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Editor-in-Chief Melissa Norton, MD Medical Editor Jigisha Patel, MRCP PhD In-house Editor Scott Edmunds PhD
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| | BMC Medical Genetics, Volume 9 | | Research article
    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 BMC Medical Genetics 2008, 9:120 (30 December 2008) [Abstract] [Full text] [PDF] [PubMed] [Related articles] Research article
    Association analyses of the interaction between the ADSS and ATM genes with schizophrenia in a Chinese population Fuquan Zhang, Yong Xu, Pozi Liu, Hua Fan, Xuezhu Huang, Gaoxiang Sun, Yuqing Song, Pak C Sham BMC Medical Genetics 2008, 9:119 (30 December 2008) [Abstract] [Full text] [PDF] [PubMed] [Related articles] Research article
    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 Sandb k, Torsten Lauritzen, Katrine Almind, Lars Hansen, Torben J rgensen, Oluf Pedersen, Torben Hansen BMC Medical Genetics 2008, 9:118 (26 December 2008) [Abstract] [Full text] [PDF] [PubMed] [Related articles] Research article
    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 BMC Medical Genetics 2008, 9:117 (23 December 2008) [Abstract] [Full text] [PDF] [PubMed] [Related articles] [Cited on BioMed Central] Research article
     Selecting a BRCA risk assessment model for use in a familial cancer clinic Seema M Panchal, Marguerite Ennis, Sandra Canon, Louise J Bordeleau BMC Medical Genetics 2008, 9:116 (22 December 2008) [Abstract] [Full text] [PDF] [PubMed] [Related articles] [2 comments] Research article
    DNA methylation and mRNA expression of SYN III, a candidate gene for schizophrenia Brenda C Murphy, Richard L O'Reilly, Shiva M Singh BMC Medical Genetics 2008, 9:115 (22 December 2008) [Abstract] [Full text] [PDF] [PubMed] [Related articles] Research article
    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 BMC Medical Genetics 2008, 9:114 (22 December 2008) [Abstract] [Full text] [PDF] [PubMed] [Related articles] Research article
    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 BMC Medical Genetics 2008, 9:113 (18 December 2008) [Abstract] [Full text] [PDF] [PubMed] [Related articles] Research article
    Genetic polymorphisms are associated with serum levels of sex hormone binding globulin in postmenopausal women Jos A Riancho, Carmen Valero, Mar a T Zarrabeitia, Mar a T Garc a-Unzueta, Jos A Amado, Jes s Gonz lez-Mac as BMC Medical Genetics 2008, 9:112 (17 December 2008) [Abstract] [Full text] [PDF] [PubMed] [Related articles] Research article
    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, K lli Kingo, Veiko Vasar, Eero Vasar, Sulev K ks BMC Medical Genetics 2008, 9:111 (16 December 2008) [Abstract] [Full text] [PDF] [PubMed] [Related articles] Research article
    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 BMC Medical Genetics 2008, 9:110 (16 December 2008) [Abstract] [Full text] [PDF] [PubMed] [Related articles] Research article
    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 BMC Medical Genetics 2008, 9:109 (16 December 2008) [Abstract] [Full text] [PDF] [PubMed] [Related articles] Research article
    No germline mutations in supposed tumour suppressor genes SAFB1 and SAFB2 in familial breast cancer with linkage to 19p Annika Bergman, Frida Abel, Afrouz Behboudi, Maria Yhr, Jan Mattsson, Jan H Svensson, Per Karlsson, Margareta Nordling BMC Medical Genetics 2008, 9:108 (13 December 2008) [Abstract] [Full text] [PDF] [PubMed] [Related articles] Research article
    Genomic NGFB variation and multiple sclerosis in a case control study Denis A Akkad, Niels Kruse, Larissa Arning, Ralf Gold, J rg T Epplen BMC Medical Genetics 2008, 9:107 (8 December 2008) [Abstract] [Full text] [PDF] [PubMed] [Related articles] Research article
    TCF7L2 variant 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 BMC Medical Genetics 2008, 9:106 (4 December 2008) [Abstract] [Full text] [PDF] [PubMed] [Related articles] Research article
     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 BMC Medical Genetics 2008, 9:105 (1 December 2008) [Abstract] [Full text] [PDF] [PubMed] [Related articles] Research article
     Human genetic selection on the MTHFR 677C>T polymorphism
lvaro Mayor-Olea, Gonzalo Callej n, Arturo R Palomares, Ana J Jim nez, Mar a Jes s Gait n, Alfonso Rodr guez, Maximiliano Ruiz, Armando Reyes-Engel BMC Medical Genetics 2008, 9:104 (28 November 2008) [Abstract] [Full text] [PDF] [PubMed] [Related articles] [1 comment] Research article
    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 BMC Medical Genetics 2008, 9:103 (27 November 2008) [Abstract] [Full text] [PDF] [PubMed] [Related articles] [Cited on BioMed Central] Research article
    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 BMC Medical Genetics 2008, 9:102 (27 November 2008) [Abstract] [Full text] [PDF] [PubMed] [Related articles] Research article
    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 BMC Medical Genetics 2008, 9:101 (26 November 2008) [Abstract] [Full text] [PDF] [PubMed] [Related articles] Research article
    SIRT1 genetic variants associate with the metabolic response of Caucasians to a controlled lifestyle intervention the TULIP Study Peter Weyrich, Fausto Machicao, Julia Reinhardt, J rgen Machann, Fritz Schick, Otto Tschritter, Norbert Stefan, Andreas Fritsche, Hans-Ulrich H ring BMC Medical Genetics 2008, 9:100 (12 November 2008) [Abstract] [Full text] [PDF] [PubMed] [Related articles] Research article
    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, Jamil Ahmad BMC Medical Genetics 2008, 9:99 (11 November 2008) [Abstract] [Full text] [PDF] [PubMed] [Related articles] Research article
    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 Gonz lez-Lamu o, Amelia Mart , Esther Nova, Miguel Garc a Fuentes, Carlos Redondo-Figuero, J Alfredo Mart nez, Michael Sj str m, Manuel J Castillo, the AVENA Study Group BMC Medical Genetics 2008, 9:98 (10 November 2008) [Abstract] [Full text] [PDF] [PubMed] [Related articles] Research article
    A new 500 kb haplotype associated with high CD8+ T-lymphocyte numbers predicts a less severe expression of hereditary hemochromatosis Eug nia Cruz, Chris Whittington, Samuel H Krikler, Cl udia Mascarenhas, Rosa Lacerda, Jorge Vieira, Gra a Porto BMC Medical Genetics 2008, 9:97 (6 November 2008) [Abstract] [Full text] [PDF] [PubMed] [Related articles] Research article
    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, Hannele Laivuori BMC Medical Genetics 2008, 9:96 (3 November 2008) [Abstract] [Full text] [PDF] [PubMed] [Related articles] Research article
    Adverse events in families with hypertrophic or dilated cardiomyopathy and mutations in the MYBPC3 gene Philipp Ehlermann, Dieter Weichenhan, J rg Zehelein, Henning Steen, Regina Pribe, Raphael Zeller, Stephanie Lehrke, Christian Zugck, Boris T Ivandic, Hugo A Katus BMC Medical Genetics 2008, 9:95 (28 October 2008) [Abstract] [Full text] [PDF] [PubMed] [Related articles] Research article
    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, Shin-Yoon Kim BMC Medical Genetics 2008, 9:94 (27 October 2008) [Abstract] [Full text] [PDF] [PubMed] [Related articles] Research article
    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 BMC Medical Genetics 2008, 9:93 (23 October 2008) [Abstract] [Full text] [PDF] [PubMed] [Related articles] Research article
     Extending the spectrum of Ellis van Creveld syndrome: a large family with a mild mutation in the EVC gene Hakan Ulucan, Davut G l, Julie C Sapp, John Cockerham, Jennifer J Johnston, Leslie G Biesecker BMC Medical Genetics 2008, 9:92 (23 October 2008) [Abstract] [Full text] [PDF] [PubMed] [Related articles] Research article
    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 BMC Medical Genetics 2008, 9:91 (22 October 2008) [Abstract] [Full text] [PDF] [PubMed] [Related articles] Research article
     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 G ring, Shelley A Cole, Vincent P Diego, Sandra Laston, Barbara V Howard, Elisa T Lee, Lyle G Best, Richard R Fabsitz, Kari E North BMC Medical Genetics 2008, 9:90 (14 October 2008) [Abstract] [Full text] [PDF] [PubMed] [Related articles] Database
    French database of children and adolescents with Prader-Willi syndrome Catherine Molinas, Laurent Cazals, Gwenaelle Diene, Melanie Glattard, Catherine Arnaud, Maithe Tauber, French Reference Centre for PWS (FrRefC-PWS) BMC Medical Genetics 2008, 9:89 (2 October 2008) [Abstract] [Full text] [PDF] [PubMed] [Related articles] [Cited on BioMed Central] Research article
    Functional analysis of the novel TBX5 c.1333delC mutation resulting in an extended TBX5 protein Johann B hm, Wolfram Heinritz, Alexander Craig, Mihailo Vujic, Britt-Marie Ekman-Joelsson, J rgen Kohlhase, Ursula Froster BMC Medical Genetics 2008, 9:88 (1 October 2008) [Abstract] [Full text] [PDF] [PubMed] [Related articles] Research article
    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, Qing K Wang BMC Medical Genetics 2008, 9:87 (23 September 2008) [Abstract] [Full text] [PDF] [PubMed] [Related articles] Research article
    Prevalence of variations in melanoma susceptibility genes among Slovenian melanoma families Barbara Peric, Petra Cerkovnik, Srdjan Novakovic, Janez Zgajnar, Nikola Besic, Marko Hocevar BMC Medical Genetics 2008, 9:86 (19 September 2008) [Abstract] [Full text] [PDF] [PubMed] [Related articles] Research article
     '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 M ller, Anke Hinney, Andr Scherag, Thuy T Nguyen, Felix Schreiner, Helmut Sch fer, Johannes Hebebrand, Christian L Roth, Thomas Reinehr BMC Medical Genetics 2008, 9:85 (17 September 2008) [Abstract] [Full text] [PDF] [PubMed] [Related articles] Research article
     The APOA5 Trp19 allele is associated with metabolic syndrome via its association with plasma triglycerides Jean Dallongeville, Dominique Cottel, Aline Wagner, Pierre Ducimeti re, Jean-Bernard Ruidavets, Dominique Arveiler, Annie Bingham, Jean Ferri res, Philippe Amouyel, Aline Meirhaeghe BMC Medical Genetics 2008, 9:84 (12 September 2008) [Abstract] [Full text] [PDF] [PubMed] [Related articles] Research article
     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 Gr ve BMC Medical Genetics 2008, 9:83 (10 September 2008) [Abstract] [Full text] [PDF] [PubMed] [Related articles] Research article
    Association of ADAM33 gene polymorphisms with adult allergic asthma and rhinitis in a Chinese Han population Dongju Su, Ximei Zhang, Hong Sui, Fuzhen L , Lianhong Jin, Jing Zhang BMC Medical Genetics 2008, 9:82 (9 September 2008) [Abstract] [Full text] [PDF] [PubMed] [Related articles] Research article
    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 BMC Medical Genetics 2008, 9:81 (21 August 2008) [Abstract] [Full text] [PDF] [PubMed] [Related articles] Research article
    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, Giriraj Ratan Chandak BMC Medical Genetics 2008, 9:80 (16 August 2008) [Abstract] [Full text] [PDF] [PubMed] [Related articles] Research article
    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, Clara Gorodezky BMC Medical Genetics 2008, 9:79 (15 August 2008) [Abstract] [Full text] [PDF] [PubMed] [Related articles] Research article
    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 Gu ant-Rodriguez, Jean-Pierre Bronowicki, Marc-Andr Bigard, Jean-Louis Gu ant BMC Medical Genetics 2008, 9:78 (13 August 2008) [Abstract] [Full text] [PDF] [PubMed] [Related articles] Research article
    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 BMC Medical Genetics 2008, 9:77 (12 August 2008) [Abstract] [Full text] [PDF] [PubMed] [Related articles] Research article
    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 BMC Medical Genetics 2008, 9:76 (8 August 2008) [Abstract] [Full text] [PDF] [PubMed] [Related articles] Research article
    Mutation study of Spanish patients with Hereditary Hemorrhagic Telangiectasia Ana Fontalba, Africa Fernandez-L, Eva Garc a-Alegria, Virginia Albi ana, 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 BMC Medical Genetics 2008, 9:75 (1 August 2008) [Abstract] [Full text] [PDF] [PubMed] [Related articles] [Cited on BioMed Central] Research article
    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 BMC Medical Genetics 2008, 9:74 (30 July 2008) [Abstract] [Full text] [PDF] [PubMed] [Related articles] Research article
    The value of some Corsican sub-populations for genetic association studies Veronica Latini, Gabriella Sole, Laurent Varesi, Giuseppe Vona, Maria Serafina Ristaldi BMC Medical Genetics 2008, 9:73 (28 July 2008) [Abstract] [Full text] [PDF] [PubMed] [Related articles] Research article
    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 BMC Medical Genetics 2008, 9:72 (26 July 2008) [Abstract] [Full text] [PDF] [PubMed] [Related articles] [Cited on BioMed Central] Research article
    Autosomal dominant hereditary spastic paraplegia: Novel mutations in the REEP1 gene (SPG31) Katharina J Schlang, Larissa Arning, Joerg T Epplen, Susanne Stemmler BMC Medical Genetics 2008, 9:71 (21 July 2008) [Abstract] [Full text] [PDF] [PubMed] [Related articles] Research article
    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 Gr nhage, Matthias Jungck, Christoph Lamberti, Hildegard Keppeler, Ursula Becker, Hildegard Schulte-Witte, Dominik Plassmann, Nicolaus Friedrichs, Reinhard Buettner, Stefan Aretz, Tilman Sauerbruch, Frank Lammert BMC Medical Genetics 2008, 9:70 (21 July 2008) [Abstract] [Full text] [PDF] [PubMed] [Related articles] Research article
    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 BMC Medical Genetics 2008, 9:69 (18 July 2008) [Abstract] [Full text] [PDF] [PubMed] [Related articles] [Cited on BioMed Central] Research article
    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 BMC Medical Genetics 2008, 9:68 (17 July 2008) [Abstract] [Full text] [PDF] [PubMed] [Related articles] Research article
    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 BMC Medical Genetics 2008, 9:67 (14 July 2008) [Abstract] [Full text] [PDF] [PubMed] [Related articles] [Cited on BioMed Central] Research article
    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 BMC Medical Genetics 2008, 9:66 (12 July 2008) [Abstract] [Full text] [PDF] [PubMed] [Related articles] Research article
    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, J rgen Seissler, Klaus Badenhoop BMC Medical Genetics 2008, 9:65 (11 July 2008) [Abstract] [Full text] [PDF] [PubMed] [Related articles] Technical advance
    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 BMC Medical Genetics 2008, 9:64 (10 July 2008) [Abstract] [Full text] [PDF] [PubMed] [Related articles] Research article
    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 BMC Medical Genetics 2008, 9:63 (7 July 2008) [Abstract] [Full text] [PDF] [PubMed] [Related articles] Research article
    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 BMC Medical Genetics 2008, 9:62 (7 July 2008) [Abstract] [Full text] [PDF] [PubMed] [Related articles] Research article
    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 BMC Medical Genetics 2008, 9:61 (5 July 2008) [Abstract] [Full text] [PDF] [PubMed] [Related articles] Research article
    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 BMC Medical Genetics 2008, 9:60 (3 July 2008) [Abstract] [Full text] [PDF] [PubMed] [Related articles] Research article
     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, Mohammed I Kamboh BMC Medical Genetics 2008, 9:59 (3 July 2008) [Abstract] [Full text] [PDF] [PubMed] [Related articles] [Cited on BioMed Central] Research article
     Novel de novo BRCA2 mutation in a patient with a family history of breast cancer Thomas V O Hansen, Marie Luise Bisgaard, Lars J nson, Anders Albrechtsen, Bettina Filtenborg-Barnkob, Hans Eiberg, Bent Ejlertsen, Finn C Nielsen BMC Medical Genetics 2008, 9:58 (2 July 2008) [Abstract] [Full text] [PDF] [PubMed] [Related articles] Research article
    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 Sim es, Am lia Nogueira Pinto, Ricardo Taipa, Carla Ferreira, Jo o Ramalho Fontes, M rio Rui Silva, Jo o Paulo Gabriel, Ilda Matos, Gabriela Lopes, Jos M Ferro, Astrid M Vicente, Sofia A Oliveira BMC Medical Genetics 2008, 9:57 (1 July 2008) [Abstract] [Full text] [PDF] [PubMed] [Related articles] Research article
    Linkage disequilibrium mapping of a breast cancer susceptibility locus near RAI/PPP1R13L/iASPP Bj rn A Nex , 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, S ren Cold, Kim Overvad, Anne Tj nneland, Lars Bolund, Anders D B rglum BMC Medical Genetics 2008, 9:56 (27 June 2008) [Abstract] [Full text] [PDF] [PubMed] [Related articles] [Cited on BioMed Central] Research article
    Association between LRP5 polymorphism and bone mineral density: a Bayesian meta-analysis Bich NH Tran, Nguyen D Nguyen, John A Eisman, Tuan V Nguyen BMC Medical Genetics 2008, 9:55 (27 June 2008) [Abstract] [Full text] [PDF] [PubMed] [Related articles] Research article
    Genetic and biochemical studies in Argentinean patients with variegate porphyria Mar a V Rossetti, B rbara X Granata, Jimena Giudice, Victoria E Parera, Alcira Batlle BMC Medical Genetics 2008, 9:54 (20 June 2008) [Abstract] [Full text] [PDF] [PubMed] [Related articles] Research article
    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 BMC Medical Genetics 2008, 9:53 (20 June 2008) [Abstract] [Full text] [PDF] [PubMed] [Related articles] Research article
    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 Tj nneland, Anja Olsen, Ann-Christine Syv nen, Claus L Andersen, Torben F rntoft BMC Medical Genetics 2008, 9:52 (11 June 2008) [Abstract] [Full text] [PDF] [PubMed] [Related articles] Research article
     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 BMC Medical Genetics 2008, 9:51 (9 June 2008) [Abstract] [Full text] [PDF] [PubMed] [Related articles] Research article
    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 BMC Medical Genetics 2008, 9:50 (6 June 2008) [Abstract] [Full text] [PDF] [PubMed] [Related articles] Research article
     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 BMC Medical Genetics 2008, 9:49 (3 June 2008) [Abstract] [Full text] [PDF] [PubMed] [Related articles] Research article
    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 BMC Medical Genetics 2008, 9:48 (2 June 2008) [Abstract] [Full text] [PDF] [PubMed] [Related articles] Research article
    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 BMC Medical Genetics 2008, 9:47 (27 May 2008) [Abstract] [Full text] [PDF] [PubMed] [Related articles] Research article
    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 BMC Medical Genetics 2008, 9:46 (22 May 2008) [Abstract] [Full text] [PDF] [PubMed] [Related articles] Research article
     The genetic susceptibility to type 2 diabetes may be modulated by obesity status: implications for association studies St phane Cauchi, Kevin T Nead, H l ne Choquet, Fritz Horber, Natascha Potoczna, Beverley Balkau, Michel Marre, Guillaume Charpentier, Philippe Froguel, David Meyre BMC Medical Genetics 2008, 9:45 (22 May 2008) [Abstract] [Full text] [PDF] [PubMed] [Related articles] [Cited on BioMed Central] Research article
    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 BMC Medical Genetics 2008, 9:44 (22 May 2008) [Abstract] [Full text] [PDF] [PubMed] [Related articles] Research article
    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, The GEMIG study investigators BMC Medical Genetics 2008, 9:43 (21 May 2008) [Abstract] [Full text] [PDF] [PubMed] [Related articles] Research article
    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 BMC Medical Genetics 2008, 9:42 (20 May 2008) [Abstract] [Full text] [PDF] [PubMed] [Related articles] Research article
     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-N grier, St phane Allouche, C cile 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 BMC Medical Genetics 2008, 9:41 (7 May 2008) [Abstract] [Full text] [PDF] [PubMed] [Related articles] [Cited on BioMed Central] Research article
    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 Garc a Borr s, Liliana L Racca, Claudia S Biondi, Amelia L Racca BMC Medical Genetics 2008, 9:40 (6 May 2008) [Abstract] [Full text] [PDF] [PubMed] [Related articles] Research article
    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 J nsson, Ole A Andreassen, Thomas Werge BMC Medical Genetics 2008, 9:39 (6 May 2008) [Abstract] [Full text] [PDF] [PubMed] [Related articles] Research article
    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 BMC Medical Genetics 2008, 9:38 (28 April 2008) [Abstract] [Full text] [PDF] [PubMed] [Related articles] Research article
     A luteinizing hormone receptor intronic variant is significantly associated with decreased risk of Alzheimer's disease in males carrying an apolipoprotein E 4 allele Ryan J Haasl, M Reza Ahmadi, Sivan Vadakkadath Meethal, Carey E Gleason, Sterling C Johnson, Sanjay Asthana, Richard L Bowen, Craig S Atwood BMC Medical Genetics 2008, 9:37 (25 April 2008) [Abstract] [Full text] [PDF] [PubMed] [Related articles] [Cited on BioMed Central] Research article
    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 BMC Medical Genetics 2008, 9:36 (24 April 2008) [Abstract] [Full text] [PDF] [PubMed] [Related articles] Research article
    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 BMC Medical Genetics 2008, 9:35 (23 April 2008) [Abstract] [Full text] [PDF] [PubMed] [Related articles] Research article
    Association of limbic system-associated membrane protein (LSAMP) to male completed suicide Anne Must, Gunnar Tasa, Aavo Lang, Eero Vasar, Sulev K ks, Eduard Maron, Marika V li BMC Medical Genetics 2008, 9:34 (23 April 2008) [Abstract] [Full text] [PDF] [PubMed] [Related articles] Research article
     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 BMC Medical Genetics 2008, 9:33 (22 April 2008) [Abstract] [Full text] [PDF] [PubMed] [Related articles] Research article
    Heritability of cardiovascular risk factors in a Brazilian population: Baependi Heart Study Camila M de Oliveira, Alexandre C Pereira, Mariza de Andrade, J lia M Soler, Jos E Krieger BMC Medical Genetics 2008, 9:32 (22 April 2008) [Abstract] [Full text] [PDF] [PubMed] [Related articles] Research article
     Cathepsin D SNP associated with increased risk of variant Creutzfeldt-Jakob disease Matthew T Bishop, Gabor G Kovacs, Pascual Sanchez-Juan, Richard SG Knight BMC Medical Genetics 2008, 9:31 (21 April 2008) [Abstract] [Full text] [PDF] [PubMed] [Related articles] Research article
     Gene polymorphisms of superoxide dismutases and catalase in diabetes mellitus Milan Flekac, Jan Skrha, Jirina Hilgertova, Zdena Lacinova, Marcela Jarolimkova BMC Medical Genetics 2008, 9:30 (21 April 2008) [Abstract] [Full text] [PDF] [PubMed] [Related articles] Research article
    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 BMC Medical Genetics 2008, 9:29 (16 April 2008) [Abstract] [Full text] [PDF] [PubMed] [Related articles] Research article
    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 BMC Medical Genetics 2008, 9:28 (14 April 2008) [Abstract] [Full text] [PDF] [PubMed] [Related articles] [Cited on BioMed Central] Research article
     Array-CGH in patients with Kabuki-like phenotype: Identification of two patients with complex rearrangements including 2q37 deletions and no other recurrent aberration Ivon Cusc , Miguel del Campo, Mireia Vilardell, Eva Gonz lez, Blanca Gener, Enrique Gal n, Laura Toledo, Luis A P rez-Jurado BMC Medical Genetics 2008, 9:27 (11 April 2008) [Abstract] [Full text] [PDF] [PubMed] [Related articles] Technical advance
    Minisequencing mitochondrial DNA pathogenic mutations Vanesa lvarez-Iglesias, Francisco Barros, ngel Carracedo, Antonio Salas BMC Medical Genetics 2008, 9:26 (10 April 2008) [Abstract] [Full text] [PDF] [PubMed] [Related articles] Research article
    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 BMC Medical Genetics 2008, 9:25 (10 April 2008) [Abstract] [Full text] [PDF] [PubMed] [Related articles] Research article
    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 BMC Medical Genetics 2008, 9:24 (9 April 2008) [Abstract] [Full text] [PDF] [PubMed] [Related articles] Research article
    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 BMC Medical Genetics 2008, 9:23 (2 April 2008) [Abstract] [Full text] [PDF] [PubMed] [Related articles] Research article
    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 BMC Medical Genetics 2008, 9:22 (27 March 2008) [Abstract] [Full text] [PDF] [PubMed] [Related articles] Research article
    Influence of leukotriene gene polymorphisms on chronic rhinosinusitis Hasan Al-Shemari, Yohan Boss , Thomas J Hudson, Myrna Cabaluna, Melanie Duval, Mathieu Lemire, Sophie Vallee-Smedja, Saul Frenkiel, Martin Desrosiers BMC Medical Genetics 2008, 9:21 (26 March 2008) [Abstract] [Full text] [PDF] [PubMed] [Related articles]
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