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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 |
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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 (30December2008)
[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 (30December2008)
[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 (26December2008)
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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 (23December2008)
[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 (22December2008)
[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 (22December2008)
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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 (22December2008)
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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 (18December2008)
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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, Mara T Garca-Unzueta, Jos A Amado, Jes s Gonz lez-Macas
BMC Medical Genetics 2008, 9:112 (17December2008)
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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 (16December2008)
[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 (16December2008)
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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 (16December2008)
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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 (13December2008)
[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 (8December2008)
[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 (4December2008)
[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 (1December2008)
[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 Jimnez, Mara Jess Gaitn, Alfonso Rodrguez, Maximiliano Ruiz, Armando Reyes-Engel
BMC Medical Genetics 2008, 9:104 (28November2008)
[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 (27November2008)
[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 (27November2008)
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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 (26November2008)
[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, Jrgen Machann, Fritz Schick, Otto Tschritter, Norbert Stefan, Andreas Fritsche, Hans-Ulrich H ring
BMC Medical Genetics 2008, 9:100 (12November2008)
[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 (11November2008)
[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 Gonzlez-Lamu o, Amelia Mart, Esther Nova, Miguel Garca Fuentes, Carlos Redondo-Figuero, J Alfredo Martnez, Michael Sjstrm, Manuel J Castillo, the AVENA Study Group
BMC Medical Genetics 2008, 9:98 (10November2008)
[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
Eugnia Cruz, Chris Whittington, Samuel H Krikler, Cludia Mascarenhas, Rosa Lacerda, Jorge Vieira, Gra a Porto
BMC Medical Genetics 2008, 9:97 (6November2008)
[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 (3November2008)
[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, Jrg Zehelein, Henning Steen, Regina Pribe, Raphael Zeller, Stephanie Lehrke, Christian Zugck, Boris T Ivandic, Hugo A Katus
BMC Medical Genetics 2008, 9:95 (28October2008)
[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 (27October2008)
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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 (23October2008)
[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 Gl, Julie C Sapp, John Cockerham, Jennifer J Johnston, Leslie G Biesecker
BMC Medical Genetics 2008, 9:92 (23October2008)
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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 (22October2008)
[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 Gring, 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 (14October2008)
[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 (2October2008)
[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 Bhm, Wolfram Heinritz, Alexander Craig, Mihailo Vujic, Britt-Marie Ekman-Joelsson, Jrgen Kohlhase, Ursula Froster
BMC Medical Genetics 2008, 9:88 (1October2008)
[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 (23September2008)
[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 (19September2008)
[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 Mller, Anke Hinney, Andr Scherag, Thuy T Nguyen, Felix Schreiner, Helmut Schfer, Johannes Hebebrand, Christian L Roth, Thomas Reinehr
BMC Medical Genetics 2008, 9:85 (17September2008)
[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 Ferrires, Philippe Amouyel, Aline Meirhaeghe
BMC Medical Genetics 2008, 9:84 (12September2008)
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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 Grve
BMC Medical Genetics 2008, 9:83 (10September2008)
[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 (9September2008)
[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 (21August2008)
[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 (16August2008)
[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 (15August2008)
[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 Guant-Rodriguez, Jean-Pierre Bronowicki, Marc-Andr Bigard, Jean-Louis Guant
BMC Medical Genetics 2008, 9:78 (13August2008)
[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 (12August2008)
[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 (8August2008)
[Abstract] [Full text] [PDF] [PubMed] [Related articles]
Research article
Mutation study of Spanish patients with Hereditary Hemorrhagic Telangiectasia
Ana Fontalba, Africa Fernandez-L, Eva Garca-Alegria, Virginia Albiana, 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 (1August2008)
[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 (30July2008)
[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 (28July2008)
[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 (26July2008)
[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 (21July2008)
[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 Grnhage, 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 (21July2008)
[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 (18July2008)
[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 (17July2008)
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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 (14July2008)
[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 (12July2008)
[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, Jrgen Seissler, Klaus Badenhoop
BMC Medical Genetics 2008, 9:65 (11July2008)
[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 (10July2008)
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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 (7July2008)
[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 (7July2008)
[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 (5July2008)
[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 (3July2008)
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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 (3July2008)
[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 Jnson, Anders Albrechtsen, Bettina Filtenborg-Barnkob, Hans Eiberg, Bent Ejlertsen, Finn C Nielsen
BMC Medical Genetics 2008, 9:58 (2July2008)
[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 Simes, Amlia Nogueira Pinto, Ricardo Taipa, Carla Ferreira, Jo o Ramalho Fontes, Mrio Rui Silva, Joo Paulo Gabriel, Ilda Matos, Gabriela Lopes, Jos M Ferro, Astrid M Vicente, Sofia A Oliveira
BMC Medical Genetics 2008, 9:57 (1July2008)
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Research article
Linkage disequilibrium mapping of a breast cancer susceptibility locus near RAI/PPP1R13L/iASPP
Bjrn 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, Sren Cold, Kim Overvad, Anne Tjnneland, Lars Bolund, Anders D Brglum
BMC Medical Genetics 2008, 9:56 (27June2008)
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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 (27June2008)
[Abstract] [Full text] [PDF] [PubMed] [Related articles]
Research article
Genetic and biochemical studies in Argentinean patients with variegate porphyria
Mara V Rossetti, Brbara X Granata, Jimena Giudice, Victoria E Parera, Alcira Batlle
BMC Medical Genetics 2008, 9:54 (20June2008)
[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 (20June2008)
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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 Tjnneland, Anja Olsen, Ann-Christine Syvnen, Claus L Andersen, Torben F  rntoft
BMC Medical Genetics 2008, 9:52 (11June2008)
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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 (9June2008)
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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 (6June2008)
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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 (3June2008)
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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 (2June2008)
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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 (27May2008)
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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 (22May2008)
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The genetic susceptibility to type 2 diabetes may be modulated by obesity status: implications for association studies
Stphane Cauchi, Kevin T Nead, Hlne Choquet, Fritz Horber, Natascha Potoczna, Beverley Balkau, Michel Marre, Guillaume Charpentier, Philippe Froguel, David Meyre
BMC Medical Genetics 2008, 9:45 (22May2008)
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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 (22May2008)
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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 (21May2008)
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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 (20May2008)
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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-Ngrier, Stphane Allouche, Ccile 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 (7May2008)
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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 Garca Borrs, Liliana L Racca, Claudia S Biondi, Amelia L Racca
BMC Medical Genetics 2008, 9:40 (6May2008)
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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 Jnsson, Ole A Andreassen, Thomas Werge
BMC Medical Genetics 2008, 9:39 (6May2008)
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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 (28April2008)
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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 (25April2008)
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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 (24April2008)
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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 (23April2008)
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Association of limbic system-associated membrane protein (LSAMP) to male completed suicide
Anne Must, Gunnar Tasa, Aavo Lang, Eero Vasar, Sulev Kks, Eduard Maron, Marika Vli
BMC Medical Genetics 2008, 9:34 (23April2008)
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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 (22April2008)
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Heritability of cardiovascular risk factors in a Brazilian population: Baependi Heart Study
Camila M de Oliveira, Alexandre C Pereira, Mariza de Andrade, Jlia M Soler, Jos E Krieger
BMC Medical Genetics 2008, 9:32 (22April2008)
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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 (21April2008)
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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 (21April2008)
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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 (16April2008)
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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 (14April2008)
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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 Gonzlez, Blanca Gener, Enrique Galn, Laura Toledo, Luis A Prez-Jurado
BMC Medical Genetics 2008, 9:27 (11April2008)
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Technical advance
Minisequencing mitochondrial DNA pathogenic mutations
Vanesa lvarez-Iglesias, Francisco Barros, ngel Carracedo, Antonio Salas
BMC Medical Genetics 2008, 9:26 (10April2008)
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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 (10April2008)
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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 (9April2008)
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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 (2April2008)
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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 (27March2008)
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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 (26March2008)
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