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A whole genome SNP genotyping by DNA microarray and candidate gene association study for kidney stone disease JOURNAL ARTICLE published December 2014 in BMC Medical Genetics |
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Interactions between genetic admixture, ethnic identity, APOE genotype and dementia prevalence in an admixed Cuban sample; a cross-sectional population survey and nested case-control study JOURNAL ARTICLE published December 2011 in BMC Medical Genetics |
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Glutathione S-Transferase Ω 1 variation does not influence age at onset of Huntington's disease JOURNAL ARTICLE published December 2004 in BMC Medical Genetics |
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Lack of association between gene polymorphisms of Angiotensin converting enzyme, Nod-like receptor 1, Toll-like receptor 4, FAS/FASL and the presence of Helicobacter pylori-induced premalignant gastric lesions and gastric cancer in Caucasians JOURNAL ARTICLE published December 2011 in BMC Medical Genetics |
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GATA2 mutation in long stand Mycobacterium kansasii infection, myelodysplasia and MonoMAC syndrome: a case-report JOURNAL ARTICLE published December 2019 in BMC Medical Genetics Research funded by Conselho Nacional de Desenvolvimento Científico e Tecnológico (#301594/2015-5,394976/2013-0) | Fundação Carlos Chagas Filho de Amparo à Pesquisa do Estado do Rio de Janeiro (#218785/2015) | Fundação de Amparo à Pesquisa do Estado de São Paulo (2013/08135-2) |
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Testicular expression of TDRD1, TDRD5, TDRD9 and TDRD12 in azoospermia JOURNAL ARTICLE published December 2020 in BMC Medical Genetics |
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Association between UCP2A55V polymorphism and risk of cardiovascular events in patients with multi-vessel coronary arterial disease JOURNAL ARTICLE published December 2013 in BMC Medical Genetics |
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Combinational analysis of linkage and exome sequencing identifies the causative mutation in a Chinese family with congenital cataract JOURNAL ARTICLE published December 2013 in BMC Medical Genetics |
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Triglyceride associated polymorphisms of the APOA5gene have very different allele frequencies in Pune, India compared to Europeans JOURNAL ARTICLE published December 2006 in BMC Medical Genetics |
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Post-lingual non-syndromic hearing loss phenotype: a polygenic case with 2 biallelic mutations in MYO15A and MITF JOURNAL ARTICLE published December 2020 in BMC Medical Genetics |
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Association of ABO polymorphisms and pancreatic Cancer/ Cardiocerebrovascular disease: a meta-analysis JOURNAL ARTICLE published December 2020 in BMC Medical Genetics Research funded by National Natural Science Foundation of China (81973113) | National Natural Science Foundation of China (81502877) | National Natural Science Foundation of China (81470153) | Tianjin Science and Technology Committee Foundation (18YFZCSY00520) |
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Compound heterozygous LPIN2 pathogenic variants in a patient with Majeed syndrome with recurrent fever and severe neutropenia: case report JOURNAL ARTICLE published December 2019 in BMC Medical Genetics |
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Osteopontin promoter polymorphisms and risk of urolithiasis: a candidate gene association and meta-analysis study JOURNAL ARTICLE published December 2020 in BMC Medical Genetics Research funded by Higher Education Commision, Pakistan (NRPU-1987) |
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Evidence for classification of c.1852_1853AA>GC in MLH1 as a neutral variant for Lynch syndrome JOURNAL ARTICLE published December 2011 in BMC Medical Genetics |
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Interaction of functional NPC1gene Polymorphism with smoking on coronary heart disease JOURNAL ARTICLE published December 2010 in BMC Medical Genetics |
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A novel study of Copy Number Variations in Hirschsprung disease using the Multiple Ligation-dependent Probe Amplification (MLPA) technique JOURNAL ARTICLE published December 2009 in BMC Medical Genetics |
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MRPS18CP2 alleles and DEFA3absence as putative chromosome 8p23.1 modifiers of hearing loss due to mtDNA mutation A1555G in the 12S rRNA gene JOURNAL ARTICLE published December 2007 in BMC Medical Genetics |
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Mutational screening of inverted formin 2 in adult-onset focal segmental glomerulosclerosis or minimal change patients from the Czech Republic JOURNAL ARTICLE published December 2018 in BMC Medical Genetics Research funded by PROGRES (Q25/LF1) | SVV (260373) |
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Progesterone Receptor (PGR) gene polymorphism is associated with susceptibility to preterm birth JOURNAL ARTICLE published December 2015 in BMC Medical Genetics |
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Effect of the rs2259816 polymorphism in the HNF1A gene on circulating levels of c-reactive protein and coronary artery disease (the ludwigshafen risk and cardiovascular health study) JOURNAL ARTICLE published December 2010 in BMC Medical Genetics |