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Genetic epidemiology and genetic associations

Section edited by Dan Rujescu and Danish Saleheen

This section considers studies of the statistical associations between genetic factors and disease states in families and populations, and the contribution of genetic factors to disease risk.

Page 5 of 10

  1. Visceral obesity and metabolic syndrome are commonly associated with non-alcoholic fatty liver disease (NAFLD). The progression of steatosis to NASH depends on a number of metabolic and patient-related factors...

    Authors: Rohini Mehta, Kianoush Jeiran, Aaron B. Koenig, Munkzhul Otgonsuren, Zachary Goodman, Ancha Baranova and Zobair Younossi

    Citation: BMC Medical Genetics 2016 17:63

    Content type: Research article

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  2. Platelet-derived growth factor (PDGF) D has been reported to be active in fibroblasts, and in areas of myocardial infarction. In this longitudinal study we evaluated the association between PDGF-D polymorphism...

    Authors: Urban Alehagen, Renate S. Olsen, Toste Länne, Andreas Matussek and Dick Wågsäter

    Citation: BMC Medical Genetics 2016 17:62

    Content type: Research article

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  3. The genetic basis of nonsyndromic familial nonmedullary thyroid cancer (FNMTC) is poorly understood. A recent study identified HABP2 as a tumor suppressor gene and identified a germline variant (G534E) in an exte...

    Authors: Alexia L. Weeks, Scott G. Wilson, Lynley Ward, Jack Goldblatt, Jennie Hui and John P. Walsh

    Citation: BMC Medical Genetics 2016 17:60

    Content type: Research article

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  4. Genetic studies on Acyl-CoA Synthetase Long-Chain 5 (ACSL5) demonstrate an association between rs2419621 genotype and rate of weight loss in women with obesity in response to caloric restriction. Our objective...

    Authors: Abishankari Rajkumar, Gilles Lamothe, Pierrette Bolongo, Mary-Ellen Harper, Kristi Adamo, Éric Doucet, Remi Rabasa-Lhoret, Denis Prud’homme and Frédérique Tesson

    Citation: BMC Medical Genetics 2016 17:56

    Content type: Research article

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  5. Chronic rhinosinusitis (CRS) is a frequent disease with high social impact and multifactorial pathogenesis. Recently, single nucleotide polymorphisms within the TAS2R38 gene have been implicated as possible contr...

    Authors: Stefania Gallo, Sarah Grossi, Giulia Montrasio, Giorgio Binelli, Raffaella Cinquetti, Daniel Simmen, Paolo Castelnuovo and Paola Campomenosi

    Citation: BMC Medical Genetics 2016 17:54

    Content type: Research article

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  6. Ischemic stroke is a life-threatening condition due to obstructed blood supply of the brain. Elevation of plasma C-reactive protein, an important inflammatory marker, was known to associate with increased risk...

    Authors: Haibin Shi, Song Leng, Hui Liang, Yan Zheng and Lidian Chen

    Citation: BMC Medical Genetics 2016 17:51

    Content type: Research article

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  7. X-chromosomal inheritance patterns and generally rare occurrence of Fabry disease (FD) account for mono-mutational hemizygous male and heterozygous female patients. Female mutation carriers are usually clinica...

    Authors: Daniel Oder, Dorothee Vergho, Georg Ertl, Christoph Wanner and Peter Nordbeck

    Citation: BMC Medical Genetics 2016 17:46

    Content type: Case report

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  8. Aortic aneurysms and/or dissection (AADs) in the aorta are a leading cause of human morbidity and mortality. To date, data on non-syndromic thoracic AADs (TAADs) have been mainly derived from Caucasians, and t...

    Authors: Tie Ke, Meng Han, Miao Zhao, Qing Kenneth Wang, Huazhi Zhang, Yuanyuan Zhao, Xinlong Ruan, Hui Li, Chengqi Xu and Tucheng Sun

    Citation: BMC Medical Genetics 2016 17:45

    Content type: Research article

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  9. DMBT1 is a gene that shows extensive copy number variation (CNV) that alters the number of bacteria-binding domains in the protein and has been shown to activate the complement pathway...

    Authors: Shamik Polley, Valentina Cipriani, Jane C. Khan, Humma Shahid, Anthony T. Moore, John R. W. Yates and Edward J. Hollox

    Citation: BMC Medical Genetics 2016 17:44

    Content type: Research article

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  10. Dengue hemorrhagic fever (DHF) is a severe life-threatening form of dengue infection. Low platelet count is one of the characteristic clinical manifestations in patients with severe dengue. However, little is ...

    Authors: Tran Ngoc Dang, Izumi Naka, Areerat Sa-Ngasang, Surapee Anantapreecha, Nuanjun Wichukchinda, Pathom Sawanpanyalert, Jintana Patarapotikul, Naoyuki Tsuchiya and Jun Ohashi

    Citation: BMC Medical Genetics 2016 17:43

    Content type: Research article

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  11. KCNH1 encodes a voltage-gated potassium channel that is predominantly expressed in the central nervous system. Mutations in this gene were recently found to be responsible for Temple-Baraitser Syndrome (TMBTS) an...

    Authors: André Mégarbané, Rashid Al-Ali, Nancy Choucair, Monko Lek, Ena Wang, Moncef Ladjimi, Catherine M. Rose, Remy Hobeika, Yvette Macary, Ramzi Temanni, Puthen V. Jithesh, Aouatef Chouchane, Konduru S Sastry, Remy Thomas, Sara Tomei, Wei Liu…

    Citation: BMC Medical Genetics 2016 17:42

    Content type: Research article

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  12. Mutations in the mitochondrial DNA (mtDNA) have been associated with aminoglycoside-induced and nonsyndromic deafness in different populations. In the present study, we investigated the contribution of mutatio...

    Authors: Rogério Marins Alves, Sueli Matilde da Silva Costa, Paulo Mauricio do Amôr Divino Miranda, Priscila Zonzini Ramos, Thiago Gibbin Marconi, Gisele Santos Oliveira, Arthur Menino Castilho and Edi Lúcia Sartorato

    Citation: BMC Medical Genetics 2016 17:41

    Content type: Research article

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  13. The silent information regulator SIR2/SIRT1gene has been demonstrated as regulating lifespan in many model organisms, including yeast, worms, fruit flies and rodents. SIRT1, the human homolog of SIR2, is consider...

    Authors: Rong Lin, Dongjing Yan, Yunxia Zhang, Xiaoping Liao, Gu Gong, Junjie Hu, Yunxin Fu and Wangwei Cai

    Citation: BMC Medical Genetics 2016 17:31

    Content type: Research article

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  14. Human prion diseases are relentlessly progressive neurodegenerative disorders which include sporadic Creutzfeldt-Jakob disease (sCJD) and variant CJD (vCJD). Aside from variants of the prion protein gene (PRNP) r...

    Authors: Rubika Balendra, James Uphill, Claire Collinson, Ronald Druyeh, Gary Adamson, Holger Hummerich, Inga Zerr, Pierluigi Gambetti, John Collinge and Simon Mead

    Citation: BMC Medical Genetics 2016 17:28

    Content type: Research article

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  15. Ulcerative colitis (UC), a complex polygenic disorder, is one of the main subphenotypes of inflammatory bowel disease. A comprehensive dissection of the genetic etiology of UC needs to assess the contribution ...

    Authors: Hamid Reza Saadati, Michael Wittig, Ingo Helbig, Robert Häsler, Carl A. Anderson, Christopher G. Mathew, Limas Kupcinskas, Miles Parkes, Tom Hemming Karlsen, Philip Rosenstiel, Stefan Schreiber and Andre Franke

    Citation: BMC Medical Genetics 2016 17:26

    Content type: Research article

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  16. Juvenile idiopathic arthritis (JIA) is the most common chronic rheumatic disease among children, the etiology of which involves a strong genetic component, but much of the underlying genetic determinants still...

    Authors: Terri H. Finkel, Jin Li, Zhi Wei, Wei Wang, Haitao Zhang, Edward M. Behrens, Emma L. Reuschel, Sophie Limou, Carol Wise, Marilynn Punaro, Mara L. Becker, Jane E. Munro, Berit Flatø, Øystein Førre, Susan D. Thompson, Carl D. Langefeld…

    Citation: BMC Medical Genetics 2016 17:24

    Content type: Research article

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  17. Plasma coagulation Factor XIIa (Hageman factor; encoded by F12) and kallikrein (KAL or Fletcher factor; encoded by KLKB1) are proteases of the kallikerin-kinin system involved in converting the inactive circulati...

    Authors: Nilima Biswas, Adam X. Maihofer, Saiful Anam Mir, Fangwen Rao, Kuixing Zhang, Srikrishna Khandrika, Manjula Mahata, Ryan S. Friese, C. Makena Hightower, Sushil K. Mahata, Dewleen G. Baker, Caroline M. Nievergelt, Sucheta M. Vaingankar and Daniel T. O’Connor

    Citation: BMC Medical Genetics 2016 17:21

    Content type: Research article

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  18. Mucopolysaccharidosis type I is an autosomal recessive disorder caused by deficiency of α-L-iduronidase and characterized by a progressive course with multisystem involvement. Clinically, Mucopolysaccharidosis...

    Authors: Orazio Gabrielli, Lorne A. Clarke, Anna Ficcadenti, Lucia Santoro, Lucia Zampini, Nicola Volpi and Giovanni V. Coppa

    Citation: BMC Medical Genetics 2016 17:19

    Content type: Case report

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  19. About 20 % of hereditary breast cancers are caused by mutations in BRCA1 and BRCA2 genes. Since BRCA1 and BRCA2 mutations may be spread throughout the gene, genetic testing is usually performed by direct sequenci...

    Authors: Giulia Cini, Massimo Mezzavilla, Lara Della Puppa, Elisa Cupelli, Alessio Fornasin, Angela Valentina D’Elia, Riccardo Dolcetti, Giuseppe Damante, Sara Bertok, Gianmaria Miolo, Roberta Maestro, Paolo de Paoli, Antonio Amoroso and Alessandra Viel

    Citation: BMC Medical Genetics 2016 17:11

    Content type: Research article

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  20. Large-scale genome-wide association studies have identified multiple genetic variants that are associated with elevated body mass index (BMI) or the risk of obesity in Caucasian or Asian populations. We examin...

    Authors: Hai-Jun Wang, Anke Hinney, Jie-Yun Song, André Scherag, Xiang-Rui Meng, Harald Grallert, Thomas Illig, Johannes Hebebrand, Yan Wang and Jun Ma

    Citation: BMC Medical Genetics 2016 17:7

    Content type: Research article

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  21. Multiple genetic variants have been reliably associated with obesity-related traits in Europeans, but little is known about their associations and interactions with lifestyle factors in South Asians.

    Authors: Shafqat Ahmad, Wei Zhao, Frida Renström, Asif Rasheed, Maria Samuel, Mozzam Zaidi, Nabi Shah, Nadeem Hayyat Mallick, Khan Shah Zaman, Mohammad Ishaq, Syed Zahed Rasheed, Fazal-ur-Rheman Memon, Bashir Hanif, Muhammad Shakir Lakhani, Faisal Ahmed, Shahana Urooj Kazmi…

    Citation: BMC Medical Genetics 2015 16:114

    Content type: Research article

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  22. Osteoarthritis (OA) is a painful, debilitating disease characterised by loss of articular cartilage with concurrent changes in other tissues of the synovial joint. Genetic association studies have shown that a...

    Authors: Colin Shepherd, Andrew J. Skelton, Michael D. Rushton, Louise N. Reynard and John Loughlin

    Citation: BMC Medical Genetics 2015 16:108

    Content type: Research article

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  23. Schizophrenia is a complex, polygenic disorder for which over 100 genetic variants have been identified that correlate with diagnosis. However, the biological mechanisms underpinning the different symptom clus...

    Authors: Charlotte Hellmich, Claire Durant, Matthew W. Jones, Nicholas J. Timpson, Ullrich Bartsch and Laura J. Corbin

    Citation: BMC Medical Genetics 2015 16:96

    Content type: Study protocol

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  24. Long QT syndrome (LQTS) is an autosomal dominant condition predisposing to sudden death from malignant arrhythmia. Genetic testing identifies many missense single nucleotide variants of uncertain pathogenicity...

    Authors: Ivone US Leong, Alexander Stuckey, Daniel Lai, Jonathan R Skinner and Donald R Love

    Citation: BMC Medical Genetics 2015 16:34

    Content type: Research article

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  25. Visual system homeobox gene (VSX1) plays a major role in the early development of craniofacial and ocular tissues including cone opsin gene in the human retina. To date, few disease-causing mutations of VSX1 have...

    Authors: Rohit Shetty, Rudy M.M.A. Nuijts, Soumya Ganesh Nanaiah, Venkata Ramana Anandula, Arkasubhra Ghosh, Chaitra Jayadev, Natasha Pahuja, Govindasamy Kumaramanickavel and Jeyabalan Nallathambi

    Citation: BMC Medical Genetics 2015 16:33

    Content type: Research article

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  26. Leptin (LEP) and adiponectin (ADIPOQ) genes encode adipokines that are mainly secreted by adipose tissues, involved in energy balance and suspected to play a role in the pathways linking adiposity to impaired glu...

    Authors: Andrée-Anne Houde, Cécilia Légaré, Simon Biron, Odette Lescelleur, Laurent Biertho, Simon Marceau, André Tchernof, Marie-Claude Vohl, Marie-France Hivert and Luigi Bouchard

    Citation: BMC Medical Genetics 2015 16:29

    Content type: Research article

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  27. A large number of single nucleotide polymorphisms (SNPs) associated with cervical cancer have been identified through candidate gene association studies and genome-wide association studies (GWAs). However, som...

    Authors: Shaoshuai Wang, Haiying Sun, Yao Jia, Fangxu Tang, Hang Zhou, Xiong Li, Jin Zhou, Kecheng Huang, Qinghua Zhang, Ting Hu, Ru Yang, Changyu Wang, Ling Xi, Dongrui Deng, Hui Wang, Shixuan Wang…

    Citation: BMC Medical Genetics 2015 16:25

    Content type: Research article

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  28. Specific germline mutations in the hereditary breast-ovarian cancer susceptibility (HBC/HBOC) genes, BRCA1, BRCA2 and PALB2, have been shown to recur in French Canadians of Quebec, Canada, and this has been at...

    Authors: Suzanna L Arcand, Mohammed R Akbari, Anne-Marie Mes-Masson, Diane Provencher, William D Foulkes, Steven A Narod and Patricia N Tonin

    Citation: BMC Medical Genetics 2015 16:24

    Content type: Research article

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  29. Transforming growth factor-β (TGF-β) plays an important role in regulating cellular functions, and many studies have demonstrated important roles for TGF-β in various cancers. Single nucleotide polymorphisms (...

    Authors: Yangwu Ren, Zhihua Yin, Kun Li, Yan Wan, Xuelian Li, Wei Wu, Peng Guan and Baosen Zhou

    Citation: BMC Medical Genetics 2015 16:22

    Content type: Research article

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  30. We investigated whether polymorphisms in the toll-like receptor genes or gene–gene interactions are associated with susceptibility to latent tuberculosis infection (LTBI) or subsequent pulmonary tuberculosis (...

    Authors: Linlin Wu, Yi Hu, Dange Li, Weili Jiang and Biao Xu

    Citation: BMC Medical Genetics 2015 16:19

    Content type: Research article

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  31. The variant rs11085226 (G) within the gene encoding polypyrimidine tract binding protein 1 (PTBP1) was reported to associate with reduced insulin release determined by an oral glucose tolerance test (OGTT) as wel...

    Authors: Tue H Hansen, Henrik Vestergaard, Torben Jørgensen, Marit Eika Jørgensen, Torsten Lauritzen, Ivan Brandslund, Cramer Christensen, Oluf Pedersen, Torben Hansen and Anette P Gjesing

    Citation: BMC Medical Genetics 2015 16:17

    Content type: Research article

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  32. The purpose of this study was to explore the effects of CYP2C19 gene polymorphisms and various environmental factors and their interactions on the risk of esophageal squamous cell carcinoma (ESCC) in a Chinese Ha...

    Authors: Xian-E Peng, Hua-Fang Chen, Zhi-Jian Hu and Xi-Shun Shi

    Citation: BMC Medical Genetics 2015 16:15

    Content type: Research article

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  33. Left ventricular hypertrophy (LVH) is a valid predictor for cardiovascular mortality and morbidity regardless of age, gender, and race. The HyperGEN study conducted a genome-wide association study and identifi...

    Authors: Jin-Kyu Park, Mi Kyung Kim, Bo Youl Choi, Yusun Jung, Kyuyoung Song, Yu Mi Kim and Jinho Shin

    Citation: BMC Medical Genetics 2015 16:13

    Content type: Research article

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  34. Polymorphisms of the CC chemokine receptor 6 (CCR6) and RNASET2 tag SNP have been shown to be associated with the susceptibility to several immune-related diseases. This study was conducted to identify the ass...

    Authors: Xiao-jun Chen, Xiao-hua Gong, Ni Yan, Shuai Meng, Qiu Qin, Yan-Fei Jiang, Hai-Yan Zheng and Jin-an Zhang

    Citation: BMC Medical Genetics 2015 16:11

    Content type: Research article

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  35. Common genetic variants residing near upstream regulatory elements for MYB, the gene encoding transcription factor cMYB, promote the persistence of fetal hemoglobin (HbF) into adulthood. While they have no conseq...

    Authors: Siana N Mtatiro, Josephine Mgaya, Tarjinder Singh, Harvest Mariki, Helen Rooks, Deogratius Soka, Bruno Mmbando, Swee Lay Thein, Jeffrey C Barrett, Julie Makani, Sharon E Cox and Stephan Menzel

    Citation: BMC Medical Genetics 2015 16:4

    Content type: Research article

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  36. Chromosome 9p21 variants are associated with cardiovascular disease (CVD) but not with any of its known risk markers. However, recent studies have suggested that the risk associated with 9p21 variation is modi...

    Authors: George Hindy, Ulrika Ericson, Viktor Hamrefors, Isabel Drake, Elisabet Wirfält, Olle Melander and Marju Orho-Melander

    Citation: BMC Medical Genetics 2014 15:1220

    Content type: Research article

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  37. Besides serum levels of PSA, there is a lack of prostate cancer specific biomarkers. It is need to develop new biological markers associated with the tumor behavior which would be valuable to better individual...

    Authors: Luis Alberto Henríquez-Hernández, Almudena Valenciano, Palmira Foro-Arnalot, María Jesús Álvarez-Cubero, José Manuel Cozar, José Francisco Suárez-Novo, Manel Castells-Esteve, Pablo Fernández-Gonzalo, Belén De-Paula-Carranza, Montse Ferrer, Ferrán Guedea, Gemma Sancho-Pardo, Jordi Craven-Bartle, María José Ortiz-Gordillo, Patricia Cabrera-Roldán, Estefanía Herrera-Ramos…

    Citation: BMC Medical Genetics 2014 15:143

    Content type: Research article

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  38. Recent genome-wide association studies have identified multiple loci that are associated with an increased risk of developing coronary artery disease (CAD). The impact of these loci on the disease severity and...

    Authors: Vincent G Haver, Niek Verweij, John Kjekshus, Jayne C Fox, Hans Wedel, John Wikstrand, Wiek H van Gilst, Rudolf A de Boer, Dirk J van Veldhuisen and Pim van der Harst

    Citation: BMC Medical Genetics 2014 15:140

    Content type: Research article

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  39. Mexican Americans, particularly those born in the United States, are at greater risk for alcohol associated morbidity and mortality. The present study sought to investigate whether specific genetic variants ma...

    Authors: Trina M Norden-Krichmar, Ian R Gizer, Kirk C Wilhelmsen, Nicholas J Schork and Cindy L Ehlers

    Citation: BMC Medical Genetics 2014 15:136

    Content type: Research article

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  40. Epidemiological studies have suggested that variants on adiponectin (ADIPOQ) and its receptor ADIPOR1 (adiponectin receptor 1) are associated with colorectal cancer (CRC) risk; however, the results were inconc...

    Authors: Yiyi Ou, Peizhan Chen, Ziyuan Zhou, Chenglin Li, Jinyi Liu, Kazuo Tajima, Junsheng Guo, Jia Cao and Hui Wang

    Citation: BMC Medical Genetics 2014 15:137

    Content type: Research article

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  41. The transcription factor Nrf2, encoded by the NFE2L2 gene, is an important regulator of the cellular protection against oxidative stress. Parkinson’s disease is a neurodegenerative disease highly associated with ...

    Authors: Malin von Otter, Petra Bergström, Aldo Quattrone, Elvira Valeria De Marco, Grazia Annesi, Peter Söderkvist, Stephanie Bezzina Wettinger, Marek Drozdzik, Monika Bialecka, Hans Nissbrandt, Christine Klein, Michael Nilsson, Ola Hammarsten, Staffan Nilsson and Henrik Zetterberg

    Citation: BMC Medical Genetics 2014 15:131

    Content type: Research article

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  42. MicroRNAs (miRNAs) are a family of endogenous, small and non-coding RNAs that regulate gene expression negatively at the post-transcriptional level by suppressing translation or degrading target mRNAs, and are...

    Authors: Chen Chen, Shenglan Yang, Sandip Chaugai, Yan Wang and Dao Wen Wang

    Citation: BMC Medical Genetics 2014 15:126

    Content type: Research article

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  43. Sepsis is now the leading cause of death in the non-cardiovascular intensive care unit (ICU). Recent research suggests that sepsis is likely to be due to an interaction between genetic and environmental factor...

    Authors: Haiyan Wang, Yesheng Wei, Yi Zeng, Yueqiu Qin, Bin Xiong, Gang Qin, Jun Li, Donghai Hu, Xiaowen Qiu, Suren R Sooranna and Liao Pinhu

    Citation: BMC Medical Genetics 2014 15:123

    Content type: Research article

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  44. Left ventricular (LV) function depends on the activity of transmembrane electrolyte transporters. Failing human myocardium has lower Na+/K+ ATPase expression and higher intracellular sodium concentrations. The AT...

    Authors: Judita Knez, Erika Salvi, Valérie Tikhonoff, Katarzyna Stolarz-Skrzypek, Andrew Ryabikov, Lutgarde Thijs, Daniele Braga, Malgorzata Kloch-Badelek, Sofia Malyutina, Edoardo Casiglia, Danuta Czarnecka, Kalina Kawecka-Jaszcz, Daniele Cusi, Tim Nawrot, Jan A Staessen and Tatiana Kuznetsova

    Citation: BMC Medical Genetics 2014 15:121

    Content type: Research article

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  45. Bronchopulmonary dysplasia (BPD) is a common chronic lung disease associated with very preterm birth. The major risk factors include lung inflammation and lung immaturity. In addition, genetic factors play an ...

    Authors: Johanna M Huusko, Minna K Karjalainen, Mari Mahlman, Ritva Haataja, M Anneli Kari, Sture Andersson, Gergely Toldi, Outi Tammela, Mika Rämet, Pascal M Lavoie and Mikko Hallman

    Citation: BMC Medical Genetics 2014 15:120

    Content type: Research article

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  46. Recent randomized controlled trials have challenged the concept that increased high density lipoprotein cholesterol (HDL-C) levels are associated with coronary artery disease (CAD) risk reduction. The causal r...

    Authors: Zhijun Wu, Yuqing Lou, Xiaochun Qiu, Yan Liu, Lin Lu, Qiujing Chen and Wei Jin

    Citation: BMC Medical Genetics 2014 15:118

    Content type: Research article

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  47. Splenic epidermoid cyst is a benign tumor-like lesion affecting the spleen and sometimes occurs in familial form. The causality of such rare diseases remain challenging, however recently, with the emergence of...

    Authors: Waleed H Omer, Akira Narita, Kazuyoshi Hosomichi, Shigeki Mitsunaga, Yasuhiro Hayashi, Atsushi Yamashita, Avdyl Krasniqi, Yuri Iwasaki, Masami Kimura and Ituro Inoue

    Citation: BMC Medical Genetics 2014 15:115

    Content type: Research article

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  48. Survival in follicular lymphoma (FL) is highly variable, even within prognostic groups defined by tumor grade and the Follicular Lymphoma International Prognostic Index. Studies suggest that germline single nu...

    Authors: Fredrik Baecklund, Jia-Nee Foo, Paige Bracci, Hatef Darabi, Robert Karlsson, Henrik Hjalgrim, Richard Rosenquist, Hans-Olov Adami, Bengt Glimelius, Mads Melbye, Lucia Conde, Jianjun Liu, Keith Humphreys, Christine F Skibola and Karin E Smedby

    Citation: BMC Medical Genetics 2014 15:113

    Content type: Research article

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