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Volume 11;  2010
Case Reports
A novel mutation in the glycogen synthase 2 gene in a child with glycogen storage disease type 0
Ana Priscila Soggia, Maria Lúcia Correa-Giannella, Maria Angela Henriques Fortes, Ana Mercedes Cavaleiro Luna, and Maria Adelaide Albergaria Pereira
BMC Med Genet. 2010; 11: 3. Published online 2010 January 5. doi: 10.1186/1471-2350-11-3.
PMCID: PMC2837020
Adult case of partial trisomy 9q
Keith Tiong, Andrew Cotterill, and Henrik Falhammar
BMC Med Genet. 2010; 11: 26. Published online 2010 February 16. doi: 10.1186/1471-2350-11-26.
PMCID: PMC2850894
Correspondence
Practice guidelines for the molecular analysis of Prader-Willi and Angelman syndromes
Simon C Ramsden, Jill Clayton-Smith, Rachael Birch, and Karin Buiting
BMC Med Genet. 2010; 11: 70. Published online 2010 May 11. doi: 10.1186/1471-2350-11-70.
PMCID: PMC2877670
Debate
Is Lamarckian evolution relevant to medicine?
Adam E Handel and Sreeram V Ramagopalan
BMC Med Genet. 2010; 11: 73. Published online 2010 May 13. doi: 10.1186/1471-2350-11-73.
PMCID: PMC2876149
Technical Advances
Quantitative assay for the detection of the V617F variant in the Janus kinase 2 (JAK2) gene using the Luminex xMAP technology
François W Paradis, Raynald Simard, and Daniel Gaudet
BMC Med Genet. 2010; 11: 54. Published online 2010 April 1. doi: 10.1186/1471-2350-11-54.
PMCID: PMC2861026
Pitfalls in mutational testing and reporting of common KIT and PDGFRA mutations in gastrointestinal stromal tumors
Sabine Merkelbach-Bruse, Wolfgang Dietmaier, Laszlo Füzesi, Andreas Gaumann, Florian Haller, Julia Kitz, Antje Krohn, Gunhild Mechtersheimer, Roland Penzel, Hans-Ulrich Schildhaus, Regine Schneider-Stock, Ronald Simon, and Eva Wardelmann
BMC Med Genet. 2010; 11: 106. Published online 2010 July 4. doi: 10.1186/1471-2350-11-106.
PMCID: PMC2910708
Research Articles
No association of the polymorphisms of the frizzled-related protein gene with peak bone mineral density in Chinese nuclear families
Gao Gao, Zhen-Lin Zhang, Jin-Wei He, Hao Zhang, Hua Yue, Wei-Wei Hu, Jie-Mei Gu, Wen-Zhen Fu, Yun-Qiu Hu, Miao Li, Yu-Juan Liu, and Jin-Bo Yu
BMC Med Genet. 2010; 11: 1. Published online 2010 January 1. doi: 10.1186/1471-2350-11-1.
PMCID: PMC2806249
Mutation screen and association studies for the fatty acid amide hydrolase (FAAH) gene and early onset and adult obesity
Timo D Müller, Günter Brönner, Melanie Wandolski, Jophia Carrie, Trang T Nguyen, Brandon H Greene, André Scherag, Harald Grallert, Carla IG Vogel, Susann Scherag, Winfried Rief, Hans-Erich Wichmann, Thomas Illig, Helmut Schäfer, Johannes Hebebrand, and Anke Hinney
BMC Med Genet. 2010; 11: 2. Published online 2010 January 1. doi: 10.1186/1471-2350-11-2.
PMCID: PMC2830932
Uptake of genetic testing and long-term tumor surveillance in von Hippel-Lindau disease
Astrid Rasmussen, Elisa Alonso, Adriana Ochoa, Irene De Biase, Itziar Familiar, Petra Yescas, Ana-Luisa Sosa, Yaneth Rodríguez, Mireya Chávez, Marisol López-López, and Sanjay I Bidichandani
BMC Med Genet. 2010; 11: 4. Published online 2010 January 12. doi: 10.1186/1471-2350-11-4.
PMCID: PMC2822817
Mannose-binding lectin genotypes: lack of association with susceptibility to thoracic empyema
Stephen J Chapman, Fredrik O Vannberg, Chiea C Khor, Anna Rautanen, Nicholas A Maskell, Christopher WH Davies, Catrin E Moore, Nicholas P Day, Derrick W Crook, Robert JO Davies, and Adrian VS Hill
BMC Med Genet. 2010; 11: 5. Published online 2010 January 15. doi: 10.1186/1471-2350-11-5.
PMCID: PMC2820469
Gene polymorphisms in association with emerging cardiovascular risk markers in adult women
Amy Z Fan, Ajay Yesupriya, Man-huei Chang, Meaghan House, Jing Fang, Renée Ned, Donald Hayes, Nicole F Dowling, and Ali H Mokdad
BMC Med Genet. 2010; 11: 6. Published online 2010 January 15. doi: 10.1186/1471-2350-11-6.
PMCID: PMC2826307
Association of MMP - 12 polymorphisms with severe and very severe COPD: A case control study of MMPs - 1, 9 and 12 in a European population
Imran Haq, Sally Chappell, Simon R Johnson, Juzer Lotya, Leslie Daly, Kevin Morgan, Tamar Guetta-Baranes, Josep Roca, Roberto Rabinovich, Ann B Millar, Seamas C Donnelly, Vera Keatings, William MacNee, Jan Stolk, Pieter S Hiemstra, Massimo Miniati, Simonetta Monti, Clare M O'Connor, and Noor Kalsheker
BMC Med Genet. 2010; 11: 7. Published online 2010 January 15. doi: 10.1186/1471-2350-11-7.
PMCID: PMC2820470
Association between novel TARDBP mutations and Chinese patients with amyotrophic lateral sclerosis
Hui-Ling Xiong, Jin-Yang Wang, Yi-Min Sun, Jian-Jun Wu, Yan Chen, Kai Qiao, Qiao-Juan Zheng, Gui-xian Zhao, and Zhi-Ying Wu
BMC Med Genet. 2010; 11: 8. Published online 2010 January 19. doi: 10.1186/1471-2350-11-8.
PMCID: PMC2821387
Impact of gene variants on sex-specific regulation of human Scavenger receptor class B type 1 (SR-BI) expression in liver and association with lipid levels in a population-based study
Ornit Chiba-Falek, Marshall Nichols, Sunil Suchindran, John Guyton, Geoffrey S Ginsburg, Elizabeth Barrett-Connor, and Jeanette J McCarthy
BMC Med Genet. 2010; 11: 9. Published online 2010 January 19. doi: 10.1186/1471-2350-11-9.
PMCID: PMC2822818
CXCR1 and SLC11A1 polymorphisms affect susceptibility to cutaneous leishmaniasis in Brazil: a case-control and family-based study
Léa Castellucci, Sarra E Jamieson, E Nancy Miller, Eliane Menezes, Joyce Oliveira, Andrea Magalhães, Luiz Henrique Guimarães, Marcus Lessa, Amélia Ribeiro de Jesus, Edgar M Carvalho, and Jenefer M Blackwell
BMC Med Genet. 2010; 11: 10. Published online 2010 January 20. doi: 10.1186/1471-2350-11-10.
PMCID: PMC2823618
Allelic variants in the PHTF1-PTPN22, C12orf30 and CD226 regions as candidate susceptibility factors for the type 1 diabetes in the Estonian population
Konstantinos Douroudis, Kalle Kisand, Virge Nemvalts, Tarvo Rajasalu, and Raivo Uibo
BMC Med Genet. 2010; 11: 11. Published online 2010 January 20. doi: 10.1186/1471-2350-11-11.
PMCID: PMC2830196
Large effects on body mass index and insulin resistance of fat mass and obesity associated gene (FTO) variants in patients with polycystic ovary syndrome (PCOS)
Susanne Tan, André Scherag, Onno Eilard Janssen, Susanne Hahn, Harald Lahner, Tiina Dietz, Susann Scherag, Harald Grallert, Carla Ivane Ganz Vogel, Rainer Kimmig, Thomas Illig, Klaus Mann, Johannes Hebebrand, and Anke Hinney
BMC Med Genet. 2010; 11: 12. Published online 2010 January 21. doi: 10.1186/1471-2350-11-12.
PMCID: PMC2824654
The G-Protein β3 subunit 825 TT genotype is associated with epigastric pain syndrome-like dyspepsia
Tadayuki Oshima, Shigemi Nakajima, Tetsuji Yokoyama, Fumihiko Toyoshima, Jun Sakurai, Junji Tanaka, Toshihiko Tomita, Yongmin Kim, Kazutoshi Hori, Takayuki Matsumoto, and Hiroto Miwa
BMC Med Genet. 2010; 11: 13. Published online 2010 January 26. doi: 10.1186/1471-2350-11-13.
PMCID: PMC2825227
Modeling complex genetic and environmental influences on comorbid bipolar disorder with tobacco use disorder
Richard C McEachin, Nancy L Saccone, Scott F Saccone, Yelena D Kleyman-Smith, Tiara Kar, Rajesh K Kare, Alex S Ade, Maureen A Sartor, James D Cavalcoli, and Melvin G McInnis
BMC Med Genet. 2010; 11: 14. Published online 2010 January 26. doi: 10.1186/1471-2350-11-14.
PMCID: PMC2823619
Hypervariable intronic region in NCX1 is enriched in short insertion-deletion polymorphisms and showed association with cardiovascular traits
Katrin Kepp, Elin Org, Siim Sõber, Piret Kelgo, Margus Viigimaa, Gudrun Veldre, Neeme Tõnisson, Peeter Juhanson, Margus Putku, Andreas Kindmark, Viktor Kožich, and Maris Laan
BMC Med Genet. 2010; 11: 15. Published online 2010 January 28. doi: 10.1186/1471-2350-11-15.
PMCID: PMC2832636
Haplotypes of intron 4 of the estrogen receptor alpha gene and hip fractures: a replication study in Caucasians
Javier Velasco, José L Hernández, José L Pérez-Castrillón, María T Zarrabeitia, María A Alonso, Jesús González-Macías, and José A Riancho
BMC Med Genet. 2010; 11: 16. Published online 2010 January 28. doi: 10.1186/1471-2350-11-16.
PMCID: PMC2837017
Toll-like receptor 2 gene polymorphisms, pulmonary tuberculosis, and natural killer cell counts
Yung-Che Chen, Chang-Chun Hsiao, Chung-Jen Chen, Chien-Hung Chin, Shih-Feng Liu, Chao-Chien Wu, Hock-Liew Eng, Tung-Ying Chao, Chia-Cheng Tsen, Yi-Hsi Wang, and Meng-Chih Lin
BMC Med Genet. 2010; 11: 17. Published online 2010 January 30. doi: 10.1186/1471-2350-11-17.
PMCID: PMC2824655
Genetic selection? A study of individual variation in the enzymes of folate metabolism
Barbara A Jennings, Gavin A Willis, Jane Skinner, and Caroline L Relton
BMC Med Genet. 2010; 11: 18. Published online 2010 February 1. doi: 10.1186/1471-2350-11-18.
PMCID: PMC2835673
Frequency of Fabry disease in male and female haemodialysis patients in Spain
Paulo Gaspar, Julio Herrera, Daniel Rodrigues, Sebastián Cerezo, Rodrigo Delgado, Carlos F Andrade, Ramón Forascepi, Juan Macias, Maria D del Pino, Maria D Prados, Pilar R de Alegria, Gerardo Torres, Pedro Vidau, and Maria C Sá-Miranda
BMC Med Genet. 2010; 11: 19. Published online 2010 February 1. doi: 10.1186/1471-2350-11-19.
PMCID: PMC2837018
A novel germline PALB2 deletion in Polish breast and ovarian cancer patients
Agnieszka Dansonka-Mieszkowska, Anna Kluska, Joanna Moes, Michalina Dabrowska, Dorota Nowakowska, Anna Niwinska, Pawel Derlatka, Krzysztof Cendrowski, and Jolanta Kupryjanczyk
BMC Med Genet. 2010; 11: 20. Published online 2010 February 2. doi: 10.1186/1471-2350-11-20.
PMCID: PMC2829009
Loss of balancing selection in the βS globin locus
Niven A Salih, Ayman A Hussain, Ibrahim A Almugtaba, Abeir M Elzein, Ibrahim M Elhassan, Eltahir AG Khalil, Hani B Ishag, Hiba S Mohammed, Dominic Kwiatkowski, and Muntaser E Ibrahim
BMC Med Genet. 2010; 11: 21. Published online 2010 February 3. doi: 10.1186/1471-2350-11-21.
PMCID: PMC2829010
Chromosome 7p linkage and association study for diabetes related traits and type 2 diabetes in an African-American population enriched for nephropathy
Tennille S Leak, Carl D Langefeld, Keith L Keene, Carla J Gallagher, Lingyi Lu, Josyf C Mychaleckyj, Stephen S Rich, Barry I Freedman, Donald W Bowden, and Michèle M Sale
BMC Med Genet. 2010; 11: 22. Published online 2010 February 8. doi: 10.1186/1471-2350-11-22.
PMCID: PMC2829011
A novel DSPP mutation causes dentinogenesis imperfecta type II in a large Mongolian family
Haihua Bai, Hasi Agula, Qizhu Wu, Wenyu Zhou, Yujing Sun, Yue Qi, Suya Latu, Yujie Chen, Jiri Mutu, and Changchun Qiu
BMC Med Genet. 2010; 11: 23. Published online 2010 February 10. doi: 10.1186/1471-2350-11-23.
PMCID: PMC2829541
Dopamine D2 receptor polymorphisms and susceptibility to alcohol dependence in Indian males: a preliminary study
Pushplata Prasad, Atul Ambekar, and Meera Vaswani
BMC Med Genet. 2010; 11: 24. Published online 2010 February 11. doi: 10.1186/1471-2350-11-24.
PMCID: PMC2829542
Leptin receptor (LEPR) SNP polymorphisms in HELLP syndrome patients determined by quantitative real-time PCR and melting curve analysis
Tibor Várkonyi, Levente Lázár, Attila Molvarec, Nándor Gábor Than, János Rigó, Jr, and Bálint Nagy
BMC Med Genet. 2010; 11: 25. Published online 2010 February 11. doi: 10.1186/1471-2350-11-25.
PMCID: PMC2833147
Health status in patients at risk of inherited arrhythmias and sudden unexpected death compared to the general population
Anniken Hamang, Geir Egil Eide, Karin Nordin, Berit Rokne, Cathrine Bjorvatn, and Nina Øyen
BMC Med Genet. 2010; 11: 27. Published online 2010 February 17. doi: 10.1186/1471-2350-11-27.
PMCID: PMC2836315
Fibrinogen beta variants confer protection against coronary artery disease in a Greek case-control study
Eirini V Theodoraki, Tiit Nikopensius, Julia Suhorutšenko, Vassileios Peppes, Panagiota Fili, Genovefa Kolovou, Vassileios Papamikos, Dimitrios Richter, Nikolaos Zakopoulos, Kaarel Krjutškov, Andres Metspalu, and George V Dedoussis
BMC Med Genet. 2010; 11: 28. Published online 2010 February 18. doi: 10.1186/1471-2350-11-28.
PMCID: PMC2834581
Variable number of tandem repeat polymorphisms of the interleukin-1 receptor antagonist gene IL-1RN: a novel association with the athlete status
Sabina Cauci, Manuela Di Santolo, Kelli K Ryckman, Scott M Williams, and Giuseppe Banfi
BMC Med Genet. 2010; 11: 29. Published online 2010 February 22. doi: 10.1186/1471-2350-11-29.
PMCID: PMC2837019
Study of the serotonin transporter (SLC6A4) and BDNF genes in French patients with non syndromic mental deficiency
Refaat Tabagh, Christian R Andres, Sylviane Védrine, Catherine Cherpi-Antar, Rose-Anne Thepault, Laurence Mignon, Diane Dufour-Rainfray, Claude Moraine, and Patrick Vourc'h
BMC Med Genet. 2010; 11: 30. Published online 2010 February 22. doi: 10.1186/1471-2350-11-30.
PMCID: PMC2837021
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, and Xiangmin Xu
BMC Med Genet. 2010; 11: 31. Published online 2010 February 25. doi: 10.1186/1471-2350-11-31.
PMCID: PMC2845123
Caspase-1 genetic variation is not associated with Alzheimer's disease risk
José Luis Vázquez-Higuera, Eloy Rodríguez-Rodríguez, Pascual Sánchez-Juan, Ignacio Mateo, Ana Pozueta, Ana Martínez-García, Ana Frank, Fernando Valdivieso, José Berciano, María J Bullido, and Onofre Combarros
BMC Med Genet. 2010; 11: 32. Published online 2010 February 25. doi: 10.1186/1471-2350-11-32.
PMCID: PMC2837022
Molecular and clinical analysis of Ellis-van Creveld syndrome in the United Arab Emirates
Bassam R Ali, Nadia A Akawi, Faris Chedid, Mahmood Bakir, Moghis Ur Rehman, Aiman Rahmani, and Lihadh Al-Gazali
BMC Med Genet. 2010; 11: 33. Published online 2010 February 25. doi: 10.1186/1471-2350-11-33.
PMCID: PMC2845574
Mutations in epidermal growth factor receptor and K-ras in Chinese patients with colorectal cancer
Zuo Yunxia, Cao Jun, Zhu Guanshan, Lu Yachao, Zhou Xueke, and Li Jin
BMC Med Genet. 2010; 11: 34. Published online 2010 February 26. doi: 10.1186/1471-2350-11-34.
PMCID: PMC2848222
Evaluation of DOK5 as a susceptibility gene for type 2 diabetes and obesity in North Indian population
Rubina Tabassum, Anubha Mahajan, Ganesh Chauhan, Om Prakash Dwivedi, Saurabh Ghosh, Nikhil Tandon, and Dwaipayan Bharadwaj
BMC Med Genet. 2010; 11: 35. Published online 2010 February 27. doi: 10.1186/1471-2350-11-35.
PMCID: PMC2848002
Association of Nrf2-encoding NFE2L2 haplotypes with Parkinson's disease
Malin von Otter, Sara Landgren, Staffan Nilsson, Dragana Celojevic, Petra Bergström, Anna Håkansson, Hans Nissbrandt, Marek Drozdzik, Monika Bialecka, Mateusz Kurzawski, Kaj Blennow, Michael Nilsson, Ola Hammarsten, and Henrik Zetterberg
BMC Med Genet. 2010; 11: 36. Published online 2010 March 2. doi: 10.1186/1471-2350-11-36.
PMCID: PMC2843602
Polymorphisms in IL-1β, vitamin D receptor Fok1, and Toll-like receptor 2 are associated with extrapulmonary tuberculosis
Alison A Motsinger-Reif, Paulo RZ Antas, Noffisat O Oki, Shawn Levy, Steven M Holland, and Timothy R Sterling
BMC Med Genet. 2010; 11: 37. Published online 2010 March 2. doi: 10.1186/1471-2350-11-37.
PMCID: PMC2837863
PARP-1 Val762Ala polymorphism is associated with reduced risk of non-Hodgkin lymphoma in Korean males
Xue Mei Jin, Hee Nam Kim, Il-Kwon Lee, Kyeong-Soo Park, Hyeoung-Joon Kim, Jin-Su Choi, Sang Woo Juhng, and Chan Choi
BMC Med Genet. 2010; 11: 38. Published online 2010 March 3. doi: 10.1186/1471-2350-11-38.
PMCID: PMC2843603
Glucocorticoid receptor gene polymorphisms do not affect growth in fetal and early postnatal life. The Generation R Study
Miranda JJ Geelhoed, Eric AP Steegers, Jan W Koper, Elisabeth FC van Rossum, Henriette A Moll, Hein Raat, Henning Tiemeier, Albert Hofman, and Vincent WV Jaddoe
BMC Med Genet. 2010; 11: 39. Published online 2010 March 3. doi: 10.1186/1471-2350-11-39.
PMCID: PMC2846902
Variants of the Matrix Metalloproteinase-2 but not the Matrix Metalloproteinase-9 genes significantly influence functional outcome after stroke
Helena Manso, Tiago Krug, João Sobral, Isabel Albergaria, Gisela Gaspar, José M Ferro, Sofia A Oliveira, and Astrid M Vicente
BMC Med Genet. 2010; 11: 40. Published online 2010 March 11. doi: 10.1186/1471-2350-11-40.
PMCID: PMC2851591
A meta-analysis of genome-wide data from five European isolates reveals an association of COL22A1, SYT1, and GABRR2 with serum creatinine level
Cristian Pattaro, Alessandro De Grandi, Veronique Vitart, Caroline Hayward, Andre Franke, Yurii S Aulchenko, Asa Johansson, Sarah H Wild, Scott A Melville, Aaron Isaacs, Ozren Polasek, David Ellinghaus, Ivana Kolcic, Ute Nöthlings, Lina Zgaga, Tatijana Zemunik, Carsten Gnewuch, Stefan Schreiber, Susan Campbell, Nick Hastie, Mladen Boban, Thomas Meitinger, Ben A Oostra, Peter Riegler, Cosetta Minelli, Alan F Wright, Harry Campbell, Cornelia M van Duijn, Ulf Gyllensten, James F Wilson, Michael Krawczak, Igor Rudan, Peter P Pramstaller, and the EUROSPAN consortium
BMC Med Genet. 2010; 11: 41. Published online 2010 March 11. doi: 10.1186/1471-2350-11-41.
PMCID: PMC2848223
Further evidence that mutations in INS can be a rare cause of Maturity-Onset Diabetes of the Young (MODY)
Trine W Boesgaard, Stepanka Pruhova, Ehm A Andersson, Ondrej Cinek, Barbora Obermannova, Jeannet Lauenborg, Peter Damm, Regine Bergholdt, Flemming Pociot, Charlotta Pisinger, Fabrizio Barbetti, Jan Lebl, Oluf Pedersen, and Torben Hansen
BMC Med Genet. 2010; 11: 42. Published online 2010 March 12. doi: 10.1186/1471-2350-11-42.
PMCID: PMC2848224
EEG alpha phenotypes: linkage analyses and relation to alcohol dependence in an American Indian community study
Cindy L Ehlers, Ian R Gizer, Evelyn Phillips, and Kirk C Wilhelmsen
BMC Med Genet. 2010; 11: 43. Published online 2010 March 18. doi: 10.1186/1471-2350-11-43.
PMCID: PMC2851592
Identification of a deep intronic mutation in the COL6A2 gene by a novel custom oligonucleotide CGH array designed to explore allelic and genetic heterogeneity in collagen VI-related myopathies
Matteo Bovolenta, Marcella Neri, Elena Martoni, Anna Urciuolo, Patrizia Sabatelli, Marina Fabris, Paolo Grumati, Eugenio Mercuri, Enrico Bertini, Luciano Merlini, Paolo Bonaldo, Alessandra Ferlini, and Francesca Gualandi
BMC Med Genet. 2010; 11: 44. Published online 2010 March 19. doi: 10.1186/1471-2350-11-44.
PMCID: PMC2850895
Mutation analysis of the LCE3B/LCE3C genes in Psoriasis
Eliecer Coto, Jorge Santos-Juanes, Pablo Coto-Segura, Marta Díaz, Javier Soto, Rubén Queiro, and Victoria Alvarez
BMC Med Genet. 2010; 11: 45. Published online 2010 March 23. doi: 10.1186/1471-2350-11-45.
PMCID: PMC2859809
Glutathione S-Transferase P1 (GSTP1) gene polymorphism increases age-related susceptibility to hepatocellular carcinoma
Yao-Li Chen, Hsin-Shun Tseng, Wu-Hsien Kuo, Shun-Fa Yang, Dar-Ren Chen, and Hsiu-Ting Tsai
BMC Med Genet. 2010; 11: 46. Published online 2010 March 24. doi: 10.1186/1471-2350-11-46.
PMCID: PMC2851593
High frequency of Machado-Joseph disease identified in Southeastern Chinese kindreds with spinocerebellar ataxia
Shi-Rui Gan, Sheng-Sheng Shi, Jian-Jun Wu, Ning Wang, Gui-Xian Zhao, Sheng-Tong Weng, Shen-Xing Murong, Chuan-Zhen Lu, and Zhi-Ying Wu
BMC Med Genet. 2010; 11: 47. Published online 2010 March 25. doi: 10.1186/1471-2350-11-47.
PMCID: PMC2861663
MFN2 point mutations occur in 3.4% of Charcot-Marie-Tooth families. An investigation of 232 Norwegian CMT families
Geir J Braathen, Jette C Sand, Ana Lobato, Helle Høyer, and Michael B Russell
BMC Med Genet. 2010; 11: 48. Published online 2010 March 29. doi: 10.1186/1471-2350-11-48.
PMCID: PMC2859816
Low incidence of limb-girdle muscular dystrophy type 2C revealed by a mutation study in Japanese patients clinically diagnosed with DMD
Yo Okizuka, Yasuhiro Takeshima, Kyoko Itoh, Zhujun Zhang, Hiroyuki Awano, Koichi Maruyama, Toshiyuki Kumagai, Mariko Yagi, and Masafumi Matsuo
BMC Med Genet. 2010; 11: 49. Published online 2010 March 30. doi: 10.1186/1471-2350-11-49.
PMCID: PMC2861025
Allelic variants of IL1R1 gene associate with severe hand osteoarthritis
Annu Näkki, Sanna T Kouhia, Janna Saarela, Arsi Harilainen, Kaj Tallroth, Tapio Videman, Michele C Battié, Jaakko Kaprio, Leena Peltonen, and Urho M Kujala
BMC Med Genet. 2010; 11: 50. Published online 2010 March 30. doi: 10.1186/1471-2350-11-50.
PMCID: PMC2859817
Genetic modifiers of Hb E/β0 thalassemia identified by a two-stage genome-wide association study
Richard Sherva, Orapan Sripichai, Kenneth Abel, Qianli Ma, Johanna Whitacre, Vach Angkachatchai, Wattanan Makarasara, Pranee Winichagoon, Saovaros Svasti, Suthat Fucharoen, Andreas Braun, and Lindsay A Farrer
BMC Med Genet. 2010; 11: 51. Published online 2010 March 30. doi: 10.1186/1471-2350-11-51.
PMCID: PMC2853425
Association analysis of ADPRT1, AKR1B1, RAGE, GFPT2 and PAI-1 gene polymorphisms with chronic renal insufficiency among Asian Indians with type-2 diabetes
Pushplata Prasad, Arun K Tiwari, KM Prasanna Kumar, AC Ammini, Arvind Gupta, Rajeev Gupta, and BK Thelma
BMC Med Genet. 2010; 11: 52. Published online 2010 March 31. doi: 10.1186/1471-2350-11-52.
PMCID: PMC2855532
Maternal inheritance and mitochondrial DNA variants in familial Parkinson's disease
David K Simon, Nathan Pankratz, Diane K Kissell, Michael W Pauciulo, Cheryl A Halter, Alice Rudolph, Ronald F Pfeiffer, William C Nichols, Tatiana Foroud, and the Parkinson Study Group - PROGENI Investigators
BMC Med Genet. 2010; 11: 53. Published online 2010 April 1. doi: 10.1186/1471-2350-11-53.
PMCID: PMC2858137
Genome-wide association analysis of total cholesterol and high-density lipoprotein cholesterol levels using the Framingham Heart Study data
Li Ma, Jing Yang, H Birali Runesha, Toshiko Tanaka, Luigi Ferrucci, Stefania Bandinelli, and Yang Da
BMC Med Genet. 2010; 11: 55. Published online 2010 April 6. doi: 10.1186/1471-2350-11-55.
PMCID: PMC2867786
Promoter polymorphism -119C/G in MYG1 (C12orf10) gene is related to vitiligo susceptibility and Arg4Gln affects mitochondrial entrance of Myg1
Mari-Anne Philips, Külli Kingo, Maire Karelson, Ranno Rätsep, Eerik Aunin, Ene Reimann, Paula Reemann, Orm Porosaar, Jonas Vikeså, Finn C Nielsen, Eero Vasar, Helgi Silm, and Sulev Kõks
BMC Med Genet. 2010; 11: 56. Published online 2010 April 8. doi: 10.1186/1471-2350-11-56.
PMCID: PMC2856544
FTO variant rs9939609 is associated with body mass index and waist circumference, but not with energy intake or physical activity in European- and African-American youth
Gaifen Liu, Haidong Zhu, Vasiliki Lagou, Bernard Gutin, Inger S Stallmann-Jorgensen, Frank A Treiber, Yanbin Dong, and Harold Snieder
BMC Med Genet. 2010; 11: 57. Published online 2010 April 9. doi: 10.1186/1471-2350-11-57.
PMCID: PMC2864242
The obesity gene, TMEM18, is of ancient origin, found in majority of neuronal cells in all major brain regions and associated with obesity in severely obese children
Markus Sällman Almén, Josefin A Jacobsson, Jafar HA Shaik, Pawel K Olszewski, Jonathan Cedernaes, Johan Alsiö, Smitha Sreedharan, Allen S Levine, Robert Fredriksson, Claude Marcus, and Helgi B Schiöth
BMC Med Genet. 2010; 11: 58. Published online 2010 April 9. doi: 10.1186/1471-2350-11-58.
PMCID: PMC2858727
MTNR1B rs10830963 is associated with fasting plasma glucose, HbA1C and impaired beta-cell function in Chinese Hans from Shanghai
Chen Liu, Ying Wu, Huaixing Li, Qibin Qi, Claudia Langenberg, Ruth JF Loos, and Xu Lin
BMC Med Genet. 2010; 11: 59. Published online 2010 April 14. doi: 10.1186/1471-2350-11-59.
PMCID: PMC2873324
Common genetic variants on chromosome 9p21 are associated with myocardial infarction and type 2 diabetes in an Italian population
Francesca Gori, Claudia Specchia, Silvia Pietri, Luisa Crociati, Simona Barlera, Monica Franciosi, Antonio Nicolucci, Stefano Signorini, Paolo Brambilla, and Maria Grazia Franzosi
BMC Med Genet. 2010; 11: 60. Published online 2010 April 19. doi: 10.1186/1471-2350-11-60.
PMCID: PMC2871267
Essential role of the N-terminal region of TFII-I in viability and behavior
Jaume Lucena, Susana Pezzi, Ester Aso, Maria C Valero, Candelas Carreiro, Pierre Dubus, Adriana Sampaio, Maria Segura, Isabel Barthelemy, Marc Y Zindel, Nuno Sousa, José L Barbero, Rafael Maldonado, Luis A Pérez-Jurado, and Victoria Campuzano
BMC Med Genet. 2010; 11: 61. Published online 2010 April 19. doi: 10.1186/1471-2350-11-61.
PMCID: PMC2865459
Genetic variants associated with fasting blood lipids in the U.S. population: Third National Health and Nutrition Examination Survey
Man-huei Chang, Ajay Yesupriya, Renée M Ned, Patricia W Mueller, and Nicole F Dowling
BMC Med Genet. 2010; 11: 62. Published online 2010 April 20. doi: 10.1186/1471-2350-11-62.
PMCID: PMC2876148
Effect of TNF-α genetic variants and CCR5Δ32 on the vulnerability to HIV-1 infection and disease progression in Caucasian Spaniards
Sergi Veloso, Montserrat Olona, Felipe García, Pere Domingo, Carlos Alonso-Villaverde, Montserrat Broch, Joaquim Peraire, Consuelo Viladés, Montserrat Plana, Enric Pedrol, Miguel López-Dupla, Carmen Aguilar, Mar Gutiérrez, Agathe Leon, Mariona Tasias, Josep Ma Gatell, Cristóbal Richart, and Francesc Vidal
BMC Med Genet. 2010; 11: 63. Published online 2010 April 26. doi: 10.1186/1471-2350-11-63.
PMCID: PMC2877017
Custom CGH array profiling of copy number variations (CNVs) on chromosome 6p21.32 (HLA locus) in patients with venous malformations associated with multiple sclerosis
Alessandra Ferlini, Matteo Bovolenta, Marcella Neri, Francesca Gualandi, Alessandra Balboni, Anton Yuryev, Fabrizio Salvi, Donato Gemmati, Alberto Liboni, and Paolo Zamboni
BMC Med Genet. 2010; 11: 64. Published online 2010 April 28. doi: 10.1186/1471-2350-11-64.
PMCID: PMC2880319
Association and interaction of PPAR-complex gene variants with latent traits of left ventricular diastolic function
Jyh-Ming Jimmy Juang, Lisa de las Fuentes, Alan D Waggoner, C Charles Gu, and Víctor G Dávila-Román
BMC Med Genet. 2010; 11: 65. Published online 2010 April 28. doi: 10.1186/1471-2350-11-65.
PMCID: PMC2874543
Additive effects of LPL, APOA5 and APOE variant combinations on triglyceride levels and hypertriglyceridemia: results of the ICARIA genetic sub-study
María-José Ariza, Miguel-Ángel Sánchez-Chaparro, Francisco-Javier Barón, Ana-María Hornos, Eva Calvo-Bonacho, José Rioja, Pedro Valdivielso, José-Antonio Gelpi, and Pedro González-Santos
BMC Med Genet. 2010; 11: 66. Published online 2010 April 29. doi: 10.1186/1471-2350-11-66.
PMCID: PMC2877669
Screening mutations in myosin binding protein C3 gene in a cohort of patients with Hypertrophic Cardiomyopathy
María Isabel Rodríguez-García, Lorenzo Monserrat, Martín Ortiz, Xusto Fernández, Laura Cazón, Lucía Núñez, Roberto Barriales-Villa, Emilia Maneiro, Elena Veira, Alfonso Castro-Beiras, and Manuel Hermida-Prieto
BMC Med Genet. 2010; 11: 67. Published online 2010 April 30. doi: 10.1186/1471-2350-11-67.
PMCID: PMC2880974
PedHunter 2.0 and its usage to characterize the founder structure of the Old Order Amish of Lancaster County
Woei-Jyh Lee, Toni I Pollin, Jeffrey R O'Connell, Richa Agarwala, and Alejandro A Schäffer
BMC Med Genet. 2010; 11: 68. Published online 2010 May 2. doi: 10.1186/1471-2350-11-68.
PMCID: PMC2880975
Large-scale association analysis of TNF/LTA gene region polymorphisms in type 2 diabetes
Vesna Boraska, Nigel W Rayner, Christopher J Groves, Timothy M Frayling, Mahamadou Diakite, Kirk A Rockett, Dominic P Kwiatkowski, Aaron G Day-Williams, Mark I McCarthy, and Eleftheria Zeggini
BMC Med Genet. 2010; 11: 69. Published online 2010 May 6. doi: 10.1186/1471-2350-11-69.
PMCID: PMC2873325
Novel MLPA procedure using self-designed probes allows comprehensive analysis for CNVs of the genes involved in Hirschsprung disease
Avencia Sánchez-Mejías, Rocio Núñez-Torres, Raquel M Fernández, Guillermo Antiñolo, and Salud Borrego
BMC Med Genet. 2010; 11: 71. Published online 2010 May 11. doi: 10.1186/1471-2350-11-71.
PMCID: PMC2877671
Submicroscopic subtelomeric aberrations in Chinese patients with unexplained developmental delay/mental retardation
Ye Wu, Taoyun Ji, Jingmin Wang, Jing Xiao, Huifang Wang, Jie Li, Zhijie Gao, Yanling Yang, Bin Cai, Liwen Wang, Zhongshu Zhou, Lili Tian, Xiaozhu Wang, Nan Zhong, Jiong Qin, Xiru Wu, and Yuwu Jiang
BMC Med Genet. 2010; 11: 72. Published online 2010 May 11. doi: 10.1186/1471-2350-11-72.
PMCID: PMC2892449
SCN5A allelic expression imbalance in African-Americans heterozygous for the common variant p.Ser1103Tyr
Stacy AS Killen, Jennifer Kunic, Lily Wang, Adele Lewis, Bruce P Levy, Michael J Ackerman, and Alfred L George, Jr
BMC Med Genet. 2010; 11: 74. Published online 2010 May 14. doi: 10.1186/1471-2350-11-74.
PMCID: PMC2891713
Common polymorphisms of calpain-10 and the risk of Type 2 Diabetes in a Tunisian Arab population: a case-control study
Intissar Ezzidi, Amira Turki, Safia Messaoudi, Molka Chaieb, Maha Kacem, Ghada M Al-Khateeb, Touhami Mahjoub, Wassim Y Almawi, and Nabil Mtiraoui
BMC Med Genet. 2010; 11: 75. Published online 2010 May 15. doi: 10.1186/1471-2350-11-75.
PMCID: PMC2885359
Evaluation of 6 candidate genes on chromosome 11q23 for coeliac disease susceptibility: a case control study
Karen Brophy, Anthony W Ryan, Graham Turner, Valerie Trimble, Kunal D Patel, Colm O'Morain, Nicholas P Kennedy, Brian Egan, Eimear Close, Garrett Lawlor, Padraic MacMathuna, Fiona M Stevens, Mohamed Abuzakouk, Conleth Feighery, Dermot Kelleher, and Ross McManus
BMC Med Genet. 2010; 11: 76. Published online 2010 May 17. doi: 10.1186/1471-2350-11-76.
PMCID: PMC2880976
LINE-1 methylation is inherited in familial testicular cancer kindreds
Lisa Mirabello, Sharon A Savage, Larissa Korde, Shahinaz M Gadalla, and Mark H Greene
BMC Med Genet. 2010; 11: 77. Published online 2010 May 17. doi: 10.1186/1471-2350-11-77.
PMCID: PMC2880977
No association between polymorphisms of WNT2 and schizophrenia in a Korean population
Hak-Jae Kim, Jin Kyung Park, Su Kang Kim, Sung Wook Kang, Jong Woo Kim, Hyun-Kyung Park, Ah-Rang Cho, Ji Young Song, and Joo-Ho Chung
BMC Med Genet. 2010; 11: 78. Published online 2010 May 24. doi: 10.1186/1471-2350-11-78.
PMCID: PMC2887425
Screening mutations of OTOF gene in Chinese patients with auditory neuropathy, including a familial case of temperature-sensitive auditory neuropathy
Da-Yong Wang, Yi-Chen Wang, Dominique Weil, Ya-Li Zhao, Shao-Qi Rao, Liang Zong, Yu-Bin Ji, Qiong Liu, Jian-Qiang Li, Huan-Ming Yang, Yan Shen, Cindy Benedict-Alderfer, Qing-Yin Zheng, Christine Petit, and Qiu-Ju Wang
BMC Med Genet. 2010; 11: 79. Published online 2010 May 26. doi: 10.1186/1471-2350-11-79.
PMCID: PMC2901213
Effect of BRCA2 sequence variants predicted to disrupt exonic splice enhancers on BRCA2 transcripts
Phillip J Whiley, Christopher A Pettigrew, Brooke L Brewster, Logan C Walker, Amanda B Spurdle, and Melissa A Brown
BMC Med Genet. 2010; 11: 80. Published online 2010 May 28. doi: 10.1186/1471-2350-11-80.
PMCID: PMC2897790
Implication of genetic variants near SLC30A8, HHEX, CDKAL1, CDKN2A/B, IGF2BP2, FTO, TCF2, KCNQ1, and WFS1 in Type 2 Diabetes in a Chinese population
Xueyao Han, Yingying Luo, Qian Ren, Xiuying Zhang, Fang Wang, Xiuqin Sun, Xianghai Zhou, and Linong Ji
BMC Med Genet. 2010; 11: 81. Published online 2010 May 28. doi: 10.1186/1471-2350-11-81.
PMCID: PMC2896346
The polymorphism rs3024505 proximal to IL-10 is associated with risk of ulcerative colitis and Crohns disease in a Danish case-control study
Vibeke Andersen, Anja Ernst, Jane Christensen, Mette Østergaard, Bent A Jacobsen, Anne Tjønneland, Henrik B Krarup, and Ulla Vogel
BMC Med Genet. 2010; 11: 82. Published online 2010 May 28. doi: 10.1186/1471-2350-11-82.
PMCID: PMC2891714
Lack of association between the GRP78 polymorphisms in the promoter and 3' UTR and susceptibility to chronic HBV infection in a Chinese Han population
Xiao Zhu, Dong-Pei Li, Wen-Guo Fan, Marie CM Lin, Jin-Long Wang, Sheng-Qu Lin, Jian-Qing Huang, and Hsiang-Fu Kung
BMC Med Genet. 2010; 11: 83. Published online 2010 June 2. doi: 10.1186/1471-2350-11-83.
PMCID: PMC2901214
No association between variation in the NR4A1 gene locus and metabolic traits in white subjects at increased risk for type 2 diabetes
Karsten Müssig, Fausto Machicao, Jürgen Machann, Fritz Schick, Claus D Claussen, Norbert Stefan, Andreas Fritsche, Hans-Ulrich Häring, and Harald Staiger
BMC Med Genet. 2010; 11: 84. Published online 2010 June 4. doi: 10.1186/1471-2350-11-84.
PMCID: PMC2894787
Matrix metalloproteinase-9 gene polymorphisms in nasal polyposis
Ling-Feng Wang, Chen-Yu Chien, Chih-Feng Tai, Wen-Rei Kuo, Edward Hsi, and Suh-Hang Hank Juo
BMC Med Genet. 2010; 11: 85. Published online 2010 June 9. doi: 10.1186/1471-2350-11-85.
PMCID: PMC2896930
Association of obesity risk SNPs in PCSK1 with insulin sensitivity and proinsulin conversion
Martin Heni, Axel Haupt, Silke A Schäfer, Caroline Ketterer, Claus Thamer, Fausto Machicao, Norbert Stefan, Harald Staiger, Hans-Ulrich Häring, and Andreas Fritsche
BMC Med Genet. 2010; 11: 86. Published online 2010 June 9. doi: 10.1186/1471-2350-11-86.
PMCID: PMC2898666
1Novel MEFV transcripts in Familial Mediterranean fever patients and controls
Myrna Medlej-Hashim, Nancy Nehme, Eliane Chouery, Nadine Jalkh, and André Megarbane
BMC Med Genet. 2010; 11: 87. Published online 2010 June 9. doi: 10.1186/1471-2350-11-87.
PMCID: PMC2894788
A gene-wide investigation on polymorphisms in the taste receptor 2R14 (TAS2R14) and susceptibility to colorectal cancer
Daniele Campa, Pavel Vodicka, Barbara Pardini, Alessio Naccarati, Maura Carrai, Ludmila Vodickova, Jan Novotny, Kari Hemminki, Asta Försti, Roberto Barale, and Federico Canzian
BMC Med Genet. 2010; 11: 88. Published online 2010 June 9. doi: 10.1186/1471-2350-11-88.
PMCID: PMC2893173
Nuclear Factor (NF) κB polymorphism is associated with heart function in patients with heart failure
Diogo GB Santos, Marina F Resende, José G Mill, Alfredo J Mansur, José E Krieger, and Alexandre C Pereira
BMC Med Genet. 2010; 11: 89. Published online 2010 June 9. doi: 10.1186/1471-2350-11-89.
PMCID: PMC2897791
Maternal angiotensinogen (AGT) haplotypes, fetal renin (REN) haplotypes and risk of preeclampsia; estimation of gene-gene interaction from family-triad data
Hege K Vefring, Line Wee, Astanand Jugessur, Håkon K Gjessing, Stein T Nilsen, and Rolv T Lie
BMC Med Genet. 2010; 11: 90. Published online 2010 June 10. doi: 10.1186/1471-2350-11-90.
PMCID: PMC2901215
The CTLA4 variants may interact with the IL23R- and NOD2-conferred risk in development of Crohn's disease
Ondrej Hradsky, Petra Dusatkova, Martin Lenicek, Jiri Bronsky, Jiri Nevoral, Libor Vitek, Milan Lukas, Ivana Zeniskova, and Ondrej Cinek
BMC Med Genet. 2010; 11: 91. Published online 2010 June 10. doi: 10.1186/1471-2350-11-91.
PMCID: PMC2894789
Low penetrance of a SDHB mutation in a large Dutch paraganglioma family
Frederik J Hes, Marjan M Weiss, Sanne A Woortman, Noel F de Miranda, Patrick A van Bunderen, Bert A Bonsing, Marcel PM Stokkel, Hans Morreau, Johannes A Romijn, Jeroen C Jansen, Annette HJT Vriends, Jean-Pierre L Bayley, and Eleonora PM Corssmit
BMC Med Genet. 2010; 11: 92. Published online 2010 June 11. doi: 10.1186/1471-2350-11-92.
PMCID: PMC2891715
Sex-differential genetic effect of phosphodiesterase 4D (PDE4D) on carotid atherosclerosis
Yi-Chu Liao, Hsiu-Fen Lin, Yuh-Cherng Guo, Ming-Lung Yu, Ching-Kuan Liu, and Suh-Hang Hank Juo
BMC Med Genet. 2010; 11: 93. Published online 2010 June 12. doi: 10.1186/1471-2350-11-93.
PMCID: PMC2895592
Association of the genetic polymorphisms of the ACE gene and the eNOS gene with lupus nephropathy in northern Chinese population
X Li, J An, R Guo, Z Jin, Y Li, Y Zhao, F Lu, H Lian, P Liu, Y Zhao, and X Jin
BMC Med Genet. 2010; 11: 94. Published online 2010 June 14. doi: 10.1186/1471-2350-11-94.
PMCID: PMC2903533
The role of height-associated loci identified in genome wide association studies in the determination of pediatric stature
Jianhua Zhao, Mingyao Li, Jonathan P Bradfield, Haitao Zhang, Frank D Mentch, Kai Wang, Patrick M Sleiman, Cecilia E Kim, Joseph T Glessner, Cuiping Hou, Brendan J Keating, Kelly A Thomas, Maria L Garris, Sandra Deliard, Edward C Frackelton, F George Otieno, Rosetta M Chiavacci, Robert I Berkowitz, Hakon Hakonarson, and Struan FA Grant
BMC Med Genet. 2010; 11: 96. Published online 2010 June 14. doi: 10.1186/1471-2350-11-96.
PMCID: PMC2894790
Association study of genetic variants in eight genes/loci with type 2 diabetes in a Han Chinese population
Ying Lin, Pengqiu Li, Li Cai, Ben Zhang, Xin Tang, Xuejun Zhang, Ying Li, Yang Xian, Yang Yang, Li Wang, Fang Lu, Xiaoqi Liu, Shaoqin Rao, Ming Chen, Shi Ma, Yi Shi, Mingjing Bao, Jichuan Wu, Yan Yang, Jiyun Yang, and Zhenglin Yang
BMC Med Genet. 2010; 11: 97. Published online 2010 June 15. doi: 10.1186/1471-2350-11-97.
PMCID: PMC2894791
The impact of CFNS-causing EFNB1 mutations on ephrin-B1 function
Roman Makarov, Bernhard Steiner, Zoran Gucev, Velibor Tasic, Peter Wieacker, and Ilse Wieland
BMC Med Genet. 2010; 11: 98. Published online 2010 June 17. doi: 10.1186/1471-2350-11-98.
PMCID: PMC2901216
Association of IL1A and IL1B loci with primary open angle glaucoma
Suddhasil Mookherjee, Deblina Banerjee, Subhadip Chakraborty, Antara Banerjee, Indranil Mukhopadhyay, Abhijit Sen, and Kunal Ray
BMC Med Genet. 2010; 11: 99. Published online 2010 June 19. doi: 10.1186/1471-2350-11-99.
PMCID: PMC2909939
Search for copy number variants in chromosomes 15q11-q13 and 22q11.2 in obsessive compulsive disorder
Richard Delorme, Daniel Moreno-De-Luca, Aurélie Gennetier, Wolfgang Maier, Pauline Chaste, Rainald Mössner, Hans Jörgen Grabe, Stephan Ruhrmann, Peter Falkai, Marie-Christine Mouren, Marion Leboyer, Michael Wagner, and Catalina Betancur
BMC Med Genet. 2010; 11: 100. Published online 2010 June 21. doi: 10.1186/1471-2350-11-100.
PMCID: PMC2909937
Prevalence of 22q11.2 microdeletion in 146 patients with cardiac malformation in a referral hospital of North India
Ashutosh Halder, Manish Jain, Isha Chaudhary, and Madhulika Kabra
BMC Med Genet. 2010; 11: 101. Published online 2010 June 23. doi: 10.1186/1471-2350-11-101.
PMCID: PMC2912258
Application of a target array Comparative Genomic Hybridization to prenatal diagnosis
Ji Hyeon Park, Jung Hoon Woo, Sung Han Shim, Song-Ju Yang, Young Min Choi, Kap-Seok Yang, and Dong Hyun Cha
BMC Med Genet. 2010; 11: 102. Published online 2010 June 24. doi: 10.1186/1471-2350-11-102.
PMCID: PMC2909938
Common variants in the regulative regions of GRIA1 and GRIA3 receptor genes are associated with migraine susceptibility
Daniela Formicola, Andrea Aloia, Simone Sampaolo, Olimpia Farina, Daria Diodato, Lyn R Griffiths, Fernando Gianfrancesco, Giuseppe Di Iorio, and Teresa Esposito
BMC Med Genet. 2010; 11: 103. Published online 2010 June 25. doi: 10.1186/1471-2350-11-103.
PMCID: PMC2909201
Genetic evidence of multiple loci in dystocia - difficult labour
Michael Algovik, Katja Kivinen, Hanna Peterson, Magnus Westgren, and Juha Kere
BMC Med Genet. 2010; 11: 105. Published online 2010 June 30. doi: 10.1186/1471-2350-11-105.
PMCID: PMC2914646
The common rs9939609 variant of the fat mass and obesity-associated gene is associated with obesity risk in children and adolescents of Beijing, China
Bo Xi, Yue Shen, Meixian Zhang, Xin Liu, Xiaoyuan Zhao, Lijun Wu, Hong Cheng, Dongqing Hou, Klaus Lindpaintner, Lisheng Liu, Jie Mi, and Xingyu Wang
BMC Med Genet. 2010; 11: 107. Published online 2010 July 5. doi: 10.1186/1471-2350-11-107.
PMCID: PMC2914647
Mutation screening of NOS1AP gene in a large sample of psychiatric patients and controls
Richard Delorme, Catalina Betancur, Isabelle Scheid, Henrik Anckarsäter, Pauline Chaste, Stéphane Jamain, Franck Schuroff, Gudrun Nygren, Evelyn Herbrecht, Anne Dumaine, Marie Christine Mouren, Maria Råstam, Marion Leboyer, Christopher Gillberg, and Thomas Bourgeron
BMC Med Genet. 2010; 11: 108. Published online 2010 July 5. doi: 10.1186/1471-2350-11-108.
PMCID: PMC2919462
Estrogen Receptor-Beta Gene Polymorphism in women with Breast Cancer at the Imam Khomeini Hospital Complex, Iran
Sakineh Abbasi
BMC Med Genet. 2010; 11: 109. Published online 2010 July 7. doi: 10.1186/1471-2350-11-109.
PMCID: PMC2911428
Osteopoikilosis and multiple exostoses caused by novel mutations in LEMD3 and EXT1 genes respectively - coincidence within one family
Sevjidmaa Baasanjav, Aleksander Jamsheer, Mateusz Kolanczyk, Denise Horn, Tomasz Latos, Katrin Hoffmann, Anna Latos-Bielenska, and Stefan Mundlos
BMC Med Genet. 2010; 11: 110. Published online 2010 July 9. doi: 10.1186/1471-2350-11-110.
PMCID: PMC2912259
FOXP2 gene and language impairment in schizophrenia: association and epigenetic studies
Amparo Tolosa, Julio Sanjuán, Adam M Dagnall, María D Moltó, Neus Herrero, and Rosa de Frutos
BMC Med Genet. 2010; 11: 114. Published online 2010 July 22. doi: 10.1186/1471-2350-11-114.
PMCID: PMC2918571
Genomic characterization of large rearrangements of the LDLR gene in Czech patients with familial hypercholesterolemia
Radan Goldmann, Lukáš Tichý, Tomáš Freiberger, Petra Zapletalová, Ondřej Letocha, Vladimír Soška, Jiří Fajkus, and Lenka Fajkusová
BMC Med Genet. 2010; 11: 115. Published online 2010 July 27. doi: 10.1186/1471-2350-11-115.
PMCID: PMC2923121
Effects of MCF2L2, ADIPOQ and SOX2 genetic polymorphisms on the development of nephropathy in type 1 Diabetes Mellitus
Dongying Zhang, Suad Efendic, Kerstin Brismar, and Harvest F Gu
BMC Med Genet. 2010; 11: 116. Published online 2010 July 28. doi: 10.1186/1471-2350-11-116.
PMCID: PMC2919463
Hereditary Hemochromatosis (HFE) genotypes in heart failure: Relation to etiology and prognosis
Daniel V Møller, Redi Pecini, Finn Gustafsson, Christian Hassager, Paula Hedley, Cathrine Jespersgaard, Christian Torp-Pedersen, Michael Christiansen, and Lars V Køber
BMC Med Genet. 2010; 11: 117. Published online 2010 July 29. doi: 10.1186/1471-2350-11-117.
PMCID: PMC2920247
A case-control analysis of common variants in GIP with type 2 diabetes and related biochemical parameters in a South Indian population
Divya Sugunan, Anup K Nair, Harish Kumar, and Anilkumar Gopalakrishnapillai
BMC Med Genet. 2010; 11: 118. Published online 2010 July 30. doi: 10.1186/1471-2350-11-118.
PMCID: PMC2920866
Replication of the association of chromosomal region 9p21.3 with generalized aggressive periodontitis (gAgP) using an independent case-control cohort
Florian D Ernst, Katharina Uhr, Alexander Teumer, Jutta Fanghänel, Susanne Schulz, Barbara Noack, Jose Gonzales, Stefan Reichert, Peter Eickholz, Birte Holtfreter, Peter Meisel, Gerard J Linden, Georg Homuth, and Thomas Kocher
BMC Med Genet. 2010; 11: 119. Published online 2010 August 9. doi: 10.1186/1471-2350-11-119.
PMCID: PMC2924866
Association of the apolipoprotein A5 gene -1131 T>C polymorphism with fasting blood lipids: a meta-analysis in 37859 subjects
Tongfeng Zhao and Jiangpei Zhao
BMC Med Genet. 2010; 11: 120. Published online 2010 August 10. doi: 10.1186/1471-2350-11-120.
PMCID: PMC2924867
Identification of a novel homozygous nonsense mutation in EYS in a Chinese family with autosomal recessive retinitis pigmentosa
Yukan Huang, Jing Zhang, Chang Li, Guohua Yang, Mugen Liu, Qing K Wang, and Zhaohui Tang
BMC Med Genet. 2010; 11: 121. Published online 2010 August 10. doi: 10.1186/1471-2350-11-121.
PMCID: PMC2927534
Asthma-susceptibility variants identified using probands in case-control and family-based analyses
Blanca E Himes, Jessica Lasky-Su, Ann C Wu, Jemma B Wilk, Gary M Hunninghake, Barbara Klanderman, Amy J Murphy, Ross Lazarus, Manuel E Soto-Quiros, Lydiana Avila, Juan C Celedón, Christoph Lange, George T O'Connor, Benjamin A Raby, Edwin K Silverman, and Scott T Weiss
BMC Med Genet. 2010; 11: 122. Published online 2010 August 10. doi: 10.1186/1471-2350-11-122.
PMCID: PMC2927535
Genome wide screen identifies microsatellite markers associated with acute adverse effects following radiotherapy in cancer patients
Yuichi Michikawa, Tomo Suga, Atsuko Ishikawa, Hideki Hayashi, Akira Oka, Hidetoshi Inoko, Mayumi Iwakawa, and Takashi Imai
BMC Med Genet. 2010; 11: 123. Published online 2010 August 11. doi: 10.1186/1471-2350-11-123.
PMCID: PMC2928773
Obesity and diabetes genes are associated with being born small for gestational age: Results from the Auckland Birthweight Collaborative study
Angharad R Morgan, John MD Thompson, Rinki Murphy, Peter N Black, Wen-Jiun Lam, Lynnette R Ferguson, and Ed A Mitchell
BMC Med Genet. 2010; 11: 125. Published online 2010 August 16. doi: 10.1186/1471-2350-11-125.
PMCID: PMC2928774
Correction
Mutations in epidermal growth factor receptor and K-ras in Chinese patients with colorectal cancer
Zuo Yunxia, Cao Jun, Zhu Guanshan, Lu Yachao, Zhou Xueke, and Li Jin
BMC Med Genet. 2010; 11: 95. Published online 2010 June 14. doi: 10.1186/1471-2350-11-95.
PMCID: PMC2895593
Corrects: Zuo Yunxia, et al. Mutations in epidermal growth factor receptor and K-ras in Chinese patients with colorectal cancer. BMC Med Genet. 2010; 11: 34.
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