Issue 1/2008
Content (120 Articles)
C4B null alleles are not associated with genetic polymorphisms in the adjacent gene CYP21A2in autism
Thayne L Sweeten, Daniel W Odell, J Dennis Odell, Anthony R Torres
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, Maria Soller
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, Francesco Cucca
FTO gene SNPs associated with extreme obesity in cases, controls and extremely discordant sister pairs
R Arlen Price, Wei-Dong Li, Hongyu Zhao
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, Janey L Wiggs
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, Martin Schalling
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, Catherine D O'Connell
Common variants of the TCF7L2gene 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, M Ann Kelly
Association between variations in the TLR4gene 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, Thomas Illig
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, Dicky Halley
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, David J Picketts
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, Robert Plomin
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, Giuseppe Matullo
Evaluating the association of common PBX1variants with type 2 diabetes
Konsta Duesing, Guillaume Charpentier, Michel Marre, Jean Tichet, Serge Hercberg, Beverley Balkau, Philippe Froguel, Fernando Gibson
Genetic variability of histamine receptors in patients with Parkinson's disease
Elena García-Martín, P Ayuso, Antonio Luengo, Carmen Martínez, José AG Agúndez
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, Steven C Elbein
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, Robert NS Heard, Graeme J Stewart, John D Pollard, David R Booth
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
Genetic association study of synphilin-1in idiopathic Parkinson's disease
Ronny Myhre, Helge Klungland, Matthew J Farrer, Jan O Aasly
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, Ian PM Tomlinson
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, Martin Desrosiers
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, Mitsuo Itakura
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, Thomas Quertermous
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, Qing Kenneth Wang
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, Maris Laan
Minisequencing mitochondrial DNA pathogenic mutations
Vanesa Álvarez-Iglesias, Francisco Barros, Ángel Carracedo, Antonio Salas
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, Luis A Pérez-Jurado
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, Kyproula Christodoulou
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, Karoly Racz
Gene polymorphisms of superoxide dismutases and catalase in diabetes mellitus
Milan Flekac, Jan Skrha, Jirina Hilgertova, Zdena Lacinova, Marcela Jarolimkova
Cathepsin D SNP associated with increased risk of variant Creutzfeldt-Jakob disease
Matthew T Bishop, Gabor G Kovacs, Pascual Sanchez-Juan, Richard SG Knight
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, José E Krieger
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, Simon G Gregory
Association of limbic system-associated membrane protein (LSAMP) to male completed suicide
Anne Must, Gunnar Tasa, Aavo Lang, Eero Vasar, Sulev Kõks, Eduard Maron, Marika Väli
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, Kirk C Wilhelmsen
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, Tjerk WA de Bruin
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, Craig S Atwood
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, Kenneth MC Cheung
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, Thomas Werge
Distribution of the FYB ES 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, Amelia L Racca
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, Thierry Letellier
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, Emiko Noguchi
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
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, Jong-Rak Choi
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, David Meyre
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, Richard H Myers
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, Harvest F Gu
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, Valerie A Street
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, Caroline S Fox
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, Zosia Miedzybrodzka
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, Margaret M DeAngelis
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, Torben F Ørntoft
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, Chien-Nan Lee
Genetic and biochemical studies in Argentinean patients with variegate porphyria
María V Rossetti, Bárbara X Granata, Jimena Giudice, Victoria E Parera, Alcira Batlle
Association between LRP5 polymorphism and bone mineral density: a Bayesian meta-analysis
Bich NH Tran, Nguyen D Nguyen, John A Eisman, Tuan V Nguyen
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, Anders D Børglum
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, Sofia A Oliveira
Novel de novo BRCA2mutation 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, Finn C Nielsen
Impact of nine common type 2 diabetes risk polymorphisms in Asian Indian Sikhs: PPARG2 (Pro12Ala), IGF2BP2, TCF7L2 and FTOvariants 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, Mohammed I Kamboh
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, Katrina AB Goddard
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, Khawla Al-Kuraya
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, R Hal Scofield
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, George C Ebers
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, Duncan C Thomas
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, Klaus Badenhoop
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, John A Spertus
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, Nanette Steinle
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, Hyun-Mee Ryu
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, Anne E Kiltie
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, Frank Lammert
Autosomal dominant hereditary spastic paraplegia: Novel mutations in the REEP1 gene (SPG31)
Katharina J Schlang, Larissa Arning, Joerg T Epplen, Susanne Stemmler
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, Brian F Meyer
The value of some Corsican sub-populations for genetic association studies
Veronica Latini, Gabriella Sole, Laurent Varesi, Giuseppe Vona, Maria Serafina Ristaldi
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, Li Rao
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, Luisa M Botella
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, Ewa Tkacz
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, Shelley Cole
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, Jean-Louis Guéant
Association of narcolepsy-cataplexy with HLA-DRB1 and DQB1in 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, Clara Gorodezky
TCF7L2 gene polymorphisms do not predict susceptibility to diabetes in tropical calcific pancreatitis but may interact with SPINK1 and CTSBmutations in predicting diabetes
Swapna Mahurkar, Seema Bhaskar, D Nageshwar Reddy, Swami Prakash, G Venkat Rao, Shivaram Prasad Singh, Varghese Thomas, Giriraj Ratan Chandak
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, Jerzy Ostrowski
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, Jing Zhang
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, Jacques De Grève
The APOA5Trp19 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, Aline Meirhaeghe
'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, Thomas Reinehr
Prevalence of variations in melanoma susceptibility genes among Slovenian melanoma families
Barbara Peric, Petra Cerkovnik, Srdjan Novakovic, Janez Zgajnar, Nikola Besic, Marko Hocevar
Protective effect of KCNH2 single nucleotide polymorphism K897T in LQTS families and identification of novel KCNQ1 and KCNH2mutations
Xianqin Zhang, Shenghan Chen, Li Zhang, Mugen Liu, Sharon Redfearn, Randall M Bryant, Carlos Oberti, G Michael Vincent, Qing K Wang
Functional analysis of the novel TBX5c.1333delC mutation resulting in an extended TBX5 protein
Johann Böhm, Wolfram Heinritz, Alexander Craig, Mihailo Vujic, Britt-Marie Ekman-Joelsson, Jürgen Kohlhase, Ursula Froster
French database of children and adolescents with Prader-Willi syndrome
Catherine Molinas, Laurent Cazals, Gwenaelle Diene, Melanie Glattard, Catherine Arnaud, Maithe Tauber
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, Kari E North
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, Qing Jiang
Extending the spectrum of Ellis van Creveld syndrome: a large family with a mild mutation in the EVCgene
Hakan Ulucan, Davut Gül, Julie C Sapp, John Cockerham, Jennifer J Johnston, Leslie G Biesecker
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, Stephen B Liggett
Significant association of SREBP-2genetic 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, Shin-Yoon Kim
Adverse events in families with hypertrophic or dilated cardiomyopathy and mutations in the MYBPC3gene
Philipp Ehlermann, Dieter Weichenhan, Jörg Zehelein, Henning Steen, Regina Pribe, Raphael Zeller, Stephanie Lehrke, Christian Zugck, Boris T Ivandic, Hugo A Katus
Non-synonymous sequence variants within the oxygen-dependent degradation domain of the HIF1Agene are not associated with pre-eclampsia in the Finnish population
Sanna Heino, Milja Kaare, Sture Andersson, Hannele Laivuori
A new 500 kb haplotype associated with high CD8+ T-lymphocyte numbers predicts a less severe expression of hereditary hemochromatosis
Eugénia Cruz, Chris Whittington, Samuel H Krikler, Cláudia Mascarenhas, Rosa Lacerda, Jorge Vieira, Graça Porto
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
A novel HSF4gene 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, Jamil Ahmad
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, Hans-Ulrich Häring
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, Peter Mangell
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, Wasim Ahmad
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, DC Rao
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, Armando Reyes-Engel
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, Annemieke Aartsma-Rus
TCF7L2variant genotypes and type 2 diabetes risk in Brazil: significant association, but not a significant tool for risk stratification in the general population
GF Marquezine, AC Pereira, AGP Sousa, JG Mill, WA Hueb, JE Krieger
Genomic NGFBvariation and multiple sclerosis in a case control study
Denis A Akkad, Niels Kruse, Larissa Arning, Ralf Gold, Jörg T Epplen
No germline mutations in supposed tumour suppressor genes SAFB1 and SAFB2in familial breast cancer with linkage to 19p
Annika Bergman, Frida Abel, Afrouz Behboudi, Maria Yhr, Jan Mattsson, Jan H Svensson, Per Karlsson, Margareta Nordling
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, Lyn R Griffiths
Association between Ngb polymorphisms and ischemic stroke in the Southern Chinese Han population
Yi Lin, Ling Fang, Xie-Hua Xue, Shen-Xing Murong, Ning Wang, Zhi-Ying Wu
Polymorphisms in the interleukin-10 gene cluster are possibly involved in the increased risk for major depressive disorder
Tanel Traks, Kati Koido, Triin Eller, Eduard Maron, Külli Kingo, Veiko Vasar, Eero Vasar, Sulev Kõks
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, Jesús González-Macías
Genome wide association for substance dependence: convergent results from epidemiologic and research volunteer samples
Catherine Johnson, Tomas Drgon, Qing-Rong Liu, Ping-Wu Zhang, Donna Walther, Chuan-Yun Li, James C Anthony, Yulan Ding, William W Eaton, George R Uhl
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, Thomas K Hoffmann
DNA methylation and mRNA expression of SYN III, a candidate gene for schizophrenia
Brenda C Murphy, Richard L O'Reilly, Shiva M Singh
Selecting a BRCA risk assessment model for use in a familial cancer clinic
Seema M Panchal, Marguerite Ennis, Sandra Canon, Louise J Bordeleau
INSIG2 gene polymorphism is associated with increased subcutaneous fat in women and poor response to resistance training in men
Funda E Orkunoglu-Suer, Heather Gordish-Dressman, Priscilla M Clarkson, Paul D Thompson, Theodore J Angelopoulos, Paul M Gordon, Niall M Moyna, Linda S Pescatello, Paul S Visich, Robert F Zoeller, Brennan Harmon, Richard L Seip, Eric P Hoffman, Joseph M Devaney
Lack of association between PKLR rs3020781 and NOS1AP rs7538490 and type 2 diabetes, overweight, obesity and related metabolic phenotypes in a Danish large-scale study: case-control studies and analyses of quantitative traits
Camilla Helene Andreasen, Mette Sloth Mogensen, Knut Borch-Johnsen, Annelli Sandbæk, Torsten Lauritzen, Katrine Almind, Lars Hansen, Torben Jørgensen, Oluf Pedersen, Torben Hansen
Association analyses of the interaction between the ADSS and ATMgenes with schizophrenia in a Chinese population
Fuquan Zhang, Yong Xu, Pozi Liu, Hua Fan, Xuezhu Huang, Gaoxiang Sun, Yuqing Song, Pak C Sham
Folliculin mutations are not associated with severe COPD
Michael H Cho, Barbara J Klanderman, Augusto A Litonjua, David Sparrow, Edwin K Silverman, Benjamin A Raby