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		Research article MLPA-based genotype--phenotype analysis in 1053 Chinese patients with DMD/BMD Juan Yang, Shao Y Li, Ya Q Li, Ji Q Cao, Shan W Feng, Yan Y Wang, Yi X Zhan, Chang S Yu, Fei Chen, Jing Li, Xiao F Sun, Cheng Zhang BMC Medical Genetics 2013, 14:29 (1 March 2013) Abstract \| Provisional PDF
		Case report Novel cAMP binding protein-BP (CREBBP) mutation in a girl with Rubinstein-Taybi syndrome, GH deficiency, Arnold Chiari malformation and pituitary hypoplasia Pierluigi Marzuillo, Anna Grandone, Ruggero Coppola, Domenico Cozzolino, Adalgisa Festa, Federica Messa, Caterina Luongo, Emanuele Miraglia del Giudice, Laura Perrone BMC Medical Genetics 2013, 14:28 (23 February 2013) Abstract \| Provisional PDF \| PubMed
		Research article Allele-specific polymerase chain reaction for the detection of Alzheimer's disease-related single nucleotide polymorphisms Mohd Nazif Darawi, Chin Ai-Vyrn, Kalavathy Ramasamy, Philip Poi Hua, Tan Maw Pin, Shahrul Bahyah Kamaruzzaman, Abu Bakar Majeed BMC Medical Genetics 2013, 14:27 (19 February 2013) Abstract \| Provisional PDF \| PubMed
		Research article Serum 25-hydroxyvitamin D3 levels and vitamin D receptor variants in melanoma patients from the Mediterranean area of Barcelona: 25-hydroxyvitamin D3 levels and VDR variants in melanoma patients from Barcelona Zighereda Ogbah, Laura Visa, Celia Badenas, José Ríos, Joan Anton Puig-Butille, Nuria Bonifaci, Elisabet Guino, Josep Maria Augé, Isabel Kolm, Cristina Carrera, Miquel Ángel Pujana, Josep Malvehy, Susana Puig BMC Medical Genetics 2013, 14:26 (16 February 2013) Abstract \| Provisional PDF \| PubMed
		Study protocol Study design of DIACORE (DIAbetes COhoRtE) – a cohort study of patients with diabetes mellitus type 2 Lena Dörhöfer, Alexander Lammert, Vera Krane, Mathias Gorski, Bernhard Banas, Christoph Wanner, Bernhard K Krämer, Iris M Heid, Carsten A Böger, for the DIACORE Study Group BMC Medical Genetics 2013, 14:25 (14 February 2013) Abstract \| Full text \| PDF \| PubMed
		Technical advance Newborn screening for citrin deficiency and carnitine uptake defect using second-tier molecular tests Li-Yun Wang, Nien-I Chen, Pin-Wen Chen, Shu-Chuan Chiang, Wuh-Liang Hwu, Ni-Chung Lee, Yin-Hsiu Chien BMC Medical Genetics 2013, 14:24 (10 February 2013) Abstract \| Full text \| PDF \| PubMed
		Research article Risk loci for coronary artery calcification replicated at 9p21 and 6q24 in the Heinz Nixdorf Recall Study Sonali Pechlivanis, Thomas W Mühleisen, Stefan Möhlenkamp, Dirk Schadendorf, Raimund Erbel, Karl-Heinz Jöckel, Per Hoffmann, Markus M Nöthen, André Scherag, Susanne Moebus, for the Heinz Nixdorf Recall Study Investigative Group BMC Medical Genetics 2013, 14:23 (8 February 2013) Abstract \| Full text \| PDF \| PubMed
		Research article Analysis of the contribution of FTO, NPC1, ENPP1, NEGR1, GNPDA2 and MC4R genes to obesity in Mexican children Aurora Mejía-Benítez, Miguel Klünder-Klünder, Loic Yengo, David Meyre, Celia Aradillas, Esperanza Cruz, Elva Pérez-Luque, Juan Manuel Malacara, Maria Eugenia Garay, Jesús Peralta-Romero, Samuel Flores-Huerta, Jaime García-Mena, Philippe Froguel, Miguel Cruz, Amélie Bonnefond BMC Medical Genetics 2013, 14:21 (1 February 2013) Abstract \| Full text \| PDF \| PubMed
		Research article Introduction of the AmpliChip CYP450 Test to a South African cohort: a platform comparative prospective cohort study Tyren M Dodgen, Warren E Hochfeld, Heidi Fickl, Sahle M Asfaha, Chrisna Durandt, Paul Rheeder, Britt I Drögemöller, Galen E Wright, Louise Warnich, Christiaan DJ Labuschagne, Antoinette van Schalkwyk, Andrea Gaedigk, Michael S Pepper BMC Medical Genetics 2013, 14:20 (29 January 2013) Abstract \| Provisional PDF \| PubMed
		Research article Microsomal triglyceride transfer protein -164 T > C gene polymorphism and risk of cardiovascular disease: results from the EPIC-Potsdam case-cohort study Romina di Giuseppe, Sonali Pechlivanis, Eva Fisher, Maria Arregui, Beate Weikert, Sven Knüppel, Brian Buijsse, Andreas Fritsche, Stefan N Willich, Hans-Georg Joost, Heiner Boeing, Susanne Moebus, Cornelia Weikert BMC Medical Genetics 2013, 14:19 (29 January 2013) Abstract \| Full text \| PDF \| PubMed
		Research article Genome-wide analysis validates aberrant methylation in fragile X syndrome is specific to the FMR1 locus Reid S Alisch, Tao Wang, Pankaj Chopra, Jeannie Visootsak, Karen N Conneely, Stephen T Warren BMC Medical Genetics 2013, 14:18 (29 January 2013) Abstract \| Provisional PDF \| PubMed
		Research article Lack of association between a functional variant of the BRCA-1 related associated protein (BRAP) gene and ischemic stroke Yi-Chu Liao, Hsiu-Fen Lin, Yuh-Cherng Guo, Chung-Hung Chen, Zhi-Zhang Huang, Suh-Hang Hank Juo, Ruey-Tay Lin BMC Medical Genetics 2013, 14:17 (28 January 2013) Abstract \| Full text \| PDF \| PubMed
		Research article Association between paraoxonase gene and stroke in the Han Chinese population Guojun Zhang, Wenjin Li, Zhiqiang Li, Hong Lv, Yonghong Ren, Ruimin Ma, Xiaohong Li, Xixiong Kang, Yongyong Shi, Yimin Sun BMC Medical Genetics 2013, 14:16 (28 January 2013) Abstract \| Full text \| PDF \| PubMed
		Research article A comprehensive investigation of variants in genes encoding adiponectin (ADIPOQ) and its receptors (ADIPOR1/R2), and their association with serum adiponectin, type 2 diabetes, insulin resistance and the metabolic syndrome Kirsten E Peters, John Beilby, Gemma Cadby, Nicole M Warrington, David G Bruce, Wendy A Davis, Timothy ME Davis, Steven Wiltshire, Matthew Knuiman, Brendan M McQuillan, Lyle J Palmer, Peter L Thompson, Joseph Hung BMC Medical Genetics 2013, 14:15 (25 January 2013) Abstract \| Provisional PDF \| PubMed
		Research article The silence of MUC2 mRNA induced by promoter hypermethylation associated with HBV in Hepatocellular Carcinoma Yang Ling, Jing Zhu, Lu Gao, Yongping Liu, Changtai Zhu, Rong Li, Lixin Wei, Changsong Zhang BMC Medical Genetics 2013, 14:14 (25 January 2013) Abstract \| Full text \| PDF \| PubMed
		Case report Bilateral radial agenesis with absent thumbs, complex heart defect, short stature, and facial dysmorphism in a patient with pure distal microduplication of 5q35.2-5q35.3 Aleksander Jamsheer, Anna Sowińska, Dorota Simon, Małgorzata Jamsheer-Bratkowska, Tomasz Trzeciak, Anna Latos-Bieleńska BMC Medical Genetics 2013, 14:13 (24 January 2013) Abstract \| Full text \| PDF \| PubMed
		Research article Potential contribution of SIM2 and ETS2 functional polymorphisms in Down syndrome associated malignancies Arpita Chatterjee, Samikshan Dutta, Sanjit Mukherjee, Nupur Mukherjee, Avirup Dutta, Ashis Mukherjee, Swagata Sinha, Chinmay Kumar Panda, Keya Chaudhuri, Ananda L Roy, Kanchan Mukhopadhyay BMC Medical Genetics 2013, 14:12 (23 January 2013) Abstract \| Full text \| PDF \| PubMed
		Research article Assessment of the 9p21.3 locus in severity of coronary artery disease in the presence and absence of type 2 diabetes Natalia V Rivera, Robert Carreras-Torres, Roberta Roncarati, Chiara Viviani-Anselmi, Francesca De Micco, Alessandra Mezzelani, Werner Koch, Petra Hoppmann, Adnan Kastrati, Alexandre FR Stewart, Li Chen, Robert Roberts, Lennart C Karssen, Najaf Amin, Valentina Trimarco, Raffaele Izzo, Guido Iaccarino, Gerolama Condorelli, Annibale A Puca, Paolo Pagnotta, Flavio Airoldi, Bruno Trimarco, Cornelia M van Duijn, Gianluigi Condorelli, Carlo Briguori BMC Medical Genetics 2013, 14:11 (23 January 2013) Abstract \| Full text \| PDF \| PubMed
		Research article Reduced genetic influence on childhood obesity in small for gestational age children Dug Yeo Han, Rinki Murphy, Angharad R Morgan, Wen Jiun Lam, John M D Thompson, Clare R Wall, Karen E Waldie, Edwin A Mitchell, Lynnette R Ferguson BMC Medical Genetics 2013, 14:10 (22 January 2013) Abstract \| Full text \| PDF \| PubMed
		Case report A study of two Chinese patients with tetrasomy and pentasomy 15q11q13 including Prader-Willi/Angelman syndrome critical region present with developmental delays and mental impairment Jing Yang, Yongchen Yang, Yi Huang, Yan Hu, Xi Chen, Hengjuan Sun, Zhibao Lv, Qian Cheng, Liming Bao BMC Medical Genetics 2013, 14:9 (15 January 2013) Abstract \| Provisional PDF \| PubMed
		Research article Meta-analysis of associations between TCF7L2 polymorphisms and risk of type 2 diabetes mellitus in the Chinese population Jinjin Wang, Fulan Hu, Tianping Feng, Jingzhi Zhao, Lei Yin, Linlin Li, Yan Wang, Qian Wang, Dongsheng Hu BMC Medical Genetics 2013, 14:8 (12 January 2013) Abstract \| Full text \| PDF \| PubMed
		Research article Identification of novel mutation in cathepsin C gene causing Papillon-Lefèvre Syndrome in Mexican patients José G Romero-Quintana, Luis O Frías-Castro, Eliakym Arámbula-Meraz, Maribel Aguilar-Medina, Jesús E Dueñas-Arias, Jesús D Melchor-Soto, José G Romero-Navarro, Rosalío Ramos-Payán BMC Medical Genetics 2013, 14:7 (11 January 2013) Abstract \| Full text \| PDF \| PubMed
		Research article Effects of smoking on the genetic risk of obesity: the population architecture using genomics and epidemiology study Megan D Fesinmeyer, Kari E North, Unhee Lim, Petra Bůžková, Dana C Crawford, Jeffrey Haessler, Myron D Gross, Jay H Fowke, Robert Goodloe, Shelley-Ann Love, Misa Graff, Christopher S Carlson, Lewis H Kuller, Tara C Matise, Ching-Ping Hong, Brian E Henderson, Melissa Allen, Rebecca R Rohde, Ping Mayo, Nathalie Schnetz-Boutaud, Kristine R Monroe, Marylyn D Ritchie, Ross L Prentice, Lawrence N Kolonel, JoAnn E Manson, James Pankow, Lucia A Hindorff, Nora Franceschini, Lynne R Wilkens, Christopher A Haiman, Loic Le Marchand, Ulrike Peters et al. BMC Medical Genetics 2013, 14:6 (11 January 2013) Abstract \| Full text \| PDF \| PubMed
		Research article Contribution of the PALB2 c.2323C>T [p.Q775X] Founder mutation in well-defined breast and/or ovarian cancer families and unselected ovarian cancer cases of French Canadian descent Marc Tischkowitz, Nelly Sabbaghian, Nancy Hamel, Carly Pouchet, William D Foulkes, Anne-Marie Mes-Masson, Diane M Provencher, Patricia N Tonin BMC Medical Genetics 2013, 14:5 (9 January 2013) Abstract \| Full text \| PDF \| PubMed
		Research article Mitochondrial DNA haplogroups confer differences in risk for age-related macular degeneration: a case control study M Cristina Kenney, Dieter Hertzog, Garrick Chak, Shari R Atilano, Nikan Khatibi, Kyaw Soe, Andrew Nobe, Elizabeth Yang, Marilyn Chwa, Feilin Zhu, Masood Memarzadeh, Jacqueline King, Jonathan Langberg, Kent Small, Anthony B Nesburn, David S Boyer, Nitin Udar BMC Medical Genetics 2013, 14:4 (9 January 2013) Abstract \| Full text \| PDF \| PubMed

	All
		Research article MLPA-based genotype--phenotype analysis in 1053 Chinese patients with DMD/BMD Juan Yang, Shao Y Li, Ya Q Li, Ji Q Cao, Shan W Feng, Yan Y Wang, Yi X Zhan, Chang S Yu, Fei Chen, Jing Li, Xiao F Sun, Cheng Zhang BMC Medical Genetics 2013, 14:29 (1 March 2013) Abstract \| Provisional PDF
		Case report Novel cAMP binding protein-BP (CREBBP) mutation in a girl with Rubinstein-Taybi syndrome, GH deficiency, Arnold Chiari malformation and pituitary hypoplasia Pierluigi Marzuillo, Anna Grandone, Ruggero Coppola, Domenico Cozzolino, Adalgisa Festa, Federica Messa, Caterina Luongo, Emanuele Miraglia del Giudice, Laura Perrone BMC Medical Genetics 2013, 14:28 (23 February 2013) Abstract \| Provisional PDF \| PubMed
		Research article Allele-specific polymerase chain reaction for the detection of Alzheimer's disease-related single nucleotide polymorphisms Mohd Nazif Darawi, Chin Ai-Vyrn, Kalavathy Ramasamy, Philip Poi Hua, Tan Maw Pin, Shahrul Bahyah Kamaruzzaman, Abu Bakar Majeed BMC Medical Genetics 2013, 14:27 (19 February 2013) Abstract \| Provisional PDF \| PubMed
		Research article Serum 25-hydroxyvitamin D3 levels and vitamin D receptor variants in melanoma patients from the Mediterranean area of Barcelona: 25-hydroxyvitamin D3 levels and VDR variants in melanoma patients from Barcelona Zighereda Ogbah, Laura Visa, Celia Badenas, José Ríos, Joan Anton Puig-Butille, Nuria Bonifaci, Elisabet Guino, Josep Maria Augé, Isabel Kolm, Cristina Carrera, Miquel Ángel Pujana, Josep Malvehy, Susana Puig BMC Medical Genetics 2013, 14:26 (16 February 2013) Abstract \| Provisional PDF \| PubMed
		Study protocol Study design of DIACORE (DIAbetes COhoRtE) – a cohort study of patients with diabetes mellitus type 2 Lena Dörhöfer, Alexander Lammert, Vera Krane, Mathias Gorski, Bernhard Banas, Christoph Wanner, Bernhard K Krämer, Iris M Heid, Carsten A Böger, for the DIACORE Study Group BMC Medical Genetics 2013, 14:25 (14 February 2013) Abstract \| Full text \| PDF \| PubMed
		Technical advance Newborn screening for citrin deficiency and carnitine uptake defect using second-tier molecular tests Li-Yun Wang, Nien-I Chen, Pin-Wen Chen, Shu-Chuan Chiang, Wuh-Liang Hwu, Ni-Chung Lee, Yin-Hsiu Chien BMC Medical Genetics 2013, 14:24 (10 February 2013) Abstract \| Full text \| PDF \| PubMed
		Research article Risk loci for coronary artery calcification replicated at 9p21 and 6q24 in the Heinz Nixdorf Recall Study Sonali Pechlivanis, Thomas W Mühleisen, Stefan Möhlenkamp, Dirk Schadendorf, Raimund Erbel, Karl-Heinz Jöckel, Per Hoffmann, Markus M Nöthen, André Scherag, Susanne Moebus, for the Heinz Nixdorf Recall Study Investigative Group BMC Medical Genetics 2013, 14:23 (8 February 2013) Abstract \| Full text \| PDF \| PubMed
		Research article Analysis of the contribution of FTO, NPC1, ENPP1, NEGR1, GNPDA2 and MC4R genes to obesity in Mexican children Aurora Mejía-Benítez, Miguel Klünder-Klünder, Loic Yengo, David Meyre, Celia Aradillas, Esperanza Cruz, Elva Pérez-Luque, Juan Manuel Malacara, Maria Eugenia Garay, Jesús Peralta-Romero, Samuel Flores-Huerta, Jaime García-Mena, Philippe Froguel, Miguel Cruz, Amélie Bonnefond BMC Medical Genetics 2013, 14:21 (1 February 2013) Abstract \| Full text \| PDF \| PubMed
		Research article Introduction of the AmpliChip CYP450 Test to a South African cohort: a platform comparative prospective cohort study Tyren M Dodgen, Warren E Hochfeld, Heidi Fickl, Sahle M Asfaha, Chrisna Durandt, Paul Rheeder, Britt I Drögemöller, Galen E Wright, Louise Warnich, Christiaan DJ Labuschagne, Antoinette van Schalkwyk, Andrea Gaedigk, Michael S Pepper BMC Medical Genetics 2013, 14:20 (29 January 2013) Abstract \| Provisional PDF \| PubMed
		Research article Microsomal triglyceride transfer protein -164 T > C gene polymorphism and risk of cardiovascular disease: results from the EPIC-Potsdam case-cohort study Romina di Giuseppe, Sonali Pechlivanis, Eva Fisher, Maria Arregui, Beate Weikert, Sven Knüppel, Brian Buijsse, Andreas Fritsche, Stefan N Willich, Hans-Georg Joost, Heiner Boeing, Susanne Moebus, Cornelia Weikert BMC Medical Genetics 2013, 14:19 (29 January 2013) Abstract \| Full text \| PDF \| PubMed
		Research article Genome-wide analysis validates aberrant methylation in fragile X syndrome is specific to the FMR1 locus Reid S Alisch, Tao Wang, Pankaj Chopra, Jeannie Visootsak, Karen N Conneely, Stephen T Warren BMC Medical Genetics 2013, 14:18 (29 January 2013) Abstract \| Provisional PDF \| PubMed
		Research article Lack of association between a functional variant of the BRCA-1 related associated protein (BRAP) gene and ischemic stroke Yi-Chu Liao, Hsiu-Fen Lin, Yuh-Cherng Guo, Chung-Hung Chen, Zhi-Zhang Huang, Suh-Hang Hank Juo, Ruey-Tay Lin BMC Medical Genetics 2013, 14:17 (28 January 2013) Abstract \| Full text \| PDF \| PubMed
		Research article Association between paraoxonase gene and stroke in the Han Chinese population Guojun Zhang, Wenjin Li, Zhiqiang Li, Hong Lv, Yonghong Ren, Ruimin Ma, Xiaohong Li, Xixiong Kang, Yongyong Shi, Yimin Sun BMC Medical Genetics 2013, 14:16 (28 January 2013) Abstract \| Full text \| PDF \| PubMed
		Research article A comprehensive investigation of variants in genes encoding adiponectin (ADIPOQ) and its receptors (ADIPOR1/R2), and their association with serum adiponectin, type 2 diabetes, insulin resistance and the metabolic syndrome Kirsten E Peters, John Beilby, Gemma Cadby, Nicole M Warrington, David G Bruce, Wendy A Davis, Timothy ME Davis, Steven Wiltshire, Matthew Knuiman, Brendan M McQuillan, Lyle J Palmer, Peter L Thompson, Joseph Hung BMC Medical Genetics 2013, 14:15 (25 January 2013) Abstract \| Provisional PDF \| PubMed
		Research article The silence of MUC2 mRNA induced by promoter hypermethylation associated with HBV in Hepatocellular Carcinoma Yang Ling, Jing Zhu, Lu Gao, Yongping Liu, Changtai Zhu, Rong Li, Lixin Wei, Changsong Zhang BMC Medical Genetics 2013, 14:14 (25 January 2013) Abstract \| Full text \| PDF \| PubMed
		Case report Bilateral radial agenesis with absent thumbs, complex heart defect, short stature, and facial dysmorphism in a patient with pure distal microduplication of 5q35.2-5q35.3 Aleksander Jamsheer, Anna Sowińska, Dorota Simon, Małgorzata Jamsheer-Bratkowska, Tomasz Trzeciak, Anna Latos-Bieleńska BMC Medical Genetics 2013, 14:13 (24 January 2013) Abstract \| Full text \| PDF \| PubMed
		Research article Potential contribution of SIM2 and ETS2 functional polymorphisms in Down syndrome associated malignancies Arpita Chatterjee, Samikshan Dutta, Sanjit Mukherjee, Nupur Mukherjee, Avirup Dutta, Ashis Mukherjee, Swagata Sinha, Chinmay Kumar Panda, Keya Chaudhuri, Ananda L Roy, Kanchan Mukhopadhyay BMC Medical Genetics 2013, 14:12 (23 January 2013) Abstract \| Full text \| PDF \| PubMed
		Research article Assessment of the 9p21.3 locus in severity of coronary artery disease in the presence and absence of type 2 diabetes Natalia V Rivera, Robert Carreras-Torres, Roberta Roncarati, Chiara Viviani-Anselmi, Francesca De Micco, Alessandra Mezzelani, Werner Koch, Petra Hoppmann, Adnan Kastrati, Alexandre FR Stewart, Li Chen, Robert Roberts, Lennart C Karssen, Najaf Amin, Valentina Trimarco, Raffaele Izzo, Guido Iaccarino, Gerolama Condorelli, Annibale A Puca, Paolo Pagnotta, Flavio Airoldi, Bruno Trimarco, Cornelia M van Duijn, Gianluigi Condorelli, Carlo Briguori BMC Medical Genetics 2013, 14:11 (23 January 2013) Abstract \| Full text \| PDF \| PubMed
		Research article Reduced genetic influence on childhood obesity in small for gestational age children Dug Yeo Han, Rinki Murphy, Angharad R Morgan, Wen Jiun Lam, John M D Thompson, Clare R Wall, Karen E Waldie, Edwin A Mitchell, Lynnette R Ferguson BMC Medical Genetics 2013, 14:10 (22 January 2013) Abstract \| Full text \| PDF \| PubMed
		Case report A study of two Chinese patients with tetrasomy and pentasomy 15q11q13 including Prader-Willi/Angelman syndrome critical region present with developmental delays and mental impairment Jing Yang, Yongchen Yang, Yi Huang, Yan Hu, Xi Chen, Hengjuan Sun, Zhibao Lv, Qian Cheng, Liming Bao BMC Medical Genetics 2013, 14:9 (15 January 2013) Abstract \| Provisional PDF \| PubMed
		Research article Meta-analysis of associations between TCF7L2 polymorphisms and risk of type 2 diabetes mellitus in the Chinese population Jinjin Wang, Fulan Hu, Tianping Feng, Jingzhi Zhao, Lei Yin, Linlin Li, Yan Wang, Qian Wang, Dongsheng Hu BMC Medical Genetics 2013, 14:8 (12 January 2013) Abstract \| Full text \| PDF \| PubMed
		Research article Identification of novel mutation in cathepsin C gene causing Papillon-Lefèvre Syndrome in Mexican patients José G Romero-Quintana, Luis O Frías-Castro, Eliakym Arámbula-Meraz, Maribel Aguilar-Medina, Jesús E Dueñas-Arias, Jesús D Melchor-Soto, José G Romero-Navarro, Rosalío Ramos-Payán BMC Medical Genetics 2013, 14:7 (11 January 2013) Abstract \| Full text \| PDF \| PubMed
		Research article Effects of smoking on the genetic risk of obesity: the population architecture using genomics and epidemiology study Megan D Fesinmeyer, Kari E North, Unhee Lim, Petra Bůžková, Dana C Crawford, Jeffrey Haessler, Myron D Gross, Jay H Fowke, Robert Goodloe, Shelley-Ann Love, Misa Graff, Christopher S Carlson, Lewis H Kuller, Tara C Matise, Ching-Ping Hong, Brian E Henderson, Melissa Allen, Rebecca R Rohde, Ping Mayo, Nathalie Schnetz-Boutaud, Kristine R Monroe, Marylyn D Ritchie, Ross L Prentice, Lawrence N Kolonel, JoAnn E Manson, James Pankow, Lucia A Hindorff, Nora Franceschini, Lynne R Wilkens, Christopher A Haiman, Loic Le Marchand, Ulrike Peters et al. BMC Medical Genetics 2013, 14:6 (11 January 2013) Abstract \| Full text \| PDF \| PubMed
		Research article Contribution of the PALB2 c.2323C>T [p.Q775X] Founder mutation in well-defined breast and/or ovarian cancer families and unselected ovarian cancer cases of French Canadian descent Marc Tischkowitz, Nelly Sabbaghian, Nancy Hamel, Carly Pouchet, William D Foulkes, Anne-Marie Mes-Masson, Diane M Provencher, Patricia N Tonin BMC Medical Genetics 2013, 14:5 (9 January 2013) Abstract \| Full text \| PDF \| PubMed
		Research article Mitochondrial DNA haplogroups confer differences in risk for age-related macular degeneration: a case control study M Cristina Kenney, Dieter Hertzog, Garrick Chak, Shari R Atilano, Nikan Khatibi, Kyaw Soe, Andrew Nobe, Elizabeth Yang, Marilyn Chwa, Feilin Zhu, Masood Memarzadeh, Jacqueline King, Jonathan Langberg, Kent Small, Anthony B Nesburn, David S Boyer, Nitin Udar BMC Medical Genetics 2013, 14:4 (9 January 2013) Abstract \| Full text \| PDF \| PubMed