Works matching IS 14345161 AND DT 2007 AND VI 52 AND IP 12

Results: 12

Establishment of immortalized Schwann cells from Fabry mice and their low uptake of recombinant α-galactosidase.
Published in:
Journal of Human Genetics, 2007, v. 52, n. 12, p. 1018, doi. 10.1007/s10038-007-0210-x
By:
- Kawashima, Ikuo;
- Watabe, Kazuhiko;
- Tajima, Youichi;
- Fukushige, Tomoko;
- Kanzaki, Tamotsu;
- Kanekura, Takuro;
- Sugawara, Kanako;
- Ohyanagi, Naho;
- Suzuki, Toshihiro;
- Togawa, Tadayasu;
- Sakuraba, Hitoshi
Publication type:
Article
The ins and outs of population relationships in west-Mediterranean islands: data from autosomal Alu polymorphisms and Alu/STR compound systems.
Published in:
Journal of Human Genetics, 2007, v. 52, n. 12, p. 999, doi. 10.1007/s10038-007-0206-6
By:
- Gonzalez-Perez, E.;
- Moral, P.;
- Via, M.;
- Vona, G.;
- Varesi, L.;
- Santamaria, J.;
- Gaya-Vidal, M.;
- Esteban, E.
Publication type:
Article
Recurrent ATP1A2 mutations in Portuguese families with familial hemiplegic migraine.
Published in:
Journal of Human Genetics, 2007, v. 52, n. 12, p. 990, doi. 10.1007/s10038-007-0205-7
By:
- Castro, Maria-José;
- Stam, Anine H.;
- Lemos, Carolina;
- Barros, José;
- Gouveia, Raquel G.;
- Martins, Isabel Pavão;
- Koenderink, Jan B.;
- Vanmolkot, Kaate R. J.;
- Mendes, Alexandre P.;
- Frants, Rune R.;
- Ferrari, Michel D.;
- Sequeiros, Jorge;
- Pereira-Monteiro, José M.;
- van den Maagdenberg, Arn M. J. M.
Publication type:
Article
A genome-wide scan in forty large pedigrees with multiple sclerosis.
Published in:
Journal of Human Genetics, 2007, v. 52, n. 12, p. 955, doi. 10.1007/s10038-007-0194-6
By:
- Willer, Cristen J.;
- Dyment, David A.;
- Cherny, Stacey;
- Ramagopalan, Sreeram V.;
- Herrera, Blanca M.;
- Morrison, Katie M. E.;
- Sadovnick, A. Dessa;
- Risch, Neil J.;
- Ebers, George C.
Publication type:
Article
Novel mutations in five Japanese patients with 3-methylcrotonyl-CoA carboxylase deficiency.
Published in:
Journal of Human Genetics, 2007, v. 52, n. 12, p. 1040, doi. 10.1007/s10038-007-0211-9
By:
- Uematsu, Mitsugu;
- Sakamoto, Osamu;
- Sugawara, Noriko;
- Kumagai, Naonori;
- Morimoto, Tetsuji;
- Yamaguchi, Seiji;
- Hasegawa, Yuki;
- Kobayashi, Hironori;
- Ihara, Kenji;
- Yoshino, Makoto;
- Watanabe, Yoriko;
- Inokuchi, Takahiro;
- Yokoyama, Takato;
- Kiwaki, Kohji;
- Nakamura, Kimitoshi;
- Endo, Fumio;
- Tsuchiya, Shigeru;
- Ohura, Toshihiro
Publication type:
Article
FTO polymorphisms in oceanic populations.
Published in:
Journal of Human Genetics, 2007, v. 52, n. 12, p. 1031, doi. 10.1007/s10038-007-0198-2
By:
- Ohashi, Jun;
- Naka, Izumi;
- Kimura, Ryosuke;
- Natsuhara, Kazumi;
- Yamauchi, Taro;
- Furusawa, Takuro;
- Nakazawa, Minato;
- Ataka, Yuji;
- Patarapotikul, Jintana;
- Nuchnoi, Pornlada;
- Tokunaga, Katsushi;
- Ishida, Takafumi;
- Inaoka, Tsukasa;
- Matsumura, Yasuhiro;
- Ohtsuka, Ryutaro
Publication type:
Article
Genetic sequence variations and ADPRT haplotype analysis in French Canadian families with high risk of breast cancer.
Published in:
Journal of Human Genetics, 2007, v. 52, n. 12, p. 963, doi. 10.1007/s10038-007-0203-9
By:
- Durocher, Francine;
- Labrie, Yvan;
- Ouellette, Geneviève;
- Simard, Jacques
Publication type:
Article
No evidence for significant association between GABA receptor genes in chromosome 15q11–q13 and autism in a Japanese population.
Published in:
Journal of Human Genetics, 2007, v. 52, n. 12, p. 985, doi. 10.1007/s10038-007-0207-5
By:
- Tochigi, Mamoru;
- Kato, Chieko;
- Koishi, Shinko;
- Kawakubo, Yuki;
- Yamamoto, Kenji;
- Matsumoto, Hideo;
- Hashimoto, Ohiko;
- Soo-Yung Kim;
- Watanabe, Keiichiro;
- Kano, Yukiko;
- Nanba, Eiji;
- Kato, Nobumasa;
- Sasaki, Tsukasa
Publication type:
Article
The Tol1 element of medaka fish is transposed with only terminal regions and can deliver large DNA fragments into the chromosomes.
Published in:
Journal of Human Genetics, 2007, v. 52, n. 12, p. 1026, doi. 10.1007/s10038-007-0213-7
By:
- Koga, Akihiko;
- Higashide, Ichizo;
- Hori, Hiroshi;
- Wakamatsu, Yuko;
- Kyono-Hamaguchi, Yoriko;
- Hamaguchi, Satoshi
Publication type:
Article
HSPD1 is not a major susceptibility gene for rheumatoid arthritis in the French Caucasian population.
Published in:
Journal of Human Genetics, 2007, v. 52, n. 12, p. 1036, doi. 10.1007/s10038-007-0201-y
By:
- Jacq, Laurent;
- Teixeira, Vitor Hugo;
- Garnier, Sophie;
- Michou, Laëtitia;
- Dieudé, Philippe;
- Rocha, Dominique;
- Pierlot, Céline;
- Lemaire, Isabelle;
- Quillet, Patrick;
- Hilliquin, Pascal;
- Mbarek, Hamdi;
- Petit-Teixeira, Elisabeth;
- Cornélis, François
Publication type:
Article
Analysis of KRAP expression and localization, and genes regulated by KRAP in a human colon cancer cell line.
Published in:
Journal of Human Genetics, 2007, v. 52, n. 12, p. 978, doi. 10.1007/s10038-007-0204-8
By:
- Fujimoto, Takahiro;
- Koyanagi, Midori;
- Baba, Iwai;
- Nakabayashi, Kazuhiko;
- Kato, Norihiro;
- Sasazuki, Takehiko;
- Shirasawa, Senji
Publication type:
Article
Clinical and molecular characterization of Italian patients affected by Cohen syndrome.
Published in:
Journal of Human Genetics, 2007, v. 52, n. 12, p. 1011, doi. 10.1007/s10038-007-0208-4
By:
- Katzaki, Eleni;
- Pescucci, Chiara;
- Uliana, Vera;
- Papa, Filomena;
- Ariani, Francesca;
- Meloni, Ilaria;
- Priolo, Manuela;
- Selicorni, Angelo;
- Milani, Donatella;
- Fischetto, Rita;
- Celle, Maria Elena;
- Grasso, Rita;
- Dallapiccola, Bruno;
- Brancati, Francesco;
- Bordignon, Marta;
- Tenconi, Romano;
- Federico, Antonio;
- Mari, Francesca;
- Renieri, Alessandra;
- Longo, Ilaria
Publication type:
Article