about
Ethylmalonic encephalopathy is caused by mutations in ETHE1, a gene encoding a mitochondrial matrix protein.Genetic determinants for methotrexate response in juvenile idiopathic arthritisGenetic association study of QT interval highlights role for calcium signaling pathways in myocardial repolarizationIdentification of a novel mutation in the myosin VIIA motor domain in a family with autosomal dominant hearing loss (DFNA11).A novel P2RX2 mutation in an Italian family affected by autosomal dominant nonsyndromic hearing loss.MRX87 family with Aristaless X dup24bp mutation and implication for polyAlanine expansions1000 Genomes-based meta-analysis identifies 10 novel loci for kidney function.Parent-of-origin-specific allelic associations among 106 genomic loci for age at menarcheGenetic landscape of populations along the Silk Road: admixture and migration patterns.Metabonomics and population studies: age-related amino acids excretion and inferring networks through the study of urine samples in two Italian isolated populations.The type 2 diabetes associated rs7903146 T allele within TCF7L2 is significantly under-represented in Hereditary Multiple Exostoses: insights into pathogenesis.Meta-analysis of genome-wide association studies identifies six new Loci for serum calcium concentrationsPhenotypic and genetic characterization of a family carrying two Xq21.1-21.3 interstitial deletions associated with syndromic hearing loss.Genome-wide association study identifies six new loci influencing pulse pressure and mean arterial pressure.Brain-derived neurotrophic factor serum levels in genetically isolated populations: gender-specific association with anxiety disorder subtypes but not with anxiety levels or Val66Met polymorphism.Genome-wide meta-analysis of common variant differences between men and women.Cigarette toxicity triggers Leber's hereditary optic neuropathy by affecting mtDNA copy number, oxidative phosphorylation and ROS detoxification pathwaysSeventy-five genetic loci influencing the human red blood cellAdult-onset Alexander disease, associated with a mutation in an alternative GFAP transcript, may be phenotypically modulated by a non-neutral HDAC6 variantGenetic variation in taste sensitivity to 6-n-propylthiouracil and its relationship to taste perception and food selection.DNA mismatch repair gene MSH6 implicated in determining age at natural menopause.Exome analysis of HIV patients submitted to dendritic cells therapeutic vaccine reveals an association of CNOT1 gene with response to the treatment.A CASQ1 founder mutation in three Italian families with protein aggregate myopathy and hyperCKaemia.Hearing function and thresholds: a genome-wide association study in European isolated populations identifies new loci and pathways.Pharmacogenetics and induction/consolidation therapy toxicities in acute lymphoblastic leukemia patients treated with AIEOP-BFM ALL 2000 protocol.Opioid Resistance Associated with CYP3A4 Hyperactivity and COMT Polymorphism in an Oncological Patient.Detection of epidermal thickening in GJB2 carriers with epidermal US.Age-related hearing loss in four Italian genetic isolates: an epidemiological study.Parsing the differences in affected with LHON: genetic versus environmental triggers of disease conversion.Otosclerosis: exclusion of linkage to the OTSC1 and OTSC2 loci in four Italian families.Excess of runs of homozygosity is associated with severe cognitive impairment in intellectual disability.A new locus (DFNA47) for autosomal dominant non-syndromic inherited hearing loss maps to 9p21-22 in a large Italian family.Carbamazepine-induced thrombocytopenic purpura in a child: Insights from a genomic analysis.A second locus mapping to 2q35-36 for familial pseudohyperkalaemia.Charcot-Marie-Tooth disease type 2C: a distinct genetic entity. Clinical and molecular characterization of the first European family.Autosomal recessive progressive myoclonus epilepsy with ataxia and mental retardation.Genetic heterogeneity of FG syndrome: a fourth locus (FGS4) maps to Xp11.4-p11.3 in an Italian family.Cohen syndrome resulting from a novel large intragenic COH1 deletion segregating in an isolated Greek island population.Next generation sequencing in nonsyndromic intellectual disability: from a negative molecular karyotype to a possible causative mutation detection.Autosomal recessive Stickler syndrome due to a loss of function mutation in the COL9A3 gene.
P50
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P1053
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