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IGF2/H19 hypomethylation in a patient with very
low birthweight, preocious pubarche and insulin
resistance
Rinki Murphy, Lourdes Ibáñez, Andrew Hattersley, Jörg Tost BMC Medical Genetics 2012, 13:42 (30 May 2012)
Abstract | Provisional PDF
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Relationships between the ABO blood group SNP
rs505922 and breast cancer phenotypes: a genotypephenotype
correlation study
Seth Rummel, Craig D Shriver, Rachel E Ellsworth BMC Medical Genetics 2012, 13:41 (29 May 2012)
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Association between polymorphisms in the
adiponectin gene and cardiovascular disease: a
meta-analysis
Huan Zhang, Xingbo Mo, YongChen Hao, Dongfeng Gu BMC Medical Genetics 2012, 13:40 (28 May 2012)
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TGFB1 genetic polymorphisms and coronary heart disease risk: a meta-analysis
Yingchang Lu, Jolanda MA Boer, Roza M Barsova, Olga Favorova, Anuj Goel, Inke König, Michael Müller, Edith JM Feskens BMC Medical Genetics 2012, 13:39 (18 May 2012)
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Circulating leukocyte telomere length is highly heritable among families of Arab descent
Omar Al-Attas, Nasser Al-Daghri, Majed Alokail, Khalid Alkharfy, Assim Alfadda, Philip McTernan, Greg Gibson, Shaun Sabico, George Chrousos BMC Medical Genetics 2012, 13:38 (18 May 2012)
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Reliable and rapid characterization of functional
FCN2 gene variants reveals diverse geographical
patterns
Olusola Ojurongbe, Eman Abou Ouf, Hoang Van Tong, Nguyen L Toan, Le H Song, Paola R Luz, Iara JT Messias-Reason, Dennis Nurjadi, Phillip Zanger, Jürgen FJ Kun, Peter G Kremsner, Thirumalaisamy P Velavan BMC Medical Genetics 2012, 13:37 (17 May 2012)
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The MAP2K5-linked SNP rs2241423 is associated
with BMI and obesity in two cohorts of Swedish and
Greek children
Mathias Rask-Andersen, Josefin A Jacobsson, George Moschonis, Anna E Ek, George P Chrousos, Claude Marcus, Yannis Manios, Robert Fredriksson, Helgi B Schiöth BMC Medical Genetics 2012, 13:36 (17 May 2012)
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Computational identification and experimental
validation of microRNAs binding to the Alzheimerrelated
gene ADAM10
Regina Augustin, Kristina Endres, Sven Reinhardt, Peer-Hendrik Kuhn, Stefan F Lichtenthaler, Jens Hansen, Wolfgang Wurst, Dietrich Trümbach BMC Medical Genetics 2012, 13:35 (17 May 2012)
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A novel multiplex PCR-RFLP method for
simultaneous detection of the MTHFR 677 C > T,
eNOS +894 G > T and - eNOS -786 T > C variants
among Malaysian Malays
Loo Keat Wei, Lyn Robyn Griffiths, Gan Siew Hua BMC Medical Genetics 2012, 13:34 (17 May 2012)
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The genetic variants at the HLA-DRB1 gene are
associated with primary IgA nephropathy in Han
Chinese
Yang Jiyun, Li Guisen, Zhu Li, Shi Yi, Lv Jicheng, Lu Fang, Liu Xiaoqi, Ma Shi, Jing Cheng, Lin Ying, Wang Haiyan, Wang Li, Zhang Hong, Yang Zhenglin BMC Medical Genetics 2012, 13:33 (14 May 2012)
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No Association of nineteen COX-2 gene variants to
preclinical markers of atherosclerosis The
Cardiovascular Risk in Young Finns Study
Kati Lähteelä, Tarja Kunnas, Leo-Pekka Lyytikäinen, Nina Mononen, Leena Taittonen, Tomi Laitinen, Johannes Kettunen, Markus Juonala, Nina Hutri-Kähönen, Mika Kähönen, Jorma S Viikari, Olli T Raitakari, Terho Lehtimäki, Seppo T Nikkari BMC Medical Genetics 2012, 13:32 (2 May 2012)
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Polymorphisms in the mitochondrial oxidative
phosphorylation chain genes as prognostic markers
for colorectal cancer
Jesus Lascorz, Melanie Bevier, Witigo V Schönfels, Holger Kalthoff, Heiko Aselmann, Jan Beckmann, Jan Egberts, Stephan Buch, Thomas Becker, Stefan Schreiber, Jochen Hampe, Kari Hemminki, Asta Försti, Clemens Schafmayer BMC Medical Genetics 2012, 13:31 (30 April 2012)
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Race-ethnic differences in the association of genetic loci with HbA1c levels and mortality in U.S. adults: the third National Health and Nutrition Examination Survey (NHANES III)
Jonna L Grimsby, Bianca C Porneala, Jason L Vassy, Quanhe Yang, José C Florez, Josée Dupuis, Tiebin Liu, Ajay Yesupriya, Man-Huei Chang, Renee M Ned, Nicole F Dowling, Muin J Khoury, James B Meigs, The MAGIC Investigators BMC Medical Genetics 2012, 13:30 (27 April 2012)
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Genotyping of a tri-allelic polymorphism by a novel
melting curve assay in MTHFD1L: an association
study of nonsyndromic Cleft in Ireland
Stefano Minguzzi, Anne M Molloy, Kirke Peadar, James Mills, John M Scott, James Troendle, Faith Pangilinan, Lawrence Brody, Anne Parle-McDermott BMC Medical Genetics 2012, 13:29 (20 April 2012)
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Beta catenin and cytokine pathway dysregulation in patients with manifestations of the "PTEN hamartoma tumor syndrome"
Martina Galatola, Lorella Paparo, Francesca Duraturo, Mimmo Turano, Giovanni Rossi, Paola Izzo, Marina De Rosa BMC Medical Genetics 2012, 13:28 (20 April 2012)
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Non-replication study of a genome-wide association study for hypertension and blood pressure in African Americans
Srividya Kidambi, Soumitra Ghosh, Jane M Kotchen, Clarence E Grim, Shanthi Krishnaswami, Mary L Kaldunski, Allen W Cowley, Shailendra B Patel, Theodore A Kotchen BMC Medical Genetics 2012, 13:27 (11 April 2012)
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Mutations in LRP5 cause primary osteoporosis without features of OI by reducing Wnt signaling activity
Johanna Korvala, Harald Jüppner, Outi Mäkitie, Etienne Sochett, Dirk Schnabel, Stefano Mora, Cynthia F Bartels, Matthew L Warman, Donald Deraska, William G Cole, Heini Hartikka, Leena Ala-Kokko, Minna Männikkö BMC Medical Genetics 2012, 13:26 (10 April 2012)
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Systems analysis of inflammatory bowel disease based on comprehensive gene information
Satoru Suzuki, Takako Takai-Igarashi, Yutaka Fukuoka, Dennis P Wall, Hiroshi Tanaka, Peter J Tonellato BMC Medical Genetics 2012, 13:25 (5 April 2012)
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Mutations in the potassium channel subunit KCNE1 are associated with early-onset familial atrial fibrillation
Morten S Olesen, Bo H Bentzen, Jonas B Nielsen, Annette B Steffensen, Jens-Peter David, Javad Jabbari, Henrik K Jensen, Stig Haunsø, Jesper H Svendsen, Nicole Schmitt BMC Medical Genetics 2012, 13:24 (3 April 2012)
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A mutation at IVS1 + 5 of the von Hippel-Lindau gene resulting in intron retention in transcripts is not pathogenic in a patient with a tongue cancer?: case report
Takeshi Asakawa, Mariko Esumi, Sohei Endo, Akinori Kida, Minoru Ikeda BMC Medical Genetics 2012, 13:23 (31 March 2012)
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Genetic variations in APPL2 are associated with overweight and obesity in a Chinese population with normal glucose tolerance
Shan Jiang, Qichen Fang, Weihui Yu, Rong Zhang, Cheng Hu, Kun Dong, Yuqian Bao, Chen Wang, Kunsan Xiang, Weiping Jia BMC Medical Genetics 2012, 13:22 (30 March 2012)
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Functional effects of the TMEM43 Ser358Leu mutation in the pathogenesis of arrhythmogenic right ventricular cardiomyopathy
Revathi Rajkumar, John C Sembrat, Barbara McDonough, Christine E Seidman, Ferhaan Ahmad BMC Medical Genetics 2012, 13:21 (29 March 2012)
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The absence of dystrophin brain isoform expression in healthy human heart ventricles explains the pathogenesis of 5' X-linked dilated cardiomyopathy
Marcella Neri, Emanuele Valli, Giovanna Alfano, Matteo Bovolenta, Pietro Spitali, Claudio Rapezzi, Francesco Muntoni, Sandro Banfi, Giovanni Perini, Francesca Gualandi, Alessandra Ferlini BMC Medical Genetics 2012, 13:20 (28 March 2012)
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Microdeletion del(22)(q12.2) encompassing the facial development-associated gene, MN1 (meningioma 1) in a child with Pierre-Robin sequence (including cleft palate) and neurofibromatosis 2 (NF2): a case report and review of the literature
Tom B Davidson, Pedro A Sanchez-Lara, Linda M Randolph, Mark D Krieger, Shi-Qi Wu, Ashok Panigrahy, Hiroyuki Shimada, Anat Erdreich-Epstein BMC Medical Genetics 2012, 13:19 (22 March 2012)
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An autosomal recessive leucoencephalopathy with ischemic stroke, dysmorphic syndrome and retinitis pigmentosa maps to chromosome 17q24.2-25.3
Ahmed Bouhouche, Ali Benomar, Leila Errguig, Lamiae Lachhab, Naima Bouslam, Jehanne Aasfara, Sanaa Sefiani, Layachi Chabraoui, Elmostafa El Fahime, Abdeljalil El Quessar, Mohamed Jiddane, Mohamed Yahyaoui BMC Medical Genetics 2012, 13:18 (21 March 2012)
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