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