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		Research article Risk interaction of obesity, insulin resistance and hormone-sensitive lipase promoter polymorphisms (LIPE-60 C > G) in the development of fatty liver Pi-Jung Hsiao, Zhih-Cherg Chen, Wei-Wen Hung, Yi-Hsin Connie Yang, Mei-Yueh Lee, Jee-Fu Huang, Kung-Kai Kuo BMC Medical Genetics 2013, 14:54 (20 May 2013) Abstract \| Provisional PDF
		Research article Polymorphisms in FGF12, VCL, CX43 and VAX1 in Brazilian patients with nonsyndromic cleft lip with or without cleft palate Sibele Nascimento de Aquino, Ana Camila Messetti, Elizabete Bagordakis, Hercílio Martelli-Júnior, Mario Sergio Swerts, Edgard Graner, Ricardo D Coletta BMC Medical Genetics 2013, 14:53 (16 May 2013) Abstract \| Provisional PDF \| PubMed
		Research article Evaluation of the IL2/IL21, IL2RA and IL2RB genetic variants influence on the endogenous non-anterior uveitis genetic predisposition María Cénit, Ana Márquez, Miguel Cordero-Coma, Alejandro Fonollosa, Alfredo Adán, Agustín Martínez-Berriotxoa, Victor Llorenç, David Díaz Valle, Ricardo Blanco, Joaquín Cañal, Manuel Díaz-Llopis, José García Serrano, Enrique de Ramón, María del Rio, Marina Begoña Gorroño- Echebarría, José Martín-Villa, Norberto Ortego-Centeno, Javier Martín BMC Medical Genetics 2013, 14:52 (15 May 2013) Abstract \| Full text \| PDF \| PubMed
		Research article Investigating highly replicated asthma genes as candidate genes for allergic rhinitis Anand Kumar Andiappan, Daniel Nilsson, Christer Halldén, Wang De Yun, Torbjörn Säll, Lars Olaf Cardell, Chew Fook Tim BMC Medical Genetics 2013, 14:51 (10 May 2013) Abstract \| Full text \| PDF \| ePUB \| PubMed
		Case report The clinical impact of chromosomal rearrangements with breakpoints upstream of the SOX9 gene: two novel de novo balanced translocations associated with acampomelic campomelic dysplasia Ana Carolina S Fonseca, Adriano Bonaldi, Débora R Bertola, Chong A Kim, Paulo A Otto, Angela M Vianna-Morgante BMC Medical Genetics 2013, 14:50 (7 May 2013) Abstract \| Full text \| PDF \| PubMed
		Case report Deletion Xq27.3q28 in female patient with global developmental delays and skewed X-inactivation Lauren S Marshall, Julie Simon, Tim Wood, Mei Peng, Renius Owen, Gary S Feldman, Michael V Zaragoza BMC Medical Genetics 2013, 14:49 (1 May 2013) Abstract \| Full text \| PDF \| ePUB \| PubMed
		Case report Deletions within COL11A1 in Type 2 stickler syndrome detected by multiplex ligation-dependent probe amplification (MLPA) Raymon Vijzelaar, Sarah Waller, Abdellatif Errami, Alan Donaldson, Teresa Lourenco, Marcia Rodrigues, Vivienne McConnell, Gregory Fincham, Martin Snead, Allan Richards BMC Medical Genetics 2013, 14:48 (26 April 2013) Abstract \| Full text \| PDF \| ePUB \| PubMed
		Research article Genetic variants of MARCO are associated with susceptibility to pulmonary tuberculosis in a Gambian population Dawn ME Bowdish, Kaori Sakamoto, Nathan A Lack, Philip C Hill, Giorgio Sirugo, Melanie J Newport, Siamon Gordon, Adrian VS Hill, Fredrick O Vannberg BMC Medical Genetics 2013, 14:47 (23 April 2013) Abstract \| Full text \| PDF \| ePUB \| PubMed
		Research article The associations between the polymorphisms in the CTLA-4 gene and the risk of Graves’ disease in the Chinese population Liang Du, Jiqiao Yang, Jichong Huang, Yaxian Ma, Haichuan Wang, Tianyuan Xiong, Zhangpeng Xiang, Yonggang Zhang, Jin Huang BMC Medical Genetics 2013, 14:46 (19 April 2013) Abstract \| Full text \| PDF \| ePUB \| PubMed
		Research article Discontinuous microduplications at chromosome 10q24.31 identified in a Chinese family with split hand and foot malformation Li Dai, Ying Deng, Nana Li, Liang Xie, Meng Mao, Jun Zhu BMC Medical Genetics 2013, 14:45 (18 April 2013) Abstract \| Full text \| PDF \| ePUB \| PubMed
		Research article Sequencing of NOTCH1, GATA5, TGFBR1 and TGFBR2 genes in familial cases of bicuspid aortic valve Ilenia Foffa, Lamia Ait Alì, Paola Panesi, Massimiliano Mariani, Pierluigi Festa, Nicoletta Botto, Cecilia Vecoli, Maria Grazia Andreassi BMC Medical Genetics 2013, 14:44 (11 April 2013) Abstract \| Full text \| PDF \| ePUB \| PubMed
		Research article Parent of origin influences the cardiac expression of vascular endothelial growth factor (Vegfa) Christine L Chiu, Chloe T Morgan, Samantha J Lupton, Joanne M Lind BMC Medical Genetics 2013, 14:43 (5 April 2013) Abstract \| Full text \| PDF \| ePUB \| PubMed
		Case report Disruption of AP3B1 by a chromosome 5 inversion: a new disease mechanism in Hermansky-Pudlak syndrome type 2 Matthew L Jones, Sherina L Murden, Claire Brooks, Viv Maloney, Richard A Manning, Kimberly C Gilmour, Vandana Bharadwaj, Josu de la Fuente, Subarna Chakravorty, Andrew D Mumford BMC Medical Genetics 2013, 14:42 (4 April 2013) Abstract \| Provisional PDF \| PubMed
		Research article Genomic imbalances in patients with a clinical presentation in the spectrum of Cornelia de Lange syndrome Cristina Gervasini, Chiara Picinelli, Jacopo Azzollini, Daniela Rusconi, Maura Masciadri, Anna Cereda, Cinzia Marzocchi, Giuseppe Zampino, Angelo Selicorni, Romano Tenconi, Silvia Russo, Lidia Larizza, Palma Finelli BMC Medical Genetics 2013, 14:41 (3 April 2013) Abstract \| Full text \| PDF \| ePUB \| PubMed
		Research article Association between UCP2 A55V polymorphism and risk of cardiovascular events in patients with multi-vessel coronary arterial disease Luciana Gioli-Pereira, Paulo CJL Santos, Luisa S Sugaya, Noely E Ferreira, José Eduardo Krieger, Alexandre C Pereira, Whady A Hueb BMC Medical Genetics 2013, 14:40 (27 March 2013) Abstract \| Full text \| PDF \| ePUB \| PubMed
		Research article Genome-wide methylation profiling of the bronchial mucosa of asthmatics: relationship to atopy Yoon-Jeong Kim, Sung-Woo Park, Tae-Hoon Kim, Jong-Sook Park, Hyun Sub Cheong, Hyoung Doo Shin, Choon-Sik Park BMC Medical Genetics 2013, 14:39 (24 March 2013) Abstract \| Full text \| PDF \| ePUB \| PubMed
		Research article Pedigree and genotyping quality analyses of over 10,000 DNA samples from the Generation Scotland: Scottish Family Health Study Shona M Kerr, Archie Campbell, Lee Murphy, Caroline Hayward, Cathy Jackson, Louise V Wain, Martin D Tobin, Anna Dominiczak, Andrew Morris, Blair H Smith, David J Porteous BMC Medical Genetics 2013, 14:38 (22 March 2013) Abstract \| Full text \| PDF \| ePUB \| PubMed
		Research article A combined targeted mutation analysis of IRF6 gene would be useful in the first screening of oral facial clefts Yah-Huei Wu-Chou, Lun-Jou Lo, Kuo-Ting Philip Chen, Chun-Shin Frank Chang, Yu-Ray Chen BMC Medical Genetics 2013, 14:37 (20 March 2013) Abstract \| Full text \| PDF \| ePUB \| PubMed
		Research article A genome-wide search for common SNP x SNP interactions on the risk of venous thrombosis Nicolas Greliche, Marine Germain, Jean-Charles Lambert, William Cohen, Marion Bertrand, Anne-Marie Dupuis, Luc Letenneur, Mark Lathrop, Philippe Amouyel, Pierre-Emmanuel Morange, David-Alexandre Trégouët BMC Medical Genetics 2013, 14:36 (20 March 2013) Abstract \| Full text \| PDF \| ePUB \| PubMed
		Research article The CARD8 p.C10X mutation associates with a low anti-glycans antibody response in patients with Crohn’s disease Francis Vasseur, Boualem Sendid, Franck Broly, Corinne Gower-Rousseau, Aurore Sarazin, Annie Standaert-Vitse, Jean-Frederic Colombel, Daniel Poulain, Thierry Jouault BMC Medical Genetics 2013, 14:35 (18 March 2013) Abstract \| Full text \| PDF \| ePUB \| PubMed
		Research article Association between a frequent variant of the FTO gene and anthropometric phenotypes in Brazilian children Carmela Farias da Silva, Marília Remuzzi Zandoná, Márcia Regina Vitolo, Paula Dal Campagnolo, Liane Nanci Rotta, Silvana Almeida, Vanessa Suñé Mattevi BMC Medical Genetics 2013, 14:34 (13 March 2013) Abstract \| Provisional PDF \| PubMed
		Research article Schizophrenia susceptibility and NMDA-receptor mediated signalling: an association study involving 32 tagSNPs of DAO, DAOA, PPP3CC, and DTNBP1 genes Emilio Sacchetti, Catia Scassellati, Alessandra Minelli, Paolo Valsecchi, Cristian Bonvicini, Patrizio Pasqualetti, Alessandro Galluzzo, Rosaria Pioli, Massimo Gennarelli BMC Medical Genetics 2013, 14:33 (9 March 2013) Abstract \| Full text \| PDF \| PubMed
		Research article Mutation spectrum in human colorectal cancers and potential functional relevance Hongzhuan Yin, Yichao Liang, Zhaopeng Yan, Baolin Liu, Qi Su BMC Medical Genetics 2013, 14:32 (8 March 2013) Abstract \| Full text \| PDF \| PubMed
		Reviewer acknowledgement Annual acknowledgement of reviewers Tim Sands BMC Medical Genetics 2013, 14:22 (7 March 2013) Abstract \| Full text \| PDF \| PubMed
		Research article NQO1 C609T polymorphism and esophageal cancer risk: a HuGE review and meta-analysis Hu Yanling, Zhang Yuhong, He Wenwu, Xian Lei, Chen Mingwu BMC Medical Genetics 2013, 14:31 (5 March 2013) Abstract \| Full text \| PDF \| PubMed

	All
		Research article Risk interaction of obesity, insulin resistance and hormone-sensitive lipase promoter polymorphisms (LIPE-60 C > G) in the development of fatty liver Pi-Jung Hsiao, Zhih-Cherg Chen, Wei-Wen Hung, Yi-Hsin Connie Yang, Mei-Yueh Lee, Jee-Fu Huang, Kung-Kai Kuo BMC Medical Genetics 2013, 14:54 (20 May 2013) Abstract \| Provisional PDF
		Research article Polymorphisms in FGF12, VCL, CX43 and VAX1 in Brazilian patients with nonsyndromic cleft lip with or without cleft palate Sibele Nascimento de Aquino, Ana Camila Messetti, Elizabete Bagordakis, Hercílio Martelli-Júnior, Mario Sergio Swerts, Edgard Graner, Ricardo D Coletta BMC Medical Genetics 2013, 14:53 (16 May 2013) Abstract \| Provisional PDF \| PubMed
		Research article Evaluation of the IL2/IL21, IL2RA and IL2RB genetic variants influence on the endogenous non-anterior uveitis genetic predisposition María Cénit, Ana Márquez, Miguel Cordero-Coma, Alejandro Fonollosa, Alfredo Adán, Agustín Martínez-Berriotxoa, Victor Llorenç, David Díaz Valle, Ricardo Blanco, Joaquín Cañal, Manuel Díaz-Llopis, José García Serrano, Enrique de Ramón, María del Rio, Marina Begoña Gorroño- Echebarría, José Martín-Villa, Norberto Ortego-Centeno, Javier Martín BMC Medical Genetics 2013, 14:52 (15 May 2013) Abstract \| Full text \| PDF \| PubMed
		Research article Investigating highly replicated asthma genes as candidate genes for allergic rhinitis Anand Kumar Andiappan, Daniel Nilsson, Christer Halldén, Wang De Yun, Torbjörn Säll, Lars Olaf Cardell, Chew Fook Tim BMC Medical Genetics 2013, 14:51 (10 May 2013) Abstract \| Full text \| PDF \| ePUB \| PubMed
		Case report The clinical impact of chromosomal rearrangements with breakpoints upstream of the SOX9 gene: two novel de novo balanced translocations associated with acampomelic campomelic dysplasia Ana Carolina S Fonseca, Adriano Bonaldi, Débora R Bertola, Chong A Kim, Paulo A Otto, Angela M Vianna-Morgante BMC Medical Genetics 2013, 14:50 (7 May 2013) Abstract \| Full text \| PDF \| PubMed
		Case report Deletion Xq27.3q28 in female patient with global developmental delays and skewed X-inactivation Lauren S Marshall, Julie Simon, Tim Wood, Mei Peng, Renius Owen, Gary S Feldman, Michael V Zaragoza BMC Medical Genetics 2013, 14:49 (1 May 2013) Abstract \| Full text \| PDF \| ePUB \| PubMed
		Case report Deletions within COL11A1 in Type 2 stickler syndrome detected by multiplex ligation-dependent probe amplification (MLPA) Raymon Vijzelaar, Sarah Waller, Abdellatif Errami, Alan Donaldson, Teresa Lourenco, Marcia Rodrigues, Vivienne McConnell, Gregory Fincham, Martin Snead, Allan Richards BMC Medical Genetics 2013, 14:48 (26 April 2013) Abstract \| Full text \| PDF \| ePUB \| PubMed
		Research article Genetic variants of MARCO are associated with susceptibility to pulmonary tuberculosis in a Gambian population Dawn ME Bowdish, Kaori Sakamoto, Nathan A Lack, Philip C Hill, Giorgio Sirugo, Melanie J Newport, Siamon Gordon, Adrian VS Hill, Fredrick O Vannberg BMC Medical Genetics 2013, 14:47 (23 April 2013) Abstract \| Full text \| PDF \| ePUB \| PubMed
		Research article The associations between the polymorphisms in the CTLA-4 gene and the risk of Graves’ disease in the Chinese population Liang Du, Jiqiao Yang, Jichong Huang, Yaxian Ma, Haichuan Wang, Tianyuan Xiong, Zhangpeng Xiang, Yonggang Zhang, Jin Huang BMC Medical Genetics 2013, 14:46 (19 April 2013) Abstract \| Full text \| PDF \| ePUB \| PubMed
		Research article Discontinuous microduplications at chromosome 10q24.31 identified in a Chinese family with split hand and foot malformation Li Dai, Ying Deng, Nana Li, Liang Xie, Meng Mao, Jun Zhu BMC Medical Genetics 2013, 14:45 (18 April 2013) Abstract \| Full text \| PDF \| ePUB \| PubMed
		Research article Sequencing of NOTCH1, GATA5, TGFBR1 and TGFBR2 genes in familial cases of bicuspid aortic valve Ilenia Foffa, Lamia Ait Alì, Paola Panesi, Massimiliano Mariani, Pierluigi Festa, Nicoletta Botto, Cecilia Vecoli, Maria Grazia Andreassi BMC Medical Genetics 2013, 14:44 (11 April 2013) Abstract \| Full text \| PDF \| ePUB \| PubMed
		Research article Parent of origin influences the cardiac expression of vascular endothelial growth factor (Vegfa) Christine L Chiu, Chloe T Morgan, Samantha J Lupton, Joanne M Lind BMC Medical Genetics 2013, 14:43 (5 April 2013) Abstract \| Full text \| PDF \| ePUB \| PubMed
		Case report Disruption of AP3B1 by a chromosome 5 inversion: a new disease mechanism in Hermansky-Pudlak syndrome type 2 Matthew L Jones, Sherina L Murden, Claire Brooks, Viv Maloney, Richard A Manning, Kimberly C Gilmour, Vandana Bharadwaj, Josu de la Fuente, Subarna Chakravorty, Andrew D Mumford BMC Medical Genetics 2013, 14:42 (4 April 2013) Abstract \| Provisional PDF \| PubMed
		Research article Genomic imbalances in patients with a clinical presentation in the spectrum of Cornelia de Lange syndrome Cristina Gervasini, Chiara Picinelli, Jacopo Azzollini, Daniela Rusconi, Maura Masciadri, Anna Cereda, Cinzia Marzocchi, Giuseppe Zampino, Angelo Selicorni, Romano Tenconi, Silvia Russo, Lidia Larizza, Palma Finelli BMC Medical Genetics 2013, 14:41 (3 April 2013) Abstract \| Full text \| PDF \| ePUB \| PubMed
		Research article Association between UCP2 A55V polymorphism and risk of cardiovascular events in patients with multi-vessel coronary arterial disease Luciana Gioli-Pereira, Paulo CJL Santos, Luisa S Sugaya, Noely E Ferreira, José Eduardo Krieger, Alexandre C Pereira, Whady A Hueb BMC Medical Genetics 2013, 14:40 (27 March 2013) Abstract \| Full text \| PDF \| ePUB \| PubMed
		Research article Genome-wide methylation profiling of the bronchial mucosa of asthmatics: relationship to atopy Yoon-Jeong Kim, Sung-Woo Park, Tae-Hoon Kim, Jong-Sook Park, Hyun Sub Cheong, Hyoung Doo Shin, Choon-Sik Park BMC Medical Genetics 2013, 14:39 (24 March 2013) Abstract \| Full text \| PDF \| ePUB \| PubMed
		Research article Pedigree and genotyping quality analyses of over 10,000 DNA samples from the Generation Scotland: Scottish Family Health Study Shona M Kerr, Archie Campbell, Lee Murphy, Caroline Hayward, Cathy Jackson, Louise V Wain, Martin D Tobin, Anna Dominiczak, Andrew Morris, Blair H Smith, David J Porteous BMC Medical Genetics 2013, 14:38 (22 March 2013) Abstract \| Full text \| PDF \| ePUB \| PubMed
		Research article A combined targeted mutation analysis of IRF6 gene would be useful in the first screening of oral facial clefts Yah-Huei Wu-Chou, Lun-Jou Lo, Kuo-Ting Philip Chen, Chun-Shin Frank Chang, Yu-Ray Chen BMC Medical Genetics 2013, 14:37 (20 March 2013) Abstract \| Full text \| PDF \| ePUB \| PubMed
		Research article A genome-wide search for common SNP x SNP interactions on the risk of venous thrombosis Nicolas Greliche, Marine Germain, Jean-Charles Lambert, William Cohen, Marion Bertrand, Anne-Marie Dupuis, Luc Letenneur, Mark Lathrop, Philippe Amouyel, Pierre-Emmanuel Morange, David-Alexandre Trégouët BMC Medical Genetics 2013, 14:36 (20 March 2013) Abstract \| Full text \| PDF \| ePUB \| PubMed
		Research article The CARD8 p.C10X mutation associates with a low anti-glycans antibody response in patients with Crohn’s disease Francis Vasseur, Boualem Sendid, Franck Broly, Corinne Gower-Rousseau, Aurore Sarazin, Annie Standaert-Vitse, Jean-Frederic Colombel, Daniel Poulain, Thierry Jouault BMC Medical Genetics 2013, 14:35 (18 March 2013) Abstract \| Full text \| PDF \| ePUB \| PubMed
		Research article Association between a frequent variant of the FTO gene and anthropometric phenotypes in Brazilian children Carmela Farias da Silva, Marília Remuzzi Zandoná, Márcia Regina Vitolo, Paula Dal Campagnolo, Liane Nanci Rotta, Silvana Almeida, Vanessa Suñé Mattevi BMC Medical Genetics 2013, 14:34 (13 March 2013) Abstract \| Provisional PDF \| PubMed
		Research article Schizophrenia susceptibility and NMDA-receptor mediated signalling: an association study involving 32 tagSNPs of DAO, DAOA, PPP3CC, and DTNBP1 genes Emilio Sacchetti, Catia Scassellati, Alessandra Minelli, Paolo Valsecchi, Cristian Bonvicini, Patrizio Pasqualetti, Alessandro Galluzzo, Rosaria Pioli, Massimo Gennarelli BMC Medical Genetics 2013, 14:33 (9 March 2013) Abstract \| Full text \| PDF \| PubMed
		Research article Mutation spectrum in human colorectal cancers and potential functional relevance Hongzhuan Yin, Yichao Liang, Zhaopeng Yan, Baolin Liu, Qi Su BMC Medical Genetics 2013, 14:32 (8 March 2013) Abstract \| Full text \| PDF \| PubMed
		Reviewer acknowledgement Annual acknowledgement of reviewers Tim Sands BMC Medical Genetics 2013, 14:22 (7 March 2013) Abstract \| Full text \| PDF \| PubMed
		Research article NQO1 C609T polymorphism and esophageal cancer risk: a HuGE review and meta-analysis Hu Yanling, Zhang Yuhong, He Wenwu, Xian Lei, Chen Mingwu BMC Medical Genetics 2013, 14:31 (5 March 2013) Abstract \| Full text \| PDF \| PubMed