Volume 55; Issue 3

Main
Journal of Human Genetics
Volume 55; Issue 3

Journal of Human Genetics

Volume 55; Issue 3

1

Identification of a 4.9-kilo base-pair Alu-mediated founder SDHD deletion in two extended paraganglioma families from Austria

Janecke, Andreas R, Willett-Brozick, Joan E, Karas, Christoph, Hasipek, Metis, Loeffler-Ragg, Judith, Baysal, Bora E

Journal:

Journal of Human Genetics

Year:

2010

Language:

english

File:

PDF, 307 KB

english, 2010

2

Identification of CYP19A1 single-nucleotide polymorphisms and their haplotype distributions in a Korean population

Lee, Su-Jun, Kim, Woo-Young, Choi, Ji-Yeob, Lee, Sang Seop, Shin, Jae-Gook

Journal:

Journal of Human Genetics

Year:

2010

Language:

english

File:

PDF, 336 KB

english, 2010

3

A novel neuropsychiatric phenotype of KCNJ2 mutation in one Taiwanese family with Andersen–Tawil syndrome

Chan, Hoi-Fong, Chen, Meng-Ling, Su, Jen-Jen, Ko, Li-Chin, Lin, Chin-Hsien, Wu, Ruey-Meei

Journal:

Journal of Human Genetics

Year:

2010

Language:

english

File:

PDF, 225 KB

english, 2010

4

Association of the oxytocin receptor (OXTR) gene polymorphisms with autism spectrum disorder (ASD) in the Japanese population

Liu, Xiaoxi, Kawamura, Yoshiya, Shimada, Takafumi, Otowa, Takeshi, Koishi, Shinko, Sugiyama, Toshiro, Nishida, Hisami, Hashimoto, Ohiko, Nakagami, Ryoichi, Tochigi, Mamoru, Umekage, Tadashi, Kano, Yuk

Journal:

Journal of Human Genetics

Year:

2010

Language:

english

File:

PDF, 294 KB

english, 2010

5

A functional polymorphism (−603A → G) in the tissue factor gene promoter is associated with adult-onset asthma

Isada, Akira, Konno, Satoshi, Hizawa, Nobuyuki, Tamari, Mayumi, Hirota, Tomomitsu, Harada, Michishige, Maeda, Yukiko, Hattori, Takeshi, Takahashi, Ayumu, Nishimura, Masaharu

Journal:

Journal of Human Genetics

Year:

2010

Language:

english

File:

PDF, 443 KB

english, 2010

6

Extensive and rapid screening for major mitochondrial DNA point mutations in patients with hereditary hearing loss

Kato, Tomofumi, Nishigaki, Yutaka, Noguchi, Yoshihiro, Ueno, Hitomi, Hosoya, Hiroko, Ito, Taku, Kimura, Yurika, Kitamura, Ken, Tanaka, Masashi

Journal:

Journal of Human Genetics

Year:

2010

Language:

english

File:

PDF, 486 KB

english, 2010

7

Association study of ubiquitin-specific peptidase 46 (USP46) with bipolar disorder and schizophrenia in a Japanese population

Kushima, Itaru, Aleksic, Branko, Ito, Yoshihito, Nakamura, Yukako, Nakamura, Kazuhiko, Mori, Norio, Kikuchi, Mitsuru, Inada, Toshiya, Kunugi, Hiroshi, Nanko, Shinichiro, Kato, Tadafumi, Yoshikawa, Tak

Journal:

Journal of Human Genetics

Year:

2010

Language:

english

File:

PDF, 198 KB

english, 2010

8

Prediction of the clinical phenotype of Fabry disease based on protein sequential and structural information

Saito, Seiji, Ohno, Kazuki, Sese, Jun, Sugawara, Kanako, Sakuraba, Hitoshi

Journal:

Journal of Human Genetics

Year:

2010

Language:

english

File:

PDF, 251 KB

english, 2010

9

A case–control association analysis of CABIN1 with schizophrenia in a Japanese population

Watanabe, Yuichiro, Nunokawa, Ayako, Kaneko, Naoshi, Someya, Toshiyuki

Journal:

Journal of Human Genetics

Year:

2010

Language:

english

File:

PDF, 150 KB

english, 2010

10

A functional analysis of GABARAP on 17p13.1 by knockdown zebrafish

Komoike, Yuta, Shimojima, Keiko, Liang, Jao-Shwann, Fujii, Hiroshi, Maegaki, Yoshihiro, Osawa, Makiko, Fujii, Sakiko, Higashinakagawa, Toru, Yamamoto, Toshiyuki

Journal:

Journal of Human Genetics

Year:

2010

Language:

english

File:

PDF, 524 KB

english, 2010

11

Relationship between growth hormone 1 genetic polymorphism and susceptibility to colorectal cancer

Gao, Chang-Ming, Gong, Jian-Ping, Wu, Jian-Zhong, Cao, Hai-Xia, Ding, Jian-Hua, Zhou, Jian-Nong, Liu, Yan-Ting, Li, Su-Ping, Cao, Jia, Matsuo, Keitaro, Takezaki, Toshiro, Tajima, Kazuo

Journal:

Journal of Human Genetics

Year:

2010

Language:

english

File:

PDF, 200 KB

english, 2010

12

Novel mutations in the SIL1 gene in a Japanese pedigree with the Marinesco–Sjögren syndrome

Takahata, Taichi, Yamada, Koki, Yamada, Yoshihisa, Ono, Shinji, Kinoshita, Akira, Matsuzaka, Tetsuo, Yoshiura, Koh-ichiro, Kitaoka, Takashi

Journal:

Journal of Human Genetics

Year:

2010

Language:

english

File:

PDF, 390 KB

english, 2010