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NATURE GENETICS (PRINT)
Rivista
Codice:
E116310
ISSN:
1061-4036
Dati Generali
Dati Generali
Pubblicazioni (129)
Pulisci
Ordina Pubblicazioni:
ascendente
decrescente
A catalog of genetic loci associated with kidney function from analyses of a million individuals
Articolo
A functional variant of lymphoid tyrosine phosphatase is associated with type I diabetes.
Articolo
A gene (RPGR) with homology to the RCC1 guanine nucleotide exchange factor is mutated in X-linked retinitis pigmentosa (RP3)
Articolo
A new, tenth subunit of TFIIH is responsible for the DNA repair syndrome trichothiodystrophy group A
Articolo
A novel X-linked gene, G4.5. is responsible for Barth syndrome.
Articolo
A reference panel of 64,976 haplotypes for genotype imputation
Articolo
A synaptobrevin-like gene in the Xq28 pseudoautosomal region undergoes X inactivation
Articolo
Analysis of mammalian gene function through broad-based phenotypic screens across a consortium of mouse clinics
Articolo
Are (CTG)n expansions at the SCA8 locus rare polymorphisms?
Articolo
Association analyses of 249,796 individuals reveal 18 new loci associated with body mass index
Articolo
Association analyses of 249,796 individuals reveal 18 new loci associated with body mass index.
Articolo
Association studies of up to 1.2 million individuals yield new insights into the genetic etiology of tobacco and alcohol use
Articolo
Autoimmune-associated lymphoid tyrosine phosphatase is a gain-of-function variant
Articolo
Autoimmune-associated lymphoid tyrosine phosphatase is a gain-of-function variant
Articolo
Causal relationships among the gut microbiome, short-chain fatty acids and metabolic diseases
Articolo
Challenges and future directions for studying effects of host genetics on the gut microbiome
Articolo
Charcot-Marie-Tooth type 4B is caused by mutations in the gene encoding myotubularin-related protein-2.
Articolo
Clinical and genetic heterogeneity of autosomal Open Angle Glaucoma (OAG) in Italy.
Abstract
Common variants associated with plasma triglycerides and risk for coronary artery disease.
Articolo
Common variants at 30 loci contribute to polygenic dyslipidemia
Articolo
Common variants at ten loci modulate the QT interval duration in the QTSCD Study
Articolo
Common variants in the GDF5-BFZB region are associated with variation in human height.
Articolo
Common variants in the GDF5-UQCC region are associated with variation in human height
Articolo
Common variants near MC4R are associated with fat mass, weight and risk of obesity
Articolo
Complex genetic signatures in immune cells underlie autoimmunity and inform therapy
Articolo
Defects in the TCIRG1-encoded 116kD subunit of the vacuolar proton pump are responsible for a subset of human autosomal recessive osteopetrosis.
Articolo
Discovery and refinement of loci associated with lipid levels.
Articolo
Disease model discovery from 3,328 gene knockouts by the International Mouse Phenotyping Consortium
Articolo
Durum wheat genome highlights past domestication signatures and future improvement targets
Articolo
EMPReSS: standardised phenotype screens for functional annotation of the mouse genome
Articolo
Effect of host genetics on the gut microbiome in 7,738 participants of the Dutch Microbiome Project
Articolo
Epilepsy and brain abnormalities in mice lacking the Otx1 gene.
Articolo
Exome sequencing identifies mutation in CNOT3 and ribosomal genes RPL5 and RPL10 in T-cell acute lymphoblastic leukemia
Articolo
Exome-wide association study of plasma lipids in > 300,000 individuals
Articolo
Fragile X syndrome without CCG amplification has an FMR1 deletion
Articolo
Frataxin fracas
Articolo
GWAS meta-analysis of over 29,000 people with epilepsy identifies 26 risk loci and subtype-specific genetic architecture
Articolo
Gain of function in CDKN1C
Articolo
Gene discovery and polygenic prediction from a genome-wide association study of educational attainment in 1.1 million individuals
Articolo
Genetic association study of exfoliation syndrome identifies a protective rare variant at LOXL1 and five new susceptibility loci
Articolo
Genetic loci influencing kidney function and chronic kidney disease
Articolo
Genetic variants associated with subjective well-being, depressive symptoms, and neuroticism identified through genome-wide analyses
Articolo
Genome sequencing elucidates Sardinian genetic architecture and augments association analyses for lipid and blood inflammatory markers
Articolo
Genome-wide analysis identifies 12 loci influencing human reproductive behavior
Articolo
Genome-wide analysis identifies 12 loci influencing human reproductive behavior.
Articolo
Genome-wide analysis of mammalian promoter architecture and evolution.
Articolo
Genome-wide association analyses based on whole-genome sequencing in Sardinia provide insights into regulation of hemoglobin levels
Articolo
Genome-wide association analyses identify 18 new loci associated with serum urate concentrations
Articolo
Genome-wide association analyses of risk tolerance and risky behaviors in over 1 million individuals identify hundreds of loci and shared genetic influences
Articolo
Genome-wide association analysis identifies novel blood pressure loci and offers biological insights into cardiovascular risk
Articolo
Genome-wide association identifies three new susceptibility loci for Paget's disease of bone
Articolo
Genome-wide association meta-analysis highlights light-induced signaling as a driver for refractive error
Articolo
Genome-wide association study identifies eight loci associated with blood pressure
Articolo
Genome-wide association study identifies loci influencing concentrations of liver enzymes in plasma
Articolo
Genome-wide association study identifies loci influencing concentrations of liver enzymes in plasma.
Articolo
Genome-wide association study identifies six new loci influencing pulse pressure and mean arterial pressure.
Articolo
Genome-wide meta-analyses of multiancestry cohorts identify multiple new susceptibility loci for refractive error and myopia
Articolo
Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture.
Articolo
Genomewide association study of PR interval
Articolo
Genomic analyses identify hundreds of variants associated with age at menarche and support a role for puberty timing in cancer risk
Articolo
Genomic history of the Sardinian population
Articolo
Identfication of ten loci associated with height highlights new biological pathway in human growth
Articolo
Identification of a novel X-linked gene responsible for Emery-Dreifuss muscular dystrophy.
Articolo
Identification of heart rate-associated loci and their effects on cardiac conduction and rhythm disorders.
Articolo
Identification of ten loci associated with height highlights new biological pathways in human growth
Articolo
Identification of ten loci associated with height highlights new biological pathways in human growth
Articolo
Individual variations in cardiovascular-disease-related protein levels are driven by genetics and gut microbiome
Articolo
Large-scale association analyses identify host factors influencing human gut microbiome composition
Articolo
Large-scale association analyses identify new loci influencing glycemic traits and provide insight into the underlying biological pathways
Articolo
Large-scale association analyses identify new loci influencing glycemic traits and provide insight into the underlying biological pathways.
Articolo
Large-scale genomic analyses link reproductive aging to hypothalamic signaling, breast cancer susceptibility and BRCA1-mediated DNA repair.
Articolo
Large-scale genomic analyses link reproductive aging to hypothalamic signaling, breast cancer susceptibility and BRCA1-mediated DNA repair.
Articolo
Loss-of-function mutations in MICU1 cause a brain and muscle disorder linked to primary alterations in mitochondrial calcium signaling
Articolo
MLL4-associated condensates counterbalance Polycomb-mediated nuclear mechanical stress in Kabuki syndrome
Articolo
Mapping, cloning and genetic characterization of the region containing the Wilson disease gene
Articolo
Meta-analyses identify 13 loci associated with age at menopause and highlight DNA repair and immune pathways
Articolo
Meta-analyses identify 13 loci associated with age at menopause and highlight DNA repair and immune pathways.
Articolo
Meta-analysis and imputation refines the association of 15q25 with smoking quantity
Articolo
Meta-analysis and imputation refines the association of 15q25 with smoking quantity.
Articolo
Meta-analysis identifies 13 new loci associated with waist-hip ratio and reveals sexual dimorphism in the genetic basis of fat distribution
Articolo
Meta-analysis identifies 13 new loci associated with waist-hip ratio and reveals sexual dimorphism in the genetic basis of fat distribution
Articolo
Meta-analysis identifies 13 new loci associated with waist-hip ratio and reveals sexual dimorphism in the genetic basis of fat distribution
Articolo
Meta-analysis identifies 13 new loci associated with waist-hip ratio and reveals sexual dimorphism in the genetic basis of fat distribution.
Articolo
Meta-analysis identifies multiple loci associated with kidney function-related traits in east Asian populations.
Articolo
Meta-analysis of genome-wide association studies for personality.
Articolo
Meta-analysis of genome-wide association studies from the CHARGE consortium identifies common variants associated with carotid intima media thickness and plaque.
Articolo
Microdeletions in the human H19 DMR result in loss of IGF2 imprinting and Beckwith-Wiedemann syndrome
Articolo
Mitochondrial dysfunction and apoptosis in myopathic mice with collagen VI deficiency.
Articolo
Mutation of SHOC2 promotes aberrant protein N-myristoylation and causes Noonan-like syndrome with loose anagen hair
Articolo
Mutational hot spot within a new RPGR exon in X-linked retinitis pigmentosa.
Articolo
Mutations affecting the secretory COPII coat component SEC23B cause congenital dyserythropoietic anemia type II
Articolo
Mutations in UVSSA cause UV-sensitive syndrome and impair RNA polymerase IIo processing in transcription-coupled nucleotide-excision repair.
Articolo
Mutations in a Sar1 GTPase of COPII vesicles are associated with lipid absorption disorders.
Articolo
Mutations in the mitochondrial GTPase mitofusin 2 cause Charcot-Marie-Tooth neuropathy type 2A
Articolo
Mutations in the mitochondrial protease gene AFG3L2 cause dominant hereditary ataxia SCA28
Articolo
New genetic loci implicated in fasting glucose homeostasis and their impact on type 2 diabetes risk
Articolo
Newly identified loci that influence lipid concentrations and risk of coronary artery disease
Articolo
Next-generation genotype imputation service and methods
Articolo
Osteoclast-poor human osteopetrosis due to mutations in the gene encoding RANKL.
Articolo
Polygenic prediction of educational attainment within and between families from genome-wide association analyses in 3 million individuals
Articolo
Population- and individual-specific regulatory variation in Sardinia.
Articolo
Rare and functional SIAE variants are not associated with autoimmune disease risk in up to 66,924 individuals of European ancestry
Articolo
Six new loci associated with body mass index highlight a neuronal influence on body weight regulation
Articolo
Six new loci associated with body mass index highlight a neuronal influence on body weight regulation
Articolo
Systematic documentation and analysis of human genetic variation in hemoglobinopathies using the microattribution approach
Articolo
TRAIP promotes DNA damage response during genome replication and is mutated in primordial dwarfism
Articolo
Target genes, variants, tissues and transcriptional pathways influencing human serum urate levels
Articolo
The European dimension for the mouse genome mutagenesis program.
Articolo
The Wilson disease gene is a copper transporting ATPase with homology to the Menkes disease gene
Articolo
The copy number variation landscape of congenital anomalies of the kidney and urinary tract
Articolo
The genetics of blood pressure regulation and its target organs from association studies in 342,415 individuals
Articolo
The genome of the domesticated apple (Malus × domestica Borkh.).
Articolo
The high-quality draft genome of peach (Prunus persica) identifies unique patterns of genetic diversity, domestication and genome evolution
Articolo
The nicotinic receptor beta 2 subunit is mutant in nocturnal frontal lobe epilepsy.
Articolo
The putative forkhead transcription factor FOXL2 is mutated in blepharophimosis/ptosis/epicanthus inversus syndrome
Articolo
The putative forkhead transcription factor FOXL2 is mutated in blepharophimosis/ptosis/epicanthus inversus syndrome.
Articolo
Thirty new loci for age at menarche identified by a meta-analysis of genome-wide association studies.
Articolo
Trans-ancestry genome-wide association study identifies 12 genetic loci influencing blood pressure and implicates a role for DNA methylation.
Articolo
Trans-ancestry genome-wide association study identifies 12 genetic loci influencing blood pressure and implicates a role for DNA methylation.
Articolo
Trans-ethnic association study of blood pressure determinants in over 750,000 individuals
Articolo
Trinucleotide repeat length instability and age of onset in Huntington's disease
Articolo
Unprotected Drosophila melanogaster telomeres activate the spindle assembly checkpoint.
Articolo
Variants in MNTR1B influence fasting glucose levels
Articolo
Variants in MTNR1B influence fasting glucose levels
Articolo
Variants within the immunoregulatory CBLB gene are associated with multiple sclerosis
Articolo
Wilms tumor and constitutional epigenetic defects
Articolo
X-linked Cornelia de Lange syndrome owing to SMC1L1 mutations
Articolo
X-linked thrombocytopenia and Wiskott-Aldrich syndrome are allelic diseases with mutations in the WASP gene
Articolo
p38 pathway targets SWI-SNF chromatin-remodeling complex to muscle-specific loci
Articolo
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