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Case Reports A novel mutation in the glycogen synthase 2 gene in a child with glycogen storage disease type 0 Ana Priscila Soggia, Maria Lúcia Correa-Giannella, Maria Angela Henriques Fortes, Ana Mercedes Cavaleiro Luna, and Maria Adelaide Albergaria Pereira PMCID: PMC2837020 Adult case of partial trisomy 9q Keith Tiong, Andrew Cotterill, and Henrik Falhammar PMCID: PMC2850894 Correspondence Practice guidelines for the molecular analysis of Prader-Willi and Angelman syndromes Simon C Ramsden, Jill Clayton-Smith, Rachael Birch, and Karin Buiting PMCID: PMC2877670 Debate Is Lamarckian evolution relevant to medicine? Adam E Handel and Sreeram V Ramagopalan PMCID: PMC2876149 Technical Advances Quantitative assay for the detection of the V617F variant in the Janus kinase 2 (JAK2) gene using the Luminex xMAP technology François W Paradis, Raynald Simard, and Daniel Gaudet PMCID: PMC2861026 Pitfalls in mutational testing and reporting of common KIT and PDGFRA mutations in gastrointestinal stromal tumors Sabine Merkelbach-Bruse, Wolfgang Dietmaier, Laszlo Füzesi, Andreas Gaumann, Florian Haller, Julia Kitz, Antje Krohn, Gunhild Mechtersheimer, Roland Penzel, Hans-Ulrich Schildhaus, Regine Schneider-Stock, Ronald Simon, and Eva Wardelmann PMCID: PMC2910708 Research Articles No association of the polymorphisms of the frizzled-related protein gene with peak bone mineral density in Chinese nuclear families Gao Gao, Zhen-Lin Zhang, Jin-Wei He, Hao Zhang, Hua Yue, Wei-Wei Hu, Jie-Mei Gu, Wen-Zhen Fu, Yun-Qiu Hu, Miao Li, Yu-Juan Liu, and Jin-Bo Yu PMCID: PMC2806249 Mutation screen and association studies for the fatty acid amide hydrolase (FAAH) gene and early onset and adult obesity Timo D Müller, Günter Brönner, Melanie Wandolski, Jophia Carrie, Trang T Nguyen, Brandon H Greene, André Scherag, Harald Grallert, Carla IG Vogel, Susann Scherag, Winfried Rief, Hans-Erich Wichmann, Thomas Illig, Helmut Schäfer, Johannes Hebebrand, and Anke Hinney PMCID: PMC2830932 Uptake of genetic testing and long-term tumor surveillance in von Hippel-Lindau disease Astrid Rasmussen, Elisa Alonso, Adriana Ochoa, Irene De Biase, Itziar Familiar, Petra Yescas, Ana-Luisa Sosa, Yaneth Rodríguez, Mireya Chávez, Marisol López-López, and Sanjay I Bidichandani PMCID: PMC2822817 Mannose-binding lectin genotypes: lack of association with susceptibility to thoracic empyema Stephen J Chapman, Fredrik O Vannberg, Chiea C Khor, Anna Rautanen, Nicholas A Maskell, Christopher WH Davies, Catrin E Moore, Nicholas P Day, Derrick W Crook, Robert JO Davies, and Adrian VS Hill PMCID: PMC2820469 Gene polymorphisms in association with emerging cardiovascular risk markers in adult women Amy Z Fan, Ajay Yesupriya, Man-huei Chang, Meaghan House, Jing Fang, Renée Ned, Donald Hayes, Nicole F Dowling, and Ali H Mokdad PMCID: PMC2826307 Association of MMP - 12 polymorphisms with severe and very severe COPD: A case control study of MMPs - 1, 9 and 12 in a European population Imran Haq, Sally Chappell, Simon R Johnson, Juzer Lotya, Leslie Daly, Kevin Morgan, Tamar Guetta-Baranes, Josep Roca, Roberto Rabinovich, Ann B Millar, Seamas C Donnelly, Vera Keatings, William MacNee, Jan Stolk, Pieter S Hiemstra, Massimo Miniati, Simonetta Monti, Clare M O'Connor, and Noor Kalsheker PMCID: PMC2820470 Association between novel TARDBP mutations and Chinese patients with amyotrophic lateral sclerosis Hui-Ling Xiong, Jin-Yang Wang, Yi-Min Sun, Jian-Jun Wu, Yan Chen, Kai Qiao, Qiao-Juan Zheng, Gui-xian Zhao, and Zhi-Ying Wu PMCID: PMC2821387 Impact of gene variants on sex-specific regulation of human Scavenger receptor class B type 1 (SR-BI) expression in liver and association with lipid levels in a population-based study Ornit Chiba-Falek, Marshall Nichols, Sunil Suchindran, John Guyton, Geoffrey S Ginsburg, Elizabeth Barrett-Connor, and Jeanette J McCarthy PMCID: PMC2822818 CXCR1 and SLC11A1 polymorphisms affect susceptibility to cutaneous leishmaniasis in Brazil: a case-control and family-based study Léa Castellucci, Sarra E Jamieson, E Nancy Miller, Eliane Menezes, Joyce Oliveira, Andrea Magalhães, Luiz Henrique Guimarães, Marcus Lessa, Amélia Ribeiro de Jesus, Edgar M Carvalho, and Jenefer M Blackwell PMCID: PMC2823618 Allelic variants in the PHTF1-PTPN22, C12orf30 and CD226 regions as candidate susceptibility factors for the type 1 diabetes in the Estonian population Konstantinos Douroudis, Kalle Kisand, Virge Nemvalts, Tarvo Rajasalu, and Raivo Uibo PMCID: PMC2830196 Large effects on body mass index and insulin resistance of fat mass and obesity associated gene (FTO) variants in patients with polycystic ovary syndrome (PCOS) Susanne Tan, André Scherag, Onno Eilard Janssen, Susanne Hahn, Harald Lahner, Tiina Dietz, Susann Scherag, Harald Grallert, Carla Ivane Ganz Vogel, Rainer Kimmig, Thomas Illig, Klaus Mann, Johannes Hebebrand, and Anke Hinney PMCID: PMC2824654 The G-Protein β3 subunit 825 TT genotype is associated with epigastric pain syndrome-like dyspepsia Tadayuki Oshima, Shigemi Nakajima, Tetsuji Yokoyama, Fumihiko Toyoshima, Jun Sakurai, Junji Tanaka, Toshihiko Tomita, Yongmin Kim, Kazutoshi Hori, Takayuki Matsumoto, and Hiroto Miwa PMCID: PMC2825227 Modeling complex genetic and environmental influences on comorbid bipolar disorder with tobacco use disorder Richard C McEachin, Nancy L Saccone, Scott F Saccone, Yelena D Kleyman-Smith, Tiara Kar, Rajesh K Kare, Alex S Ade, Maureen A Sartor, James D Cavalcoli, and Melvin G McInnis PMCID: PMC2823619 Hypervariable intronic region in NCX1 is enriched in short insertion-deletion polymorphisms and showed association with cardiovascular traits Katrin Kepp, Elin Org, Siim Sõber, Piret Kelgo, Margus Viigimaa, Gudrun Veldre, Neeme Tõnisson, Peeter Juhanson, Margus Putku, Andreas Kindmark, Viktor Kožich, and Maris Laan PMCID: PMC2832636 Haplotypes of intron 4 of the estrogen receptor alpha gene and hip fractures: a replication study in Caucasians Javier Velasco, José L Hernández, José L Pérez-Castrillón, María T Zarrabeitia, María A Alonso, Jesús González-Macías, and José A Riancho PMCID: PMC2837017 Toll-like receptor 2 gene polymorphisms, pulmonary tuberculosis, and natural killer cell counts Yung-Che Chen, Chang-Chun Hsiao, Chung-Jen Chen, Chien-Hung Chin, Shih-Feng Liu, Chao-Chien Wu, Hock-Liew Eng, Tung-Ying Chao, Chia-Cheng Tsen, Yi-Hsi Wang, and Meng-Chih Lin PMCID: PMC2824655 Genetic selection? A study of individual variation in the enzymes of folate metabolism Barbara A Jennings, Gavin A Willis, Jane Skinner, and Caroline L Relton PMCID: PMC2835673 Frequency of Fabry disease in male and female haemodialysis patients in Spain Paulo Gaspar, Julio Herrera, Daniel Rodrigues, Sebastián Cerezo, Rodrigo Delgado, Carlos F Andrade, Ramón Forascepi, Juan Macias, Maria D del Pino, Maria D Prados, Pilar R de Alegria, Gerardo Torres, Pedro Vidau, and Maria C Sá-Miranda PMCID: PMC2837018 A novel germline PALB2 deletion in Polish breast and ovarian cancer patients Agnieszka Dansonka-Mieszkowska, Anna Kluska, Joanna Moes, Michalina Dabrowska, Dorota Nowakowska, Anna Niwinska, Pawel Derlatka, Krzysztof Cendrowski, and Jolanta Kupryjanczyk PMCID: PMC2829009 Loss of balancing selection in the βS globin locus Niven A Salih, Ayman A Hussain, Ibrahim A Almugtaba, Abeir M Elzein, Ibrahim M Elhassan, Eltahir AG Khalil, Hani B Ishag, Hiba S Mohammed, Dominic Kwiatkowski, and Muntaser E Ibrahim PMCID: PMC2829010 Chromosome 7p linkage and association study for diabetes related traits and type 2 diabetes in an African-American population enriched for nephropathy Tennille S Leak, Carl D Langefeld, Keith L Keene, Carla J Gallagher, Lingyi Lu, Josyf C Mychaleckyj, Stephen S Rich, Barry I Freedman, Donald W Bowden, and Michèle M Sale PMCID: PMC2829011 A novel DSPP mutation causes dentinogenesis imperfecta type II in a large Mongolian family Haihua Bai, Hasi Agula, Qizhu Wu, Wenyu Zhou, Yujing Sun, Yue Qi, Suya Latu, Yujie Chen, Jiri Mutu, and Changchun Qiu PMCID: PMC2829541 Dopamine D2 receptor polymorphisms and susceptibility to alcohol dependence in Indian males: a preliminary study Pushplata Prasad, Atul Ambekar, and Meera Vaswani PMCID: PMC2829542 Leptin receptor (LEPR) SNP polymorphisms in HELLP syndrome patients determined by quantitative real-time PCR and melting curve analysis Tibor Várkonyi, Levente Lázár, Attila Molvarec, Nándor Gábor Than, János Rigó, Jr, and Bálint Nagy PMCID: PMC2833147 Health status in patients at risk of inherited arrhythmias and sudden unexpected death compared to the general population Anniken Hamang, Geir Egil Eide, Karin Nordin, Berit Rokne, Cathrine Bjorvatn, and Nina Øyen PMCID: PMC2836315 Fibrinogen beta variants confer protection against coronary artery disease in a Greek case-control study Eirini V Theodoraki, Tiit Nikopensius, Julia Suhorutšenko, Vassileios Peppes, Panagiota Fili, Genovefa Kolovou, Vassileios Papamikos, Dimitrios Richter, Nikolaos Zakopoulos, Kaarel Krjutškov, Andres Metspalu, and George V Dedoussis PMCID: PMC2834581 Variable number of tandem repeat polymorphisms of the interleukin-1 receptor antagonist gene IL-1RN: a novel association with the athlete status Sabina Cauci, Manuela Di Santolo, Kelli K Ryckman, Scott M Williams, and Giuseppe Banfi PMCID: PMC2837019 Study of the serotonin transporter (SLC6A4) and BDNF genes in French patients with non syndromic mental deficiency Refaat Tabagh, Christian R Andres, Sylviane Védrine, Catherine Cherpi-Antar, Rose-Anne Thepault, Laurence Mignon, Diane Dufour-Rainfray, Claude Moraine, and Patrick Vourc'h PMCID: PMC2837021 The molecular basis of beta-thalassemia intermedia in southern China: genotypic heterogeneity and phenotypic diversity Wanqun Chen, Xinhua Zhang, Xuan Shang, Ren Cai, Liyan Li, Tianhong Zhou, Manna Sun, Fu Xiong, and Xiangmin Xu PMCID: PMC2845123 Caspase-1 genetic variation is not associated with Alzheimer's disease risk José Luis Vázquez-Higuera, Eloy Rodríguez-Rodríguez, Pascual Sánchez-Juan, Ignacio Mateo, Ana Pozueta, Ana Martínez-García, Ana Frank, Fernando Valdivieso, José Berciano, María J Bullido, and Onofre Combarros PMCID: PMC2837022 Molecular and clinical analysis of Ellis-van Creveld syndrome in the United Arab Emirates Bassam R Ali, Nadia A Akawi, Faris Chedid, Mahmood Bakir, Moghis Ur Rehman, Aiman Rahmani, and Lihadh Al-Gazali PMCID: PMC2845574 Mutations in epidermal growth factor receptor and K-ras in Chinese patients with colorectal cancer Zuo Yunxia, Cao Jun, Zhu Guanshan, Lu Yachao, Zhou Xueke, and Li Jin PMCID: PMC2848222 Evaluation of DOK5 as a susceptibility gene for type 2 diabetes and obesity in North Indian population Rubina Tabassum, Anubha Mahajan, Ganesh Chauhan, Om Prakash Dwivedi, Saurabh Ghosh, Nikhil Tandon, and Dwaipayan Bharadwaj PMCID: PMC2848002 Association of Nrf2-encoding NFE2L2 haplotypes with Parkinson's disease Malin von Otter, Sara Landgren, Staffan Nilsson, Dragana Celojevic, Petra Bergström, Anna Håkansson, Hans Nissbrandt, Marek Drozdzik, Monika Bialecka, Mateusz Kurzawski, Kaj Blennow, Michael Nilsson, Ola Hammarsten, and Henrik Zetterberg PMCID: PMC2843602 Polymorphisms in IL-1β, vitamin D receptor Fok1, and Toll-like receptor 2 are associated with extrapulmonary tuberculosis Alison A Motsinger-Reif, Paulo RZ Antas, Noffisat O Oki, Shawn Levy, Steven M Holland, and Timothy R Sterling PMCID: PMC2837863 PARP-1 Val762Ala polymorphism is associated with reduced risk of non-Hodgkin lymphoma in Korean males Xue Mei Jin, Hee Nam Kim, Il-Kwon Lee, Kyeong-Soo Park, Hyeoung-Joon Kim, Jin-Su Choi, Sang Woo Juhng, and Chan Choi PMCID: PMC2843603 Glucocorticoid receptor gene polymorphisms do not affect growth in fetal and early postnatal life. The Generation R Study Miranda JJ Geelhoed, Eric AP Steegers, Jan W Koper, Elisabeth FC van Rossum, Henriette A Moll, Hein Raat, Henning Tiemeier, Albert Hofman, and Vincent WV Jaddoe PMCID: PMC2846902 Variants of the Matrix Metalloproteinase-2 but not the Matrix Metalloproteinase-9 genes significantly influence functional outcome after stroke Helena Manso, Tiago Krug, João Sobral, Isabel Albergaria, Gisela Gaspar, José M Ferro, Sofia A Oliveira, and Astrid M Vicente PMCID: PMC2851591 A meta-analysis of genome-wide data from five European isolates reveals an association of COL22A1, SYT1, and GABRR2 with serum creatinine level Cristian Pattaro, Alessandro De Grandi, Veronique Vitart, Caroline Hayward, Andre Franke, Yurii S Aulchenko, Asa Johansson, Sarah H Wild, Scott A Melville, Aaron Isaacs, Ozren Polasek, David Ellinghaus, Ivana Kolcic, Ute Nöthlings, Lina Zgaga, Tatijana Zemunik, Carsten Gnewuch, Stefan Schreiber, Susan Campbell, Nick Hastie, Mladen Boban, Thomas Meitinger, Ben A Oostra, Peter Riegler, Cosetta Minelli, Alan F Wright, Harry Campbell, Cornelia M van Duijn, Ulf Gyllensten, James F Wilson, Michael Krawczak, Igor Rudan, Peter P Pramstaller, and the EUROSPAN consortium PMCID: PMC2848223 Further evidence that mutations in INS can be a rare cause of Maturity-Onset Diabetes of the Young (MODY) Trine W Boesgaard, Stepanka Pruhova, Ehm A Andersson, Ondrej Cinek, Barbora Obermannova, Jeannet Lauenborg, Peter Damm, Regine Bergholdt, Flemming Pociot, Charlotta Pisinger, Fabrizio Barbetti, Jan Lebl, Oluf Pedersen, and Torben Hansen PMCID: PMC2848224 EEG alpha phenotypes: linkage analyses and relation to alcohol dependence in an American Indian community study Cindy L Ehlers, Ian R Gizer, Evelyn Phillips, and Kirk C Wilhelmsen PMCID: PMC2851592 Identification of a deep intronic mutation in the COL6A2 gene by a novel custom oligonucleotide CGH array designed to explore allelic and genetic heterogeneity in collagen VI-related myopathies Matteo Bovolenta, Marcella Neri, Elena Martoni, Anna Urciuolo, Patrizia Sabatelli, Marina Fabris, Paolo Grumati, Eugenio Mercuri, Enrico Bertini, Luciano Merlini, Paolo Bonaldo, Alessandra Ferlini, and Francesca Gualandi PMCID: PMC2850895 Mutation analysis of the LCE3B/LCE3C genes in Psoriasis Eliecer Coto, Jorge Santos-Juanes, Pablo Coto-Segura, Marta Díaz, Javier Soto, Rubén Queiro, and Victoria Alvarez PMCID: PMC2859809 Glutathione S-Transferase P1 (GSTP1) gene polymorphism increases age-related susceptibility to hepatocellular carcinoma Yao-Li Chen, Hsin-Shun Tseng, Wu-Hsien Kuo, Shun-Fa Yang, Dar-Ren Chen, and Hsiu-Ting Tsai PMCID: PMC2851593 High frequency of Machado-Joseph disease identified in Southeastern Chinese kindreds with spinocerebellar ataxia Shi-Rui Gan, Sheng-Sheng Shi, Jian-Jun Wu, Ning Wang, Gui-Xian Zhao, Sheng-Tong Weng, Shen-Xing Murong, Chuan-Zhen Lu, and Zhi-Ying Wu PMCID: PMC2861663 MFN2 point mutations occur in 3.4% of Charcot-Marie-Tooth families. An investigation of 232 Norwegian CMT families Geir J Braathen, Jette C Sand, Ana Lobato, Helle Høyer, and Michael B Russell PMCID: PMC2859816 Low incidence of limb-girdle muscular dystrophy type 2C revealed by a mutation study in Japanese patients clinically diagnosed with DMD Yo Okizuka, Yasuhiro Takeshima, Kyoko Itoh, Zhujun Zhang, Hiroyuki Awano, Koichi Maruyama, Toshiyuki Kumagai, Mariko Yagi, and Masafumi Matsuo PMCID: PMC2861025 Allelic variants of IL1R1 gene associate with severe hand osteoarthritis Annu Näkki, Sanna T Kouhia, Janna Saarela, Arsi Harilainen, Kaj Tallroth, Tapio Videman, Michele C Battié, Jaakko Kaprio, Leena Peltonen, and Urho M Kujala PMCID: PMC2859817 Genetic modifiers of Hb E/β0 thalassemia identified by a two-stage genome-wide association study Richard Sherva, Orapan Sripichai, Kenneth Abel, Qianli Ma, Johanna Whitacre, Vach Angkachatchai, Wattanan Makarasara, Pranee Winichagoon, Saovaros Svasti, Suthat Fucharoen, Andreas Braun, and Lindsay A Farrer PMCID: PMC2853425 Association analysis of ADPRT1, AKR1B1, RAGE, GFPT2 and PAI-1 gene polymorphisms with chronic renal insufficiency among Asian Indians with type-2 diabetes Pushplata Prasad, Arun K Tiwari, KM Prasanna Kumar, AC Ammini, Arvind Gupta, Rajeev Gupta, and BK Thelma PMCID: PMC2855532 Maternal inheritance and mitochondrial DNA variants in familial Parkinson's disease David K Simon, Nathan Pankratz, Diane K Kissell, Michael W Pauciulo, Cheryl A Halter, Alice Rudolph, Ronald F Pfeiffer, William C Nichols, Tatiana Foroud, and the Parkinson Study Group - PROGENI Investigators PMCID: PMC2858137 Genome-wide association analysis of total cholesterol and high-density lipoprotein cholesterol levels using the Framingham Heart Study data Li Ma, Jing Yang, H Birali Runesha, Toshiko Tanaka, Luigi Ferrucci, Stefania Bandinelli, and Yang Da PMCID: PMC2867786 Promoter polymorphism -119C/G in MYG1 (C12orf10) gene is related to vitiligo susceptibility and Arg4Gln affects mitochondrial entrance of Myg1 Mari-Anne Philips, Külli Kingo, Maire Karelson, Ranno Rätsep, Eerik Aunin, Ene Reimann, Paula Reemann, Orm Porosaar, Jonas Vikeså, Finn C Nielsen, Eero Vasar, Helgi Silm, and Sulev Kõks PMCID: PMC2856544 FTO variant rs9939609 is associated with body mass index and waist circumference, but not with energy intake or physical activity in European- and African-American youth Gaifen Liu, Haidong Zhu, Vasiliki Lagou, Bernard Gutin, Inger S Stallmann-Jorgensen, Frank A Treiber, Yanbin Dong, and Harold Snieder PMCID: PMC2864242 The obesity gene, TMEM18, is of ancient origin, found in majority of neuronal cells in all major brain regions and associated with obesity in severely obese children Markus Sällman Almén, Josefin A Jacobsson, Jafar HA Shaik, Pawel K Olszewski, Jonathan Cedernaes, Johan Alsiö, Smitha Sreedharan, Allen S Levine, Robert Fredriksson, Claude Marcus, and Helgi B Schiöth PMCID: PMC2858727 MTNR1B rs10830963 is associated with fasting plasma glucose, HbA1C and impaired beta-cell function in Chinese Hans from Shanghai Chen Liu, Ying Wu, Huaixing Li, Qibin Qi, Claudia Langenberg, Ruth JF Loos, and Xu Lin PMCID: PMC2873324 Common genetic variants on chromosome 9p21 are associated with myocardial infarction and type 2 diabetes in an Italian population Francesca Gori, Claudia Specchia, Silvia Pietri, Luisa Crociati, Simona Barlera, Monica Franciosi, Antonio Nicolucci, Stefano Signorini, Paolo Brambilla, and Maria Grazia Franzosi PMCID: PMC2871267 Essential role of the N-terminal region of TFII-I in viability and behavior Jaume Lucena, Susana Pezzi, Ester Aso, Maria C Valero, Candelas Carreiro, Pierre Dubus, Adriana Sampaio, Maria Segura, Isabel Barthelemy, Marc Y Zindel, Nuno Sousa, José L Barbero, Rafael Maldonado, Luis A Pérez-Jurado, and Victoria Campuzano PMCID: PMC2865459 Genetic variants associated with fasting blood lipids in the U.S. population: Third National Health and Nutrition Examination Survey Man-huei Chang, Ajay Yesupriya, Renée M Ned, Patricia W Mueller, and Nicole F Dowling PMCID: PMC2876148 Effect of TNF-α genetic variants and CCR5Δ32 on the vulnerability to HIV-1 infection and disease progression in Caucasian Spaniards Sergi Veloso, Montserrat Olona, Felipe García, Pere Domingo, Carlos Alonso-Villaverde, Montserrat Broch, Joaquim Peraire, Consuelo Viladés, Montserrat Plana, Enric Pedrol, Miguel López-Dupla, Carmen Aguilar, Mar Gutiérrez, Agathe Leon, Mariona Tasias, Josep Ma Gatell, Cristóbal Richart, and Francesc Vidal PMCID: PMC2877017 Custom CGH array profiling of copy number variations (CNVs) on chromosome 6p21.32 (HLA locus) in patients with venous malformations associated with multiple sclerosis Alessandra Ferlini, Matteo Bovolenta, Marcella Neri, Francesca Gualandi, Alessandra Balboni, Anton Yuryev, Fabrizio Salvi, Donato Gemmati, Alberto Liboni, and Paolo Zamboni PMCID: PMC2880319 Association and interaction of PPAR-complex gene variants with latent traits of left ventricular diastolic function Jyh-Ming Jimmy Juang, Lisa de las Fuentes, Alan D Waggoner, C Charles Gu, and Víctor G Dávila-Román PMCID: PMC2874543 Additive effects of LPL, APOA5 and APOE variant combinations on triglyceride levels and hypertriglyceridemia: results of the ICARIA genetic sub-study María-José Ariza, Miguel-Ángel Sánchez-Chaparro, Francisco-Javier Barón, Ana-María Hornos, Eva Calvo-Bonacho, José Rioja, Pedro Valdivielso, José-Antonio Gelpi, and Pedro González-Santos PMCID: PMC2877669 Screening mutations in myosin binding protein C3 gene in a cohort of patients with Hypertrophic Cardiomyopathy María Isabel Rodríguez-García, Lorenzo Monserrat, Martín Ortiz, Xusto Fernández, Laura Cazón, Lucía Núñez, Roberto Barriales-Villa, Emilia Maneiro, Elena Veira, Alfonso Castro-Beiras, and Manuel Hermida-Prieto PMCID: PMC2880974 PedHunter 2.0 and its usage to characterize the founder structure of the Old Order Amish of Lancaster County Woei-Jyh Lee, Toni I Pollin, Jeffrey R O'Connell, Richa Agarwala, and Alejandro A Schäffer PMCID: PMC2880975 Large-scale association analysis of TNF/LTA gene region polymorphisms in type 2 diabetes Vesna Boraska, Nigel W Rayner, Christopher J Groves, Timothy M Frayling, Mahamadou Diakite, Kirk A Rockett, Dominic P Kwiatkowski, Aaron G Day-Williams, Mark I McCarthy, and Eleftheria Zeggini PMCID: PMC2873325 Novel MLPA procedure using self-designed probes allows comprehensive analysis for CNVs of the genes involved in Hirschsprung disease Avencia Sánchez-Mejías, Rocio Núñez-Torres, Raquel M Fernández, Guillermo Antiñolo, and Salud Borrego PMCID: PMC2877671 Submicroscopic subtelomeric aberrations in Chinese patients with unexplained developmental delay/mental retardation Ye Wu, Taoyun Ji, Jingmin Wang, Jing Xiao, Huifang Wang, Jie Li, Zhijie Gao, Yanling Yang, Bin Cai, Liwen Wang, Zhongshu Zhou, Lili Tian, Xiaozhu Wang, Nan Zhong, Jiong Qin, Xiru Wu, and Yuwu Jiang PMCID: PMC2892449 SCN5A allelic expression imbalance in African-Americans heterozygous for the common variant p.Ser1103Tyr Stacy AS Killen, Jennifer Kunic, Lily Wang, Adele Lewis, Bruce P Levy, Michael J Ackerman, and Alfred L George, Jr PMCID: PMC2891713 Common polymorphisms of calpain-10 and the risk of Type 2 Diabetes in a Tunisian Arab population: a case-control study Intissar Ezzidi, Amira Turki, Safia Messaoudi, Molka Chaieb, Maha Kacem, Ghada M Al-Khateeb, Touhami Mahjoub, Wassim Y Almawi, and Nabil Mtiraoui PMCID: PMC2885359 Evaluation of 6 candidate genes on chromosome 11q23 for coeliac disease susceptibility: a case control study Karen Brophy, Anthony W Ryan, Graham Turner, Valerie Trimble, Kunal D Patel, Colm O'Morain, Nicholas P Kennedy, Brian Egan, Eimear Close, Garrett Lawlor, Padraic MacMathuna, Fiona M Stevens, Mohamed Abuzakouk, Conleth Feighery, Dermot Kelleher, and Ross McManus PMCID: PMC2880976 LINE-1 methylation is inherited in familial testicular cancer kindreds Lisa Mirabello, Sharon A Savage, Larissa Korde, Shahinaz M Gadalla, and Mark H Greene PMCID: PMC2880977 No association between polymorphisms of WNT2 and schizophrenia in a Korean population Hak-Jae Kim, Jin Kyung Park, Su Kang Kim, Sung Wook Kang, Jong Woo Kim, Hyun-Kyung Park, Ah-Rang Cho, Ji Young Song, and Joo-Ho Chung PMCID: PMC2887425 Screening mutations of OTOF gene in Chinese patients with auditory neuropathy, including a familial case of temperature-sensitive auditory neuropathy Da-Yong Wang, Yi-Chen Wang, Dominique Weil, Ya-Li Zhao, Shao-Qi Rao, Liang Zong, Yu-Bin Ji, Qiong Liu, Jian-Qiang Li, Huan-Ming Yang, Yan Shen, Cindy Benedict-Alderfer, Qing-Yin Zheng, Christine Petit, and Qiu-Ju Wang PMCID: PMC2901213 Effect of BRCA2 sequence variants predicted to disrupt exonic splice enhancers on BRCA2 transcripts Phillip J Whiley, Christopher A Pettigrew, Brooke L Brewster, Logan C Walker, Amanda B Spurdle, and Melissa A Brown PMCID: PMC2897790 Implication of genetic variants near SLC30A8, HHEX, CDKAL1, CDKN2A/B, IGF2BP2, FTO, TCF2, KCNQ1, and WFS1 in Type 2 Diabetes in a Chinese population Xueyao Han, Yingying Luo, Qian Ren, Xiuying Zhang, Fang Wang, Xiuqin Sun, Xianghai Zhou, and Linong Ji PMCID: PMC2896346 The polymorphism rs3024505 proximal to IL-10 is associated with risk of ulcerative colitis and Crohns disease in a Danish case-control study Vibeke Andersen, Anja Ernst, Jane Christensen, Mette Østergaard, Bent A Jacobsen, Anne Tjønneland, Henrik B Krarup, and Ulla Vogel PMCID: PMC2891714 Lack of association between the GRP78 polymorphisms in the promoter and 3' UTR and susceptibility to chronic HBV infection in a Chinese Han population Xiao Zhu, Dong-Pei Li, Wen-Guo Fan, Marie CM Lin, Jin-Long Wang, Sheng-Qu Lin, Jian-Qing Huang, and Hsiang-Fu Kung PMCID: PMC2901214 No association between variation in the NR4A1 gene locus and metabolic traits in white subjects at increased risk for type 2 diabetes Karsten Müssig, Fausto Machicao, Jürgen Machann, Fritz Schick, Claus D Claussen, Norbert Stefan, Andreas Fritsche, Hans-Ulrich Häring, and Harald Staiger PMCID: PMC2894787 Matrix metalloproteinase-9 gene polymorphisms in nasal polyposis Ling-Feng Wang, Chen-Yu Chien, Chih-Feng Tai, Wen-Rei Kuo, Edward Hsi, and Suh-Hang Hank Juo PMCID: PMC2896930 Association of obesity risk SNPs in PCSK1 with insulin sensitivity and proinsulin conversion Martin Heni, Axel Haupt, Silke A Schäfer, Caroline Ketterer, Claus Thamer, Fausto Machicao, Norbert Stefan, Harald Staiger, Hans-Ulrich Häring, and Andreas Fritsche PMCID: PMC2898666 1Novel MEFV transcripts in Familial Mediterranean fever patients and controls Myrna Medlej-Hashim, Nancy Nehme, Eliane Chouery, Nadine Jalkh, and André Megarbane PMCID: PMC2894788 A gene-wide investigation on polymorphisms in the taste receptor 2R14 (TAS2R14) and susceptibility to colorectal cancer Daniele Campa, Pavel Vodicka, Barbara Pardini, Alessio Naccarati, Maura Carrai, Ludmila Vodickova, Jan Novotny, Kari Hemminki, Asta Försti, Roberto Barale, and Federico Canzian PMCID: PMC2893173 Nuclear Factor (NF) κB polymorphism is associated with heart function in patients with heart failure Diogo GB Santos, Marina F Resende, José G Mill, Alfredo J Mansur, José E Krieger, and Alexandre C Pereira PMCID: PMC2897791 Maternal angiotensinogen (AGT) haplotypes, fetal renin (REN) haplotypes and risk of preeclampsia; estimation of gene-gene interaction from family-triad data Hege K Vefring, Line Wee, Astanand Jugessur, Håkon K Gjessing, Stein T Nilsen, and Rolv T Lie PMCID: PMC2901215 The CTLA4 variants may interact with the IL23R- and NOD2-conferred risk in development of Crohn's disease Ondrej Hradsky, Petra Dusatkova, Martin Lenicek, Jiri Bronsky, Jiri Nevoral, Libor Vitek, Milan Lukas, Ivana Zeniskova, and Ondrej Cinek PMCID: PMC2894789 Low penetrance of a SDHB mutation in a large Dutch paraganglioma family Frederik J Hes, Marjan M Weiss, Sanne A Woortman, Noel F de Miranda, Patrick A van Bunderen, Bert A Bonsing, Marcel PM Stokkel, Hans Morreau, Johannes A Romijn, Jeroen C Jansen, Annette HJT Vriends, Jean-Pierre L Bayley, and Eleonora PM Corssmit PMCID: PMC2891715 Sex-differential genetic effect of phosphodiesterase 4D (PDE4D) on carotid atherosclerosis Yi-Chu Liao, Hsiu-Fen Lin, Yuh-Cherng Guo, Ming-Lung Yu, Ching-Kuan Liu, and Suh-Hang Hank Juo PMCID: PMC2895592 Association of the genetic polymorphisms of the ACE gene and the eNOS gene with lupus nephropathy in northern Chinese population X Li, J An, R Guo, Z Jin, Y Li, Y Zhao, F Lu, H Lian, P Liu, Y Zhao, and X Jin PMCID: PMC2903533 The role of height-associated loci identified in genome wide association studies in the determination of pediatric stature Jianhua Zhao, Mingyao Li, Jonathan P Bradfield, Haitao Zhang, Frank D Mentch, Kai Wang, Patrick M Sleiman, Cecilia E Kim, Joseph T Glessner, Cuiping Hou, Brendan J Keating, Kelly A Thomas, Maria L Garris, Sandra Deliard, Edward C Frackelton, F George Otieno, Rosetta M Chiavacci, Robert I Berkowitz, Hakon Hakonarson, and Struan FA Grant PMCID: PMC2894790 Association study of genetic variants in eight genes/loci with type 2 diabetes in a Han Chinese population Ying Lin, Pengqiu Li, Li Cai, Ben Zhang, Xin Tang, Xuejun Zhang, Ying Li, Yang Xian, Yang Yang, Li Wang, Fang Lu, Xiaoqi Liu, Shaoqin Rao, Ming Chen, Shi Ma, Yi Shi, Mingjing Bao, Jichuan Wu, Yan Yang, Jiyun Yang, and Zhenglin Yang PMCID: PMC2894791 The impact of CFNS-causing EFNB1 mutations on ephrin-B1 function Roman Makarov, Bernhard Steiner, Zoran Gucev, Velibor Tasic, Peter Wieacker, and Ilse Wieland PMCID: PMC2901216 Association of IL1A and IL1B loci with primary open angle glaucoma Suddhasil Mookherjee, Deblina Banerjee, Subhadip Chakraborty, Antara Banerjee, Indranil Mukhopadhyay, Abhijit Sen, and Kunal Ray PMCID: PMC2909939 Search for copy number variants in chromosomes 15q11-q13 and 22q11.2 in obsessive compulsive disorder Richard Delorme, Daniel Moreno-De-Luca, Aurélie Gennetier, Wolfgang Maier, Pauline Chaste, Rainald Mössner, Hans Jörgen Grabe, Stephan Ruhrmann, Peter Falkai, Marie-Christine Mouren, Marion Leboyer, Michael Wagner, and Catalina Betancur PMCID: PMC2909937 Prevalence of 22q11.2 microdeletion in 146 patients with cardiac malformation in a referral hospital of North India Ashutosh Halder, Manish Jain, Isha Chaudhary, and Madhulika Kabra PMCID: PMC2912258 Application of a target array Comparative Genomic Hybridization to prenatal diagnosis Ji Hyeon Park, Jung Hoon Woo, Sung Han Shim, Song-Ju Yang, Young Min Choi, Kap-Seok Yang, and Dong Hyun Cha PMCID: PMC2909938 Common variants in the regulative regions of GRIA1 and GRIA3 receptor genes are associated with migraine susceptibility Daniela Formicola, Andrea Aloia, Simone Sampaolo, Olimpia Farina, Daria Diodato, Lyn R Griffiths, Fernando Gianfrancesco, Giuseppe Di Iorio, and Teresa Esposito PMCID: PMC2909201 Genetic evidence of multiple loci in dystocia - difficult labour Michael Algovik, Katja Kivinen, Hanna Peterson, Magnus Westgren, and Juha Kere PMCID: PMC2914646 The common rs9939609 variant of the fat mass and obesity-associated gene is associated with obesity risk in children and adolescents of Beijing, China Bo Xi, Yue Shen, Meixian Zhang, Xin Liu, Xiaoyuan Zhao, Lijun Wu, Hong Cheng, Dongqing Hou, Klaus Lindpaintner, Lisheng Liu, Jie Mi, and Xingyu Wang PMCID: PMC2914647 Mutation screening of NOS1AP gene in a large sample of psychiatric patients and controls Richard Delorme, Catalina Betancur, Isabelle Scheid, Henrik Anckarsäter, Pauline Chaste, Stéphane Jamain, Franck Schuroff, Gudrun Nygren, Evelyn Herbrecht, Anne Dumaine, Marie Christine Mouren, Maria Råstam, Marion Leboyer, Christopher Gillberg, and Thomas Bourgeron PMCID: PMC2919462 Estrogen Receptor-Beta Gene Polymorphism in women with Breast Cancer at the Imam Khomeini Hospital Complex, Iran Sakineh Abbasi PMCID: PMC2911428 Osteopoikilosis and multiple exostoses caused by novel mutations in LEMD3 and EXT1 genes respectively - coincidence within one family Sevjidmaa Baasanjav, Aleksander Jamsheer, Mateusz Kolanczyk, Denise Horn, Tomasz Latos, Katrin Hoffmann, Anna Latos-Bielenska, and Stefan Mundlos PMCID: PMC2912259 FOXP2 gene and language impairment in schizophrenia: association and epigenetic studies Amparo Tolosa, Julio Sanjuán, Adam M Dagnall, María D Moltó, Neus Herrero, and Rosa de Frutos PMCID: PMC2918571 Genomic characterization of large rearrangements of the LDLR gene in Czech patients with familial hypercholesterolemia Radan Goldmann, Lukáš Tichý, Tomáš Freiberger, Petra Zapletalová, Ondřej Letocha, Vladimír Soška, Jiří Fajkus, and Lenka Fajkusová PMCID: PMC2923121 Effects of MCF2L2, ADIPOQ and SOX2 genetic polymorphisms on the development of nephropathy in type 1 Diabetes Mellitus Dongying Zhang, Suad Efendic, Kerstin Brismar, and Harvest F Gu PMCID: PMC2919463 Hereditary Hemochromatosis (HFE) genotypes in heart failure: Relation to etiology and prognosis Daniel V Møller, Redi Pecini, Finn Gustafsson, Christian Hassager, Paula Hedley, Cathrine Jespersgaard, Christian Torp-Pedersen, Michael Christiansen, and Lars V Køber PMCID: PMC2920247 A case-control analysis of common variants in GIP with type 2 diabetes and related biochemical parameters in a South Indian population Divya Sugunan, Anup K Nair, Harish Kumar, and Anilkumar Gopalakrishnapillai PMCID: PMC2920866 Replication of the association of chromosomal region 9p21.3 with generalized aggressive periodontitis (gAgP) using an independent case-control cohort Florian D Ernst, Katharina Uhr, Alexander Teumer, Jutta Fanghänel, Susanne Schulz, Barbara Noack, Jose Gonzales, Stefan Reichert, Peter Eickholz, Birte Holtfreter, Peter Meisel, Gerard J Linden, Georg Homuth, and Thomas Kocher PMCID: PMC2924866 Association of the apolipoprotein A5 gene -1131 T>C polymorphism with fasting blood lipids: a meta-analysis in 37859 subjects Tongfeng Zhao and Jiangpei Zhao PMCID: PMC2924867 Identification of a novel homozygous nonsense mutation in EYS in a Chinese family with autosomal recessive retinitis pigmentosa Yukan Huang, Jing Zhang, Chang Li, Guohua Yang, Mugen Liu, Qing K Wang, and Zhaohui Tang PMCID: PMC2927534 Asthma-susceptibility variants identified using probands in case-control and family-based analyses Blanca E Himes, Jessica Lasky-Su, Ann C Wu, Jemma B Wilk, Gary M Hunninghake, Barbara Klanderman, Amy J Murphy, Ross Lazarus, Manuel E Soto-Quiros, Lydiana Avila, Juan C Celedón, Christoph Lange, George T O'Connor, Benjamin A Raby, Edwin K Silverman, and Scott T Weiss PMCID: PMC2927535 Genome wide screen identifies microsatellite markers associated with acute adverse effects following radiotherapy in cancer patients Yuichi Michikawa, Tomo Suga, Atsuko Ishikawa, Hideki Hayashi, Akira Oka, Hidetoshi Inoko, Mayumi Iwakawa, and Takashi Imai PMCID: PMC2928773 Obesity and diabetes genes are associated with being born small for gestational age: Results from the Auckland Birthweight Collaborative study Angharad R Morgan, John MD Thompson, Rinki Murphy, Peter N Black, Wen-Jiun Lam, Lynnette R Ferguson, and Ed A Mitchell PMCID: PMC2928774 Correction Mutations in epidermal growth factor receptor and K-ras in Chinese patients with colorectal cancer Zuo Yunxia, Cao Jun, Zhu Guanshan, Lu Yachao, Zhou Xueke, and Li Jin PMCID: PMC2895593 Corrects: Zuo Yunxia, et al. Mutations in epidermal growth factor receptor and K-ras in Chinese patients with colorectal cancer. BMC Med Genet. 2010; 11: 34. Other Issues: Journal List
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