Ishikawa, Kinya;
Tsutsumi, Takeshi;
Fujigasaki, Hiroto;
Kawata, Akihiro;
Okiyama, Ryoichi;
Fujita, Tsuneo;
Yoshizawa, Kazuo;
Yamaguchi, Shigeki;
Tomiyasu, Hitoshi;
Yoshii, Fumihito;
Mitani, Kazuko;
Shimizu, Natsue;
Yamazaki, Mineo;
Miyamoto, Tomoyuki;
Orimo, Tomoyuki;
Shoji, Shin'ichi;
Kitamura, Ken;
Mizusawa, Hidehiro

Publication type:

Article

Expression of HSPF1 and LIM in the lymphoblastoid cells derived from patients with bipolar disorder and schizophrenia.

Published in:

Journal of Human Genetics, 2004, v. 49, n. 5, p. 227, doi. 10.1007/s10038-004-0136-5

By:

Iwamoto, Kazuya;
Bundo, Miki;
Washizuka, Shinsuke;
Kakiuchi, Chihiro;
Kato, Tadafumi

Publication type:

Article

A novel susceptibility locus for moyamoya disease on chromosome 8q23.

Published in:

Journal of Human Genetics, 2004, v. 49, n. 5, p. 278, doi. 10.1007/s10038-004-0143-6

By:

Sakurai, Kaoru;
Horiuchi, Yasue;
Ikeda, Hidetoshi;
Ikezaki, Kiyonobu;
Yoshimoto, Takashi;
Fukui, Masashi;
Arinami, Tadao

Publication type:

Article