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Browsing Clinical Science by Title

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Browsing Clinical Science by Title

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  • Sherva, Richard; Sripichai, Orapan; Abel, Kenneth; Ma, Qianli; Whitacre, Johanna; Angkachatchai, Vach; Makarasara, Wattanan; Winichagoon, Pranee; Svasti, Saovaros; Fucharoen, Suthat; Braun, Andreas; Farrer, Lindsay A (BioMed Central, 2010-3-30)
    BACKGROUND: Patients with Hb E/β0 thalassemia display remarkable variability in disease severity. To identify genetic modifiers influencing disease severity, we conducted a two-stage genome scan in groups of 207 mild and ...
  • Wang, Xuting; Chorley, Brian N.; Pittman, Gary S.; Kleeberger, Steven R.; Brothers, John; Liu, Gang; Spira, Avrum; Bell, Douglas A. (Public Library of Science, 2010-8-3)
    Prior microarray studies of smokers at high risk for lung cancer have demonstrated that heterogeneity in bronchial airway epithelial cell gene expression response to smoking can serve as an early diagnostic biomarker for ...
  • Cupples, L Adrienne; Heard-Costa, Nancy; Lee, Monica; Atwood, Larry D (BioMed Central, 2009-12-15)
    Genetic Analysis Workshop 16 (GAW16) Problem 2 presented data from the Framingham Heart Study (FHS), an observational, prospective study of risk factors for cardiovascular disease begun in 1948. Data have been collected ...
  • Hwang, Shih-Jen; Yang, Qiong; Meigs, James B; Pearce, Elizabeth N; Fox, Caroline S (BioMed Central, 2007-9-19)
    BACKGROUND: Glomerular filtration rate (GFR) and urinary albumin excretion (UAE) are markers of kidney function that are known to be heritable. Many endocrine conditions have strong familial components. We tested for ...
  • Vasan, Ramachandran S; Larson, Martin G; Aragam, Jayashri; Wang, Thomas J; Mitchell, Gary F; Kathiresan, Sekar; Newton-Cheh, Christopher; Vita, Joseph A; Keyes, Michelle J; O'Donnell, Christopher J; Levy, Daniel; Benjamin, Emelia J (BioMed Central, 2007-9-19)
    BACKGROUND: Echocardiographic left ventricular (LV) measurements, exercise responses to standardized treadmill test (ETT) and brachial artery (BA) vascular function are heritable traits that are associated with cardiovascular ...
  • Gottlieb, Daniel J; O'Connor, George T; Wilk, Jemma B (BioMed Central, 2007-9-19)
    BACKGROUND: Numerous studies suggest genetic influences on sleepiness and circadian rhythms. The Sleep Heart Health Study collected questionnaire data on sleep habits and sleepiness from 2848 Framingham Heart Study Offspring ...
  • Kottgen, Anna; Kao, Wen Hong L; Hwang, Shih-Jen; Boerwinkle, Eric; Yang, Qiong; Levy, Daniel; Benjamin, Emelia J; Larson, Martin G; Astor, Brad C; Coresh, Josef; Fox, Caroline S (BioMed Central, 2008-6-3)
    BACKGROUND: The Framingham Heart Study (FHS) recently obtained initial results from the first genome-wide association scan for renal traits. The study of 70,987 single nucleotide polymorphisms (SNPs) in 1,010 FHS participants ...
  • O'Donnell, Christopher J; Cupples, L Adrienne; D'Agostino, Ralph B; Fox, Caroline S; Hoffmann, Udo; Hwang, Shih-Jen; Ingellson, Erik; Liu, Chunyu; Murabito, Joanne M; Polak, Joseph F; Wolf, Philip A; Demissie, Serkalem (BioMed Central, 2007-9-19)
    INTRODUCTION: Subclinical atherosclerosis (SCA) measures in multiple arterial beds are heritable phenotypes that are associated with increased incidence of cardiovascular disease. We conducted a genome-wide association ...
  • Murabito, Joanne M; Rosenberg, Carol L; Finger, Daniel; Kreger, Bernard E; Levy, Daniel; Splansky, Greta Lee; Antman, Karen; Hwang, Shih-Jen (BioMed Central, 2007-9-19)
    BACKGROUND: Breast and prostate cancer are two commonly diagnosed cancers in the United States. Prior work suggests that cancer causing genes and cancer susceptibility genes can be identified. METHODS: We conducted a ...
  • Wilk, Jemma B.; Chen, Ting-hsu; Gottlieb, Daniel J.; Walter, Robert E.; Nagle, Michael W.; Brandler, Brian J.; Myers, Richard H.; Borecki, Ingrid B.; Silverman, Edwin K.; Weiss, Scott T.; O'Connor, George T. (Public Library of Science, 2009-3-20)
    The ratio of forced expiratory volume in one second to forced vital capacity (FEV1/FVC) is a measure used to diagnose airflow obstruction and is highly heritable. We performed a genome-wide association study in 7,691 ...
  • Fox, Caroline S; Heard-Costa, Nancy; Cupples, L Adrienne; Dupuis, Josée; Vasan, Ramachandran S; Atwood, Larry D (BioMed Central, 2007-9-19)
    BACKGROUND: Obesity is related to multiple cardiovascular disease (CVD) risk factors as well as CVD and has a strong familial component. We tested for association between SNPs on the Affymetrix 100K SNP GeneChip and measures ...
  • Kiel, Douglas P; Demissie, Serkalem; Dupuis, Josée; Lunetta, Kathryn L; Murabito, Joanne M; Karasik, David (BioMed Central, 2007-9-19)
    BACKGROUND: Osteoporosis is characterized by low bone mass and compromised bone structure, heritable traits that contribute to fracture risk. There have been no genome-wide association and linkage studies for these traits ...
  • Benjamin, Emelia J; Dupuis, Josée; Larson, Martin G; Lunetta, Kathryn L; Booth, Sarah L; Govindaraju, Diddahally R; Kathiresan, Sekar; Keaney, John F; Keyes, Michelle J; Lin, Jing-Ping; Meigs, James B; Robins, Sander J; Rong, Jian; Schnabel, Renate; Vita, Joseph A; Wang, Thomas J; Wilson, Peter WF; Wolf, Philip A; Vasan, Ramachandran S (BioMed Central, 2007-9-19)
    BACKGROUND: Systemic biomarkers provide insights into disease pathogenesis, diagnosis, and risk stratification. Many systemic biomarker concentrations are heritable phenotypes. Genome-wide association studies (GWAS) provide ...
  • Ma, Qianli; Yu, Yi; Meng, Yan; Farrell, John; Farrer, Lindsay A; Wilcox, Marsha A (BioMed Central, 2005-12-30)
    Both theoretical and applied studies have proven that the utility of single nucleotide polymorphism (SNP) markers in linkage analysis is more powerful and cost-effective than current microsatellite marker assays. Here we ...
  • Wyszynski, Diego F; Panhuysen, Carolien I; Ma, Qianli; Yip, Agustin G; Wilcox, Marsha; Erlich, Porat; Farrer, Lindsay A (BioMed Central, 2003-12-31)
    BACKGROUND. To find specific genes predisposing to heavy alcohol consumption (self-reported consumption of 24 grams or more of alcohol per day among men and 12 grams or more among women), we studied 330 families collected ...
  • Li, Jian-Liang; Hayden, Michael R; Warby, Simon C; Durr, Alexandra; Morrison, Patrick J; Nance, Martha; Ross, Christopher A; Margolis, Russell L; Rosenblatt, Adam; Squitieri, Ferdinando; Frati, Luigi; Gómez-Tortosa, Estrella; García, Carmen Ayuso; Suchowersky, Oksana; Klimek, Mary Lou; Trent, Ronald JA; McCusker, Elizabeth; Novelletto, Andrea; Frontali, Marina; Paulsen, Jane S; Jones, Randi; Ashizawa, Tetsuo; Lazzarini, Alice; Wheeler, Vanessa C; Prakash, Ranjana; Xu, Gang; Djoussé, Luc; Mysore, Jayalakshmi Srinidhi; Gillis, Tammy; Hakky, Michael; Cupples, L Adrienne; Saint-Hilaire, Marie H; Cha, Jang-Ho J; Hersch, Steven M; Penney, John B; Harrison, Madaline B; Perlman, Susan L; Zanko, Andrea; Abramson, Ruth K; Lechich, Anthony J; Duckett, Ayana; Marder, Karen; Conneally, P Michael; Gusella, James F; MacDonald, Marcy E; Myers, Richard H (BioMed Central, 2006-8-17)
    BACKGROUND: Age at onset of Huntington's disease (HD) is correlated with the size of the abnormal CAG repeat expansion in the HD gene; however, several studies have indicated that other genetic factors also contribute to ...
  • Latourelle, Jeanne C; Pankratz, Nathan; Dumitriu, Alexandra; Wilk, Jemma B; Goldwurm, Stefano; Pezzoli, Gianni; Mariani, Claudio B; DeStefano, Anita L; Halter, Cheryl; Gusella, James F; Nichols, William C; Myers, Richard H; Foroud, Tatiana (BioMed Central, 2009-9-22)
    BACKGROUND: Age at onset in Parkinson disease (PD) is a highly heritable quantitative trait for which a significant genetic influence is supported by multiple segregation analyses. Because genes associated with onset age ...
  • Brahmbhatt, Jamin V; Liou, Louis S (BioMed Central, 2008-1-29)
    INTRODUCTION Giant prostatic adenocarcinoma represents a rare and challenging treatment dilemma. CASE PRESENTATION We describe a case of an otherwise healthy 71-year-old African male who presented with a PSA of 5800 ng/ml ...
  • Waning, Brenda; Diedrichsen, Ellen; Jambert, Elodie; Bärnighausen, Till; Li, Yun; Pouw, Mieke; Moon, Suerie (BioMed Central, 2010-10-17)
    BACKGROUND: Important advances in the development and production of quality-certified pediatric antiretroviral (ARV) formulations have recently been made despite significant market disincentives for manufacturers. This ...
  • Latourelle, Jeanne C; Sun, Mei; Lew, Mark F; Suchowersky, Oksana; Klein, Christine; Golbe, Lawrence I; Mark, Margery H; Growdon, John H; Wooten, G Frederick; Watts, Ray L; Guttman, Mark; Racette, Brad A; Perlmutter, Joel S; Ahmed, Anwar; Shill, Holly A; Singer, Carlos; Goldwurm, Stefano; Pezzoli, Gianni; Zini, Michela; Saint-Hilaire, Marie H; Hendricks, Audrey E; Williamson, Sally; Nagle, Michael W; Wilk, Jemma B; Massood, Tiffany; Huskey, Karen W; Laramie, Jason M; DeStefano, Anita L; Baker, Kenneth B; Itin, Ilia; Litvan, Irene; Nicholson, Garth; Corbett, Alastair; Nance, Martha; Drasby, Edward; Isaacson, Stuart; Burn, David J; Chinnery, Patrick F; Pramstaller, Peter P; Al-hinti, Jomana; Moller, Anette T; Ostergaard, Karen; Sherman, Scott J; Roxburgh, Richard; Snow, Barry; Slevin, John T; Cambi, Franca; Gusella, James F; Myers, Richard H (BioMed Central, 2008-11-5)
    BACKGROUND: We report age-dependent penetrance estimates for leucine-rich repeat kinase 2 (LRRK2)-related Parkinson's disease (PD) in a large sample of familial PD. The most frequently seen LRRK2 mutation, Gly2019Ser ...

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