Ausgabe 1/2009
Inhalt (149 Artikel)
Multiple splice defects in ABCA1cause low HDL-C in a family with Hypoalphalipoproteinemia and premature coronary disease
Jeffrey Rhyne, Myrna M Mantaring, David F Gardner, Michael Miller
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, Greetje de Jong
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
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, Simin Liu
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, Peter Garred
An Open Access Database of Genome-wide Association Results
Andrew D Johnson, Christopher J O'Donnell
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, Thomas Bourgeron
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, Päivi Saavalainen
SLC6A3and 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, Neil E Caporaso
An extension to a statistical approach for family based association studies provides insights into genetic risk factors for multiple sclerosis in the HLA-DRB1gene
Sreeram V Ramagopalan, Roisin McMahon, David A Dyment, A Dessa Sadovnick, George C Ebers, Knut M Wittkowski
DNA instability in replicating Huntington's disease lymphoblasts
Milena Cannella, Vittorio Maglione, Tiziana Martino, Giuseppe Ragona, Luigi Frati, Guo-Min Li, Ferdinando Squitieri
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, Heikki Swan
Evaluating the association of common APOA2variants with type 2 diabetes
Konsta Duesing, Guillaume Charpentier, Michel Marre, Jean Tichet, Serge Hercberg, Beverley Balkau, Philippe Froguel, Fernando Gibson
Non-replication of an association of CTNNBL1polymorphisms 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, Anke Hinney
Association between TCF7L2gene 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, Ben Zhang
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, Chi-Jung Huang
Studies of CTNNBL1 and FDFT1variants 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, Torben Hansen
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, Ulla Vogel
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, Anke Hinney
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, Bjørn A Nexø
FTOgene 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, Andrew M Prentice
Contrasting genetic association of IL2RAwith 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, Kenneth GC Smith
IL6 and CRPhaplotypes 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, Emiel FM Wouters
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, Mark S LeDoux
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, Emanuele Miraglia del Giudice
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, Wei Huang
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, Knut R Steffensen
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, Enitan D Carrol
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, Junghan Song
Knowledge about hereditary nonpolyposis colorectal cancer; mutation carriers and physicians at equal levels
Katarina Domanska, Christina Carlsson, Pär-Ola Bendahl, Mef Nilbert
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, Yongyong Shi
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, Yong-Sun Kim
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, Martine Vaxillaire
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, Marjan M Weiss
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, Wolfgang Sperl
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, Michael M Hoffmann
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, Bongani M Mayosi
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
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, Donna K Arnett
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, Donna K Arnett
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, Domenico Girelli
Mosaicism for combined tetrasomy of chromosomes 8 and 18 in a dysmorphic child: A result of failed tetraploidy correction?
Gunnar Houge, Helle Lybæk, Sasha Gulati
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, Ulrich Broeckel
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, David-Alexandre Tregouet
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, Ning Wang
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, Wolfgang Koenig
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, Lin Zhang
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, Pablo Lapunzina
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, Richard H Finnell
ACE (I/D) polymorphism and response to treatment in coronary artery disease: a comprehensive database and meta-analysis involving study quality evaluation
Georgios Kitsios, Elias Zintzaras
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, Etienne Mornet
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, Kim Overvad
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
Haneen Sadick, Johanna Hage, Ulrich Goessler, Jens Stern-Straeter, Frank Riedel, Karl Hoermann, Peter Bugert
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, Ian Tomlinson
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, Adrian VS Hill
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, Eric Boerwinkle
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, Clara Ruiz-Ponte
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, James West
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, Yaoqin Gong
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, Dan Mishmar
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, Dai Zhang
Lack of association of TIM3polymorphisms and allergic phenotypes
Jian Zhang, Denise Daley, Loubna Akhabir, Dorota Stefanowicz, Moira Chan-Yeung, Allan B Becker, Catherine Laprise, Peter D Paré, Andrew J Sandford
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, Janis Klovins
Association between ACEgene 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, Yong Wang
Low frequency of the TIRAPS180L 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, Ralf R Schumann
Absence of association between SERPINE2genetic polymorphisms and chronic obstructive pulmonary disease in Han Chinese: a case-control cohort study
Li Zhong, Wei-Ping Fu, Chang Sun, Lu-Ming Dai, Ya-Ping Zhang
Type 2 diabetes gene TCF7L2polymorphism 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, Vincent WV Jaddoe
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, Onofre Combarros
Mutations in STK11gene in Czech Peutz-Jeghers patients
Peter Vasovčák, Alena Puchmajerová, Jan Roubalík, Anna Křepelová
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, Thierry Letellier
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, Qiji Liu
A new CYP21A1P/CYP21A2chimeric 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, Ettore Capoluongo
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, Dongfeng Gu
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, Ralph L Sacco
Constitutive RB1 mutation in a child conceived by in vitrofertilization: implications for genetic counseling
Raquel H Barbosa, Fernando R Vargas, Evandro Lucena, Cibele R Bonvicino, Héctor N Seuánez
A mutation in CTSK gene in an autosomal recessive pycnodysostosis family of Pakistani origin
Muhammad Naeem, Sabeen Sheikh, Wasim Ahmad
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, Hans-Ulrich Häring
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, Milada Kohoutova
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, Maria Sasvari-Szekely
Rapid detection of the CYP2A6*12 hybrid allele by Pyrosequencing®technology
Deborah A Koontz, Jacqueline J Huckins, Antonina Spencer, Margaret L Gallagher
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, Andrea Angius
Frequency of single nucleotide polymorphisms in NOD1gene of ulcerative colitis patients: a case-control study in the Indian population
Ravi Verma, Vineet Ahuja, Jaishree Paul
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, M Ann Kelly
A MANBAmutation 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, Thierry Levade
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, Daniel E Weeks
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, Shuanglin Zhang
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, Christine Zühlke
Identification of a region required for TSC1 stability by functional analysis of TSC1missense 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, Mark Nellist
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, Frank Speleman
HECTD2, a candidate susceptibility gene for Alzheimer's disease on 10q
Sarah E Lloyd, Martin Rossor, Nick Fox, Simon Mead, John Collinge
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, Nicole Weisschuh
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, Ewa Tkacz
Locations and patterns of meiotic recombination in two-generation pedigrees
Jason C Ting, Elisha DO Roberson, Duane G Currier, Jonathan Pevsner
Variation in the UCP2 and UCP3genes 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, Matti Uusitupa
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, Alfons Macaya
Association analyses of the INSIG2polymorphism 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, Jong Yeol Kim
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, Eric Legius
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
Genetic association study of selected candidate genes (ApoB, LPL, Leptin) and telomere length in obese and hypertensive individuals
Birajalaxmi Das, Nilambari Pawar, Divyalakshmi Saini, M Seshadri
Analysis of TACI mutations in CVID & RESPI patients who have inherited HLA B*44 or HLA*B8
Manda L Waldrep, Yingxin Zhuang, Harry W Schroeder Jr
Do the mutations of C1GALT1C1gene play important roles in the genetic susceptibility to Chinese IgA nephropathy?
Gui-Sen Li, Guang-Jun Nie, Hong Zhang, Ji-Cheng LV, Yan Shen, Hai-Yan Wang
Autism genetic database (AGD): a comprehensive database including autism susceptibility gene-CNVs integrated with known noncoding RNAs and fragile sites
Gregory Matuszek, Zohreh Talebizadeh
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, Kathy J Helzlsouer
The role of CACNA1Sin predisposition to malignant hyperthermia
Danielle Carpenter, Christopher Ringrose, Vincenzo Leo, Andrew Morris, Rachel L Robinson, P Jane Halsall, Philip M Hopkins, Marie-Anne Shaw
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, Soraya Bardien
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, Choon-Sik Park
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, Stephen T McGarvey
Association of APOEpolymorphism 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, Wen Hong L Kao
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, Martin Petrek
Telomere shortening may be associated with human keloids
Bruna De Felice, Robert R Wilson, Massimo Nacca
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, AJ Marian
PLAURpolymorphisms 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, Ian Sayers
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, José Xavier-Neto
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, Wang Shiwen
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, Cezary Żekanowski
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, Hamoud Al-Mousa
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, Angela R Brooks-Wilson
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, Dongfeng Gu
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, Salud Borrego
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, Attila Molvarec
Confirmation of the genetic association of CTLA4 and PTPN22 with ANCA-associated vasculitis
Edward J Carr, Heather A Niederer, Julie Williams, Lorraine Harper, Richard A Watts, Paul A Lyons, Kenneth GC Smith
Further analysis of previously implicated linkage regions for Alzheimer's disease in affected relative pairs
Elin S Blom, Vilmantas Giedraitis, Sampath Arepalli, Marian L Hamshere, Omanma Adighibe, Alison Goate, Julie Williams, Lars Lannfelt, John Hardy, Fabienne Wavrant-De Vrièze, Anna Glaser
Analyses of associations between three positionally cloned asthma candidate genes and asthma or asthma-related phenotypes in a Chinese population
Huanyu Zhou, Xiumei Hong, Shanqun Jiang, Hongxing Dong, Xiping Xu, Xin Xu
Characterisation of CYP2C8, CYP2C9 and CYP2C19 polymorphisms in a Ghanaian population
William Kudzi, Alexander NO Dodoo, Jeremy J Mills
Association of vitamin D receptor polymorphisms with the risk of prostate cancer in the Han population of Southern China
Yongheng Bai, Yaping Yu, Bin Yu, Jianrong Ge, Jingzhang Ji, Hong Lu, Jia Wei, Zhiliang Weng, Zhihua Tao, Jianxin Lu
The rs1990760 polymorphism within the IFIH1 locus is not associated with Graves' disease, Hashimoto's thyroiditis and Addison's disease
Marissa Penna-Martinez, Elizabeth Ramos-Lopez, Inka Robbers, Heinrich Kahles, Stefanie Hahner, Holger Willenberg, Nicole Reisch, Christian Seidl, Maria Segni, Klaus Badenhoop
Power of multifactor dimensionality reduction and penalized logistic regression for detecting gene-gene Interaction in a case-control study
Hua He, William S Oetting, Marcia J Brott, Saonli Basu
A pooling-based genome-wide analysis identifies new potential candidate genes for atopy in the European Community Respiratory Health Survey (ECRHS)
Francesc Castro-Giner, Mariona Bustamante, Juan Ramon González, Manolis Kogevinas, Deborah Jarvis, Joachim Heinrich, Josep-Maria Antó, Matthias Wjst, Xavier Estivill, Rafael de Cid
DYRK1A genetic variants are not linked to Alzheimer's disease in a Spanish case-control cohort
José Luis Vázquez-Higuera, Pascual Sánchez-Juan, Eloy Rodríguez-Rodríguez, Ignacio Mateo, Ana Pozueta, Ana Frank, Isabel Sastre, Fernando Valdivieso, José Berciano, María J Bullido, Onofre Combarros
Genetic variation of NEDD4L is associated with essential hypertension in female Kazakh general population: a case-control study
Nanfang Li, Hongmei Wang, Jin Yang, Ling Zhou, Jing Hong, Yanying Guo, Wenli Luo, Jianhang Chang
The common FTOvariant rs9939609 is not associated with BMI in a longitudinal study on a cohort of Swedish men born 1920-1924
Josefin A Jacobsson, Ulf Risérus, Tomas Axelsson, Lars Lannfelt, Helgi B Schiöth, Robert Fredriksson
Association of ADAM33 gene polymorphisms with COPD in a northeastern Chinese population
Xinyan Wang, Lei Li, Jinling Xiao, Chengzhen Jin, Kun Huang, Xiaowen Kang, Xiaomei Wu, Fuzhen Lv
Evidence for an association of HLA-DRB1*15 and DRB1*09 with leprosy and the impact of DRB1*09 on disease onset in a Chinese Han population
Furen Zhang, Hong Liu, Shumin Chen, Changyuan Wang, Chuanfu Zhu, Lin Zhang, Tongsheng Chu, Dianchang Liu, Xiaoxiao Yan, Jianjun Liu
The neck-region polymorphism of DC-SIGNR in peri-centenarian from Han Chinese Population
Hui Li, Cheng-Ye Wang, Jia-Xin Wang, Nelson Leung-Sang Tang, Liang Xie, Yuan-Ying Gong, Zhao Yang, Liang-You Xu, Qing-Peng Kong, Ya-Ping Zhang
STK39 polymorphisms and blood pressure: an association study in British Caucasians and assessment of cis-acting influences on gene expression
Michael S Cunnington, Chris Kay, Peter J Avery, Bongani M Mayosi, Mauro Santibanez Koref, Bernard Keavney
Reduced transcription of TCOF1 in adult cells of Treacher Collins syndrome patients
Cibele Masotti, Camila C Ornelas, Alessandra Splendore-Gordonos, Ricardo Moura, Têmis M Félix, Nivaldo Alonso, Anamaria A Camargo, Maria Rita Passos-Bueno
Association of a de novo16q copy number variant with a phenotype that overlaps with Lenz microphthalmia and Townes-Brocks syndromes
Tanya M Bardakjian, Adele S Schneider, David Ng, Jennifer J Johnston, Leslie G Biesecker
Innate immunity in ocular Chlamydia trachomatis infection: contribution of IL8 and CSF2 gene variants to risk of trachomatous scarring in Gambians
Angels Natividad, Jeremy Hull, Gaia Luoni, Martin Holland, Kirk Rockett, Hassan Joof, Matthew Burton, David Mabey, Dominic Kwiatkowski, Robin Bailey
Association between CYP19 gene SNP rs2414096 Polymorphism and polycystic ovary syndrome in Chinese women
Jia-Li Jin, Jing Sun, Hui-Juan Ge, Yun-Xia Cao, Xiao-Ke Wu, Feng-Jing Liang, Hai-Xiang Sun, Lu Ke, Long Yi, Zhi-Wei Wu, Yong Wang
Melusin gene (ITGB1BP2) nucleotide variations study in hypertensive and cardiopathic patients
Valeria Palumbo, Ludovica Segat, Lara Padovan, Antonio Amoroso, Bruno Trimarco, Raffaele Izzo, Giuseppe Lembo, Vera Regitz–Zagrosek, Ralph Knoll, Mara Brancaccio, Guido Tarone, Sergio Crovella
Association of a functional microsatellite within intron 1 of the BMP5 gene with susceptibility to osteoarthritis
James M Wilkins, Lorraine Southam, Zehra Mustafa, Kay Chapman, John Loughlin
Use of supplementary phenotype to identify additional rheumatoid arthritis loci in a linkage analysis of 342 UK affected sibling pair families
Bamidele O Tayo, Yulan Liang, Arpad Kelemen, Austin Miller, Maurizio Trevisan, Richard S Cooper
A tagging SNP in INSIG2 is associated with obesity-related phenotypes among Samoans
Ranjan Deka, Ling Xu, Prodipto Pal, Palanitina T Toelupe, Tuiasina S Laumoli, Huifeng Xi, Ge Zhang, Daniel E Weeks, Stephen T McGarvey
BAC array CGH in patients with Velocardiofacial syndrome-like features reveals genomic aberrations on chromosome region 1q21.1
Anna Brunet, Lluís Armengol, Damià Heine, Jordi Rosell, Manel García-Aragonés, Elisabeth Gabau, Xavier Estivill, Miriam Guitart
PLCL1 rs7595412 variation is not associated with hip bone size variation in postmenopausal Danish women
Stéphane Cauchi, Inger Byrjalsen, Emmanuelle Durand, Morten A Karsdal, Philippe Froguel
PRNP variation in UK sporadic and variant Creutzfeldt Jakob disease highlights genetic risk factors and a novel non-synonymous polymorphism
Matthew T Bishop, Catherine Pennington, Craig A Heath, Robert G Will, Richard SG Knight
Association of DRD4 uVNTR and TP53 codon 72 polymorphisms with schizophrenia: a case-control study
For-Wey Lung, Bih-Ching Shu, Wei-Tsung Kao, C Nathan Chen, Yu-Chi Ku, Dong-Sheng Tzeng
Evaluating NAT2PRED for inferring the individual acetylation status from unphased genotype data
Audrey Sabbagh, Pierre Darlu, Michel Vidaud
Differentially expressed alternatively spliced genes in Malignant Pleural Mesothelioma identified using massively parallel transcriptome sequencing
Lingsheng Dong, Roderick V Jensen, Assunta De Rienzo, Gavin J Gordon, Yanlong Xu, David J Sugarbaker, Raphael Bueno