Works matching IS 1434-5161 AND VI 52 AND IP 7 AND DT 2007

Results: 9

Identification of seven novel cryptic exons embedded in the dystrophin gene and characterization of 14 cryptic dystrophin exons.

Published in:

Journal of Human Genetics, 2007, v. 52, n. 7, p. 607, doi. 10.1007/s10038-007-0163-0

By:

Zhujun Zhang;
Habara, Yasuaki;
Nishiyama, Atsushi;
Oyazato, Yoshinobu;
Yagi, Mariko;
Takeshima, Yasuhiro;
Matsuo, Masafumi

Publication type:

Article

Testing the hypothesis of an ancient Roman soldier origin of the Liqian people in northwest China: a Y-chromosome perspective.

Published in:

Journal of Human Genetics, 2007, v. 52, n. 7, p. 584, doi. 10.1007/s10038-007-0155-0

By:

Ruixia Zhou;
Lizhe An;
Xunling Wang;
Wei Shao;
Gonghua Lin;
Weiping Yu;
Lin Yi;
Shijian Xu;
Jiujin Xu;
Xiaodong Xie

Publication type:

Article

A novel PEX12 mutation identified as the cause of a peroxisomal biogenesis disorder with mild clinical phenotype, mild biochemical abnormalities in fibroblasts and a mosaic catalase immunofluorescence pattern, even at 40 °C.

Published in:

Journal of Human Genetics, 2007, v. 52, n. 7, p. 599, doi. 10.1007/s10038-007-0157-y

By:

Zeharia, Avraham;
Ebberink, Merel S.;
Wanders, Ronald J. A.;
Waterham, Hans R.;
Gutman, Alisa;
Nissenkorn, Andreea;
Korman, Stanley H.

Publication type:

Article

Association analysis of genetic variants in IL23R, ATG16L1 and 5p13.1 loci with Crohn’s disease in Japanese patients.

Published in:

Journal of Human Genetics, 2007, v. 52, n. 7, p. 575, doi. 10.1007/s10038-007-0156-z

By:

Yamazaki, Keiko;
Onouchi, Yoshihiro;
Takazoe, Masakazu;
Kubo, Michiaki;
Nakamura, Yusuke;
Hata, Akira

Publication type:

Article

Allelic variation in the NPY gene in 14 Indian populations.

Published in:

Journal of Human Genetics, 2007, v. 52, n. 7, p. 592, doi. 10.1007/s10038-007-0158-x

By:

Bhaskar, L. V. K. S.;
Thangaraj, K.;
Shah, Anish M.;
Pardhasaradhi, G.;
Praveen Kumar, K.;
Reddy, A. G.;
Rao, A. Papa;
Mulligan, C. J.;
Singh, Lalji;
Rao, V. R.

Publication type:

Article

The Tol1 transposable element of the medaka fish moves in human and mouse cells.

Published in:

Journal of Human Genetics, 2007, v. 52, n. 7, p. 628, doi. 10.1007/s10038-007-0161-2

By:

Koga, Akihiko;
Shimada, Atsuko;
Kuroki, Toshiya;
Hori, Hiroshi;
Kusumi, Junko;
Kyono-Hamaguchi, Yoriko;
Hamaguchi, Satoshi

Publication type:

Article

Three novel mutations of the PAX6 gene in Japanese aniridia patients.

Published in:

Journal of Human Genetics, 2007, v. 52, n. 7, p. 571, doi. 10.1007/s10038-007-0153-2

By:

Kawano, Toshio;
Chunxia Wang;
Hotta, Yoshihiro;
Sato, Miho;
Iwata-Amano, Emi;
Hikoya, Akiko;
Fujita, Naoya;
Koyama, Norihisa;
Shirai, Shoichiro;
Azuma, Noriyuki;
Ohtsubo, Masafumi;
Shimizu, Nobuyoshi;
Minoshima, Shinsei

Publication type:

Article

Association of the HTRA1 gene variant with age-related macular degeneration in the Japanese population.

Published in:

Journal of Human Genetics, 2007, v. 52, n. 7, p. 636, doi. 10.1007/s10038-007-0162-1

By:

Mori, Keisuke;
Horie-Inoue, Kuniko;
Kohda, Masakazu;
Kawasaki, Izumi;
Gehlbach, Peter L.;
Awata, Takuya;
Yoneya, Shin;
Okazaki, Yasushi;
Inoue, Satoshi

Publication type:

Article

Origins and genetic features of the Okhotsk people, revealed by ancient mitochondrial DNA analysis.

Published in:

Journal of Human Genetics, 2007, v. 52, n. 7, p. 618, doi. 10.1007/s10038-007-0164-z

By:

Sato, Takehiro;
Amano, Tetsuya;
Ono, Hiroko;
Ishida, Hajime;
Kodera, Haruto;
Matsumura, Hirofumi;
Yoneda, Minoru;
Masuda, Ryuichi

Publication type:

Article