ADVANCE ONLINE PUBLICATION
The latest research papers, published online ahead of print. These online versions are definitive and may be cited using the digital object identifier (DOI).
About advance online publication
November 13 2009 |
November 6 2009 |
October 30 2009 |
October 23 2009 |
October 16 2009
November 20 2009
Original Article
Association between ESR1 and ESR2 gene polymorphisms and hyperlipidemia in Chinese Han postmenopausal women
Teng Zhao, Di Zhang, Yun Liu, Daizhan Zhou, Zhuo Chen, Yifeng Yang, Sheng Li, Lan Yu, Zuofeng Zhang, Guoyin Feng, Lin He and He Xu
J Hum Genet advance online publication, November 20, 2009; doi:10.1038/jhg.2009.122
Short Communications
Polymorphism located in TCRA locus confers susceptibility to essential hypersomnia with HLA-DRB1*1501-DQB1*0602 haplotype
Taku Miyagawa, Makoto Honda, Minae Kawashima, Mihoko Shimada, Susumu Tanaka, Yutaka Honda and Katsushi Tokunaga
J Hum Genet advance online publication, November 20, 2009; doi:10.1038/jhg.2009.118
Examination of FMR1 transcript and protein levels among 74 premutation carriers
Emmanuel Peprah, Weiya He, Emily Allen, Tiffany Oliver, Alex Boyne and Stephanie L Sherman
J Hum Genet advance online publication, November 20, 2009; doi:10.1038/jhg.2009.121
Differential expression of a subset of ribosomal protein genes in cell lines derived from human nasopharyngeal epithelium
Edmund Ui Hang Sim, Chow Hiang Ang, Ching Ching Ng, Choon Weng Lee and Kumaran Narayanan
J Hum Genet advance online publication, November 20, 2009; doi:10.1038/jhg.2009.124
November 13 2009
Original Articles
The key role of patrilineal inheritance in shaping the genetic variation of Dagestan highlanders
Laura Caciagli, Kazima Bulayeva, Oleg Bulayev, Stefania Bertoncini, Luca Taglioli, Luca Pagani, Giorgio Paoli and Sergio Tofanelli
J Hum Genet advance online publication, November 13, 2009; doi:10.1038/jhg.2009.94
A novel complex mutation in MSH2 contributes to both Muir-Torre and Lynch Syndrome
Sheron Perera, Lily Ramyar, Angie Mitri, Aaron Pollett, Steven Gallinger, Marsha D Speevak, Melyssa Aronson and Bharati Bapat
J Hum Genet advance online publication, November 13, 2009; doi:10.1038/jhg.2009.119
Mutation of ARHGAP9 in patients with coronary spastic angina
Mikito Takefuji, Hiroyuki Asano, Kazutaka Mori, Mutsuki Amano, Katsuhiro Kato, Takashi Watanabe, Yasuhiro Morita, Akira Katsumi, Toshiki Itoh, Tadaomi Takenawa, Akihiro Hirashiki, Hideo Izawa, Kozo Nagata, Haruo Hirayama, Fumimaro Takatsu, Tomoki Naoe, Mitsuhiro Yokota and Kozo Kaibuchi
J Hum Genet advance online publication, November 13, 2009; doi:10.1038/jhg.2009.120
Short Communications
Evidence for a founder mutation causing DFNA5 hearing loss in East Asians
Hong-Joon Park, Hyun-Ju Cho, Jeong-In Baek, Tamar Ben-Yosef, Tae-Jun Kwon, Andrew J Griffith and Un-Kyung Kim
J Hum Genet advance online publication, November 13, 2009; doi:10.1038/jhg.2009.114
Identification of novel L2HGDH gene mutations and update of the pathological spectrum
Laura Vilarinho, Sandra Tafulo, Michelina Sibilio, Fernando Kok, Federica Fontana, Luisa Diogo, Margarida Venâncio, Mariana Ferreira, Celia Nogueira, Carla Valongo, Giancarlo Parenti, António Amorim and Luisa Azevedo
J Hum Genet advance online publication, November 13, 2009; doi:10.1038/jhg.2009.110
November 6 2009
Original Articles
Is CFTR 621+3 A>G a cystic fibrosis causing mutation?
Monica Forzan, Leonardo Salviati, Vanessa Pertegato, Alberto Casarin, Alice Bruson, Eva Trevisson, Elena Di Gianantonio and Maurizio Clementi
J Hum Genet advance online publication, November 6, 2009; doi:10.1038/jhg.2009.115
Identification of 15 loci influencing height in a Korean population
Jae-Jung Kim, Hae-In Lee, Taesung Park, Kyunga Kim, Jong-Eun Lee, Nam Han Cho, Chol Shin, Yoon Shin Cho, Jong-Young Lee, Bok-Ghee Han, Han-Wook Yoo and Jong-Keuk Lee
J Hum Genet advance online publication, November 6, 2009; doi:10.1038/jhg.2009.116
Major contribution of dominant inheritance to autism spectrum disorders (ASDs) in population-based families
Takeshi Nishiyama, Morihiro Notohara, Satoshi Sumi, Satoshi Takami and Hirohisa Kishino
J Hum Genet advance online publication, November 6, 2009; doi:10.1038/jhg.2009.105
Mutant alleles associated with late-onset ornithine transcarbamylase deficiency in male patients have recurrently arisen and have been retained in some populations
Sanae Numata, Yoshiro Koda, Kenji Ihara, Tomo Sawada, Yoshiyuki Okano, Toshinobu Matsuura, Fumio Endo, Han-Wook Yoo, Jose A Arranz, Vicente Rubio, Bendicht Wermuth, Nicholas Ah Mew, Mendel Tuchman, Jason R Pinner, Edwin P Kirk and Makoto Yoshino
J Hum Genet advance online publication, November 6, 2009; doi:10.1038/jhg.2009.113
No influence of FAT polymorphisms in response to aripiprazole
Chi-Un Pae, Alberto Chiesa, Laura Mandelli, Diana De Ronchi and Alessandro Serretti
J Hum Genet advance online publication, November 6, 2009; doi:10.1038/jhg.2009.117
Short Communication
A novel nonsense mutation in a Japanese family with ataxia with oculomotor apraxia type 2 (AOA2)
Katsuya Nakamura, Kunihiro Yoshida, Hideo Makishita, Eiko Kitamura, Shiori Hashimoto and Shu-ichi Ikeda
J Hum Genet advance online publication, November 6, 2009; doi:10.1038/jhg.2009.104
October 30 2009
Original Articles
Polyalanine expansion of PHOX2B in congenital central hypoventilation syndrome: rs17884724:A>C is associated with 7-alanine expansion
Hiroko Arai, Tesshu Otagiri, Ayako Sasaki, Kazuo Umetsu and Kiyoshi Hayasaka
J Hum Genet advance online publication, October 30, 2009; doi:10.1038/jhg.2009.109
Human chitotriosidase polymorphism is associated with human longevity in Mediterranean nonagenarians and centenarians
Lucia Malaguarnera, Luca Nnawuihe Ohazuruike, Christina Tsianaka, Tijana Antic, Michelino Di Rosa and Mariano Malaguarnera
J Hum Genet advance online publication, October 30, 2009; doi:10.1038/jhg.2009.111
hOGG1 Ser326Cys polymorphism and risk of lung cancer by histological type
Toshiki Okasaka, Keitaro Matsuo, Takeshi Suzuki, Hidemi Ito, Satoyo Hosono, Takakazu Kawase, Miki Watanabe, Yasushi Yatabe, Toyoaki Hida, Tetsuya Mitsudomi, Hideo Tanaka, Kohei Yokoi and Kazuo Tajima
J Hum Genet advance online publication, October 30, 2009; doi:10.1038/jhg.2009.108
Association analysis of COMT polymorphisms with schizophrenia and smooth pursuit eye movement abnormality
Byung Lae Park, Hyoung Doo Shin, Hyun Sub Cheong, Chul Soo Park, Jin-Wook Sohn, Bong-Jo Kim, Han-Kil Seo, Jae Won Kim, Ki-Hoon Kim, Tae-Min Shin, Ihn-Geun Choi, Shin Gyeom Kim and Sung-Il Woo
J Hum Genet advance online publication, October 30, 2009; doi:10.1038/jhg.2009.102
Common genetic variants in pre-microRNAs are associated with risk of coal workers' pneumoconiosis
Meilin Wang, Yang Ye, Haiyang Qian, Zhifang Song, Xiaomin Jia, Zhengdong Zhang, Jianwei Zhou and Chunhui Ni
J Hum Genet advance online publication, October 30, 2009; doi:10.1038/jhg.2009.112
International web-based survey of informed consent procedures in genetic epidemiological studies: towards the establishment of a research coordinator accreditation system
Midori Yamamoto, Makiko Funamizu, Kaori Muto and Akira Hata
J Hum Genet advance online publication, October 30, 2009; doi:10.1038/jhg.2009.103
Mutation analysis in the long isoform of USH2A in American patients with Usher Syndrome type II
Denise Yan, Xiaomei Ouyang, D Michael Patterson, Li Lin Du, Samuel G Jacobson and Xue-Zhong Liu
J Hum Genet advance online publication, October 30, 2009; doi:10.1038/jhg.2009.107
October 23 2009
Original Articles
Association between obesity and polymorphisms in SEC16B, TMEM18, GNPDA2, BDNF, FAIM2 and MC4R in a Japanese population
Kikuko Hotta, Michihiro Nakamura, Takahiro Nakamura, Tomoaki Matsuo, Yoshio Nakata, Seika Kamohara, Nobuyuki Miyatake, Kazuaki Kotani, Ryoya Komatsu, Naoto Itoh, Ikuo Mineo, Jun Wada, Hiroaki Masuzaki, Masato Yoneda, Atsushi Nakajima, Tohru Funahashi, Shigeru Miyazaki, Katsuto Tokunaga, Manabu Kawamoto, Takato Ueno, Kazuyuki Hamaguchi, Kiyoji Tanaka, Kentaro Yamada, Toshiaki Hanafusa, Shinichi Oikawa, Hironobu Yoshimatsu, Kazuwa Nakao, Toshiie Sakata, Yuji Matsuzawa, Naoyuki Kamatani and Yusuke Nakamura
J Hum Genet advance online publication, October 23, 2009; doi:10.1038/jhg.2009.106
No association between a promoter NOS1 polymorphism (rs41279104) and Infantile Hypertrophic Pyloric Stenosis
Kristina Lagerstedt-Robinson, Anna Svenningsson and Agneta Nordenskjöld
J Hum Genet advance online publication, October 23, 2009; doi:10.1038/jhg.2009.101
October 16 2009
Original Article
A great diversity of Amerindian mitochondrial DNA ancestry is present in the Mexican mestizo population
Mariano Guardado-Estrada, Eligia Juarez-Torres, Ingrid Medina-Martinez, Ana Wegier, Antonio Macías, Guillermo Gomez, Fernando Cruz-Talonia, Edgar Roman-Bassaure, Daniel Piñero, Susana Kofman-Alfaro and Jaime Berumen
J Hum Genet advance online publication, October 16, 2009; doi:10.1038/jhg.2009.98
Short Communication
Evaluation of genetic loci influencing adult height in the Japanese population
Fumihiko Takeuchi, Toru Nabika, Masato Isono, Tomohiro Katsuya, Takao Sugiyama, Shuhei Yamaguchi, Shotai Kobayashi, Yukio Yamori, Toshio Ogihara and Norihiro Kato
J Hum Genet advance online publication, October 16, 2009; doi:10.1038/jhg.2009.99
