Novel frame-shift mutation in PKP2 associated with arrhythmogenic right ventricular cardiomyopathy: a case report
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Volume 16, issue 1, December 2015
117 articles in this issue
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Molecular genetic analysis of PKHD1 by next-generation sequencing in Czech families with autosomal recessive polycystic kidney disease
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Development and validation of a high throughput, closed tube method for the determination of haemoglobin alpha gene (HBA1 and HBA2) numbers by gene ratio assay copy enumeration-PCR (GRACE-PCR)
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Physical activity, smoking, and genetic predisposition to obesity in people from Pakistan: the PROMIS study
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Qualitative and quantitative analysis of FBN1 mRNA from 16 patients with Marfan Syndrome
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Placental DNA methylation at term reflects maternal serum levels of INHA and FN1, but not PAPPA, early in pregnancy
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No association between the common calcium-sensing receptor polymorphism rs1801725 and irritable bowel syndrome
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Frequency of the moyamoya-related RNF213 p.Arg4810Lys variant in 1,516 Korean individuals
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Expression analysis of the osteoarthritis genetic susceptibility locus mapping to an intron of the MCF2L gene and marked by the polymorphism rs11842874
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Genetic association analysis of miRNA SNPs implicates MIR145 in breast cancer susceptibility
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Genetic contribution of SCARB1 variants to lipid traits in African Blacks: a candidate gene association study
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Common variants in LEPR, IL6, AMD1, and NAMPT do not associate with risk of juvenile and childhood obesity in Danes: a case–control study
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A large Indian family with rearrangement of chromosome 4p16 and 3p26.3 and divergent clinical presentations
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Evolutionary context for the association of γ-globin, serum uric acid, and hypertension in African Americans
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Germline activating MTOR mutation arising through gonadal mosaicism in two brothers with megalencephaly and neurodevelopmental abnormalities
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KRAS G12D mosaic mutation in a Chinese linear nevus sebaceous syndrome infant
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Validation of a high resolution NGS method for detecting spinal muscular atrophy carriers among phase 3 participants in the 1000 Genomes Project
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Erratum to: Polymorphisms in GCKR, SLC17A1 and SLC22A12 were associated with phenotype gout in Han Chinese males: a case–control study
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Intragenic duplication in the PHKD1 gene in autosomal recessive polycystic kidney disease
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Establishing disease causality for a novel gene variant in familial dilated cardiomyopathy using a functional in-vitro assay of regulated thin filaments and human cardiac myosin
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Genetics, sleep and memory: a recall-by-genotype study of ZNF804A variants and sleep neurophysiology
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Mutation in NRAS in familial Noonan syndrome – case report and review of the literature
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A 16q deletion involving FOXF1 enhancer is associated to pulmonary capillary hemangiomatosis
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MTTP-297H polymorphism reduced serum cholesterol but increased risk of non-alcoholic fatty liver disease-a cross-sectional study
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Analysis of association among clinical features and shorter leukocyte telomere length in mitochondrial diabetes with m.3243A>G mitochondrial DNA mutation
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Relationships between putative G-quadruplex-forming sequences, RecQ helicases, and transcription
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Angiogenesis related genes NOS3, CD14, MMP3 and IL4R are associated to VEGF gene expression and circulating levels in healthy adults
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Next-generation-based targeted sequencing as an efficient tool for the study of the genetic background in Hirschsprung patients
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NPHS2 mutations account for only 15 % of nephrotic syndrome cases
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SDHC methylation in gastrointestinal stromal tumors (GIST): a case report
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Screening of genetic alterations related to non-syndromic hearing loss using MassARRAY iPLEX® technology
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Targeted exome sequencing reveals novel USH2A mutations in Chinese patients with simplex Usher syndrome
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β2-Adrenergic receptor promoter haplotype influences the severity of acute viral respiratory tract infection during infancy: a prospective cohort study
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Spinal ependymoma in a patient with Kabuki syndrome: a case report
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CHARGE syndrome due to deletion of region upstream of CHD7 gene START codon
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Insertion of an extra copy of Xq22.2 into 1p36 results in functional duplication of the PLP1 gene in a girl with classical Pelizaeus-Merzbacher disease
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Association of single nucleotide polymorphism rs3792876 in SLC22A4 gene with autoimmune thyroid disease in a Chinese Han population
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Polymorphism in microRNA-binding site in HNF1B influences the susceptibility of type 2 diabetes mellitus: a population based case–control study
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A 5.8 Mb interstitial deletion on chromosome Xq21.1 in a boy with intellectual disability, cleft palate, hearing impairment and combined growth hormone deficiency
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Novel FOXL2 mutations in two Chinese families with blepharophimosis-ptosis-epicanthus inversus syndrome
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LOXL1 gene variants and their association with pseudoexfoliation glaucoma (XFG) in Spanish patients
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The importance of distinguishing between the odds ratio and the incidence rate ratio in GWAS
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Genetic polymorphisms associated with the inflammatory response in bacterial meningitis
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A new case of de novo 6q24.2-q25.2 deletion on paternal chromosome 6 with growth hormone deficiency: a twelve-year follow-up and literature review
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KANSL1 gene disruption associated with the full clinical spectrum of 17q21.31 microdeletion syndrome
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