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Volume 13;  2012

Case Reports

Atypical case of Wolfram syndrome revealed through targeted exome sequencing in a patient with suspected mitochondrial disease
Daniel S Lieber, Scott B Vafai, Laura C Horton, Nancy G Slate, Shangtao Liu, Mark L Borowsky, Sarah E Calvo, Jeremy D Schmahmann, Vamsi K Mootha
BMC Med Genet. 2012; 13: 3. Published online 2012 January 6. doi: 10.1186/1471-2350-13-3
PMCID:
PMC3281774
Abstract Full Text PDF–1.4M
Isolated brachydactyly type E caused by a HOXD13 nonsense mutation: a case report
Aleksander Jamsheer, Anna Sowińska, Leszek Kaczmarek, Anna Latos-Bieleńska
BMC Med Genet. 2012; 13: 4. Published online 2012 January 10. doi: 10.1186/1471-2350-13-4
PMCID:
PMC3278352
Abstract Full Text PDF–323K
Microdeletion del(22)(q12.2) encompassing the facial development-associated gene, MN1 (meningioma 1) in a child with Pierre-Robin sequence (including cleft palate) and neurofibromatosis 2 (NF2): a case report and review of the literature
Tom B Davidson, Pedro A Sanchez-Lara, Linda M Randolph, Mark D Krieger, Shi-Qi Wu, Ashok Panigrahy, Hiroyuki Shimada, Anat Erdreich-Epstein
BMC Med Genet. 2012; 13: 19. Published online 2012 March 22. doi: 10.1186/1471-2350-13-19
PMCID:
PMC3359208
Abstract Full Text PDF–2.5M
A mutation at IVS1 + 5 of the von Hippel-Lindau gene resulting in intron retention in transcripts is not pathogenic in a patient with a tongue cancer?: case report
Takeshi Asakawa, Mariko Esumi, Sohei Endo, Akinori Kida, Minoru Ikeda
BMC Med Genet. 2012; 13: 23. Published online 2012 March 31. doi: 10.1186/1471-2350-13-23
PMCID:
PMC3352036
Abstract Full Text PDF–1.3M

Research Articles

Association of polymorphisms in survivin gene with the risk of hepatocellular carcinoma in Chinese han population: a case control study
Yuhua Li, Jiaofeng Wang, Feng Jiang, Wenyao Lin, Wei Meng
BMC Med Genet. 2012; 13: 1. Published online 2012 January 3. doi: 10.1186/1471-2350-13-1
PMCID:
PMC3264525
Abstract Full Text PDF–275K
A genome wide association study of pulmonary tuberculosis susceptibility in Indonesians
Eileen Png, Bachti Alisjahbana, Edhyana Sahiratmadja, Sangkot Marzuki, Ron Nelwan, Yanina Balabanova, Vladyslav Nikolayevskyy, Francis Drobniewski, Sergey Nejentsev, Iskandar Adnan, Esther van de Vosse, Martin L Hibberd, Reinout van Crevel, Tom HM Ottenhoff, Mark Seielstad
BMC Med Genet. 2012; 13: 5. Published online 2012 January 13. doi: 10.1186/1471-2350-13-5
PMCID:
PMC3287960
Abstract Full Text PDF–247K Supplementary Material
The C allele of JAK2 rs4495487 is an additional candidate locus that contributes to myeloproliferative neoplasm predisposition in the Japanese population
Junko H Ohyashiki, Masayuki Yoneta, Hisashi Hisatomi, Tamiko Iwabuchi, Tomohiro Umezu, Kazuma Ohyashiki
BMC Med Genet. 2012; 13: 6. Published online 2012 January 17. doi: 10.1186/1471-2350-13-6
PMCID:
PMC3277458
Abstract Full Text PDF–305K Supplementary Material
Data mining of high density genomic variant data for prediction of Alzheimer's disease risk
Natalia Briones, Valentin Dinu
BMC Med Genet. 2012; 13: 7. Published online 2012 January 25. doi: 10.1186/1471-2350-13-7
PMCID:
PMC3355044
Abstract Full Text PDF–435K Supplementary Material
The effect of FOXA2 rs1209523 on glucose-related phenotypes and risk of type 2 diabetes in Danish individuals
Karina Banasik, Mette Hollensted, Ehm Andersson, Thomas Sparsø, Annelli Sandbæk, Torsten Lauritzen, Torben Jørgensen, Daniel R Witte, Oluf Pedersen, Torben Hansen
BMC Med Genet. 2012; 13: 10. Published online 2012 February 12. doi: 10.1186/1471-2350-13-10
PMCID:
PMC3344680
Abstract Full Text PDF–218K
The combined effect of the T2DM susceptibility genes is an important risk factor for T2DM in non-obese Japanese: a population based case-control study
Kimiko Yamakawa-Kobayashi, Maki Natsume, Shingo Aoki, Sachi Nakano, Tomoko Inamori, Nobuhiko Kasezawa, Toshinao Goda
BMC Med Genet. 2012; 13: 11. Published online 2012 February 24. doi: 10.1186/1471-2350-13-11
PMCID:
PMC3313886
Abstract Full Text PDF–251K
The mGluR5 antagonist AFQ056 does not affect methylation and transcription of the mutant FMR1 gene in vitro
Elisabetta Tabolacci, Filomena Pirozzi, Baltazar Gomez-Mancilla, Fabrizio Gasparini, Giovanni Neri
BMC Med Genet. 2012; 13: 13. Published online 2012 March 7. doi: 10.1186/1471-2350-13-13
PMCID:
PMC3320553
Abstract Full Text PDF–859K
A case-only study of gene-environment interaction between genetic susceptibility variants in NOD2 and cigarette smoking in Crohn's disease aetiology
Katherine L Helbig, Michael Nothnagel, Jochen Hampe, Tobias Balschun, Susanna Nikolaus, Stefan Schreiber, Andre Franke, Ute Nöthlings
BMC Med Genet. 2012; 13: 14. Published online 2012 March 14. doi: 10.1186/1471-2350-13-14
PMCID:
PMC3314543
Abstract Full Text PDF–237K Supplementary Material
MUC2 polymorphisms are associated with endometriosis development and infertility: a case-control study
Cherry Yin-Yi Chang, Yi Chen, Wu-Chou Lin, Chih-Mei Chen, Chih-Ping Chen, Shan-Chih Lee, Jim Jinn-Chyuan Sheu, Fuu-Jen Tsai
BMC Med Genet. 2012; 13: 15. Published online 2012 March 15. doi: 10.1186/1471-2350-13-15
PMCID:
PMC3338096
Abstract Full Text PDF–255K Supplementary Material
Polymorphic genes of detoxification and mitochondrial enzymes and risk for progressive supranuclear palsy: a case control study
Lisa F Potts, Alex C Cambon, Owen A Ross, Rosa Rademakers, Dennis W Dickson, Ryan J Uitti, Zbigniew K Wszolek, Shesh N Rai, Matthew J Farrer, David W Hein, Irene Litvan
BMC Med Genet. 2012; 13: 16. Published online 2012 March 17. doi: 10.1186/1471-2350-13-16
PMCID:
PMC3344705
Abstract Full Text PDF–247K
High resolution melting: improvements in the genetic diagnosis of hypertrophic cardiomyopathy in a Portuguese cohort
Susana Santos, Vanda Marques, Marina Pires, Leonor Silveira, Helena Oliveira, Vasco Lança, Dulce Brito, Hugo Madeira, J Fonseca Esteves, António Freitas, Isabel M Carreira, Isabel M Gaspar, Carolino Monteiro, Alexandra R Fernandes
BMC Med Genet. 2012; 13: 17. Published online 2012 March 19. doi: 10.1186/1471-2350-13-17
PMCID:
PMC3359199
Abstract Full Text PDF–1.5M Supplementary Material
An autosomal recessive leucoencephalopathy with ischemic stroke, dysmorphic syndrome and retinitis pigmentosa maps to chromosome 17q24.2-25.3
Ahmed Bouhouche, Ali Benomar, Leila Errguig, Lamiae Lachhab, Naima Bouslam, Jehanne Aasfara, Sanaa Sefiani, Layachi Chabraoui, Elmostafa El Fahime, Abdeljalil El Quessar, Mohamed Jiddane, Mohamed Yahyaoui
BMC Med Genet. 2012; 13: 18. Published online 2012 March 21. doi: 10.1186/1471-2350-13-18
PMCID:
PMC3344692
Abstract Full Text PDF–539K
The absence of dystrophin brain isoform expression in healthy human heart ventricles explains the pathogenesis of 5' X-linked dilated cardiomyopathy
Marcella Neri, Emanuele Valli, Giovanna Alfano, Matteo Bovolenta, Pietro Spitali, Claudio Rapezzi, Francesco Muntoni, Sandro Banfi, Giovanni Perini, Francesca Gualandi, Alessandra Ferlini
BMC Med Genet. 2012; 13: 20. Published online 2012 March 28. doi: 10.1186/1471-2350-13-20
PMCID:
PMC3331845
Abstract Full Text PDF–501K
Functional effects of the TMEM43 Ser358Leu mutation in the pathogenesis of arrhythmogenic right ventricular cardiomyopathy
Revathi Rajkumar, John C Sembrat, Barbara McDonough, Christine E Seidman, Ferhaan Ahmad
BMC Med Genet. 2012; 13: 21. Published online 2012 March 29. doi: 10.1186/1471-2350-13-21
PMCID:
PMC3352248
Abstract Full Text PDF–497K
Mutations in the potassium channel subunit KCNE1 are associated with early-onset familial atrial fibrillation
Morten S Olesen, Bo H Bentzen, Jonas B Nielsen, Annette B Steffensen, Jens-Peter David, Javad Jabbari, Henrik K Jensen, Stig Haunsø, Jesper H Svendsen, Nicole Schmitt
BMC Med Genet. 2012; 13: 24. Published online 2012 April 3. doi: 10.1186/1471-2350-13-24
PMCID:
PMC3359244
Abstract Full Text PDF–1.9M Supplementary Material
Non-replication study of a genome-wide association study for hypertension and blood pressure in African Americans
Srividya Kidambi, Soumitra Ghosh, Jane M Kotchen, Clarence E Grim, Shanthi Krishnaswami, Mary L Kaldunski, Allen W Cowley, Jr, Shailendra B Patel, Theodore A Kotchen
BMC Med Genet. 2012; 13: 27. Published online 2012 April 11. doi: 10.1186/1471-2350-13-27
PMCID:
PMC3349540
Abstract Full Text PDF–191K Supplementary Material
Beta catenin and cytokine pathway dysregulation in patients with manifestations of the "PTEN hamartoma tumor syndrome"
Martina Galatola, Lorella Paparo, Francesca Duraturo, Mimmo Turano, Giovanni Battista Rossi, Paola Izzo, Marina De Rosa
BMC Med Genet. 2012; 13: 28. Published online 2012 April 20. doi: 10.1186/1471-2350-13-28
PMCID:
PMC3353236
Abstract Full Text PDF–4.1M
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