Volume 53; Issue 2

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Journal of Human Genetics
Volume 53; Issue 2

Journal of Human Genetics

Volume 53; Issue 2

1

Splice-site mutations in theTRICgene underlie autosomal recessive nonsyndromic hearing impairment in Pakistani families

Muhammad S. Chishti, Attya Bhatti, Sana Tamim, Kwanghyuk Lee, Merry-Lynn McDonald, Suzanne M. Leal, Wasim Ahmad

Journal:

Journal of Human Genetics

Year:

2008

Language:

english

File:

PDF, 373 KB

english, 2008

2

Austronesian genetic signature in East African Madagascar and Polynesia

M. Regueiro, S. Mirabal, H. Lacau, J. L. Caeiro, R. L. Garcia-Bertrand, R. J. Herrera

Journal:

Journal of Human Genetics

Year:

2008

Language:

english

File:

PDF, 352 KB

english, 2008

3

A novel R198H mutation in the glucose-6-phosphate dehydrogenase gene in the tribal groups of the Nilgiris in Southern India

R. Chalvam, P. S. Kedar, R. B. Colah, K. Ghosh, M. B. Mukherjee

Journal:

Journal of Human Genetics

Year:

2008

Language:

english

File:

PDF, 247 KB

english, 2008

4

CHROMSCAN: genome-wide association using a linkage disequilibrium map

Andrew Collins, Winston Lau

Journal:

Journal of Human Genetics

Year:

2008

Language:

english

File:

PDF, 271 KB

english, 2008

5

Huntington disease mutation in Venezuela: age of onset, haplotype analyses and geographic aggregation

Irene Paradisi, Alba Hernández, Sergio Arias

Journal:

Journal of Human Genetics

Year:

2008

Language:

english

File:

PDF, 390 KB

english, 2008

6

Genome-wide demethylation during neural differentiation of P19 embryonal carcinoma cells

Izuho Hatada, Sumiyo Morita, Mika Kimura, Takuro Horii, Riu Yamashita, Kenta Nakai

Journal:

Journal of Human Genetics

Year:

2008

Language:

english

File:

PDF, 607 KB

english, 2008

7

Gene dosage change ofTPTEandBAGE2and breakpoint analysis in Robertsonian Down syndrome

Sheng-Wen Shaw, Chih-Ping Chen, Po-Jen Cheng, Tzu-Hao Wang, Jia-Woei Hou, Cheng-Tao Lin, Shuenn-Dhy Chang, Hsiao-Lin Hwa, Ju-Li Lin, An-Shine Chao, Yung-Kuei Soong, Fon-Jou Hsieh

Journal:

Journal of Human Genetics

Year:

2008

Language:

english

File:

PDF, 297 KB

english, 2008

8

Association between four SNPs on chromosome 9p21 and myocardial infarction is replicated in an Italian population

Gong-Qing Shen, Shaoqi Rao, Nicola Martinelli, Lin Li, Oliviero Olivieri, Roberto Corrocher, Kalil G. Abdullah, Stanley L. Hazen, Jonathan Smith, John Barnard, Edward F. Plow, Domenico Girelli, Qing K

Journal:

Journal of Human Genetics

Year:

2008

Language:

english

File:

PDF, 213 KB

english, 2008

9

Association ofTCF7L2polymorphisms with susceptibility to type 2 diabetes in 4,087 Japanese subjects

Kazuaki Miyake, Yukio Horikawa, Kazuo Hara, Kazuki Yasuda, Haruhiko Osawa, Hiroto Furuta, Yushi Hirota, Kazuya Yamagata, Yoshinori Hinokio, Yoshitomo Oka, Naoko Iwasaki, Yasuhiko Iwamoto, Yuichiro Yam

Journal:

Journal of Human Genetics

Year:

2008

Language:

english

File:

PDF, 197 KB

english, 2008

10

Replication of reported genetic associations ofPADI4,FCRL3,SLC22A4andRUNX1genes with rheumatoid arthritis: results of an independent Japanese population and evidence from meta-analysis of East Asian studies

Yoichiro Takata, Hiroshi Inoue, Aya Sato, Kazue Tsugawa, Katsutoshi Miyatake, Daisuke Hamada, Fumio Shinomiya, Shunji Nakano, Natsuo Yasui, Toshihito Tanahashi, Mitsuo Itakura

Journal:

Journal of Human Genetics

Year:

2008

Language:

english

File:

PDF, 298 KB

english, 2008

11

A functional SNP in the NKX2.5-binding site ofITPR3promoter is associated with susceptibility to systemic lupus erythematosus in Japanese population

Tetsuya Oishi, Aritoshi Iida, Shigeru Otsubo, Yoichiro Kamatani, Masayuki Usami, Takashi Takei, Keiko Uchida, Ken Tsuchiya, Susumu Saito, Yozo Ohnisi, Katsushi Tokunaga, Kosaku Nitta, Yasushi Kawaguch

Journal:

Journal of Human Genetics

Year:

2008

Language:

english

File:

PDF, 422 KB

english, 2008