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

Results: 9

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
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
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
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
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
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