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Volume 52; Issue 11

Main
Journal of Human Genetics
Volume 52; Issue 11

Journal of Human Genetics

Volume 52; Issue 11

1

Methylenetetrahydrofolate reductase gene polymorphism as a risk factor for diabetic nephropathy: a meta-analysis

Elias Zintzaras, Katrin Uhlig, George N. Koukoulis, Afroditi A. Papathanasiou, Ioannis Stefanidis

Journal:

Journal of Human Genetics

Année:

2007

Langue:

english

Fichier:

PDF, 256 KB

english, 2007

2

Structural and biochemical studies on Pompe disease and a “pseudodeficiency of acid α-glucosidase”

Youichi Tajima, Fumiko Matsuzawa, Sei-ichi Aikawa, Toshika Okumiya, Michiru Yoshimizu, Takahiro Tsukimura, Masahiko Ikekita, Seiichi Tsujino, Akihiko Tsuji, Tim Edmunds, Hitoshi Sakuraba

Journal:

Journal of Human Genetics

Année:

2007

Langue:

english

Fichier:

PDF, 733 KB

english, 2007

3

U7 snRNA-mediated correction of aberrant splicing caused by activation of cryptic splice sites

Hideki Uchikawa, Katsunori Fujii, Yoichi Kohno, Noriyuki Katsumata, Kazuaki Nagao, Masao Yamada, Toshiyuki Miyashita

Journal:

Journal of Human Genetics

Année:

2007

Langue:

english

Fichier:

PDF, 450 KB

english, 2007

4

Refinement of a locus for autosomal dominant hereditary motor and sensory neuropathy with proximal dominancy (HMSN-P) and genetic heterogeneity

Kouji Maeda, Ryuji Kaji, Katsuhito Yasuno, Jamiyansuren Jambaldorj, Hiroyuki Nodera, Hiroshi Takashima, Masanori Nakagawa, Satoshi Makino, Gen Tamiya

Journal:

Journal of Human Genetics

Année:

2007

Langue:

english

Fichier:

PDF, 333 KB

english, 2007

5

Contribution of theBRCA1andBRCA2mutations to breast cancer in Tunisia

Wafa Troudi, N. Uhrhammer, C. Sibille, C. Dahan, W. Mahfoudh, C. Bouchlaka Souissi, T. Jalabert, L. Chouchane, Y. J. Bignon, F. Ben Ayed, A. Ben Ammar Elgaaied

Journal:

Journal of Human Genetics

Année:

2007

Langue:

english

Fichier:

PDF, 196 KB

english, 2007

6

Suggestive evidence for chromosomal localization of non-coding RNA from imprintedLIT1

Kazuhiro Murakami, Mitsuo Oshimura, Hiroyuki Kugoh

Journal:

Journal of Human Genetics

Année:

2007

Langue:

english

Fichier:

PDF, 303 KB

english, 2007

7

De novo polyalanine expansion ofPHOX2Bin congenital central hypoventilation syndrome: unequal sister chromatid exchange during paternal gametogenesis

Hiroko Arai, Tesshu Otagiri, Ayako Sasaki, Taeko Hashimoto, Kazuo Umetsu, Katsushi Tokunaga, Kiyoshi Hayasaka

Journal:

Journal of Human Genetics

Année:

2007

Langue:

english

Fichier:

PDF, 266 KB

english, 2007

8

Identification of origin of unknown derivative chromosomes by array-based comparative genomic hybridization using pre- and postnatal clinical samples

Jin Choe, Jae-Ku Kang, Chang-Jun Bae, Dong-Suk Lee, Doyeong Hwang, Ki-Chul Kim, Woong-Yang Park, Jong-Ho Lee, Jeong-Sun Seo

Journal:

Journal of Human Genetics

Année:

2007

Langue:

english

Fichier:

PDF, 457 KB

english, 2007

9

SNPs in disease gene mapping, medicinal drug development and evolution

Barkur S. Shastry

Journal:

Journal of Human Genetics

Année:

2007

Langue:

english

Fichier:

PDF, 217 KB

english, 2007

10

Maternal gene polymorphisms involved in folate metabolism and risk of Down syndrome offspring: a meta-analysis

Elias Zintzaras

Journal:

Journal of Human Genetics

Année:

2007

Langue:

english

Fichier:

PDF, 281 KB

english, 2007