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Case Reports Mosaicism for combined tetrasomy of chromosomes 8 and 18 in a dysmorphic child: A result of failed tetraploidy correction? Gunnar Houge, Helle Lybæk, and Sasha Gulati PMCID: PMC2691399 Pathogenesis of vestibular schwannoma in ring chromosome 22 Ellen Denayer, Hilde Brems, Paul de Cock, Gareth D Evans, Frank Van Calenbergh, Naomi Bowers, Raf Sciot, Maria Debiec-Rychter, Joris V Vermeesch, Jean-Pierre Fryns, and Eric Legius PMCID: PMC2758865 Database Autism genetic database (AGD): a comprehensive database including autism susceptibility gene-CNVs integrated with known noncoding RNAs and fragile sites Gregory Matuszek and Zohreh Talebizadeh PMCID: PMC2761880 Research article PLAUR polymorphisms and lung function in UK smokers Ceri E Stewart, Ian P Hall, Stuart G Parker, Miriam F Moffat, Andrew J Wardlaw, Martin J Connolly, Charlotte Ruse, and Ian Sayers PMCID: PMC2784766 ALDH1A2 (RALDH2) genetic variation in human congenital heart disease Marilene Pavan, Viviane F Ruiz, Fábio A Silva, Tiago J Sobreira, Roberta M Cravo, Michelle Vasconcelos, Lívia P Marques, Sonia MF Mesquita, José E Krieger, Antônio AB Lopes, Paulo S Oliveira, Alexandre C Pereira, and José Xavier-Neto PMCID: PMC2779186 Voltage-dependent anion channel (VDAC) is involved in apoptosis of cell lines carrying the mitochondrial DNA mutation Liu Yuqi, Gao Lei, Li Yang, Li Zongbin, Xu Hua, Wang Lin, Chen Rui, Liu Mohan, Wen Yi, Guan Minxin, and Wang Shiwen PMCID: PMC2779793 PIN1 gene variants in Alzheimer's disease Aleksandra Maruszak, Krzysztof Safranow, Katarzyna Gustaw, Beata Kijanowska-Haładyna, Katarzyna Jakubowska, Maria Olszewska, Maria Styczyńska, Mariusz Berdyński, Andrzej Tysarowski, Dariusz Chlubek, Janusz Siedlecki, Maria Barcikowska, and Cezary Żekanowski PMCID: PMC2781804 Molecular analysis of T-B-NK+ severe combined immunodeficiency and Omenn syndrome cases in Saudi Arabia Osama Alsmadi, Abdulaziz Al-Ghonaium, Saleh Al-Muhsen, Rand Arnaout, Hasan Al-Dhekri, Bandar Al-Saud, Fadi Al-Kayal, Haya Al-Saud, and Hamoud Al-Mousa PMCID: PMC2780402 Genetic variation in the NBS1, MRE11, RAD50 and BLM genes and susceptibility to non-Hodgkin lymphoma Johanna M Schuetz, Amy C MacArthur, Stephen Leach, Agnes S Lai, Richard P Gallagher, Joseph M Connors, Randy D Gascoyne, John J Spinelli, and Angela R Brooks-Wilson PMCID: PMC2788526 Emilin1 gene and essential hypertension: a two-stage association study in northern Han Chinese population Chong Shen, Xiangfeng Lu, Yun Li, Qi Zhao, Xiaoli Liu, Liping Hou, Laiyuan Wang, Shufeng Chen, Jianfeng Huang, and Dongfeng Gu PMCID: PMC2785781 A novel study of Copy Number Variations in Hirschsprung disease using the Multiple Ligation-dependent Probe Amplification (MLPA) technique Rocío Núñez-Torres, Raquel M Fernández, Manuel López-Alonso, Guillermo Antiñolo, and Salud Borrego PMCID: PMC2784767 Relationship of circulating cell-free DNA levels to cell-free fetal DNA levels, clinical characteristics and laboratory parameters in preeclampsia Levente Lazar, János Rigó, Jr, Bálint Nagy, Krisztián Balogh, Veronika Makó, László Cervenak, Miklós Mézes, Zoltán Prohászka, and Attila Molvarec PMCID: PMC2789064 Technical Advances A rapid method for detection of five known mutations associated with aminoglycoside-induced deafness Soraya Bardien, Hannique Human, Tashneem Harris, Gwynneth Hefke, Rene Veikondis, H Simon Schaaf, Lize van der Merwe, John H Greinwald, Johan Fagan, and Greetje de Jong PMCID: PMC2630920 Rapid detection of the CYP2A6*12 hybrid allele by Pyrosequencing® technology Deborah A Koontz, Jacqueline J Huckins, Antonina Spencer, and Margaret L Gallagher PMCID: PMC2736934 Research Articles Multiple splice defects in ABCA1 cause low HDL-C in a family with Hypoalphalipoproteinemia and premature coronary disease Jeffrey Rhyne, Myrna M Mantaring, David F Gardner, and Michael Miller PMCID: PMC2642808 Genome screen in familial intracranial aneurysm Tatiana Foroud, Laura Sauerbeck, Robert Brown, Craig Anderson, Daniel Woo, Dawn Kleindorfer, Matthew L Flaherty, Ranjan Deka, Richard Hornung, Irene Meissner, Joan E Bailey-Wilson, Carl Langefeld, Guy Rouleau, E Sander Connolly, Dongbing Lai, Daniel L Koller, John Huston, III, Joseph P Broderick, and the FIA Study Investigators [Familial Intracranial Aneurysm Study Investigators] PMCID: PMC2636777 Common genetic variants of the ion channel transient receptor potential membrane melastatin 6 and 7 (TRPM6 and TRPM7), magnesium intake, and risk of type 2 diabetes in women Yiqing Song, Yi-Hsiang Hsu, Tianhua Niu, JoAnn E Manson, Julie E Buring, and Simin Liu PMCID: PMC2637850 Genetic and other factors determining mannose-binding lectin levels in American Indians: the Strong Heart Study Lyle G Best, Robert E Ferrell, Susan DeCroo, Kari E North, Jean W MacCluer, Ying Zhang, Elisa T Lee, Barbara V Howard, Jason Umans, Vittorio Palmieri, and Peter Garred PMCID: PMC2637849 An Open Access Database of Genome-wide Association Results Andrew D Johnson and Christopher J O'Donnell PMCID: PMC2639349 An investigation of ribosomal protein L10 gene in autism spectrum disorders Xiaohong Gong, Richard Delorme, Fabien Fauchereau, Christelle M Durand, Pauline Chaste, Catalina Betancur, Hany Goubran-Botros, Gudrun Nygren, Henrik Anckarsäter, Maria Rastam, I Carina Gillberg, Svenny Kopp, Marie-Christine Mouren-Simeoni, Christopher Gillberg, Marion Leboyer, and Thomas Bourgeron PMCID: PMC2645381 IL23R in the Swedish, Finnish, Hungarian and Italian populations: association with IBD and psoriasis, and linkage to celiac disease Elisabet Einarsdottir, Lotta LE Koskinen, Emma Dukes, Kati Kainu, Sari Suomela, Maarit Lappalainen, Fabiana Ziberna, Ilma R Korponay-Szabo, Kalle Kurppa, Katri Kaukinen, Róza Ádány, Zsuzsa Pocsai, György Széles, Martti Färkkilä, Ulla Turunen, Leena Halme, Paulina Paavola-Sakki, Tarcisio Not, Serena Vatta, Alessandro Ventura, Robert Löfberg, Leif Torkvist, Francesca Bresso, Jonas Halfvarson, Markku Mäki, Kimmo Kontula, Ulpu Saarialho-Kere, Juha Kere, Mauro D'Amato, and Päivi Saavalainen PMCID: PMC2642807 SLC6A3 and body mass index in the Prostate, Lung, Colorectal and Ovarian Cancer Screening Trial Elizabeth M Azzato, Lindsay M Morton, Andrew W Bergen, Sophia S Wang, Nilanjan Chatterjee, Paul Kvale, Meredith Yeager, Richard B Hayes, Stephen J Chanock, and Neil E Caporaso PMCID: PMC2640369 An extension to a statistical approach for family based association studies provides insights into genetic risk factors for multiple sclerosis in the HLA-DRB1 gene Sreeram V Ramagopalan, Roisin McMahon, David A Dyment, A Dessa Sadovnick, George C Ebers, and Knut M Wittkowski PMCID: PMC2669470 DNA instability in replicating Huntington's disease lymphoblasts Milena Cannella, Vittorio Maglione, Tiziana Martino, Giuseppe Ragona, Luigi Frati, Guo-Min Li, and Ferdinando Squitieri PMCID: PMC2645380 Search for cardiac calcium cycling gene mutations in familial ventricular arrhythmias resembling catecholaminergic polymorphic ventricular tachycardia Annukka Marjamaa, Päivi Laitinen-Forsblom, Annukka M Lahtinen, Matti Viitasalo, Lauri Toivonen, Kimmo Kontula, and Heikki Swan PMCID: PMC2667497 Evaluating the association of common APOA2 variants with type 2 diabetes Konsta Duesing, Guillaume Charpentier, Michel Marre, Jean Tichet, Serge Hercberg, Beverley Balkau, Philippe Froguel, and Fernando Gibson PMCID: PMC2650681 Non-replication of an association of CTNNBL1 polymorphisms and obesity in a population of Central European ancestry Carla IG Vogel, Brandon Greene, André Scherag, Timo D Müller, Susann Friedel, Harald Grallert, Iris M Heid, Thomas Illig, H-Erich Wichmann, Helmut Schäfer, Johannes Hebebrand, and Anke Hinney PMCID: PMC2669797 Association between TCF7L2 gene polymorphisms and susceptibility to Type 2 Diabetes Mellitus: a large Human Genome Epidemiology (HuGE) review and meta-analysis Yu Tong, Ying Lin, Yuan Zhang, Jiyun Yang, Yawei Zhang, Hengchuan Liu, and Ben Zhang PMCID: PMC2653476 Unambiguous molecular detections with multiple genetic approach for the complicated chromosome 22q11 deletion syndrome Chen Yang, Cheng-Hung Huang, Mei-Leng Cheong, Kun-Long Hung, Lung-Huang Lin, Yeong-Seng Yu, Chih-Cheng Chien, Huei-Chen Huang, Chan-Wei Chen, and Chi-Jung Huang PMCID: PMC2656481 Studies of CTNNBL1 and FDFT1 variants and measures of obesity: analyses of quantitative traits and case-control studies in 18,014 Danes Camilla Helene Andreasen, Mette Sloth Mogensen, Knut Borch-Johnsen, Annelli Sandbæk, Torsten Lauritzen, Katrine Almind, Lars Hansen, Torben Jørgensen, Oluf Pedersen, and Torben Hansen PMCID: PMC2669074 The multidrug resistance 1 (MDR1) gene polymorphism G-rs3789243-A is not associated with disease susceptibility in Norwegian patients with colorectal adenoma and colorectal cancer; a case control study Vibeke Andersen, Lene Agerstjerne, Dorte Jensen, Mette Østergaard, Mona Sæbø, Julian Hamfjord, Elin Kure, and Ulla Vogel PMCID: PMC2662819 Gastric inhibitory polypeptide receptor: association analyses for obesity of several polymorphisms in large study groups Carla IG Vogel, André Scherag, Günter Brönner, Thuy T Nguyen, Hai-Jun Wang, Harald Grallert, Alexa Bornhorst, Dieter Rosskopf, Henry Völzke, Thomas Reinehr, Winfried Rief, Thomas Illig, H-Erich Wichmann, Helmut Schäfer, Johannes Hebebrand, and Anke Hinney PMCID: PMC2654891 Haplotype frequencies in a sub-region of chromosome 19q13.3, related to risk and prognosis of cancer, differ dramatically between ethnic groups Mikkel H Schierup, Thomas Mailund, Heng Li, Jun Wang, Anne Tjønneland, Ulla Vogel, Lars Bolund, and Bjørn A Nexø PMCID: PMC2654437 FTO gene variation and measures of body mass in an African population Branwen J Hennig, Anthony J Fulford, Giorgio Sirugo, Pura Rayco-Solon, Andrew T Hattersley, Timothy M Frayling, and Andrew M Prentice PMCID: PMC2666669 Contrasting genetic association of IL2RA with SLE and ANCA – associated vasculitis Edward J Carr, Menna R Clatworthy, Christopher E Lowe, John A Todd, Andrew Wong, Timothy J Vyse, Lavanya Kamesh, Richard A Watts, Paul A Lyons, and Kenneth GC Smith PMCID: PMC2662820 IL6 and CRP haplotypes are associated with COPD risk and systemic inflammation: a case-control study Dilyara G Yanbaeva, Mieke A Dentener, Martijn A Spruit, Jeanine J Houwing-Duistermaat, Daniel Kotz, Valéria Lima Passos, and Emiel FM Wouters PMCID: PMC2660301 High-throughput mutational analysis of TOR1A in primary dystonia Jianfeng Xiao, Robert W Bastian, Joel S Perlmutter, Brad A Racette, Samer D Tabbal, Morvarid Karimi, Randal C Paniello, Andrew Blitzer, Sat Dev Batish, Zbigniew K Wszolek, Ryan J Uitti, Peter Hedera, David K Simon, Daniel Tarsy, Daniel D Truong, Karen P Frei, Ronald F Pfeiffer, Suzhen Gong, Yu Zhao, and Mark S LeDoux PMCID: PMC2661056 Prevalence of pathogenetic MC4R mutations in Italian children with early Onset obesity, tall stature and familial history of obesity Nicola Santoro, Grazia Cirillo, Zhimin Xiang, Rita Tanas, Nella Greggio, Giuseppe Morino, Lorenzo Iughetti, Alessandra Vottero, Alessandro Salvatoni, Mario Di Pietro, Antonio Balsamo, Antonino Crinò, Anna Grandone, Carrie Haskell-Luevano, Laura Perrone, and Emanuele Miraglia del Giudice PMCID: PMC2664798 Polymorphisms in the ADRB2 gene and Graves disease: a case-control study and a meta-analysis of available evidence Xun Chu, Yan Dong, Min Shen, Lingling Sun, Changzheng Dong, Yi Wang, Beilan Wang, Kaiyue Zhang, Qi Hua, Shijie Xu, and Wei Huang PMCID: PMC2666670 Functional and genetic analysis in type 2 diabetes of Liver X receptor alleles – a cohort study Ingrid Dahlman, Maria Nilsson, Harvest F Gu, Cecile Lecoeur, Suad Efendic, Claes G Östenson, Kerstin Brismar, Jan-Åke Gustafsson, Philippe Froguel, Martine Vaxillaire, Karin Dahlman-Wright, and Knut R Steffensen PMCID: PMC2664799 Nitric oxide synthase 2A (NOS2A) polymorphisms are not associated with invasive pneumococcal disease Antony Payton, Debbie Payne, Limangeni A Mankhambo, Daniel L Banda, C Anthony Hart, William ER Ollier, and Enitan D Carrol PMCID: PMC2666671 A novel c.-22T>C mutation in GALK1 promoter is associated with elevated galactokinase phenotype Hyung-Doo Park, Yoon-Kyoung Kim, Kyoung Un Park, Jin Q Kim, Young-Han Song, and Junghan Song PMCID: PMC2667498 Knowledge about hereditary nonpolyposis colorectal cancer; mutation carriers and physicians at equal levels Katarina Domanska, Christina Carlsson, Pär-Ola Bendahl, and Mef Nilbert PMCID: PMC2671498 No relationship between 2',3'-cyclic nucleotide 3'-phosphodiesterase and schizophrenia in the Chinese Han population: an expression study and meta-analysis Ronglin Che, Wei Tang, Jing Zhang, Zhiyun Wei, Zhao Zhang, Ke Huang, Xinzhi Zhao, Jianjun Gao, Guoquan Zhou, Peirong Huang, Lin He, and Yongyong Shi PMCID: PMC2670820 Lack of association between PRNP 1368 polymorphism and Alzheimer's disease or vascular dementia Byung-Hoon Jeong, Kyung-Hee Lee, Yun-Jung Lee, Yun Joong Kim, Eun-Kyoung Choi, Young-Hoon Kim, Young-Sook Cho, Richard I Carp, and Yong-Sun Kim PMCID: PMC2676277 Contribution of type 2 diabetes associated loci in the Arabic population from Tunisia: a case-control study Intissar Ezzidi, Nabil Mtiraoui, Stéphane Cauchi, Emmanuel Vaillant, Aurélie Dechaume, Molka Chaieb, Maha Kacem, Wassim Y Almawi, Philippe Froguel, Touhami Mahjoub, and Martine Vaxillaire PMCID: PMC2678106 The first Dutch SDHB founder deletion in paraganglioma – pheochromocytoma patients Jean-Pierre Bayley, Anneliese EM Grimbergen, Patrick A van Bunderen, Michiel van der Wielen, Henricus P Kunst, Jacques W Lenders, Jeroen C Jansen, Robin PF Dullaart, Peter Devilee, Eleonora P Corssmit, Annette H Vriends, Monique Losekoot, and Marjan M Weiss PMCID: PMC2670821 Mitochondrial DNA haplogroup T is associated with coronary artery disease and diabetic retinopathy: a case control study Barbara Kofler, Edith E Mueller, Waltraud Eder, Olaf Stanger, Richard Maier, Martin Weger, Anton Haas, Robert Winker, Otto Schmut, Bernhard Paulweber, Bernhard Iglseder, Wilfried Renner, Martina Wiesbauer, Irene Aigner, Danijela Santic, Franz A Zimmermann, Johannes A Mayr, and Wolfgang Sperl PMCID: PMC2676278 Genetic variants of the promoter of the heme oxygenase-1 gene and their influence on cardiovascular disease (The Ludwigshafen Risk and Cardiovascular Health Study) Nicola Lüblinghoff, Karl Winkler, Bernhard R Winkelmann, Ursula Seelhorst, Britta Wellnitz, Bernhard O Boehm, Winfried März, and Michael M Hoffmann PMCID: PMC2678993 The mitochondrial DNA T16189C polymorphism and HIV-associated cardiomyopathy: a genotype-phenotype association study Gasnat Shaboodien, Mark E Engel, Faisal F Syed, Joanna Poulton, Motasim Badri, and Bongani M Mayosi PMCID: PMC2679724 C-Reactive protein gene variants are associated with postoperative C-reactive protein levels after coronary artery bypass surgery Tjörvi E Perry, Jochen D Muehlschlegel, Kuang-Yu Liu, Amanda A Fox, Charles D Collard, Simon C Body, Stanton K Shernan, and the CABG Genomics Investigators PMCID: PMC2686694 Suggestion for linkage of chromosome 1p35.2 and 3q28 to plasma adiponectin concentrations in the GOLDN Study Laura J Rasmussen-Torvik, James S Pankow, James M Peacock, Ingrid B Borecki, James E Hixson, Michael Y Tsai, Edmond K Kabagambe, and Donna K Arnett PMCID: PMC2691741 Identification of a pleiotropic locus on chromosome 7q for a composite left ventricular wall thickness factor and body mass index: the HyperGEN Study Weihong Tang, Richard B Devereux, Na Li, Albert Oberman, Dalane W Kitzman, Dabeeru C Rao, Paul N Hopkins, Steven A Claas, and Donna K Arnett PMCID: PMC2692848 Additive effect of LRP8/APOER2 R952Q variant to APOE ε2/ε3/ε4 genotype in modulating apolipoprotein E concentration and the risk of myocardial infarction: a case-control study Nicola Martinelli, Oliviero Olivieri, Gong-Qing Shen, Elisabetta Trabetti, Francesca Pizzolo, Fabiana Busti, Simonetta Friso, Antonella Bassi, Lin Li, Ying Hu, Pier Franco Pignatti, Roberto Corrocher, Qing Kenneth Wang, and Domenico Girelli PMCID: PMC2689206 Genome-wide association study identifies single-nucleotide polymorphism in KCNB1 associated with left ventricular mass in humans: The HyperGEN Study Donna K Arnett, Na Li, Weihong Tang, Dabeeru C Rao, Richard B Devereux, Steven A Claas, Rachel Kraemer, and Ulrich Broeckel PMCID: PMC2692849 Lack of association between polymorphisms of the IL18R1 and IL18RAP genes and cardiovascular risk: the MORGAM Project Marie-Lise Grisoni, Carole Proust, Mervi Alanne, Maylis DeSuremain, Veikko Salomaa, Kari Kuulasmaa, François Cambien, Viviane Nicaud, Per-Gunnar Wiklund, Jarmo Virtamo, Frank Kee, Laurence Tiret, Alun Evans, and David-Alexandre Tregouet PMCID: PMC2692850 Rapid diagnosis of spinal muscular atrophy using High-Resolution Melting Analysis Wan Jin Chen, Wan Juan Dong, Xiao Zhen Lin, Min Ting Lin, Shen Xing Murong, Zhi Ying Wu, and Ning Wang PMCID: PMC2694785 Genetic variation in Fcγ receptor IIa and risk of coronary heart disease: negative results from two large independent populations Mahir Karakas, Michael M Hoffmann, Caren Vollmert, Dietrich Rothenbacher, Christa Meisinger, Bernhard Winkelmann, Natalie Khuseyinova, Bernhard O Böhm, Thomas Illig, Winfried März, and Wolfgang Koenig PMCID: PMC2695426 Functional polymorphism of the NFKB1 gene promoter is related to the risk of dilated cardiomyopathy Bin Zhou, Li Rao, Ying Peng, Yanyun Wang, Yi Li, Linbo Gao, Yu Chen, Hui Xue, Yaping Song, Miao Liao, and Lin Zhang PMCID: PMC2692851 A deletion and a duplication in distal 22q11.2 deletion syndrome region. Clinical implications and review Luis Fernández, Julián Nevado, Fernando Santos, Damià Heine-Suñer, Victor Martinez-Glez, Sixto García-Miñaur, Rebeca Palomo, Alicia Delicado, Isidora López Pajares, María Palomares, Luis García-Guereta, Eva Valverde, Federico Hawkins, and Pablo Lapunzina PMCID: PMC2700091 118 SNPs of folate-related genes and risks of spina bifida and conotruncal heart defects Gary M Shaw, Wei Lu, Huiping Zhu, Wei Yang, Farren BS Briggs, Suzan L Carmichael, Lisa F Barcellos, Edward J Lammer, and Richard H Finnell PMCID: PMC2700092 ACE (I/D) polymorphism and response to treatment in coronary artery disease: a comprehensive database and meta-analysis involving study quality evaluation Georgios Kitsios and Elias Zintzaras PMCID: PMC2700093 Mild forms of hypophosphatasia mostly result from dominant negative effect of severe alleles or from compound heterozygosity for severe and moderate alleles Delphine Fauvert, Isabelle Brun-Heath, Anne-Sophie Lia-Baldini, Linda Bellazi, Agnès Taillandier, Jean-Louis Serre, Philippe de Mazancourt, and Etienne Mornet PMCID: PMC2702372 PPARγ Pro12Ala polymorphism and risk of acute coronary syndrome in a prospective study of Danes Ulla Vogel, Stine Segel, Claus Dethlefsen, Anne Tjønneland, Anne Thoustrup Saber, Håkan Wallin, Majken K Jensen, Erik B Schmidt, Paal Skytt Andersen, and Kim Overvad PMCID: PMC2698834 Mutation analysis of "Endoglin" and "Activin receptor-like kinase" genes in German patients with hereditary hemorrhagic telangiectasia and the value of rapid genotyping using an allele-specific PCR-technique Sadick Haneen, Hage Johanna, Goessler Ulrich, Stern-Straeter Jens, Riedel Frank, Hoermann Karl, and Bugert Peter PMCID: PMC2701415 A mitotic recombination map proximal to the APC locus on chromosome 5q and assessment of influences on colorectal cancer risk Kimberley Howarth, Susanna Ranta, Eitan Winter, Ana Teixeira, Helmut Schaschl, John J Harvey, Andrew Rowan, Angela Jones, Sarah Spain, Susan Clark, Thomas Guenther, Aengus Stewart, Andrew Silver, and Ian Tomlinson PMCID: PMC2705358 Homozygosity and risk of childhood death due to invasive bacterial disease Emily J Lyons, William Amos, James A Berkley, Isaiah Mwangi, Mohammed Shafi, Thomas N Williams, Charles R Newton, Norbert Peshu, Kevin Marsh, J Anthony G Scott, and Adrian VS Hill PMCID: PMC2714084 The INSIG2 rs7566605 genetic variant does not play a major role in obesity in a sample of 24,722 individuals from four cohorts Jan Bressler, Myriam Fornage, Craig L Hanis, Wen Hong Linda Kao, Cora E Lewis, Ruth McPherson, Robert Dent, Thomas H Mosley, Len A Pennacchio, and Eric Boerwinkle PMCID: PMC2706232 Molecular analysis of the APC and MUTYH genes in Galician and Catalonian FAP families: a different spectrum of mutations? Nuria Gómez-Fernández, Sergi Castellví-Bel, Ceres Fernández-Rozadilla, Francesc Balaguer, Jenifer Muñoz, Irene Madrigal, Montserrat Milà, Begoña Graña, Ana Vega, Antoni Castells, Ángel Carracedo, and Clara Ruiz-Ponte PMCID: PMC2702373 Copy-number variation in BMPR2 is not associated with the pathogenesis of pulmonary arterial hypertension Jennifer A Johnson, Cindy L Vnencak-Jones, Joy D Cogan, James E Loyd, and James West PMCID: PMC2706815 A functional polymorphism in the SPINK5 gene is associated with asthma in a Chinese Han Population Qiji Liu, Yu Xia, Wenjing Zhang, Jisheng Li, Pin Wang, Huaichen Li, Chunhua Wei, and Yaoqin Gong PMCID: PMC2709655 Parental diabetes status reveals association of mitochondrial DNA haplogroup J1 with type 2 diabetes Jeanette Feder, Ofer Ovadia, Ilana Blech, Josef Cohen, Julio Wainstein, Ilana Harman-Boehm, Benjamin Glaser, and Dan Mishmar PMCID: PMC2706816 Association study of SHANK3 gene polymorphisms with autism in Chinese Han population Jian Qin, Meixiang Jia, Lifang Wang, Tianlan Lu, Yan Ruan, Jing Liu, Yanqing Guo, Jishui Zhang, Xiaoling Yang, Weihua Yue, and Dai Zhang PMCID: PMC2721832 Lack of association of TIM3 polymorphisms and allergic phenotypes Jian Zhang, Denise Daley, Loubna Akhabir, Dorota Stefanowicz, Moira Chan-Yeung, Allan B Becker, Catherine Laprise, Peter D Paré, and Andrew J Sandford PMCID: PMC2711936 Association between a rare SNP in the second intron of human Agouti related protein gene and increased BMI Ineta Kalnina, Ivo Kapa, Valdis Pirags, Vita Ignatovica, Helgi B Schiöth, and Janis Klovins PMCID: PMC2714840 Association between ACE gene I/D polymorphisms and hyperandrogenism in women with Polycystic Ovary Syndrome (PCOS) and controls Jing sun, Haijian fan, Yena Che, Yunxia Cao, Xiaoke Wu, Hai-xiang Sun, Fengjing Liang, Long Yi, and Yong Wang PMCID: PMC2714507 Low frequency of the TIRAP S180L polymorphism in Africa, and its potential role in malaria, sepsis, and leprosy Lutz Hamann, Oliver Kumpf, Ron P Schuring, Erkan Alpsoy, George Bedu-Addo, Ulrich Bienzle, Linda Oskam, Frank P Mockenhaupt, and Ralf R Schumann PMCID: PMC2717080 Absence of association between SERPINE2 genetic polymorphisms and chronic obstructive pulmonary disease in Han Chinese: a case-control cohort study Li Zhong, Wei-Ping Fu, Chang Sun, Lu-Ming Dai, and Ya-Ping Zhang PMCID: PMC2719615 Type 2 diabetes gene TCF7L2 polymorphism is not associated with fetal and postnatal growth in two birth cohort studies Dennis O Mook-Kanamori, Sandra WK de Kort, Cornelia M van Duijn, Andre G Uitterlinden, Albert Hofman, Henriëtte A Moll, Eric AP Steegers, Anita CS Hokken-Koelega, and Vincent WV Jaddoe PMCID: PMC2722586 No association of CDK5 genetic variants with Alzheimer's disease risk José Luis Vázquez-Higuera, Ignacio Mateo, Pascual Sánchez-Juan, Eloy Rodríguez-Rodríguez, Jon Infante, José Berciano, and Onofre Combarros PMCID: PMC2716333 Mutations in STK11 gene in Czech Peutz-Jeghers patients Peter Vasovčák, Alena Puchmajerová, Jan Roubalík, and Anna Křepelová PMCID: PMC2726128 OPA1-related dominant optic atrophy is not strongly influenced by mitochondrial DNA background Denis Pierron, Marc Ferré, Christophe Rocher, Arnaud Chevrollier, Pascal Murail, Didier Thoraval, Patrizia Amati-Bonneau, Pascal Reynier, and Thierry Letellier PMCID: PMC2726129 Association study between vitamin D receptor gene polymorphisms and asthma in the chinese han population: a case-control study Ahlem Saadi, Guimin Gao, Huaichen Li, Chunhua Wei, Yaoqin Gong, and Qiji Liu PMCID: PMC2720948 A new CYP21A1P/CYP21A2 chimeric gene identified in an Italian woman suffering from classical congenital adrenal hyperplasia form Paola Concolino, Enrica Mello, Angelo Minucci, Emiliano Giardina, Cecilia Zuppi, Vincenzo Toscano, and Ettore Capoluongo PMCID: PMC2718876 Functional analysis of the C-reactive protein (CRP) gene -717A>G polymorphism associated with coronary heart disease Laiyuan Wang, Xiangfeng Lu, Yun Li, Hongfan Li, Shufeng Chen, and Dongfeng Gu PMCID: PMC2723087 Novel quantitative trait locus is mapped to chromosome 12p11 for left ventricular mass in Dominican families: the Family Study of Stroke Risk and Carotid Atherosclerosis Liyong Wang, Ashley Beecham, Marco R Di Tullio, Susan Slifer, Susan H Blanton, Tatjana Rundek, and Ralph L Sacco PMCID: PMC2724377 Constitutive RB1 mutation in a child conceived by in vitro fertilization: implications for genetic counseling Raquel H Barbosa, Fernando R Vargas, Evandro Lucena, Cibele R Bonvicino, and Héctor N Seuánez PMCID: PMC2726130 A mutation in CTSK gene in an autosomal recessive pycnodysostosis family of Pakistani origin Muhammad Naeem, Sabeen Sheikh, and Wasim Ahmad PMCID: PMC2736932 Common polymorphisms within the NR4A3 locus, encoding the orphan nuclear receptor Nor-1, are associated with enhanced β-cell function in non-diabetic subjects Peter Weyrich, Harald Staiger, Alena Stančáková, Silke A Schäfer, Kerstin Kirchhoff, Susanne Ullrich, Felicia Ranta, Baptist Gallwitz, Norbert Stefan, Fausto Machicao, Johanna Kuusisto, Markku Laakso, Andreas Fritsche, and Hans-Ulrich Häring PMCID: PMC2741445 New mutations in the PKD1 gene in Czech population with autosomal dominant polycystic kidney disease Jitka Stekrova, Jana Reiterova, Stanislava Svobodova, Vera Kebrdlova, Petr Lnenicka, Miroslav Merta, Ondrej Viklicky, and Milada Kohoutova PMCID: PMC2736583 Association of hypoxia inducible factor-1 alpha gene polymorphism with both type 1 and type 2 diabetes in a Caucasian (Hungarian) sample Geza Nagy, Reka Kovacs-Nagy, Eva Kereszturi, Aniko Somogyi, Anna Szekely, Nora Nemeth, Nora Hosszufalusi, Pal Panczel, Zsolt Ronai, and Maria Sasvari-Szekely PMCID: PMC2736933 Microsatellites and SNPs linkage analysis in a Sardinian genetic isolate confirms several essential hypertension loci previously identified in different populations Evelina Mocci, Maria P Concas, Manuela Fanciulli, Nicola Pirastu, Mauro Adamo, Valentina Cabras, Cristina Fraumene, Ivana Persico, Alessandro Sassu, Andrea Picciau, Dionigio A Prodi, Donatella Serra, Ginevra Biino, Mario Pirastu, and Andrea Angius PMCID: PMC2741446 Frequency of single nucleotide polymorphisms in NOD1 gene of ulcerative colitis patients: a case-control study in the Indian population Ravi Verma, Vineet Ahuja, and Jaishree Paul PMCID: PMC2748065 The promoter polymorphism -232C/G of the PCK1 gene is associated with type 2 diabetes in a UK-resident South Asian population Simon D Rees, Abigail C Britten, Srikanth Bellary, J Paul O'Hare, Sudhesh Kumar, Anthony H Barnett, and M Ann Kelly PMCID: PMC2749022 A MANBA mutation resulting in residual beta-mannosidase activity associated with severe leukoencephalopathy: a possible pseudodeficiency variant Frédérique Sabourdy, Pierre Labauge, Hilde Monica Frostad Riise Stensland, Michèle Nieto, Violeta Latorre Garcés, Dimitri Renard, Giovanni Castelnovo, Nicolas de Champfleur, and Thierry Levade PMCID: PMC2745377 Otitis media: a genome-wide linkage scan with evidence of susceptibility loci within the 17q12 and 10q22.3 regions Margaretha L Casselbrant, Ellen M Mandel, Jeesun Jung, Robert E Ferrell, Kathleen Tekely, Jin P Szatkiewicz, Amrita Ray, and Daniel E Weeks PMCID: PMC2751750 Genome-wide association reveals three SNPs associated with sporadic amyotrophic lateral sclerosis through a two-locus analysis Qiuying Sha, Zhaogong Zhang, Jennifer C Schymick, Bryan J Traynor, and Shuanglin Zhang PMCID: PMC2752455 Exon deletions and intragenic insertions are not rare in ataxia with oculomotor apraxia 2 Veronica Bernard, Martina Minnerop, Katrin Bürk, Friedmar Kreuz, Gabriele Gillessen-Kaesbach, and Christine Zühlke PMCID: PMC2749023 Identification of a region required for TSC1 stability by functional analysis of TSC1 missense mutations found in individuals with tuberous sclerosis complex Melika Mozaffari, Marianne Hoogeveen-Westerveld, David Kwiatkowski, Julian Sampson, Rosemary Ekong, Sue Povey, Johan T den Dunnen, Ans van den Ouweland, Dicky Halley, and Mark Nellist PMCID: PMC2753308 Array comparative genomic hybridization and flow cytometry analysis of spontaneous abortions and mors in utero samples Björn Menten, Katrien Swerts, Barbara Delle Chiaie, Sandra Janssens, Karen Buysse, Jan Philippé, and Frank Speleman PMCID: PMC2753309 HECTD2, a candidate susceptibility gene for Alzheimer's disease on 10q Sarah E Lloyd, Martin Rossor, Nick Fox, Simon Mead, and John Collinge PMCID: PMC2753310 Evaluation of nine candidate genes in patients with normal tension glaucoma: a case control study Christiane Wolf, Eugen Gramer, Bertram Müller-Myhsok, Francesca Pasutto, Eva Reinthal, Bernd Wissinger, and Nicole Weisschuh PMCID: PMC2751751 Influences of polymorphic variants of DRD2 and SLC6A3 genes, and their combinations on smoking in Polish population Alicja Sieminska, Krzysztof Buczkowski, Ewa Jassem, Marek Niedoszytko, and Ewa Tkacz PMCID: PMC2758863 Locations and patterns of meiotic recombination in two-generation pedigrees Jason C Ting, Elisha DO Roberson, Duane G Currier, and Jonathan Pevsner PMCID: PMC2760526 Variation in the UCP2 and UCP3 genes associates with abdominal obesity and serum lipids: The Finnish Diabetes Prevention Study Titta Salopuro, Leena Pulkkinen, Jaana Lindström, Marjukka Kolehmainen, Anna-Maija Tolppanen, Johan G Eriksson, Timo T Valle, Sirkka Aunola, Pirjo Ilanne-Parikka, Sirkka Keinänen-Kiukaanniemi, Jaakko Tuomilehto, Markku Laakso, and Matti Uusitupa PMCID: PMC2754982 Two-stage case-control association study of dopamine-related genes and migraine Roser Corominas, Marta Ribases, Montserrat Camiña, Ester Cuenca-León, Julio Pardo, Susana Boronat, María-Jesús Sobrido, Bru Cormand, and Alfons Macaya PMCID: PMC2758864 Association analyses of the INSIG2 polymorphism in the obesity and cholesterol levels of Korean populations Seongwon Cha, Imhoi Koo, Sun Mi Choi, Byung Lae Park, Kil Soo Kim, Jae-Ryong Kim, Hyoung Doo Shin, and Jong Yeol Kim PMCID: PMC2759923 Genomewide association study for onset age in Parkinson disease Jeanne C Latourelle, Nathan Pankratz, Alexandra Dumitriu, Jemma B Wilk, Stefano Goldwurm, Gianni Pezzoli, Claudio B Mariani, Anita L DeStefano, Cheryl Halter, James F Gusella, William C Nichols, Richard H Myers, Tatiana Foroud, and the PSG -PROGENI and GenePD Investigators, Coordinators and Molecular Genetic Laboratories PMCID: PMC2758866 Genetic association study of selected candidate genes (ApoB, LPL, Leptin) and telomere length in obese and hypertensive individuals Birajalaxmi Das, Nilambari Pawar, Divyalakshmi Saini, and M Seshadri PMCID: PMC2754983 Analysis of TACI mutations in CVID & RESPI patients who have inherited HLA B*44 or HLA*B8 Manda L Waldrep, Yingxin Zhuang, and Harry W Schroeder, Jr PMCID: PMC2760525 Do the mutations of C1GALT1C1 gene play important roles in the genetic susceptibility to Chinese IgA nephropathy? Gui-Sen Li, Guang-Jun Nie, Hong Zhang, Ji-Cheng LV, Yan Shen, and Hai-Yan Wang PMCID: PMC2761879 Single nucleotide polymorphisms in obesity-related genes and all-cause and cause-specific mortality: a prospective cohort study Lisa Gallicchio, Howard H Chang, Dana K Christo, Lucy Thuita, Han Yao Huang, Paul Strickland, Ingo Ruczinski, Sandra Clipp, and Kathy J Helzlsouer PMCID: PMC2763854 The role of CACNA1S in predisposition to malignant hyperthermia Danielle Carpenter, Christopher Ringrose, Vincenzo Leo, Andrew Morris, Rachel L Robinson, P Jane Halsall, Philip M Hopkins, and Marie-Anne Shaw PMCID: PMC2770053 Identification of a novel functional deletion variant in the 5'-UTR of the DJ-1 gene Rowena J Keyser, Lize van der Merwe, Mauritz Venter, Craig Kinnear, Louise Warnich, Jonathan Carr, and Soraya Bardien PMCID: PMC2767350 Genetic effect of CysLTR2 polymorphisms on its mRNA synthesis and stabilization Jeong-Ah Shin, Hun Soo Chang, Se-Min Park, An-Soo Jang, Sung Woo Park, Jong Sook Park, Soo-Taek Uh, Gune Il Lim, Taiyoun Rhim, Mi-Kyeong Kim, Inseon S Choi, Il Yup Chung, Byung Lae Park, Hyoung Doo Shin, and Choon-Sik Park PMCID: PMC2770054 Suggestive linkage detected for blood pressure related traits on 2q and 22q in the population on the Samoan islands Karolina Åberg, Feng Dai, Satupaitea Viali, John Tuitele, Guangyun Sun, Subba R Indugula, Ranjan Deka, Daniel E Weeks, and Stephen T McGarvey PMCID: PMC2770055 Association of APOE polymorphism with chronic kidney disease in a nationally representative sample: a Third National Health and Nutrition Examination Survey (NHANES III) Genetic Study Audrey Y Chu, Rulan S Parekh, Brad C Astor, Josef Coresh, Yvette Berthier-Schaad, Michael W Smith, Alan R Shuldiner, and Wen Hong L Kao PMCID: PMC2770999 Variation in cytokine genes can contribute to severity of acetabular osteolysis and risk for revision in patients with ABG 1 total hip arthroplasty: a genetic association study Jiri Gallo, Frantisek Mrazek, and Martin Petrek PMCID: PMC2774318 Telomere shortening may be associated with human keloids Bruna De Felice, Robert R Wilson, and Massimo Nacca PMCID: PMC2774319 Candidate genetic analysis of plasma high-density lipoprotein-cholesterol and severity of coronary atherosclerosis Suet Nee Chen, Mehmet Cilingiroglu, Josh Todd, Raffaella Lombardi, James T Willerson, Antonio M Gotto, Jr, Christie M Ballantyne, and AJ Marian PMCID: PMC2775733 Other Issues: Journal List
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