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Genetic polymorphisms at SIRT1 and FOXO1 are associated with carotid atherosclerosis in the SAPHIR cohort.
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- BMC Medical Genetics, 2014, v. 15, n. 1, p. 1, doi. 10.1186/s12881-014-0112-7
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- Article
Expanded spectrum of exon 33 and 34 mutations in SRCAP and follow-up in patients with Floating-Harbor syndrome
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- BMC Medical Genetics, 2014, v. 15, n. 1, p. 127, doi. 10.1186/s12881-014-0127-0
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Erratum to: high-resolution SNP array analysis of patients with developmental disorder and normal array CGH result.
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- BMC Medical Genetics, 2014, v. 15, n. 1, p. 124, doi. 10.1186/s12881-014-0124-3
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Left ventricular diastolic function associated with common genetic variation in ATP12A in a general population.
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- BMC Medical Genetics, 2014, v. 15, n. 1, p. 2, doi. 10.1186/s12881-014-0121-6
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- Article
The chromosome 9p21 variant interacts with vegetable and wine intake to influence the risk of cardiovascular disease: a population based cohort study.
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- BMC Medical Genetics, 2014, v. 15, n. 1, p. 1, doi. 10.1186/s12881-014-0138-x
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Molecular and clinical analyses of 16q24.1 duplications involving FOXF1 identify an evolutionarily unstable large minisatellite
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- BMC Medical Genetics, 2014, v. 15, n. 1, p. 128, doi. 10.1186/s12881-014-0128-z
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Single nucleotide polymorphisms in DNA repair genes as risk factors associated to prostate cancer progression.
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- BMC Medical Genetics, 2014, v. 15, n. 1, p. 224, doi. 10.1186/s12881-014-0143-0
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- Article
Duplication 9p and their implication to phenotype.
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- BMC Medical Genetics, 2014, v. 15, n. 1, p. 207, doi. 10.1186/s12881-014-0142-1
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Clinical and GAA gene mutation analysis in mainland Chinese patients with lateonset Pompe disease: identifying c.2238G~>~C as the most common mutation.
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- BMC Medical Genetics, 2014, v. 15, n. 1, p. 190, doi. 10.1186/s12881-014-0141-2
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The impact of coronary artery disease risk loci on ischemic heart failure severity and prognosis: association analysis in the COntrolled ROsuvastatin multiNAtional trial in heart failure (CORONA).
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- BMC Medical Genetics, 2014, v. 15, n. 1, p. 172, doi. 10.1186/s12881-014-0140-3
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Mutations in NFKB2 and potential genetic heterogeneity in patients with DAVID syndrome, having variable endocrine and immune deficiencies.
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- BMC Medical Genetics, 2014, v. 15, n. 1, p. 156, doi. 10.1186/s12881-014-0139-9
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Associations between variants on ADIPOQ and ADIPOR1 with colorectal cancer risk: a chinese case-control study and updated meta-analysis.
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- BMC Medical Genetics, 2014, v. 15, n. 1, p. 135, doi. 10.1186/s12881-014-0137-y
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- Article
Protective variant associated with alcohol dependence in a Mexican American cohort.
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- BMC Medical Genetics, 2014, v. 15, n. 1, p. 115, doi. 10.1186/s12881-014-0136-z
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Recessive thrombocytopenia likely due to a homozygous pathogenic variant in the FYB gene: case report.
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- BMC Medical Genetics, 2014, v. 15, n. 1, p. 104, doi. 10.1186/s12881-014-0135-0
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A novel AP4M1 mutation in autosomal recessive cerebral palsy syndrome and clinical expansion of AP-4 deficiency.
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- BMC Medical Genetics, 2014, v. 15, n. 1, p. 69, doi. 10.1186/s12881-014-0133-2
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A systematic approach to the reporting of medically relevant findings from whole genome sequencing.
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- BMC Medical Genetics, 2014, v. 15, n. 1, p. 82, doi. 10.1186/s12881-014-0134-1
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- Article
Complex phenotype with social communication disorder caused by mosaic supernumerary ring chromosome 19p.
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- BMC Medical Genetics, 2014, v. 15, n. 1, p. 59, doi. 10.1186/s12881-014-0132-3
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- Article
Familial imbalance in 16p13.11 leads to a dosage compensation rearrangement in an unaffected carrier.
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- BMC Medical Genetics, 2014, v. 15, n. 1, p. 2, doi. 10.1186/s12881-014-0116-3
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- Article
Genetic associations of Nrf2-encoding NFE2L2 variants with Parkinson's disease - a multicenter study.
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- BMC Medical Genetics, 2014, v. 15, n. 1, p. 33, doi. 10.1186/s12881-014-0131-4
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PCR amplification of a triple-repeat genetic target directly from whole blood in 15 minutes as a proof-of-principle PCR study for direct sample analysis for a clinically relevant target.
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- BMC Medical Genetics, 2014, v. 15, n. 1, p. 15, doi. 10.1186/s12881-014-0130-5
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Identification of novel PKD1 and PKD2 mutations in Korean patients with autosomal dominant polycystic kidney disease.
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- BMC Medical Genetics, 2014, v. 15, n. 1, p. 1, doi. 10.1186/s12881-014-0129-y
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- Article
Cryptic FMR1 mosaic deletion in a phenotypically normal mother of a boy with fragile X syndrome: case report
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- BMC Medical Genetics, 2014, v. 15, n. 1, p. 125, doi. 10.1186/s12881-014-0125-2
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The association of polymorphisms of TLR4 and CD14 genes with susceptibility to sepsis in a Chinese population
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- BMC Medical Genetics, 2014, v. 15, n. 1, p. 123, doi. 10.1186/s12881-014-0123-4
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Arterial Tortuosity Syndrome: homozygosity for two novel and one recurrent SLC2A10 missense mutations in three families with severe cardiopulmonary complications in infancy and a literature review.
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- BMC Medical Genetics, 2014, v. 15, n. 1, p. 2, doi. 10.1186/s12881-014-0122-5
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Meta-analysis of Hsa-mir-499 polymorphism (rs3746444) for cancer risk: evidence from 31 case-control studies
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- BMC Medical Genetics, 2014, v. 15, n. 1, p. 126, doi. 10.1186/s12881-014-0126-1
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A study of genes encoding cytokines (IL6, IL10, TNF), cytokine receptors (IL6R, IL6ST), and glucocorticoid receptor (NR3C1) and susceptibility to bronchopulmonary dysplasia
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- BMC Medical Genetics, 2014, v. 15, n. 1, p. 120, doi. 10.1186/s12881-014-0120-7
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Fragile X protein in newborn dried blood spots.
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- BMC Medical Genetics, 2014, v. 15, n. 1, p. 2, doi. 10.1186/s12881-014-0119-0
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A comprehensive evaluation of the role of genetic variation in follicular lymphoma survival.
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- BMC Medical Genetics, 2014, v. 15, n. 1, p. 2, doi. 10.1186/s12881-014-0113-6
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MiR-146a rs2910164 G/C polymorphism and gastric cancer susceptibility: a meta-analysis.
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- BMC Medical Genetics, 2014, v. 15, n. 1, p. 2, doi. 10.1186/s12881-014-0117-2
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Paraganglioma and pheochromocytoma upon maternal transmission of SDHD mutations.
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- BMC Medical Genetics, 2014, v. 15, n. 1, p. 2, doi. 10.1186/s12881-014-0111-8
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Genetic characterization of Spinocerebellar ataxia 1 in a South Indian cohort.
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- BMC Medical Genetics, 2014, v. 15, n. 1, p. 2, doi. 10.1186/s12881-014-0114-5
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Genome-wide linkage and exome analyses identify variants of HMCN1 for splenic epidermoid cyst.
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- BMC Medical Genetics, 2014, v. 15, n. 1, p. 2, doi. 10.1186/s12881-014-0115-4
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Mapping the deletion endpoints in individuals with 22q11.2 Deletion Syndrome by droplet digital PCR.
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- BMC Medical Genetics, 2014, v. 15, n. 1, p. 2, doi. 10.1186/s12881-014-0106-5
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A novel single base pair duplication in WDR62 causes primary microcephaly.
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- BMC Medical Genetics, 2014, v. 15, n. 1, p. 2, doi. 10.1186/s12881-014-0107-4
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Detection of allele specific difference of IL28B mRNA expression.
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- BMC Medical Genetics, 2014, v. 15, n. 1, p. 2, doi. 10.1186/s12881-014-0104-7
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Replication and exploratory analysis of 24 candidate risk polymorphisms for neural tube defects.
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- BMC Medical Genetics, 2014, v. 15, n. 1, p. 2, doi. 10.1186/s12881-014-0102-9
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- Article
Meta-analysis of diabetic nephropathy associated genetic variants in inflammation and angiogenesis involved in different biochemical pathways.
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- BMC Medical Genetics, 2014, v. 15, n. 1, p. 2, doi. 10.1186/s12881-014-0103-8
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- Article
Association of cholesteryl ester transfer protein (CETP) gene polymorphism, high density lipoprotein cholesterol and risk of coronary artery disease: a meta-analysis using a Mendelian randomization approach.
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- BMC Medical Genetics, 2014, v. 15, n. 1, p. 118, doi. 10.1186/s12881-014-0118-1
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- Article
A novel GLI3 Mutation Affecting the Zinc Finger Domain Leads to Isolated Polydactyly.
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- BMC Medical Genetics, 2014, v. 15, n. 1, p. 1, doi. 10.1186/s12881-014-0110-9
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- Article
CYP1B1 mutations in patients with primary congenital glaucoma from Saudi Arabia.
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- BMC Medical Genetics, 2014, v. 15, n. 1, p. 1, doi. 10.1186/s12881-014-0109-2
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- Article
Identification of genes with altered expression in male and female Schlager hypertensive mice
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- BMC Medical Genetics, 2014, v. 15, n. 1, p. 101, doi. 10.1186/s12881-014-0101-x
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Association study of two inflammation-related polymorphisms with susceptibility to hepatocellular carcinoma: a meta-analysis.
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- BMC Medical Genetics, 2014, v. 15, n. 1, p. 1, doi. 10.1186/s12881-014-0092-7
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Exome sequencing identifies a mutation in the ACTN2 gene in a family with idiopathic ventricular fibrillation, left ventricular noncompaction, and sudden death.
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- BMC Medical Genetics, 2014, v. 15, n. 1, p. 1, doi. 10.1186/s12881-014-0099-0
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- Article
Genetic determinants of glucose-6-phosphate dehydrogenase activity in Kenya.
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- BMC Medical Genetics, 2014, v. 15, n. 1, p. 1, doi. 10.1186/s12881-014-0093-6
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- Article
CYP1B1 mutations in patients with primary congenital glaucoma from Saudi Arabia.
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- BMC Medical Genetics, 2014, v. 15, n. 1, p. 1, doi. 10.1186/s12881-014-0109-2
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- Article
Increased Methylation at Differentially Methylated Region of GNAS in Infants Born to Gestational Diabetes.
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- BMC Medical Genetics, 2014, v. 15, n. 1, p. 2, doi. 10.1186/s12881-014-0108-3
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Exome sequencing identifies mutations in ABCD1 and DACH2 in two brothers with a distinct phenotype.
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- BMC Medical Genetics, 2014, v. 15, n. 1, p. 1, doi. 10.1186/s12881-014-0105-6
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- Article
Recurrent 8q13.2-13.3 microdeletions associated with Branchio-oto-renal syndrome are mediated by human endogenous retroviral (HERV) sequence blocks.
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- BMC Medical Genetics, 2014, v. 15, n. 1, p. 1, doi. 10.1186/s12881-014-0090-9
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Alternative splicing in osteoclasts and Paget's disease of bone.
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- BMC Medical Genetics, 2014, v. 15, n. 1, p. 1, doi. 10.1186/s12881-014-0098-1
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- Article
The relationship between diastolic blood pressure and coronary artery calcification is dependent on single nucleotide polymorphisms on chromosome 9p21.3.
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- BMC Medical Genetics, 2014, v. 15, n. 1, p. 1, doi. 10.1186/s12881-014-0089-2
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- Article