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	1. 548 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
	2. 533 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 \| Cited on BioMed Central \| 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.
	3. 466 Accesses	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
	4. 443 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
	5. 412 Accesses	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
	6. 399 Accesses	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
	7. 397 Accesses	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
	8. 391 Accesses	Research article Contribution of germline BRCA1 and BRCA2 sequence alterations to breast cancer in Northern India Sunita Saxena, Anurupa Chakraborty, Mishi Kaushal, Sanjeev Kotwal, Dinesh Bhatanager, Ravindar S Mohil, Chintamani Chintamani, Anil K Aggarwal, Veena K Sharma, Prakash C Sharma, Gilbert Lenoir, David E Goldgar, Csilla I Szabo BMC Medical Genetics 2006, 7:75 (4 October 2006) Abstract \| Full text \| PDF \| PubMed \| Cited on BioMed Central
	9. 377 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.
	10. 366 Accesses	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
	11. 360 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
	12. 343 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 Jun Hua, Tan Maw Pin, Shahrul Bahyah Kamaruzzaman, Abu Bakar Abdul Majeed BMC Medical Genetics 2013, 14:27 (19 February 2013) Abstract \| Full text \| PDF \| ePUB \| PubMed
	13. 335 Accesses	Cohort study Change of dopamine receptor mRNA expression in lymphocyte of schizophrenic patients Yong T Kwak, Min-Seong Koo, Chul-Hee Choi, IN Sunwoo BMC Medical Genetics 2001, 2:3 (5 March 2001) Abstract \| Full text \| PDF \| PubMed
	14. 316 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.
	15. 274 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
	16. 263 Accesses	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
	17. 261 Accesses	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
	18. 245 Accesses	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
	19. 235 Accesses	Research article Testing the thrifty gene hypothesis: the Gly482Ser variant in PPARGC1A is associated with BMI in Tongans Sean Myles, Rod A Lea, Jun Ohashi, Geoff K Chambers, Joerg G Weiss, Emilie Hardouin, Johannes Engelken, Donia P Macartney-Coxson, David A Eccles, Izumi Naka, Ryosuke Kimura, Tsukasa Inaoka, Yasuhiro Matsumura, Mark Stoneking BMC Medical Genetics 2011, 12:10 (18 January 2011) Abstract \| Full text \| PDF \| PubMed
	20. 226 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
	21. 220 Accesses	Introduction The Framingham Heart Study 100K SNP genome-wide association study resource: overview of 17 phenotype working group reports L Adrienne Cupples, Heather T Arruda, Emelia J Benjamin, Ralph B D'Agostino, 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, Jason M Laramie, Martin G Larson, Daniel Levy, Chun-Yu Liu, Kathryn L Lunetta, Matthew D Mailman, Alisa K Manning, James B Meigs, Joanne M Murabito, Christopher Newton-Cheh, George T O'Connor, Christopher J O'Donnell, Mona Pandey, Sudha Seshadri et al. BMC Medical Genetics 2007, 8(Suppl 1):S1 (19 September 2007) Abstract \| Full text \| PDF \| PubMed \| Cited on BioMed Central
	22. 219 Accesses	Research article EDAR mutation in autosomal dominant hypohidrotic ectodermal dysplasia in two Swedish families Lisbet K Lind, Christina Stecksén-Blicks, Kristina Lejon, Marcus Schmitt-Egenolf BMC Medical Genetics 2006, 7:80 (24 November 2006) Abstract \| Full text \| PDF \| PubMed
	23. 215 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
	24. 201 Accesses	Research article Genetic characterization in symptomatic female DMD carriers: lack of relationship between X-inactivation, transcriptional DMD allele balancing and phenotype Simona Brioschi, Francesca Gualandi, Chiara Scotton, Annarita Armaroli, Matteo Bovolenta, Maria S Falzarano, Patrizia Sabatelli, Rita Selvatici, Adele D’Amico, Marika Pane, Giulia Ricci, Gabriele Siciliano, Silvana Tedeschi, Antonella Pini, Liliana Vercelli, Domenico De Grandis, Eugenio Mercuri, Enrico Bertini, Luciano Merlini, Tiziana Mongini, Alessandra Ferlini BMC Medical Genetics 2012, 13:73 (16 August 2012) Abstract \| Full text \| PDF \| PubMed \| F1000 Biology
	25. 201 Accesses	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