Works matching IS 14345161 AND DT 2007 AND VI 52 AND IP 1

Results: 12

DNA-based diagnosis of malignant osteopetrosis by whole-genome scan using a single-nucleotide polymorphism microarray: standardization of molecular investigations of genetic diseases due to consanguinity.

Published in:

Journal of Human Genetics, 2007, v. 52, n. 1, p. 98, doi. 10.1007/s10038-006-0075-4

By:

Lam, Ching-Wan;
Tong, Sui-Fan;
Wong, Keong;
Luo, Y. F.;
Tang, Hoi-Yin;
Ha, Shau-Yin;
Chan, Michael Ho-Ming

Publication type:

Article

ADAM33 polymorphisms are associated with aspirin-intolerant asthma in the Japanese population.

Published in:

Journal of Human Genetics, 2007, v. 52, n. 1, p. 66, doi. 10.1007/s10038-006-0081-6

By:

Sakagami, Takuro;
Jinnai, Nobuyoshi;
Nakajima, Toshiaki;
Sekigawa, Takashi;
Hasegawa, Takashi;
Suzuki, Eiichi;
Inoue, Ituro;
Gejyo, Fumitake

Publication type:

Article

Recent progress in genetics of Marfan syndrome and Marfan-associated disorders.

Published in:

Journal of Human Genetics, 2007, v. 52, n. 1, p. 1, doi. 10.1007/s10038-006-0078-1

By:

Mizuguchi, Takeshi;
Matsumoto, Naomichi

Publication type:

Article

Single-nucleotide variations in the genes encoding the mitochondrial Hsp60/Hsp10 chaperone system and their disease-causing potential.

Published in:

Journal of Human Genetics, 2007, v. 52, n. 1, p. 56, doi. 10.1007/s10038-006-0080-7

By:

Bross, Peter;
Li, Zhijie;
Hansen, Jakob;
Hansen, Jens Jacob;
Nielsen, Marit Nyholm;
Corydon, Thomas Juhl;
Georgopoulos, Costa;
Ang, Debbie;
Lundemose, Jytte Banner;
Niezen-Koning, Klary;
Eiberg, Hans;
Yang, Huanming;
Kølvraa, Steen;
Bolund, Lars;
Gregersen, Niels

Publication type:

Article

Alpha-adrenoceptor gene variants and autonomic nervous system function in a young healthy Japanese population.

Published in:

Journal of Human Genetics, 2007, v. 52, n. 1, p. 28, doi. 10.1007/s10038-006-0076-3

By:

Matsunaga, Tetsuro;
Yasuda, Koichiro;
Adachi, Tetsuya;
Gu, Ning;
Yamamura, Tsubasa;
Moritani, Toshio;
Tsujimoto, Gozoh;
Tsuda, Kinsuke

Publication type:

Article

Mutation and haplotype analyses of the MUT gene in Japanese patients with methylmalonic acidemia.

Published in:

Journal of Human Genetics, 2007, v. 52, n. 1, p. 48, doi. 10.1007/s10038-006-0077-2

By:

Sakamoto, Osamu;
Ohura, Toshihiro;
Matsubara, Yoichi;
Takayanagi, Masaki;
Tsuchiya, Shigeru

Publication type:

Article

MECP2 and CDKL5 gene mutation analysis in Chinese patients with Rett syndrome.

Published in:

Journal of Human Genetics, 2007, v. 52, n. 1, p. 38, doi. 10.1007/s10038-006-0079-0

By:

Li, Mei-rong;
Pan, Hong;
Bao, Xin-Hua;
Zhang, Yu-Zhi;
Wu, Xi-Ru

Publication type:

Article

Different roles of MTHFR C677T and A1298C polymorphisms in colorectal adenoma and colorectal cancer: a meta-analysis.

Published in:

Journal of Human Genetics, 2007, v. 52, n. 1, p. 73, doi. 10.1007/s10038-006-0082-5

By:

Huang, Yan;
Han, Shizhong;
Li, Yao;
Mao, Yumin;
Xie, Yi

Publication type:

Article

Association and synergistic interaction between promoter variants of the DRD4 gene in Japanese schizophrenics.

Published in:

Journal of Human Genetics, 2007, v. 52, n. 1, p. 86, doi. 10.1007/s10038-006-0084-3

By:

Nakajima, Mizuho;
Hattori, Eiji;
Yamada, Kazuo;
Iwayama, Yoshimi;
Toyota, Tomoko;
Iwata, Yasuhide;
Tsuchiya, Kenji J.;
Sugihara, Genichi;
Hashimoto, Kenji;
Watanabe, Hiroyuki;
Iyo, Masaomi;
Hoshika, Akinori;
Yoshikawa, Takeo

Publication type:

Article

Identification and characterization of different SHOX gene deletions in patients with Leri–Weill dyschondrosteosys by MLPA assay.

Published in:

Journal of Human Genetics, 2007, v. 52, n. 1, p. 21, doi. 10.1007/s10038-006-0074-5

By:

Gatta, Valentina;
Antonucci, Ivana;
Morizio, Elisena;
Palka, Chiara;
Fischetto, Rita;
Mokini, Vahe;
Tumini, Stefano;
Calabrese, Giuseppe;
Stuppia, Liborio

Publication type:

Article

The NR4A nuclear receptor family in eosinophils.

Published in:

Journal of Human Genetics, 2007, v. 52, n. 1, p. 13, doi. 10.1007/s10038-006-0085-2

By:

Hashida, Ryoichi;
Ohkura, Naganari;
Saito, Hirohisa;
Tsujimoto, Gozoh

Publication type:

Article

Allelic homogeneity in Avellino corneal dystrophy due to a founder effect.

Published in:

Journal of Human Genetics, 2007, v. 52, n. 1, p. 92, doi. 10.1007/s10038-006-0083-4

By:

Tsujikawa, Kaoru;
Tsujikawa, Motokazu;
Watanabe, Hitoshi;
Maeda, Naoyuki;
Inoue, Yoshitsugu;
Fujikado, Takashi;
Tano, Yasuo

Publication type:

Article