Daniela Toniolo

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Publications in SciGraph latest 50 shown

  • 2017-06 Genomic analyses identify hundreds of variants associated with age at menarche and support a role for puberty timing in cancer risk in NATURE GENETICS
  • 2017-01 Common variants in CLDN14 are associated with differential excretion of magnesium over calcium in urine in PFLÜGERS ARCHIV - EUROPEAN JOURNAL OF PHYSIOLOGY
  • 2016-11 Discovery and refinement of genetic loci associated with cardiometabolic risk using dense imputation maps in NATURE GENETICS
  • 2016-06 A Genome-Wide Association Study in isolated populations reveals new genes associated to common food likings in REVIEWS IN ENDOCRINE AND METABOLIC DISORDERS
  • 2016-01-21 Genetic associations at 53 loci highlight cell types and biological pathways relevant for kidney function in NATURE COMMUNICATIONS
  • 2015-12 Genome-wide association analysis on five isolated populations identifies variants of the HLA-DOA gene associated with white wine liking in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 2015-12 Multicohort analysis of the maternal age effect on recombination in NATURE COMMUNICATIONS
  • 2015-12 Low-frequency and rare exome chip variants associate with fasting glucose and type 2 diabetes susceptibility in NATURE COMMUNICATIONS
  • 2015-12 Whole-genome sequence-based analysis of thyroid function in NATURE COMMUNICATIONS
  • 2015-11 Genome sequencing elucidates Sardinian genetic architecture and augments association analyses for lipid and blood inflammatory markers in NATURE GENETICS
  • 2015-11 Trans-ancestry genome-wide association study identifies 12 genetic loci influencing blood pressure and implicates a role for DNA methylation in NATURE GENETICS
  • 2014-12 Novel loci affecting iron homeostasis and their effects in individuals at risk for hemochromatosis in NATURE COMMUNICATIONS
  • 2013-12 The A736V TMPRSS6 polymorphism influences hepcidin and iron metabolism in chronic hemodialysis patients: TMPRSS6 and hepcidin in hemodialysis in BMC NEPHROLOGY
  • 2013-06 Genetic characterization of northeastern Italian population isolates in the context of broader European genetic diversity in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 2013-02 Genome-wide association analyses identify 18 new loci associated with serum urate concentrations in NATURE GENETICS
  • 2013-01 Small effective population size and genetic homogeneity in the Val Borbera isolate in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 2012-12 Seventy-five genetic loci influencing the human red blood cell in NATURE
  • 2012-03 Meta-analyses identify 13 loci associated with age at menopause and highlight DNA repair and immune pathways in NATURE GENETICS
  • 2011-12 New gene functions in megakaryopoiesis and platelet formation in NATURE
  • 2011-10 Genome-wide association study identifies six new loci influencing pulse pressure and mean arterial pressure in NATURE GENETICS
  • 2011-05 Association of a variant in the CHRNA5-A3-B4 gene cluster region to heavy smoking in the Italian population in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 2007-05 Epigenetic control of the critical region for premature ovarian failure on autosomal genes translocated to the X chromosome: a hypothesis in HUMAN GENETICS
  • 2006-10 Barth syndrome presenting with acute metabolic decompensation in the neonatal period in JOURNAL OF INHERITED METABOLIC DISEASE
  • 2004-10 A susceptibility gene for premature ovarian failure (POF) maps to proximal Xq28 in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 2000-07 Emerin presence in platelets in ACTA NEUROPATHOLOGICA
  • 1999-03 Mutations in the gene encoding lamin A/C cause autosomal dominant Emery-Dreifuss muscular dystrophy in NATURE GENETICS
  • 1998-07 Mutations in GDI1 are responsible for X-linked non-specific mental retardation in NATURE GENETICS
  • 1998-06 Mutations in GDI1 are responsible for X-linked non-specific mental retardation in NATURE GENETICS
  • 1996-04 A novel X-linked gene, G4.5. is responsible for Barth syndrome in NATURE GENETICS
  • 1994-12 Identification of a novel X-linked gene responsible for Emery-Dreifuss muscular dystrophy in NATURE GENETICS
  • 1994-02 G6PD Ferrara I has the same two mutations as G6PD A(-) but a distinct biochemical phenotype in HUMAN GENETICS
  • 1994 Identification of Genes and Construction of a Transcriptional Map in Xq28 in IDENTIFICATION OF TRANSCRIBED SEQUENCES
  • 1991-03 Duplications of the X chromosome in males: evidence that most parts of the X chromosome can be active in two copies in HUMAN GENETICS
  • 1991-01 Is DNA methylation of X chromosome genes stable during aging? in SOMATIC CELL AND MOLECULAR GENETICS
  • 1990-01 Stability of DNA methylation of X-chromosome genes during aging in SOMATIC CELL AND MOLECULAR GENETICS
  • 1983-07 Regulation of glucose 6-phosphate dehydrogenase expression in CHO-human fibroblast somatic cell hybrids in SOMATIC CELL GENETICS
  • 1981-12 cDNA sequences of human glucose 6-phosphate dehydrogenase cloned in pBR322 in NATURE
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