| | Other Issues: previous | next | latest | archiveDatabase The FH mutation database: an online database of fumarate hydratase mutations involved in the MCUL (HLRCC) tumor syndrome and congenital fumarase deficiency Jean-Pierre Bayley, Virpi Launonen, and Ian PM Tomlinson PMCID: PMC2322961 French database of children and adolescents with Prader-Willi syndrome Catherine Molinas, Laurent Cazals, Gwenaelle Diene, Melanie Glattard, Catherine Arnaud, Maithe Tauber, and French Reference Centre for PWS (FrRefC-PWS) PMCID: PMC2569911 Technical Advances Multiple strand displacement amplification of mitochondrial DNA from clinical samples Samantha Maragh, John P Jakupciak, Paul D Wagner, William N Rom, David Sidransky, Sudhir Srivastava, and Catherine D O'Connell PMCID: PMC2268916 Minisequencing mitochondrial DNA pathogenic mutations Vanesa Álvarez-Iglesias, Francisco Barros, Ángel Carracedo, and Antonio Salas PMCID: PMC2377236 Design considerations in a sib-pair study of linkage for susceptibility loci in cancer Richard A Kerber, Christopher I Amos, Beow Y Yeap, Dianne M Finkelstein, and Duncan C Thomas PMCID: PMC2488325 Research Articles C4B null alleles are not associated with genetic polymorphisms in the adjacent gene CYP21A2 in autism Thayne L Sweeten, Daniel W Odell, J Dennis Odell, and Anthony R Torres PMCID: PMC2265260 Array based characterization of a terminal deletion involving chromosome subband 15q26.2: an emerging syndrome associated with growth retardation, cardiac defects and developmental delay Josef Davidsson, Anna Collin, Gudrun Björkhem, and Maria Soller PMCID: PMC2248164 Genetic loci linked to Type 1 Diabetes and Multiple Sclerosis families in Sardinia Maristella Pitzalis, Patrizia Zavattari, Raffaele Murru, Elisabetta Deidda, Magdalena Zoledziewska, Daniela Murru, Loredana Moi, Costantino Motzo, Valeria Orrù, Gianna Costa, Elisabetta Solla, Elisabetta Fadda, Lucia Schirru, Maria Cristina Melis, Marina Lai, Cristina Mancosu, Stefania Tranquilli, Stefania Cuccu, Marcella Rolesu, Maria Antonietta Secci, Daniela Corongiu, Daniela Contu, Rosanna Lampis, Annalisa Nucaro, Gavino Pala, Adolfo Pacifico, Mario Maioli, Paola Frongia, Margherita Chessa, Rossella Ricciardi, Stanislao Lostia, Anna Maria Marinaro, Anna Franca Milia, Novella Landis, Maria Antonietta Zedda, Michael B Whalen, Federico Santoni, Maria Giovanna Marrosu, Marcella Devoto, and Francesco Cucca PMCID: PMC2259316 FTO gene SNPs associated with extreme obesity in cases, controls and extremely discordant sister pairs R Arlen Price, Wei-Dong Li, and Hongyu Zhao PMCID: PMC2254593 DNA sequence variants in the LOXL1 gene are associated with pseudoexfoliation glaucoma in a U.S. clinic-based population with broad ethnic diversity Bao Jian Fan, Louis Pasquale, Cynthia L Grosskreutz, Douglas Rhee, Teresa Chen, Margaret M DeAngelis, Ivana Kim, Elizabeth del Bono, Joan W Miller, Tiansen Li, Jonathan L Haines, and Janey L Wiggs PMCID: PMC2270804 Complex aetiology of an apparently Mendelian form of Mental Retardation Ana Beleza-Meireles, Ingrid Kockum, Qiu-Ping Yuan, Simone Picelli, Lennart Wetterberg, Karl-Henrik Gustavson, and Martin Schalling PMCID: PMC2259315 Common variants of the TCF7L2 gene are associated with increased risk of type 2 diabetes mellitus in a UK-resident South Asian population Simon D Rees, Srikanth Bellary, Abigail C Britten, J Paul O'Hare, Sudhesh Kumar, Anthony H Barnett, and M Ann Kelly PMCID: PMC2276194 Association between variations in the TLR4 gene and incident type 2 diabetes is modified by the ratio of total cholesterol to HDL-cholesterol Melanie Kolz, Jens Baumert, Martina Müller, Natalie Khuseyinova, Norman Klopp, Barbara Thorand, Christine Meisinger, Christian Herder, Wolfgang Koenig, and Thomas Illig PMCID: PMC2292153 Functional characterisation of the TSC1–TSC2 complex to assess multiple TSC2 variants identified in single families affected by tuberous sclerosis complex Mark Nellist, Őzgür Sancak, Miriam Goedbloed, Alwin Adriaans, Marja Wessels, Anneke Maat-Kievit, Marieke Baars, Charlotte Dommering, Ans van den Ouweland, and Dicky Halley PMCID: PMC2291454 Characterization of novel isoforms and evaluation of SNF2L/SMARCA1 as a candidate gene for X-linked mental retardation in 12 families linked to Xq25-26 Maribeth A Lazzaro, Matthew AM Todd, Paul Lavigne, Dominic Vallee, Adriana De Maria, and David J Picketts PMCID: PMC2266716 No evidence for association between BMI and 10 candidate genes at ages 4, 7 and 10 in a large UK sample of twins Claire MA Haworth, Lee M Butcher, Sophia J Docherty, Jane Wardle, and Robert Plomin PMCID: PMC2270805 Role of TGF-β1 haplotypes in the occurrence of myocardial infarction in young Italian patients Francesca Crobu, Luigi Palumbo, Erica Franco, Serena Bergerone, Sonia Carturan, Simonetta Guarrera, Simone Frea, Gianpaolo Trevi, Alberto Piazza, and Giuseppe Matullo PMCID: PMC2270803 Evaluating the association of common PBX1 variants with type 2 diabetes Konsta Duesing, Guillaume Charpentier, Michel Marre, Jean Tichet, Serge Hercberg, Beverley Balkau, Philippe Froguel, and Fernando Gibson PMCID: PMC2292156 Genetic variability of histamine receptors in patients with Parkinson's disease Elena García-Martín, P Ayuso, Antonio Luengo, Carmen Martínez, and José AG Agúndez PMCID: PMC2292154 Aryl hydrocarbon receptor nuclear translocator (ARNT) gene as a positional and functional candidate for type 2 diabetes and prediabetic intermediate traits: Mutation detection, case-control studies, and gene expression analysis Swapan K Das, Neeraj K Sharma, Winston S Chu, Hua Wang, and Steven C Elbein PMCID: PMC2323364 Genes implicated in multiple sclerosis pathogenesis from consilience of genotyping and expression profiles in relapse and remission Ariel T Arthur, Patricia J Armati, Chris Bye, Southern MS Genetics Consortium, Robert NS Heard, Graeme J Stewart, John D Pollard, and David R Booth PMCID: PMC2324081 SNP selection for genes of iron metabolism in a study of genetic modifiers of hemochromatosis Clare C Constantine, Lyle C Gurrin, Christine E McLaren, Melanie Bahlo, Gregory J Anderson, Chris D Vulpe, Susan M Forrest, Katrina J Allen, Dorota M Gertig, and the HealthIron Investigators PMCID: PMC2289803 Genetic association study of synphilin-1 in idiopathic Parkinson's disease Ronny Myhre, Helge Klungland, Matthew J Farrer, and Jan O Aasly PMCID: PMC2329608 Influence of leukotriene gene polymorphisms on chronic rhinosinusitis Hasan Al-Shemari, Yohan Bossé, Thomas J Hudson, Myrna Cabaluna, Melanie Duval, Mathieu Lemire, Sophie Vallee-Smedja, Saul Frenkiel, and Martin Desrosiers PMCID: PMC2292155 Lack of association of genetic variation in chromosome region 15q14-22.1 with type 2 diabetes in a Japanese population Yuka Yamaguchi, Maki Moritani, Toshihito Tanahashi, Dai Osabe, Kyoko Nomura, Yuka Fujita, Parvaneh Keshavarz, Kiyoshi Kunika, Naoto Nakamura, Toshikazu Yoshikawa, Eiichiro Ichiishi, Hiroshi Shiota, Natsuo Yasui, Hiroshi Inoue, and Mitsuo Itakura PMCID: PMC2324080 Failure to replicate an association of SNPs in the oxidized LDL receptor gene (OLR1) with CAD Joshua W Knowles, Themistocles L Assimes, Eric Boerwinkle, Stephen P Fortmann, Alan Go, Megan L Grove, Mark Hlatky, Carlos Iribarren, Jun Li, Richard Myers, Neil Risch, Stephen Sidney, Audrey Southwick, Kelly A Volcik, and Thomas Quertermous PMCID: PMC2322963 Identification of a novel KCNQ1 mutation associated with both Jervell and Lange-Nielsen and Romano-Ward forms of long QT syndrome in a Chinese family Su Zhang, Ke Yin, Xiang Ren, Pengyun Wang, Shirong Zhang, Lingling Cheng, Junguo Yang, Jing Yu Liu, Mugen Liu, and Qing Kenneth Wang PMCID: PMC2322962 N-acetyltransferase 8, a positional candidate for blood pressure and renal regulation: resequencing, association and in silico study Peeter Juhanson, Katrin Kepp, Elin Org, Gudrun Veldre, Piret Kelgo, Mai Rosenberg, Margus Viigimaa, and Maris Laan PMCID: PMC2330028 Array-CGH in patients with Kabuki-like phenotype: Identification of two patients with complex rearrangements including 2q37 deletions and no other recurrent aberration Ivon Cuscó, Miguel del Campo, Mireia Vilardell, Eva González, Blanca Gener, Enrique Galán, Laura Toledo, and Luis A Pérez-Jurado PMCID: PMC2358878 A novel c.5308_5311delGAGA mutation in Senataxin in a Cypriot family with an autosomal recessive cerebellar ataxia Paschalis Nicolaou, Anthi Georghiou, Christina Votsi, Lefkos T Middleton, Eleni Zamba-Papanicolaou, and Kyproula Christodoulou PMCID: PMC2330029 Ser80Ile mutation and a concurrent Pro25Leu variant of the VHL gene in an extended Hungarian von Hippel-Lindau family Attila Patocs, Peter Gergics, Katalin Balogh, Miklos Toth, Ferenc Fazakas, Istvan Liko, and Karoly Racz PMCID: PMC2364614 Gene polymorphisms of superoxide dismutases and catalase in diabetes mellitus Milan Flekac, Jan Skrha, Jirina Hilgertova, Zdena Lacinova, and Marcela Jarolimkova PMCID: PMC2386118 Cathepsin D SNP associated with increased risk of variant Creutzfeldt-Jakob disease Matthew T Bishop, Gabor G Kovacs, Pascual Sanchez-Juan, and Richard SG Knight PMCID: PMC2374769 Heritability of cardiovascular risk factors in a Brazilian population: Baependi Heart Study Camila M de Oliveira, Alexandre C Pereira, Mariza de Andrade, Júlia M Soler, and José E Krieger PMCID: PMC2386446 Genetic and functional association of FAM5C with myocardial infarction Jessica J Connelly, Svati H Shah, Jennifer F Doss, Shera Gadson, Sarah Nelson, David R Crosslin, A Brent Hale, Xuemei Lou, Ty Wang, Carol Haynes, David Seo, David C Crossman, Vincent Mooser, Christopher B Granger, Christopher JH Jones, William E Kraus, Elizabeth R Hauser, and Simon G Gregory PMCID: PMC2383879 Association of limbic system-associated membrane protein (LSAMP) to male completed suicide Anne Must, Gunnar Tasa, Aavo Lang, Eero Vasar, Sulev Kõks, Eduard Maron, and Marika Väli PMCID: PMC2386445 Association between single nucleotide polymorphisms in the mu opioid receptor gene (OPRM1) and self-reported responses to alcohol in American Indians Cindy L Ehlers, Penelope A Lind, and Kirk C Wilhelmsen PMCID: PMC2386778 Effects of interacting networks of cardiovascular risk genes on the risk of type 2 diabetes mellitus (the CODAM study) Marleen MJ van Greevenbroek, Jian Zhang, Carla JH van der Kallen, Paul MH Schiffers, Edith JM Feskens, and Tjerk WA de Bruin PMCID: PMC2391157 A luteinizing hormone receptor intronic variant is significantly associated with decreased risk of Alzheimer's disease in males carrying an apolipoprotein E ε4 allele Ryan J Haasl, M Reza Ahmadi, Sivan Vadakkadath Meethal, Carey E Gleason, Sterling C Johnson, Sanjay Asthana, Richard L Bowen, and Craig S Atwood PMCID: PMC2396156 Association between promoter -1607 polymorphism of MMP1 and Lumbar Disc Disease in Southern Chinese You-Qiang Song, Daniel WH Ho, Jaro Karppinen, Patrick YP Kao, Bao-Jian Fan, Keith DK Luk, Shea-Ping Yip, John CY Leong, Kathryn SE Cheah, Pak Sham, Danny Chan, and Kenneth MC Cheung PMCID: PMC2386444 The estrogen hypothesis of Schizophrenia implicates glucose metabolism: Association study in three independent samples Line Olsen, Thomas Hansen, Klaus D Jakobsen, Srdjan Djurovic, Ingrid Melle, Ingrid Agartz, Haakan Hall, Henrik Ullum, Sally Timm, August G Wang, Erik G Jönsson, Ole A Andreassen, and Thomas Werge PMCID: PMC2391158 Distribution of the FYBES and RHCE*ce(733C>G) alleles in an Argentinean population: Implications for transfusion medicine Carlos M Cotorruelo, Silvana V Fiori, Silvia E García Borrás, Liliana L Racca, Claudia S Biondi, and Amelia L Racca PMCID: PMC2412855 New evidence of a mitochondrial genetic background paradox: Impact of the J haplogroup on the A3243G mutation Denis Pierron, Christophe Rocher, Patricia Amati-Bonneau, Pascal Reynier, Marie-Laure Martin-Négrier, Stéphane Allouche, Cécile Batandier, Benedicte Mousson de Camaret, Catherine Godinot, Agnes Rotig, Delphine Feldmann, Christine Bellanne-Chantelot, Benoit Arveiler, Erwann Pennarun, Rodrigue Rossignol, Marc Crouzet, Pascal Murail, Didier Thoraval, and Thierry Letellier PMCID: PMC2409300 Immunological profile in a family with nephrogenic diabetes insipidus with a novel 11 kb deletion in AVPR2 and ARHGAP4 genes Masaya Fujimoto, Kohsuke Imai, Kenji Hirata, Reiichi Kashiwagi, Yoichi Morinishi, Katsuhiko Kitazawa, Sei Sasaki, Tadao Arinami, Shigeaki Nonoyama, and Emiko Noguchi PMCID: PMC2413213 Association of the 894G>T polymorphism in the endothelial nitric oxide synthase gene with risk of acute myocardial infarction George K Andrikopoulos, Dimitris K Grammatopoulos, Stylianos E Tzeis, Sevasti I Zervou, Dimitris J Richter, Michalis N Zairis, Elias J Gialafos, Dimitris C Sakellariou, Stefanos G Foussas, Antonis S Manolis, Christodoulos I Stefanadis, Pavlos K Toutouzas, Edward W Hillhouse, and The GEMIG study investigators PMCID: PMC2424037 A novel de novo mutation in the serine-threonine kinase STK11 gene in a Korean patient with Peutz-Jeghers syndrome Jong-Ha Yoo, Jee-Hyoung Yoo, Yoon-Jung Choi, Jung-Gu Kang, Young-Kyu Sun, Chang-Seok Ki, Kyung-A Lee, and Jong-Rak Choi PMCID: PMC2430547 The genetic susceptibility to type 2 diabetes may be modulated by obesity status: implications for association studies Stéphane Cauchi, Kevin T Nead, Hélène Choquet, Fritz Horber, Natascha Potoczna, Beverley Balkau, Michel Marre, Guillaume Charpentier, Philippe Froguel, and David Meyre PMCID: PMC2412856 Polymorphisms near EXOC4 and LRGUK on chromosome 7q32 are associated with Type 2 Diabetes and fasting glucose; The NHLBI Family Heart Study Jason M Laramie, Jemma B Wilk, Sally L Williamson, Michael W Nagle, Jeanne C Latourelle, Jennifer E Tobin, Michael A Province, Ingrid B Borecki, and Richard H Myers PMCID: PMC2409301 Evaluation of the association between the common E469K polymorphism in the ICAM-1 gene and diabetic nephropathy among type 1 diabetic patients in GoKinD population Jun Ma, Dongying Zhang, Kerstin Brismar, Suad Efendic, and Harvest F Gu PMCID: PMC2424038 A novel WFS1 mutation in a family with dominant low frequency sensorineural hearing loss with normal VEMP and EcochG findings Naomi F Bramhall, Jeremy C Kallman, Aimee M Verrall, and Valerie A Street PMCID: PMC2435521 Genome-wide association study for renal traits in the Framingham Heart and Atherosclerosis Risk in Communities Studies Anna Kottgen, Wen Hong L Kao, Shih-Jen Hwang, Eric Boerwinkle, Qiong Yang, Daniel Levy, Emelia J Benjamin, Martin G Larson, Brad C Astor, Josef Coresh, and Caroline S Fox PMCID: PMC2430944 Variation in WNT7A is unlikely to be a cause of familial Congenital Talipes Equinovarus Guoqing Liu, Julie Inglis, Amanda Cardy, Duncan Shaw, Sukhy Sahota, Raoul Hennekam, Linda Sharp, and Zosia Miedzybrodzka PMCID: PMC2438341 The NEI/NCBI dbGAP database: Genotypes and haplotypes that may specifically predispose to risk of neovascular age-related macular degeneration Hong Zhang, Margaux A Morrison, Andy DeWan, Scott Adams, Michael Andreoli, Nancy Huynh, Maureen Regan, Alison Brown, Joan W Miller, Ivana K Kim, Josephine Hoh, and Margaret M DeAngelis PMCID: PMC2441616 The association between genetic variants in hMLH1 and hMSH2 and the development of sporadic colorectal cancer in the Danish population Lise Lotte Christensen, Bo E Madsen, Friedrik P Wikman, Carsten Wiuf, Karen Koed, Anne Tjønneland, Anja Olsen, Ann-Christine Syvänen, Claus L Andersen, and Torben F Ørntoft PMCID: PMC2438340 Mutation spectrum of 122 hemophilia A families from Taiwanese population by LD-PCR, DHPLC, multiplex PCR and evaluating the clinical application of HRM Shin-Yu Lin, Yi-Ning Su, Chia-Cheng Hung, Woei Tsay, Shyh-Shin Chiou, Chieh-Ting Chang, Hong-Nerng Ho, and Chien-Nan Lee PMCID: PMC2442058 Genetic and biochemical studies in Argentinean patients with variegate porphyria María V Rossetti, Bárbara X Granata, Jimena Giudice, Victoria E Parera, and Alcira Batlle PMCID: PMC2467414 Association between LRP5 polymorphism and bone mineral density: a Bayesian meta-analysis Bich NH Tran, Nguyen D Nguyen, John A Eisman, and Tuan V Nguyen PMCID: PMC2459152 Linkage disequilibrium mapping of a breast cancer susceptibility locus near RAI/PPP1R13L/iASPP Bjørn A Nexø, Ulla Vogel, Anja Olsen, Mette Nyegaard, Zuzanna Bukowy, Eszter Rockenbauer, Xiuqing Zhang, Cemile Koca, Mette Mains, Bettina Hansen, Anne Hedemand, Anette Kjeldgaard, Magdalena J Laska, Ole Raaschou-Nielsen, Søren Cold, Kim Overvad, Anne Tjønneland, Lars Bolund, and Anders D Børglum PMCID: PMC2474586 Mitochondrial haplogroup H1 is protective for ischemic stroke in Portuguese patients Alexandra Rosa, Benedita V Fonseca, Tiago Krug, Helena Manso, Liliana Gouveia, Isabel Albergaria, Gisela Gaspar, Manuel Correia, Miguel Viana-Baptista, Rita Moiron Simões, Amélia Nogueira Pinto, Ricardo Taipa, Carla Ferreira, João Ramalho Fontes, Mário Rui Silva, João Paulo Gabriel, Ilda Matos, Gabriela Lopes, José M Ferro, Astrid M Vicente, and Sofia A Oliveira PMCID: PMC2492853 Novel de novo BRCA2 mutation in a patient with a family history of breast cancer Thomas V O Hansen, Marie Luise Bisgaard, Lars Jønson, Anders Albrechtsen, Bettina Filtenborg-Barnkob, Hans Eiberg, Bent Ejlertsen, and Finn C Nielsen PMCID: PMC2478678 Impact of nine common type 2 diabetes risk polymorphisms in Asian Indian Sikhs: PPARG2 (Pro12Ala), IGF2BP2, TCF7L2 and FTO variants confer a significant risk Dharambir K Sanghera, Lyda Ortega, Shizhong Han, Jairup Singh, Sarju K Ralhan, Gurpreet S Wander, Narinder K Mehra, John J Mulvihill, Robert E Ferrell, Swapan K Nath, and Mohammed I Kamboh PMCID: PMC2481250 Analytical approaches to detect maternal/fetal genotype incompatibilities that increase risk of pre-eclampsia Neeta Parimi, Gerard Tromp, Helena Kuivaniemi, Jyh Kae Nien, Ricardo Gomez, Roberto Romero, and Katrina AB Goddard PMCID: PMC2474585 Polymorphisms of selected Xenobiotic Genes contribute to the development of Papillary Thyroid Cancer susceptibility in Middle Eastern population Abdul K Siraj, Muna Ibrahim, Maha Al-Rasheed, Jehad Abubaker, Rong Bu, Shakaib U Siddiqui, Fouad Al-Dayel, Osama Al-Sanea, Abdulrahman Al-Nuaim, Shahab Uddin, and Khawla Al-Kuraya PMCID: PMC2492854 Detection of Catalase as a major protein target of the lipid peroxidation product 4-HNE and the lack of its genetic association as a risk factor in SLE Anil D'souza, Biji T Kurien, Rosalie Rodgers, Jaideep Shenoi, Sadamu Kurono, Hiroyuki Matsumoto, Kenneth Hensley, Swapan K Nath, and R Hal Scofield PMCID: PMC2474584 Methylation of class II transactivator gene promoter IV is not associated with susceptibility to Multiple Sclerosis Sreeram V Ramagopalan, David A Dyment, Katie M Morrison, Blanca M Herrera, Gabriele C DeLuca, Matthew R Lincoln, Sarah M Orton, Lahiru Handunnetthi, Michael J Chao, A Dessa Sadovnick, and George C Ebers PMCID: PMC2464579 Insulin gene polymorphisms in type 1 diabetes, Addison's disease and the polyglandular autoimmune syndrome type II Elizabeth Ramos-Lopez, Britta Lange, Heinrich Kahles, Holger S Willenberg, Gesine Meyer, Marissa Penna-Martinez, Nicole Reisch, Stefanie Hahner, Jürgen Seissler, and Klaus Badenhoop PMCID: PMC2474835 Investigation of 89 candidate gene variants for effects on all-cause mortality following acute coronary syndrome Thomas M Morgan, Lan Xiao, Patrick Lyons, Bethany Kassebaum, Harlan M Krumholz, and John A Spertus PMCID: PMC2483267 Nicotinic acetylcholine receptor subunit variants are associated with blood pressure; findings in the Old Order Amish and replication in the Framingham Heart Study Patrick F McArdle, Sue Rutherford, Braxton D Mitchell, Coleen M Damcott, Ying Wang, Vasan Ramachandran, Sandy Ott, Yen-Pei C Chang, Daniel Levy, and Nanette Steinle PMCID: PMC2478679 Dinucleotide repeat polymorphism in Fms-like tyrosine kinase-1 (Flt-1) gene is not associated with preeclampsia Shin-Young Kim, Ji-Hyae Lim, Jae-Hyug Yang, Moon-Young Kim, Jung-Yeol Han, Hyun-Kyong Ahn, Jun-Seek Choi, So-Yeon Park, Mi-Jin Kim, and Hyun-Mee Ryu PMCID: PMC2496902 Analysis of variants in DNA damage signalling genes in bladder cancer Ananya Choudhury, Faye Elliott, Mark M Iles, Michael Churchman, Robert G Bristow, D Timothy Bishop, and Anne E Kiltie PMCID: PMC2488326 Effects of common haplotypes of the ileal sodium dependent bile acid transporter gene on the development of sporadic and familial colorectal cancer: A case control study Frank Grünhage, Matthias Jungck, Christoph Lamberti, Hildegard Keppeler, Ursula Becker, Hildegard Schulte-Witte, Dominik Plassmann, Nicolaus Friedrichs, Reinhard Buettner, Stefan Aretz, Tilman Sauerbruch, and Frank Lammert PMCID: PMC2492852 Autosomal dominant hereditary spastic paraplegia: Novel mutations in the REEP1 gene (SPG31) Katharina J Schlang, Larissa Arning, Joerg T Epplen, and Susanne Stemmler PMCID: PMC2492855 Weak or no association of TCF7L2 variants with Type 2 diabetes risk in an Arab population Osama Alsmadi, Khalid Al-Rubeaan, Gamal Mohamed, Fadi Alkayal, Haya Al-Saud, Nouran Abu Al-Saud, Nasser Al-Daghri, Shahinaz Mohammad, and Brian F Meyer PMCID: PMC2515290 The value of some Corsican sub-populations for genetic association studies Veronica Latini, Gabriella Sole, Laurent Varesi, Giuseppe Vona, and Maria Serafina Ristaldi PMCID: PMC2518545 R497K polymorphism in epidermal growth factor receptor gene is associated with the risk of acute coronary syndrome Lin-Bo Gao, Bin Zhou, Lin Zhang, Ye-Sheng Wei, Yan-Yun Wang, Wei-Bo Liang, Mei-Li Lv, Xin-Min Pan, Yu-Cheng Chen, and Li Rao PMCID: PMC2515827 Mutation study of Spanish patients with Hereditary Hemorrhagic Telangiectasia Ana Fontalba, Africa Fernandez-L, Eva García-Alegria, Virginia Albiñana, Eva M Garrido-Martin, Francisco J Blanco, Roberto Zarrabeitia, Alfonso Perez-Molino, Maria E Bernabeu-Herrero, Maria-Luisa Ojeda, Jose L Fernandez-Luna, Carmelo Bernabeu, and Luisa M Botella PMCID: PMC2518546 Lack of association between serotonin transporter gene polymorphism 5-HTTLPR and smoking among Polish population: a case-control study Alicja Sieminska, Krzysztof Buczkowski, Ewa Jassem, and Ewa Tkacz PMCID: PMC2529278 Linkage study of fibrinogen levels: the Strong Heart Family Study Lyle G Best, Kari E North, Xia Li, Vittorio Palmieri, Jason G Umans, Jean MacCluer, Sandy Laston, Karin Haack, Harald Goring, Vincent P Diego, Laura Almasy, Elisa T Lee, Russell P Tracy, and Shelley Cole PMCID: PMC2518547 Methionine synthase A2756G polymorphism may predict ulcerative colitis and methylenetetrahydrofolate reductase C677T pancolitis, in Central China Min Chen, Laurent Peyrin-Biroulet, Bing Xia, Rosa-Maria Guéant-Rodriguez, Jean-Pierre Bronowicki, Marc-André Bigard, and Jean-Louis Guéant PMCID: PMC2533647 Association of narcolepsy-cataplexy with HLA-DRB1 and DQB1 in Mexican patients: A relationship between HLA and gender is suggested Carmen Alaez, Ling Lin, Hilario Flores-A, Miriam Vazquez, Andrea Munguia, Emmanuel Mignot, Reyes Haro, Harry Baker, and Clara Gorodezky PMCID: PMC2533302 TCF7L2 gene polymorphisms do not predict susceptibility to diabetes in tropical calcific pancreatitis but may interact with SPINK1 and CTSB mutations in predicting diabetes Swapna Mahurkar, Seema Bhaskar, D Nageshwar Reddy, Swami Prakash, G Venkat Rao, Shivaram Prasad Singh, Varghese Thomas, and Giriraj Ratan Chandak PMCID: PMC2529279 Lack of evidence for association of primary sclerosing cholangitis and primary biliary cirrhosis with risk alleles for Crohn's disease in Polish patients Pawel Gaj, Andrzej Habior, Michal Mikula, and Jerzy Ostrowski PMCID: PMC2535589 Association of ADAM33 gene polymorphisms with adult allergic asthma and rhinitis in a Chinese Han population Dongju Su, Ximei Zhang, Hong Sui, Fuzhen Lü, Lianhong Jin, and Jing Zhang PMCID: PMC2553063 Five recurrent BRCA1/2 mutations are responsible for cancer predisposition in the majority of Slovenian breast cancer families Mateja Krajc, Erik Teugels, Janez Zgajnar, Guido Goelen, Nikola Besic, Srdjan Novakovic, Marko Hocevar, and Jacques De Grève PMCID: PMC2547096 The APOA5 Trp19 allele is associated with metabolic syndrome via its association with plasma triglycerides Jean Dallongeville, Dominique Cottel, Aline Wagner, Pierre Ducimetière, Jean-Bernard Ruidavets, Dominique Arveiler, Annie Bingham, Jean Ferrières, Philippe Amouyel, and Aline Meirhaeghe PMCID: PMC2551592 'Fat mass and obesity associated' gene (FTO): No significant association of variant rs9939609 with weight loss in a lifestyle intervention and lipid metabolism markers in German obese children and adolescents Timo D Müller, Anke Hinney, André Scherag, Thuy T Nguyen, Felix Schreiner, Helmut Schäfer, Johannes Hebebrand, Christian L Roth, and Thomas Reinehr PMCID: PMC2553771 Prevalence of variations in melanoma susceptibility genes among Slovenian melanoma families Barbara Peric, Petra Cerkovnik, Srdjan Novakovic, Janez Zgajnar, Nikola Besic, and Marko Hocevar PMCID: PMC2556318 Protective effect of KCNH2 single nucleotide polymorphism K897T in LQTS families and identification of novel KCNQ1 and KCNH2 mutations Xianqin Zhang, Shenghan Chen, Li Zhang, Mugen Liu, Sharon Redfearn, Randall M Bryant, Carlos Oberti, G Michael Vincent, and Qing K Wang PMCID: PMC2570672 Functional analysis of the novel TBX5 c.1333delC mutation resulting in an extended TBX5 protein Johann Böhm, Wolfram Heinritz, Alexander Craig, Mihailo Vujic, Britt-Marie Ekman-Joelsson, Jürgen Kohlhase, and Ursula Froster PMCID: PMC2567295 Diabetes-specific genetic effects on obesity traits in American Indian populations: the Strong Heart Family Study Nora Franceschini, Laura Almasy, Jean W MacCluer, Harald HH Göring, Shelley A Cole, Vincent P Diego, Sandra Laston, Barbara V Howard, Elisa T Lee, Lyle G Best, Richard R Fabsitz, and Kari E North PMCID: PMC2572048 Lack of association between the CALM1 core promoter polymorphism (-16C/T) and susceptibility to knee osteoarthritis in a Chinese Han population Dongquan Shi, Haijian Ni, Jin Dai, Jianghui Qin, Yong Xu, Lunqing Zhu, Chen Yao, Zhenxing Shao, Dongyang Chen, Zhihong Xu, Long Yi, Shiro Ikegawa, and Qing Jiang PMCID: PMC2576056 Extending the spectrum of Ellis van Creveld syndrome: a large family with a mild mutation in the EVC gene Hakan Ulucan, Davut Gül, Julie C Sapp, John Cockerham, Jennifer J Johnston, and Leslie G Biesecker PMCID: PMC2584628 Multiple interactions between the alpha2C- and beta1-adrenergic receptors influence heart failure survival Sharon LR Kardia, Reagan J Kelly, Mehdi A Keddache, Bruce J Aronow, Gregory A Grabowski, Harvey S Hahn, Karen L Case, Lynne E Wagoner, Gerald W Dorn, II, and Stephen B Liggett PMCID: PMC2588439 Significant association of SREBP-2 genetic polymorphisms with avascular necrosis in the Korean population Tae-Ho Kim, Jeong-In Baek, Jung Min Hong, Su-Jin Choi, Hye-Jin Lee, Hyun-Ju Cho, Eui Kyun Park, Un-Kyung Kim, and Shin-Yoon Kim PMCID: PMC2600781 Adverse events in families with hypertrophic or dilated cardiomyopathy and mutations in the MYBPC3 gene Philipp Ehlermann, Dieter Weichenhan, Jörg Zehelein, Henning Steen, Regina Pribe, Raphael Zeller, Stephanie Lehrke, Christian Zugck, Boris T Ivandic, and Hugo A Katus PMCID: PMC2584029 Non-synonymous sequence variants within the oxygen-dependent degradation domain of the HIF1A gene are not associated with pre-eclampsia in the Finnish population Sanna Heino, Milja Kaare, Sture Andersson, and Hannele Laivuori PMCID: PMC2600634 Birth weight and blood lipid levels in Spanish adolescents: Influence of selected APOE, APOC3 and PPARgamma2 gene polymorphisms. The AVENA Study Jonatan R Ruiz, Idoia Labayen, Francisco B Ortega, Luis A Moreno, Domingo González-Lamuño, Amelia Martí, Esther Nova, Miguel García Fuentes, Carlos Redondo-Figuero, J Alfredo Martínez, Michael Sjöström, Manuel J Castillo, and the AVENA Study Group PMCID: PMC2615435 A novel HSF4 gene mutation (p.R405X) causing autosomal recessive congenital cataracts in a large consanguineous family from Pakistan Naheed Sajjad, Ingrid Goebel, Naseebullah Kakar, Abdul Majeed Cheema, Christian Kubisch, and Jamil Ahmad PMCID: PMC2592245 SIRT1 genetic variants associate with the metabolic response of Caucasians to a controlled lifestyle intervention – the TULIP Study Peter Weyrich, Fausto Machicao, Julia Reinhardt, Jürgen Machann, Fritz Schick, Otto Tschritter, Norbert Stefan, Andreas Fritsche, and Hans-Ulrich Häring PMCID: PMC2626584 Broad phenotypic spectrum in familial adenomatous polyposis; from early onset and severe phenotypes to late onset of attenuated polyposis with the first manifestation at age 72 Mef Nilbert, Ulf Kristoffersson, Mats Ericsson, Oskar Johannsson, Eva Rambech, and Peter Mangell PMCID: PMC2610029 A novel insertion mutation in the cartilage-derived morphogenetic protein-1 (CDMP1) gene underlies Grebe-type chondrodysplasia in a consanguineous Pakistani family Sulman Basit, Syed Kamran-ul-Hassan Naqvi, Naveed Wasif, Ghazanfar Ali, Muhammad Ansar, and Wasim Ahmad PMCID: PMC2611973 QTLs of factors of the metabolic syndrome and echocardiographic phenotypes: the hypertension genetic epidemiology network study Aldi T Kraja, Pinchia Huang, Weihong Tang, Steven C Hunt, Kari E North, Cora E Lewis, Richard B Devereux, Giovanni de Simone, Donna K Arnett, Treva Rice, and DC Rao PMCID: PMC2626585 Human genetic selection on the MTHFR 677C>T polymorphism Álvaro Mayor-Olea, Gonzalo Callejón, Arturo R Palomares, Ana J Jiménez, María Jesús Gaitán, Alfonso Rodríguez, Maximiliano Ruiz, and Armando Reyes-Engel PMCID: PMC2610030 Assessment of the feasibility of exon 45–55 multiexon skipping for duchenne muscular dystrophy Laura van Vliet, Christa L de Winter, Judith CT van Deutekom, Gert-Jan B van Ommen, and Annemieke Aartsma-Rus PMCID: PMC2611974 Genomic NGFB variation and multiple sclerosis in a case control study Denis A Akkad, Niels Kruse, Larissa Arning, Ralf Gold, and Jörg T Epplen PMCID: PMC2613874 Investigation of Gamma-aminobutyric acid (GABA) A receptors genes and migraine susceptibility Francesca Fernandez, Teresa Esposito, Rod A Lea, Natalie J Colson, Alfredo Ciccodicola, Fernando Gianfrancesco, and Lyn R Griffiths PMCID: PMC2615754 Genetic polymorphisms are associated with serum levels of sex hormone binding globulin in postmenopausal women José A Riancho, Carmen Valero, María T Zarrabeitia, María T García-Unzueta, José A Amado, and Jesús González-Macías PMCID: PMC2615755 An intronic alteration of the fibroblast growth factor 10 gene causing ALSG-(aplasia of lacrimal and salivary glands) syndrome Kathrin Scheckenbach, Vera Balz, Martin Wagenmann, and Thomas K Hoffmann PMCID: PMC2626586 |
