Volume 52; Issue 6

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Journal of Human Genetics
Volume 52; Issue 6

Journal of Human Genetics

Volume 52; Issue 6

1

Mutation identification and characterization of a Taiwanese patient with fucosidosis

Shuan-Pei Lin, Jui-Hung Chang, Maria Paez de la Cadena, Ting-Fang Chang, Guey-Jen Lee-Chen

Journal:

Journal of Human Genetics

Year:

2007

Language:

english

File:

PDF, 172 KB

english, 2007

2

A novelDFNA5mutation does not cause hearing loss in an Iranian family

Lut Van Laer, Nicole C. Meyer, Mahdi Malekpour, Yasser Riazalhosseini, Mahdi Moghannibashi, Kimia Kahrizi, Ann Vandevelde, Fatemeh Alasti, Hossein Najmabadi, Guy Van Camp, Richard J. H. Smith

Journal:

Journal of Human Genetics

Year:

2007

Language:

english

File:

PDF, 223 KB

english, 2007

3

An 11-bp duplication in the promoter region of the VHL gene in a patient with cerebellar hemangioblastoma and renal oncocytoma

Lucia Anna Muscarella, Raffaela Barbano, Bartolomeo Augello, Vincenza Formica, Lucia Micale, Leopoldo Zelante, Leonardo D’Agruma, Giuseppe Merla

Journal:

Journal of Human Genetics

Year:

2007

Language:

english

File:

PDF, 229 KB

english, 2007

4

Molecular analysis of hearing loss associated with enlarged vestibular aqueduct in the mainland Chinese: a uniqueSLC26A4mutation spectrum

Hao Hu, Lingqian Wu, Yong Feng, Qian Pan, Zhigao Long, Juan Li, Heping Dai, Kun Xia, Desheng Liang, Norio Niikawa, Jiahui Xia

Journal:

Journal of Human Genetics

Year:

2007

Language:

english

File:

PDF, 160 KB

english, 2007

5

Genetic determination in onset age of wrist fracture

Donghai Xiong, Wei Wang, Yuan Chen, Hui Jiang, Hong-Wen Deng

Journal:

Journal of Human Genetics

Year:

2007

Language:

english

File:

PDF, 153 KB

english, 2007

6

Gap junction coding genes and schizophrenia: a genetic association study

Branko Aleksic, Ryoko Ishihara, Nagahide Takahashi, Nobuhisa Maeno, Xiaofei Ji, Shinichi Saito, Toshiya Inada, Norio Ozaki

Journal:

Journal of Human Genetics

Year:

2007

Language:

english

File:

PDF, 155 KB

english, 2007

7

Association ofKITgene polymorphisms with bone mineral density in postmenopausal Korean women

Shin-Yoon Kim, Jong-Young Lee, Ha Young Kim, Bermseok Oh, Kuchan Kimm, Hyung-Lae Kim, Byung Lae Park, Hyoung Doo Shin, Eui Kyun Park, Jung-Min Koh, Ghi Su Kim

Journal:

Journal of Human Genetics

Year:

2007

Language:

english

File:

PDF, 233 KB

english, 2007

8

Mutations in theWFS1gene are a frequent cause of autosomal dominant nonsyndromic low-frequency hearing loss in Japanese

Hisakuni Fukuoka, Yukihiko Kanda, Shuji Ohta, Shin-ichi Usami

Journal:

Journal of Human Genetics

Year:

2007

Language:

english

File:

PDF, 187 KB

english, 2007

9

Failure to confirm association betweenPDCD1polymorphisms and rheumatoid arthritis in a Japanese population

Takuji Iwamoto, Katsunori Ikari, Eisuke Inoue, Yoshiaki Toyama, Masako Hara, Hisashi Yamanaka, Taisuke Tomatsu, Shigeki Momohara, Naoyuki Kamatani

Journal:

Journal of Human Genetics

Year:

2007

Language:

english

File:

PDF, 148 KB

english, 2007

10

Further evidence of genetic heterogeneity in Costello syndrome: involvement of theKRASgene

Débora Romeo Bertola, Alexandre Costa Pereira, Amanda Salem Brasil, Lilian Maria José Albano, Chong Ae Kim, José Eduardo Krieger

Journal:

Journal of Human Genetics

Year:

2007

Language:

english

File:

PDF, 261 KB

english, 2007

11

The 894G>T variant in the endothelial nitric oxide synthase gene and spina bifida risk

Ivon J. M. van der Linden, Sandra G. Heil, Martin den Heijer, Henk J. Blom

Journal:

Journal of Human Genetics

Year:

2007

Language:

english

File:

PDF, 146 KB

english, 2007

12

Polymorphisms of glutathione S-transferase M1, T1 and P1 in patients with reflux esophagitis and Barrett’s esophagus

Zdenek Kala, Jiří Dolina, Filip Marek, Lydie Izakovicova Holla

Journal:

Journal of Human Genetics

Year:

2007

Language:

english

File:

PDF, 177 KB

english, 2007

13

Mutation of junctophilin type 2 associated with hypertrophic cardiomyopathy

Yoshihisa Matsushita, Toru Furukawa, Hiroshi Kasanuki, Makoto Nishibatake, Yachiyo Kurihara, Atsushi Ikeda, Naoyuki Kamatani, Hiroshi Takeshima, Rumiko Matsuoka

Journal:

Journal of Human Genetics

Year:

2007

Language:

english

File:

PDF, 321 KB

english, 2007

14

A syndactyly type IV locus maps to 7q36

Daisuke Sato, Desheng Liang, Lingqian Wu, Qian Pan, Kun Xia, Heping Dai, Hua Wang, Gen Nishimura, Koh-Ichiro Yoshiura, Jiahui Xia, Norio Niikawa

Journal:

Journal of Human Genetics

Year:

2007

Language:

english

File:

PDF, 190 KB

english, 2007

15

Retinoblastoma and mental retardation microdeletion syndrome: clinical characterization and molecular dissection using array CGH

R. Caselli, C. Speciale, C. Pescucci, V. Uliana, K. Sampieri, M. Bruttini, I. Longo, S. De Francesco, T. Pramparo, O. Zuffardi, R. Frezzotti, A. Acquaviva, T. Hadjistilianou, A. Renieri, F. Mari

Journal:

Journal of Human Genetics

Year:

2007

Language:

english

File:

PDF, 339 KB

english, 2007

16

Identification of a novelGPR143mutation in a large Chinese family with congenital nystagmus as the most prominent and consistent manifestation

Jing Yu Liu, Xiang Ren, Xiufeng Yang, Tangying Guo, Qi Yao, Lin Li, Xiaohua Dai, Mingchang Zhang, Lejin Wang, Mugen Liu, Qing K. Wang

Journal:

Journal of Human Genetics

Year:

2007

Language:

english

File:

PDF, 321 KB

english, 2007