BMC Medical Genetics | Most Viewed

Submit a manuscript Register Contact us Follow us on Twitter

Explore BMC Medical Genetics

Advertisement

Articles

Display/download options Articles per page: 25 | 50 | 100

Display options

Editor's summary Citation

Download options

Send
To

	All
	1. 1082 Accesses	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
	2. 794 Accesses	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
	3. 696 Accesses	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
	4. 594 Accesses	Research article Genetic variants associated with breast size also influence breast cancer risk Nicholas Eriksson, Geoffrey M Benton, Chuong B Do, Amy K Kiefer, Joanna L Mountain, David A Hinds, Uta Francke, Joyce Y Tung BMC Medical Genetics 2012, 13:53 (30 June 2012) Abstract \| Full text \| PDF \| PubMed \| Editor’s summary A genomewide association study reveals seven single-nucleotide polymorphisms associated with differences in womens` breast size during normal development, of which two have been previously linked with the risk of breast cancer.
	5. 538 Accesses	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
	6. 507 Accesses	Debate Theories of schizophrenia: a genetic-inflammatory-vascular synthesis Daniel R Hanson, Irving I Gottesman BMC Medical Genetics 2005, 6:7 (11 February 2005) Abstract \| Full text \| PDF \| PubMed \| Cited on BioMed Central \| Editor’s summary Molecular genetic analysis suggests an inflammatory component to schizophrenia aetiology and presents a possible explanation for the variety of symptoms associated with the illness
	7. 483 Accesses	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
	8. 462 Accesses	Review Genetic studies of the Roma (Gypsies): a review Luba Kalaydjieva, David Gresham, Francesc Calafell BMC Medical Genetics 2001, 2:5 (2 April 2001) Abstract \| Full text \| PDF \| PubMed \| Cited on BioMed Central
	9. 452 Accesses	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
	10. 441 Accesses	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
	11. 426 Accesses	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
	12. 383 Accesses	Correspondence Practice guidelines for the molecular analysis of Prader-Willi and Angelman syndromes Simon C Ramsden, Jill Clayton-Smith, Rachael Birch, Karin Buiting BMC Medical Genetics 2010, 11:70 (11 May 2010) Abstract \| Full text \| PDF \| PubMed \| Editor’s summary A new consensus on testing and reporting guidelines for diagnosing the neurodevelopmental genetic disorders Prader-Willi syndrome (PWS) and Angelman syndrome (AS) has been established via analysis of the methylation patterns on chromosome 15.
	13. 354 Accesses	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
	14. 344 Accesses	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
	15. 342 Accesses	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
	16. 326 Accesses	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
	17. 321 Accesses	Research article An Open Access Database of Genome-wide Association Results Andrew D Johnson, Christopher J O'Donnell BMC Medical Genetics 2009, 10:6 (22 January 2009) Abstract \| Full text \| PDF \| PubMed \| Cited on BioMed Central \| Editor’s summary A new centralized open access database containing the results of 118 genome-wide association (GWA) studies shows considerable heterogeneity in the data and provides a potential resource for result sharing between a wide community of researchers.
	18. 321 Accesses	Research article Genotype-phenotype correlation in 22q11.2 deletion syndrome Elena Michaelovsky, Amos Frisch, Miri Carmel, Miriam Patya, Omer Zarchi, Tamar Green, Lina Basel-Vanagaite, Abraham Weizman, Doron Gothelf BMC Medical Genetics 2012, 13:122 (17 December 2012) Abstract \| Full text \| PDF \| PubMed
	19. 295 Accesses	Research article The molecular basis of beta-thalassemia intermedia in southern China: genotypic heterogeneity and phenotypic diversity Wanqun Chen, Xinhua Zhang, Xuan Shang, Ren Cai, Liyan Li, Tianhong Zhou, Manna Sun, Fu Xiong, Xiangmin Xu BMC Medical Genetics 2010, 11:31 (25 February 2010) Abstract \| Full text \| PDF \| PubMed
	20. 290 Accesses	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
	21. 290 Accesses	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
	22. 282 Accesses	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
	23. 264 Accesses	Case report A short in-frame deletion in NTRK1 tyrosine kinase domain caused by a novel splice site mutation in a patient with congenital insensitivity to pain with anhidrosis Esther Sarasola, Jose A Rodríguez, Elisa Garrote, Javier Arístegui, Maria J García-Barcina BMC Medical Genetics 2011, 12:86 (27 June 2011) Abstract \| Full text \| PDF \| PubMed
	24. 259 Accesses	Research article Whole-exome sequencing of a pedigree segregating asthma Andrew T DeWan, Kathryn Brigham Egan, Karen Hellenbrand, Keli Sorrentino, Nicole Pizzoferrato, Kyle M Walsh, Michael B Bracken BMC Medical Genetics 2012, 13:95 (9 October 2012) Abstract \| Full text \| PDF \| PubMed \| Editor’s summary Whole-exome sequencing of a family with multiple asthmatic children identified several potentially functional novel variants specific to the family that may contribute to asthma susceptibility.
	25. 257 Accesses	Research article *Association of HLA-B5801 allele and allopurinol-induced stevens johnson syndrome and toxic epidermal necrolysis: a systematic review and meta-analysis** Ratchadaporn Somkrua, Elizabeth E Eickman, Surasak Saokaew, Manupat Lohitnavy, Nathorn Chaiyakunapruk BMC Medical Genetics 2011, 12:118 (9 September 2011) Abstract \| Full text \| PDF \| PubMed