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  1. ARNT, a member of the basic helix-loop-helix family of transcription factors, is located on human chromosome 1q21–q24, a region which showed well replicated linkage to type 2 diabetes. We hypothesized that com...

    Authors: Swapan K Das, Neeraj K Sharma, Winston S Chu, Hua Wang and Steven C Elbein

    Citation: BMC Medical Genetics 2008 9:16

    Content type: Research article

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  2. Changes in the density and expression of histamine receptors (HRH) have been detected in Parkinson's disease (PD) patients, and HRH antagonists bring about improvements in motor and other symptoms, thus sugges...

    Authors: Elena García-Martín, P Ayuso, Antonio Luengo, Carmen Martínez and José AG Agúndez

    Citation: BMC Medical Genetics 2008 9:15

    Content type: Research article

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  3. PBX1 is a biological candidate gene for type 2 diabetes at the 1q21-q24 susceptibility locus. The aim of this study was to evaluate the association of common PBX1 variants with type 2 diabetes in French Caucasia...

    Authors: Konsta Duesing, Guillaume Charpentier, Michel Marre, Jean Tichet, Serge Hercberg, Beverley Balkau, Philippe Froguel and Fernando Gibson

    Citation: BMC Medical Genetics 2008 9:14

    Content type: Research article

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  4. Transforming growth factor beta 1 (TGF-β1) gene play an important role in the acute myocardial infarction (AMI), however no investigation has been conducted so far in young AMI patients.

    Authors: Francesca Crobu, Luigi Palumbo, Erica Franco, Serena Bergerone, Sonia Carturan, Simonetta Guarrera, Simone Frea, Gianpaolo Trevi, Alberto Piazza and Giuseppe Matullo

    Citation: BMC Medical Genetics 2008 9:13

    Content type: Research article

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  5. Over the last decade, associations between Body Mass Index (BMI) and a variety of candidate genes have been reported, but samples have almost all been limited to adults. The purpose of the present study was to...

    Authors: Claire MA Haworth, Lee M Butcher, Sophia J Docherty, Jane Wardle and Robert Plomin

    Citation: BMC Medical Genetics 2008 9:12

    Content type: Research article

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  6. Mutations in genes whose products modify chromatin structure have been recognized as a cause of X-linked mental retardation (XLMR). These genes encode proteins that regulate DNA methylation (MeCP2), modify histon...

    Authors: Maribeth A Lazzaro, Matthew AM Todd, Paul Lavigne, Dominic Vallee, Adriana De Maria and David J Picketts

    Citation: BMC Medical Genetics 2008 9:11

    Content type: Research article

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  7. Tuberous sclerosis complex (TSC) is an autosomal dominant disorder characterised by seizures, mental retardation and the development of hamartomas in a variety of organs and tissues. The disease is caused by m...

    Authors: Mark Nellist, Őzgür Sancak, Miriam Goedbloed, Alwin Adriaans, Marja Wessels, Anneke Maat-Kievit, Marieke Baars, Charlotte Dommering, Ans van den Ouweland and Dicky Halley

    Citation: BMC Medical Genetics 2008 9:10

    Content type: Research article

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  8. Toll-like receptor 4 (TLR4), the signaling receptor for lipopolysaccharides, is an important member of the innate immunity system. Since several studies have suggested that type 2 diabetes might be associated ...

    Authors: Melanie Kolz, Jens Baumert, Martina Müller, Natalie Khuseyinova, Norman Klopp, Barbara Thorand, Christine Meisinger, Christian Herder, Wolfgang Koenig and Thomas Illig

    Citation: BMC Medical Genetics 2008 9:9

    Content type: Research article

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  9. Recent studies have implicated variants of the transcription factor 7-like 2 (TCF7L2) gene in genetic susceptibility to type 2 diabetes mellitus in several different populations. The aim of this study was to dete...

    Authors: Simon D Rees, Srikanth Bellary, Abigail C Britten, J Paul O'Hare, Sudhesh Kumar, Anthony H Barnett and M Ann Kelly

    Citation: BMC Medical Genetics 2008 9:8

    Content type: Research article

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  10. Whole genome amplification (WGA) methods allow diagnostic laboratories to overcome the common problem of insufficient DNA in patient specimens. Further, body fluid samples useful for cancer early detection are...

    Authors: Samantha Maragh, John P Jakupciak, Paul D Wagner, William N Rom, David Sidransky, Sudhir Srivastava and Catherine D O'Connell

    Citation: BMC Medical Genetics 2008 9:7

    Content type: Technical advance

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  11. Mental Retardation is a common heterogeneous neurodevelopment condition, which causes are still largely elusive. It has been suggested that half of the phenotypic variation of intelligence is explained by gene...

    Authors: Ana Beleza-Meireles, Ingrid Kockum, Qiu-Ping Yuan, Simone Picelli, Lennart Wetterberg, Karl-Henrik Gustavson and Martin Schalling

    Citation: BMC Medical Genetics 2008 9:6

    Content type: Research article

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  12. Pseudoexfoliation syndrome is a major risk factor for glaucoma in many populations throughout the world. Using a U.S. clinic-based case control sample with broad ethnic diversity, we show that three common SNP...

    Authors: Bao Jian Fan, Louis Pasquale, Cynthia L Grosskreutz, Douglas Rhee, Teresa Chen, Margaret M DeAngelis, Ivana Kim, Elizabeth del Bono, Joan W Miller, Tiansen Li, Jonathan L Haines and Janey L Wiggs

    Citation: BMC Medical Genetics 2008 9:5

    Content type: Research article

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  13. The Mediterranean island of Sardinia has a strikingly high incidence of the autoimmune disorders Type 1 Diabetes (T1D) and Multiple Sclerosis (MS). Furthermore, the two diseases tend to be co-inherited in the ...

    Authors: Maristella Pitzalis, Patrizia Zavattari, Raffaele Murru, Elisabetta Deidda, Magdalena Zoledziewska, Daniela Murru, Loredana Moi, Costantino Motzo, Valeria Orrù, Gianna Costa, Elisabetta Solla, Elisabetta Fadda, Lucia Schirru, Maria Cristina Melis, Marina Lai, Cristina Mancosu…

    Citation: BMC Medical Genetics 2008 9:3

    Content type: Research article

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  14. Subtelomeric regions are gene rich and deletions in these chromosomal segments have been demonstrated to account for approximately 2.5% of patients displaying mental retardation with or without association of ...

    Authors: Josef Davidsson, Anna Collin, Gudrun Björkhem and Maria Soller

    Citation: BMC Medical Genetics 2008 9:2

    Content type: Research article

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  15. Research indicates that the etiology of autism has a strong genetic component, yet so far the search for genes that contribute to the disorder, including several whole genome scans, has led to few consistent f...

    Authors: Thayne L Sweeten, Daniel W Odell, J Dennis Odell and Anthony R Torres

    Citation: BMC Medical Genetics 2008 9:1

    Content type: Research article

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  16. Cleidocranial dysplasia (CCD) is a dominantly inherited disease characterized by hypoplastic or absent clavicles, large fontanels, dental dysplasia, and delayed skeletal development. The purpose of this study ...

    Authors: Shaohua Tang, Qiyu Xu, Xueqin Xu, Jicheng Du, Xuemei Yang, Yusheng Jiang, Xiaoqin Wang, Nancy Speck and Taosheng Huang

    Citation: BMC Medical Genetics 2007 8:82

    Content type: Research article

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  17. Mitochondrial DNA (mtDNA) mutations account for at least 5% of cases of postlingual, nonsyndromic hearing impairment. Among them, mutation A1555G is frequently found associated with aminoglycoside-induced and/...

    Authors: Ester Ballana, Josep Maria Mercader, Nathan Fischel-Ghodsian and Xavier Estivill

    Citation: BMC Medical Genetics 2007 8:81

    Content type: Research article

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  18. Common polymorphisms in the promoter of the APOC3 gene have been associated with hypertriglyceridemia and may impact on phenotypic expression of the metabolic syndrome (MetS). The rs7566605 marker, located near t...

    Authors: Rebecca L Pollex, Matthew R Ban, T Kue Young, Peter Bjerregaard, Sonia S Anand, Salim Yusuf, Bernard Zinman, Stewart B Harris, Anthony JG Hanley, Philip W Connelly, Murray W Huff and Robert A Hegele

    Citation: BMC Medical Genetics 2007 8:80

    Content type: Research article

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  19. Niemann-Pick disease type A and B is caused by a deficiency of acid sphingomyelinase due to mutations in the sphingomyelin phosphodiesterase-1 (SMPD1) gene. In Niemann-Pick patients, SMPD1 gene defects are report...

    Authors: Zari Dastani, Isabelle L Ruel, James C Engert, Jacques Genest Jr and Michel Marcil

    Citation: BMC Medical Genetics 2007 8:79

    Content type: Research article

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  20. Type II syndactyly or synpolydactyly (SPD) is clinically very heterogeneous, and genetically three distinct SPD conditions are known and have been designated as SPD1, SPD2 and SPD3, respectively. SPD1 type is ...

    Authors: Sajid Malik, KM Girisha, Muhammad Wajid, Akhilesh K Roy, Shubha R Phadke, Sayedul Haque, Wasim Ahmad, Manuela C Koch and Karl-Heinz Grzeschik

    Citation: BMC Medical Genetics 2007 8:78

    Content type: Research article

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  21. A polymorphism at codon 129 of the prion protein gene (PRNP) is the only well-known genetic risk factor for Creutzfeldt-Jakob disease (CJD). However, there is increasing evidence that other loci outside the PRNP ...

    Authors: Pascual Sánchez-Juan, Matthew T Bishop, Alison Green, Claudia Giannattasio, Alejandro Arias-Vasquez, Anna Poleggi, Richard SG Knight and Cornelia M van Duijn

    Citation: BMC Medical Genetics 2007 8:77

    Content type: Research article

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  22. Ischemic stroke is the most common cause of disability in North America and in addition to the generally accepted risk factors, there is increasing evidence for the potential pathophysiological role of genes. ...

    Authors: RP Grewal, AVC Dutra, Yi C Liao, Ss H Juo and NIH Papamitsakis

    Citation: BMC Medical Genetics 2007 8:76

    Content type: Research article

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  23. The etiology of Ulcerative Colitis (UC) and Crohn's Disease (CD), considered together as Inflammatory Bowel Diseases (IBD), involves environmental and genetic factors. Although some genes are already known, th...

    Authors: Concepción Núñez, Javier Oliver, Juan Luis Mendoza, María Gómez-García, Carlos Taxonera, Luis M Gómez, Miguel A López-Nevot, Emilio G de la Concha, Elena Urcelay, Alfonso Martínez and Javier Martín

    Citation: BMC Medical Genetics 2007 8:75

    Content type: Research article

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  24. Autism is a complex, heterogeneous, behaviorally-defined disorder characterized by disruptions of the nervous system and of other systems such as the pituitary-hypothalamic axis. In a previous genome wide scre...

    Authors: Anne Philippi, Frédéric Tores, Jérome Carayol, Francis Rousseau, Mélanie Letexier, Elke Roschmann, Pierre Lindenbaum, Abdel Benajjou, Karine Fontaine, Céline Vazart, Philippe Gesnouin, Peter Brooks and Jörg Hager

    Citation: BMC Medical Genetics 2007 8:74

    Content type: Research article

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  25. The estrogen receptors α and β (ESR1, ESR2) have been implicated in adiposity, lipid metabolism and feeding behaviour. In this report we analyse ESR1 and ESR2 gene single nucleotide polymorphisms (SNPs) for assoc...

    Authors: Maria Nilsson, Ingrid Dahlman, Hong Jiao, Jan-Åke Gustafsson, Peter Arner and Karin Dahlman-Wright

    Citation: BMC Medical Genetics 2007 8:73

    Content type: Research article

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  26. Studies in animals and humans clearly indicate a role for prolactin (PRL) in breast epithelial proliferation, differentiation, and tumorigenesis. Prospective epidemiological studies have also shown that women ...

    Authors: Sulggi A Lee, Christopher A Haiman, Noel P Burtt, Loreall C Pooler, Iona Cheng, Laurence N Kolonel, Malcolm C Pike, David Altshuler, Joel N Hirschhorn, Brian E Henderson and Daniel O Stram

    Citation: BMC Medical Genetics 2007 8:72

    Content type: Research article

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  27. As genes associated with immune-mediated diseases have an increased prior probability of being associated with other immune-mediated diseases, we tested three such genes, IL23R , IRF5 and CD40 , for an associatio...

    Authors: Jason D Cooper, Deborah J Smyth, Rebecca Bailey, Felicity Payne, Kate Downes, Lisa M Godfrey, Jennifer Masters, Lauren R Zeitels, Adrian Vella, Neil M Walker and John A Todd

    Citation: BMC Medical Genetics 2007 8:71

    Content type: Research article

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  28. Osteoporosis is defined as the loss of bone mineral density that leads to bone fragility with aging. Population-based case-control studies have identified polymorphisms in many candidate genes that have been a...

    Authors: Kyung-Seon Kim, Ghi-Su Kim, Joo-Yeon Hwang, Hye-Ja Lee, Mi-Hyun Park, Kwang-joong Kim, Jongsun Jung, Hyo-Soung Cha, Hyoung Doo Shin, Jong-Ho Kang, Eui Kyun Park, Tae-Ho Kim, Jung-Min Hong, Jung-Min Koh, Bermseok Oh, Kuchan Kimm…

    Citation: BMC Medical Genetics 2007 8:70

    Content type: Research article

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  29. Hereditary hemochromatosis (HH) is a common genetic disease characterized by excessive iron overload that leads to multi-organ failure. Although the most prevalent genotype in HH is homozygosity for C282Y muta...

    Authors: Marko Cukjati, Tomaž Vaupotič, Ruth Rupreht and Vladka Čurin-Šerbec

    Citation: BMC Medical Genetics 2007 8:69

    Content type: Research article

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  30. Sotos syndrome is an overgrowth syndrome characterized by macrocephaly, advanced bone age, characteristic facial features, and learning disabilities, caused by mutations or deletions of the NSD1 gene, located at ...

    Authors: Joseph D Buxbaum, Guiqing Cai, Gudrun Nygren, Pauline Chaste, Richard Delorme, Juliet Goldsmith, Maria Råstam, Jeremy M Silverman, Eric Hollander, Christopher Gillberg, Marion Leboyer and Catalina Betancur

    Citation: BMC Medical Genetics 2007 8:68

    Content type: Research article

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  31. Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is increasingly recognized as an inherited arterial disease leading to a step-wise decline and eventually to...

    Authors: Saeed Bohlega, Asmahan Al Shubili, Abdulrahman Edris, Abdulrahman Alreshaid, Thamer AlKhairallah, M Walid AlSous, Samir Farah and Khaled K Abu-Amero

    Citation: BMC Medical Genetics 2007 8:67

    Content type: Research article

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  32. The CHRM2 gene, located on the long arm of chromosome 7 (7q31-35), is involved in neuronal excitability, synaptic plasticity and feedback regulation of acetylcholine release, and has been implicated in higher cog...

    Authors: Florencia M Gosso, Eco JC de Geus, Tinca JC Polderman, Dorret I Boomsma, Danielle Posthuma and Peter Heutink

    Citation: BMC Medical Genetics 2007 8:66

    Content type: Research article

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  33. Mutations in genes encoding desmosomal proteins have been reported to cause arrhythmogenic right ventricular cardiomyopathy (ARVC), an autosomal dominant disease characterised by progressive myocardial atrophy...

    Authors: Giorgia Beffagna, Marzia De Bortoli, Andrea Nava, Michela Salamon, Alessandra Lorenzon, Manuela Zaccolo, Luisa Mancuso, Luca Sigalotti, Barbara Bauce, Gianluca Occhi, Cristina Basso, Gerolamo Lanfranchi, Jeffrey A Towbin, Gaetano Thiene, Gian Antonio Danieli and Alessandra Rampazzo

    Citation: BMC Medical Genetics 2007 8:65

    Content type: Research article

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  34. Mutations in methylmalonyl-CoA mutase cause methylmalonic acidemia, a common organic aciduria. Current treatment regimens rely on dietary management and, in severely affected patients, liver or combined liver-...

    Authors: Randy J Chandler, Jennifer Sloan, Hong Fu, Matthew Tsai, Sally Stabler, Robert Allen, Klaus H Kaestner, Haig H Kazazian and Charles P Venditti

    Citation: BMC Medical Genetics 2007 8:64

    Content type: Research article

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  35. 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 measu...

    Authors: Caroline S Fox, Nancy Heard-Costa, L Adrienne Cupples, Josée Dupuis, Ramachandran S Vasan and Larry D Atwood

    Citation: BMC Medical Genetics 2007 8(Suppl 1):S18

    Content type: Research

    Published on:

    This article is part of a Supplement: Volume 8 Supplement 1

  36. Susceptibility to type 2 diabetes may be conferred by genetic variants having modest effects on risk. Genome-wide fixed marker arrays offer a novel approach to detect these variants.

    Authors: James B Meigs, Alisa K Manning, Caroline S Fox, Jose C Florez, Chunyu Liu, L Adrienne Cupples and Josée Dupuis

    Citation: BMC Medical Genetics 2007 8(Suppl 1):S16

    Content type: Research

    Published on:

    This article is part of a Supplement: Volume 8 Supplement 1

  37. 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...

    Authors: Douglas P Kiel, Serkalem Demissie, Josée Dupuis, Kathryn L Lunetta, Joanne M Murabito and David Karasik

    Citation: BMC Medical Genetics 2007 8(Suppl 1):S14

    Content type: Research

    Published on:

    This article is part of a Supplement: Volume 8 Supplement 1

  38. Family studies and heritability estimates provide evidence for a genetic contribution to variation in the human life span.

    Authors: Kathryn L Lunetta, Ralph B D'Agostino Sr, David Karasik, Emelia J Benjamin, Chao-Yu Guo, Raju Govindaraju, Douglas P Kiel, Margaret Kelly-Hayes, Joseph M Massaro, Michael J Pencina, Sudha Seshadri and Joanne M Murabito

    Citation: BMC Medical Genetics 2007 8(Suppl 1):S13

    Content type: Research

    Published on:

    This article is part of a Supplement: Volume 8 Supplement 1

  39. Increased circulating levels of hemostatic factors as well as anemia have been associated with increased risk of cardiovascular disease (CVD). Known associations between hemostatic factors and sequence variant...

    Authors: Qiong Yang, Sekar Kathiresan, Jing-Ping Lin, Geoffrey H Tofler and Christopher J O'Donnell

    Citation: BMC Medical Genetics 2007 8(Suppl 1):S12

    Content type: Research

    Published on:

    This article is part of a Supplement: Volume 8 Supplement 1

  40. Systemic biomarkers provide insights into disease pathogenesis, diagnosis, and risk stratification. Many systemic biomarker concentrations are heritable phenotypes. Genome-wide association studies (GWAS) provi...

    Authors: Emelia J Benjamin, Josée Dupuis, Martin G Larson, Kathryn L Lunetta, Sarah L Booth, Diddahally R Govindaraju, Sekar Kathiresan, John F Keaney Jr, Michelle J Keyes, Jing-Ping Lin, James B Meigs, Sander J Robins, Jian Rong, Renate Schnabel, Joseph A Vita, Thomas J Wang…

    Citation: BMC Medical Genetics 2007 8(Suppl 1):S11

    Content type: Research

    Published on:

    This article is part of a Supplement: Volume 8 Supplement 1

  41. 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 asso...

    Authors: Shih-Jen Hwang, Qiong Yang, James B Meigs, Elizabeth N Pearce and Caroline S Fox

    Citation: BMC Medical Genetics 2007 8(Suppl 1):S10

    Content type: Research

    Published on:

    This article is part of a Supplement: Volume 8 Supplement 1

  42. 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 Offspr...

    Authors: Daniel J Gottlieb, George T O'Connor and Jemma B Wilk

    Citation: BMC Medical Genetics 2007 8(Suppl 1):S9

    Content type: Research

    Published on:

    This article is part of a Supplement: Volume 8 Supplement 1

  43. Heritable electrocardiographic (ECG) and heart rate variability (HRV) measures, reflecting pacemaking, conduction, repolarization and autonomic function in the heart have been associated with risks for cardiac...

    Authors: Christopher Newton-Cheh, Chao-Yu Guo, Thomas J Wang, Christopher J O'Donnell, Daniel Levy and Martin G Larson

    Citation: BMC Medical Genetics 2007 8(Suppl 1):S7

    Content type: Research

    Published on:

    This article is part of a Supplement: Volume 8 Supplement 1

  44. Cardiovascular disease (CVD) and its most common manifestations – including coronary heart disease (CHD), stroke, heart failure (HF), and atrial fibrillation (AF) – are major causes of morbidity and mortality....

    Authors: Martin G Larson, Larry D Atwood, Emelia J Benjamin, L Adrienne Cupples, Ralph B D'Agostino Sr, Caroline S Fox, Diddahally R Govindaraju, Chao-Yu Guo, Nancy L Heard-Costa, Shih-Jen Hwang, Joanne M Murabito, Christopher Newton-Cheh, Christopher J O'Donnell, Sudha Seshadri, Ramachandran S Vasan, Thomas J Wang…

    Citation: BMC Medical Genetics 2007 8(Suppl 1):S5

    Content type: Research

    Published on:

    This article is part of a Supplement: Volume 8 Supplement 1

  45. 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 stud...

    Authors: Christopher J O'Donnell, L Adrienne Cupples, Ralph B D'Agostino, Caroline S Fox, Udo Hoffmann, Shih-Jen Hwang, Erik Ingellson, Chunyu Liu, Joanne M Murabito, Joseph F Polak, Philip A Wolf and Serkalem Demissie

    Citation: BMC Medical Genetics 2007 8(Suppl 1):S4

    Content type: Research

    Published on:

    This article is part of a Supplement: Volume 8 Supplement 1

  46. About one quarter of adults are hypertensive and high blood pressure carries increased risk for heart disease, stroke, kidney disease and death. Increased arterial stiffness is a key factor in the pathogenesis...

    Authors: Daniel Levy, Martin G Larson, Emelia J Benjamin, Christopher Newton-Cheh, Thomas J Wang, Shih-Jen Hwang, Ramachandran S Vasan and Gary F Mitchell

    Citation: BMC Medical Genetics 2007 8(Suppl 1):S3

    Content type: Research

    Published on:

    This article is part of a Supplement: Volume 8 Supplement 1

  47. 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 cardiovasc...

    Authors: Ramachandran S Vasan, Martin G Larson, Jayashri Aragam, Thomas J Wang, Gary F Mitchell, Sekar Kathiresan, Christopher Newton-Cheh, Joseph A Vita, Michelle J Keyes, Christopher J O'Donnell, Daniel Levy and Emelia J Benjamin

    Citation: BMC Medical Genetics 2007 8(Suppl 1):S2

    Content type: Research

    Published on:

    This article is part of a Supplement: Volume 8 Supplement 1

  48. The Framingham Heart Study (FHS), founded in 1948 to examine the epidemiology of cardiovascular disease, is among the most comprehensively characterized multi-generational studies in the world. Many collected ...

    Authors: L Adrienne Cupples, Heather T Arruda, Emelia J Benjamin, Ralph B D'Agostino Sr, Serkalem Demissie, Anita L DeStefano, Josée Dupuis, Kathleen M Falls, Caroline S Fox, Daniel J Gottlieb, Diddahally R Govindaraju, Chao-Yu Guo, Nancy L Heard-Costa, Shih-Jen Hwang, Sekar Kathiresan, Douglas P Kiel…

    Citation: BMC Medical Genetics 2007 8(Suppl 1):S1

    Content type: Introduction

    Published on:

    This article is part of a Supplement: Volume 8 Supplement 1