Volume 55; Issue 8

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Journal of Human Genetics
Volume 55; Issue 8

Journal of Human Genetics

Volume 55; Issue 8

1

Diagnosis and fine mapping of a deletion in distal 11q in two Chinese patients with developmental delay

Ji, Taoyun, Wu, Ye, Wang, Huifang, Wang, Jingmin, Jiang, Yuwu

Journal:

Journal of Human Genetics

Year:

2010

Language:

english

File:

PDF, 193 KB

english, 2010

2

Adrenergic-β2 receptor polymorphism and athletic performance

Sarpeshkar, Vishnu, Bentley, David J

Journal:

Journal of Human Genetics

Year:

2010

Language:

english

File:

PDF, 435 KB

english, 2010

3

Meiotic behavior of three D;G Robertsonian translocations: segregation and interchromosomal effect

Anton, Ester, Blanco, Joan, Vidal, Francesca

Journal:

Journal of Human Genetics

Year:

2010

Language:

english

File:

PDF, 259 KB

english, 2010

4

Common genetic variants in pre-microRNAs and risk of gallbladder cancer in North Indian population

Srivastava, Kshitij, Srivastava, Anvesha, Mittal, Balraj

Journal:

Journal of Human Genetics

Year:

2010

Language:

english

File:

PDF, 226 KB

english, 2010

5

Mutations of the GLA gene in Korean patients with Fabry disease and frequency of the E66Q allele as a functional variant in Korean newborns

Lee, Beom Hee, Heo, Sun Hee, Kim, Gu-Hwan, Park, Jung-Young, Kim, Woo-Shik, Kang, Duk-Hee, Choe, Kyung Hoon, Kim, Won-Ho, Yang, Song Hyun, Yoo, Han-Wook

Journal:

Journal of Human Genetics

Year:

2010

Language:

english

File:

PDF, 382 KB

english, 2010

6

Phenotypic variability in a family with Townes–Brocks syndrome

Sudo, Yosuke, Numakura, Chikahiko, Abe, Akiko, Aiba, Satoru, Matsunaga, Akira, Hayasaka, Kiyoshi

Journal:

Journal of Human Genetics

Year:

2010

Language:

english

File:

PDF, 137 KB

english, 2010

7

Identification of alternatively spliced GRIM-19 mRNA in kidney cancer tissues

He, Xuelian, Cao, Xinmin

Journal:

Journal of Human Genetics

Year:

2010

Language:

english

File:

PDF, 361 KB

english, 2010

8

Common polymorphisms in ITGA2, PON1 and THBS2 are associated with coronary atherosclerosis in a candidate gene association study of the Chinese Han population

Wang, Ying, Fu, Wenqing, Xie, Fang, Wang, Yi, Chu, Xun, Wang, Haifeng, Shen, Min, Wang, Ying, Wang, Yi, Sun, Weiwei, Lei, Rong, Yang, Lin, Wu, Hong, Foo, Jianee, Liu, Jianjun, Jin, Li, Huang, Wei

Journal:

Journal of Human Genetics

Year:

2010

Language:

english

File:

PDF, 250 KB

english, 2010

9

Mucopolysaccharidosis IVA mutations in Chinese patients: 16 novel mutations

Wang, Zheng, Zhang, Weimin, Wang, Yun, Meng, Yan, Su, Liang, Shi, Huiping, Huang, Shangzhi

Journal:

Journal of Human Genetics

Year:

2010

Language:

english

File:

PDF, 367 KB

english, 2010

10

MDM2 SNP309 and p53 Arg72Pro in cutaneous melanoma: association between SNP309 GG genotype and tumor Breslow thickness

Capasso, Mario, Ayala, Fabrizio, Avvisati, Rosa Anna, Russo, Roberta, Gambale, Antonella, Mozzillo, Nicola, Ascierto, Paolo Antonio, Iolascon, Achille

Journal:

Journal of Human Genetics

Year:

2010

Language:

english

File:

PDF, 368 KB

english, 2010

11

Molecular technology vs clinical practice: a hypothesis in genetics

Journal:

Journal of Human Genetics

Year:

2010

Language:

english

File:

PDF, 97 KB

english, 2010

12

Private dysferlin exon skipping mutation (c.5492G>A) with a founder effect reveals further alternative splicing involving exons 49–51

Santos, Rosário, Oliveira, Jorge, Vieira, Emília, Coelho, Teresa, Carneiro, António Leite, Evangelista, Teresinha, Dias, Cristina, Fortuna, Ana, Geraldo, Argemiro, Negrão, Luís, Guimarães, António, Br

Journal:

Journal of Human Genetics

Year:

2010

Language:

english

File:

PDF, 350 KB

english, 2010

13

Making a haplotype catalog with estimated frequencies based on SNP homozygotes

Yamaguchi-Kabata, Yumi, Tsunoda, Tatsuhiko, Takahashi, Atsushi, Hosono, Naoya, Kubo, Michiaki, Nakamura, Yusuke, Kamatani, Naoyuki

Journal:

Journal of Human Genetics

Year:

2010

Language:

english

File:

PDF, 491 KB

english, 2010

14

Establishment of a standardized system to perform population structure analyses with limited sample size or with different sets of SNP genotypes

Kumasaka, Natsuhiko, Yamaguchi-Kabata, Yumi, Takahashi, Atsushi, Kubo, Michiaki, Nakamura, Yusuke, Kamatani, Naoyuki

Journal:

Journal of Human Genetics

Year:

2010

Language:

english

File:

PDF, 720 KB

english, 2010

15

Complexity of genetics in the athlete phenotype: A commentary on Adrenergic-β2 receptor polymorphism and athletic performance

Journal:

Journal of Human Genetics

Year:

2010

Language:

english

File:

PDF, 106 KB

english, 2010