Journal of Human Genetics - Table of Contents alert Volume 56 Issue 9

TABLE OF CONTENTS Volume 56, Issue 9 (September 2011) In this issue Original Articles Short Communications Retraction Also new AOP Advertisement Can I really get the confidence I need to find genetic variants? Sure You Can, with the new Agilent SureScan Microarray Scanner. Our new compact system for cytogenetic research applications provides the resolution required to detect copy number changes or copy neutral aberrations. Click here for a special offer and to learn more. Sign up for e-alerts Recommend to your library Web feed Subscribe Advertisement Targeted genotyping, tailored for your study - 1,500 to 2.6M markers Create your own Axiom myDesign TG Array from Affymetrix. • 1,500 to 2.6M markers per sample • Choose from our database of 11M common & rare variants • Avoid assay optimization with validated markers • GWAS, fine mapping & candidate gene on a single platform We've got your genes covered. Browse. Choose. Design.   Original Articles Top Different contributions of ancient mitochondrial and Y-chromosomal lineages in ‘Karretjie people’ of the Great Karoo in South Africa Carina M Schlebusch, Michael de Jongh and Himla Soodyall J Hum Genet 2011 56: 623-630; advance online publication, July 21, 2011; 10.1038/jhg.2011.71 Abstract | Full Text Autosomal recessive deafness 1A (DFNB1A) in Yakut population isolate in Eastern Siberia: extensive accumulation of the splice site mutation IVS1+1G>A in GJB2 gene as a result of founder effect Nikolay A Barashkov, Lilya U Dzhemileva, Sardana A Fedorova, Fedor M Teryutin, Olga L Posukh, Elvira E Fedotova, Simeon L Lobov and Elza K Khusnutdinova J Hum Genet 2011 56: 631-639; advance online publication, July 21, 2011; 10.1038/jhg.2011.72 Abstract | Full Text Association of a synonymous GAT3 polymorphism with antiepileptic drug pharmacoresistance Dong-Uk Kim, Myeong-Kyu Kim, Yong-Won Cho, Yo-Sik Kim, Won-Joo Kim, Min Goo Lee, Sung Eun Kim, Tai-Seung Nam, Ki-Hyun Cho, Young-Ok Kim and Min-Cheol Lee J Hum Genet 2011 56: 640-646; advance online publication, July 21, 2011; 10.1038/jhg.2011.73 Abstract | Full Text Association of variations in the FTO, SCG3 and MTMR9 genes with metabolic syndrome in a Japanese population Kikuko Hotta, Takuya Kitamoto, Aya Kitamoto, Seiho Mizusawa, Tomoaki Matsuo, Yoshio Nakata, Seika Kamohara, Nobuyuki Miyatake, Kazuaki Kotani, Ryoya Komatsu, Naoto Itoh, Ikuo Mineo, Jun Wada, Masato Yoneda, Atsushi Nakajima, Tohru Funahashi, Shigeru Miyazaki, Katsuto Tokunaga, Hiroaki Masuzaki, Takato Ueno, Kazuyuki Hamaguchi, Kiyoji Tanaka, Kentaro Yamada, Toshiaki Hanafusa, Shinichi Oikawa, Hironobu Yoshimatsu, Toshiie Sakata, Yuji Matsuzawa, Kazuwa Nakao and Akihiro Sekine J Hum Genet 2011 56: 647-651; advance online publication, July 28, 2011; 10.1038/jhg.2011.74 Abstract | Full Text Genetic association analysis of TAP1 and TAP2 polymorphisms with aspirin exacerbated respiratory disease and its FEV1 decline Jeong-Hyun Kim, Byung-Lae Park, Charisse Flerida A Pasaje, Joon Seol Bae, Jong Sook Park, Sung Woo Park, Soo-Taek Uh, Mi-Kyeong Kim, Inseon S Choi, Sang Heon Cho, Byoung Whui Choi, Choon-Sik Park and Hyoung Doo Shin J Hum Genet 2011 56: 652-659; advance online publication, July 28, 2011; 10.1038/jhg.2011.75 Abstract | Full Text Mutation analysis of 73 southern Chinese Wilson's disease patients: identification of 10 novel mutations and its clinical correlation Li-Hua Wang, Ye-Qing Huang, Xuan Shang, Quan-Xi Su, Fu Xiong, Qing-Yun Yu, Hui-Ping Lin, Zhi-Sheng Wei, Ming-Fan Hong and Xiang-Min Xu J Hum Genet 2011 56: 660-665; advance online publication, July 28, 2011; 10.1038/jhg.2011.76 Abstract | Full Text Screening of genetic variations of SLC15A2, SLC22A1, SLC22A2 and SLC22A6 genes Hyun Sub Cheong, Hae Deun Kim, Han Sung Na, Ji On Kim, Lyoung Hyo Kim, Seung Hee Kim, Joon Seol Bae, Myeon Woo Chung and Hyoung Doo Shin J Hum Genet 2011 56: 666-670; advance online publication, July 28, 2011; 10.1038/jhg.2011.77 Abstract | Full Text Comprehensive mutational analysis of LRRK2 reveals variants supporting association with autosomal dominant Parkinson's disease Naomi Seki, Yuji Takahashi, Hiroyuki Tomiyama, Ekaterina Rogaeva, Shigeo Murayama, Yoshikuni Mizuno, Nobutaka Hattori, Connie Marras, Anthony E Lang, Peter St George-Hyslop, Jun Goto and Shoji Tsuji J Hum Genet 2011 56: 671-675; advance online publication, July 28, 2011; 10.1038/jhg.2011.79 Abstract | Full Text Genetic variation in phosphodiesterase (PDE) 7B in chronic lymphocytic leukemia: overview of genetic variants of cyclic nucleotide PDEs in human disease Ana M Peiró, Chih-Min Tang, Fiona Murray, Lingzhi Zhang, Loren M Brown, Daisy Chou, Laura Rassenti, Thomas A Kipps and Paul A Insel J Hum Genet 2011 56: 676-681; advance online publication, July 28, 2011; 10.1038/jhg.2011.80 Abstract | Full Text Short Communications Top Identification of two HEXA mutations causing infantile-onset Tay–Sachs disease in the Persian population Alireza Haghighi, Jamileh Rezazadeh, Azam Ahmadi Shadmehri, Amirreza Haghighi, Ruth Kornreich and Robert J Desnick J Hum Genet 2011 56: 682-684; advance online publication, July 28, 2011; 10.1038/jhg.2011.78 Abstract | Full Text p53 Arg72Pro and MDM2 309 SNPs in hereditary retinoblastoma Maria Carmela Epistolato, Vittoria Disciglio, Gabriella Livide, Paola Berchialla, Maria Antonietta Mencarelli, Annabella Marozza, Mariangela Amenduni, Theodora Hadjistilianou, Sonia De Francesco, Antonio Acquaviva, Paolo Toti, Francesco Cetta, Francesca Ariani, Mario De Marchi, Alessandra Renieri and Daniela Giachino J Hum Genet 2011 56: 685-686; advance online publication, August 4, 2011; 10.1038/jhg.2011.82 Abstract | Full Text Retraction Top Evaluation of next-generation sequencing software in mapping and assembly SuYing Bao, Rui Jiang, WingKeung Kwan, BinBin Wang, Xu Ma and You-Qiang Song J Hum Genet 2011 56: 687; advance online publication, August 11, 2011; 10.1038/jhg.2011.91 Full Text Advertisement Looking to publish your next paper? 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