http://www.cnr.it/ontology/cnr/individuo/modulo/ID5699
Plasticità genomica: dal genoma ai sistemi biologici (SV.P13.003.001)
- Type
- Label
- Plasticità genomica: dal genoma ai sistemi biologici (SV.P13.003.001) (literal)
- Prodotto
- A case of Beckwith-Wiedemann syndrome caused by a cryptic 11p15 deletion encompassing the centromeric imprinted domain of the BWS locus. (Articolo in rivista) (Prodotto della ricerca)
- New evidence for the correlation of the p.G130V mutation in the GJB2 gene and syndromic hearing loss with palmoplantar keratoderma (Articolo in rivista) (Prodotto della ricerca)
- Looking for CDKN1C enhancers (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- tRNA creation by hairpin duplication (Articolo in rivista) (Prodotto della ricerca)
- The split genes of Nanoarchaeum equitans are an ancestral character (Articolo in rivista) (Prodotto della ricerca)
- Silver-Russell syndrome following in vitro fertilization (Articolo in rivista) (Prodotto della ricerca)
- Giant breast tumors in a patient with Beckwith-Wiedemann syndrome (Articolo in rivista) (Prodotto della ricerca)
- Permuted tRNA genes of Cyanidioschyzon merolae, the origin of the tRNA molecule and the root of the Eukarya domain (Articolo in rivista) (Prodotto della ricerca)
- The origin of genes could be polyphyletic (Articolo in rivista) (Prodotto della ricerca)
- The Control Region of Mitochondrial DNA Shows an Unusual CpG and Non-CpG Methylation Pattern. (Articolo in rivista) (Prodotto della ricerca)
- The N-terminal 1-16 peptide derived in vivo from protein seminal vesicle protein IV modulates alpha-thrombin activity: potential clinical implications (Articolo in rivista) (Prodotto della ricerca)
- Detrimental effects of Bartonella henselae are counteracted by L-arginine and nitric oxide in human endothelial progenitor cells (Articolo in rivista) (Prodotto della ricerca)
- Assembly of the auditory circuitry by a hox genetic network in the mouse brainstem. (Articolo in rivista) (Prodotto della ricerca)
- Seminal vesicle protein IV and its derived active peptides: a possible physiological role in seminal clotting (Articolo in rivista) (Prodotto della ricerca)
- Filamin A is mutated in X-linked chronic idiopathic intestinal pseudo-obstruction with central nervous system involvement (Articolo in rivista) (Prodotto della ricerca)
- Functional characterization of a novel Cx26 (T55N) mutation associated to non-syndromic hearing loss (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- DNA methylation 40 years later: its role in human health and disease (Articolo in rivista) (Prodotto della ricerca)
- Massive-scale RNA-seq analysis of non ribosomal transcriptome in human Trisomy 21. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Nanoarchaeum equitans is a living fossil (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- RNA-Seq and human complex diseases: recent accomplishments and future perspectives. (Articolo in rivista) (Prodotto della ricerca)
- A rhombomere 4-derived auditory circuitry is dependent on Hoxb1 function (Abstract/Comunicazione in atti di convegno) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1305)
- The X-linked methyl binding protein gene Kaiso is highly expressed in brain but is not mutated in Rett syndrome patients. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- The universal ancestor and the ancestors of Archaea and Bacteria were anaerobes whereas the ancestor of the Eukarya domain was an aerobe. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- The first lines of divergence in the Bacteria domain were the hyperthermophilic organisms, the Thermotogales and the Aquificales, and not the mesophilic Planctomycetales (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Understanding gene regulatory mechanisms by integrating ChIP-seq and RNA-seq data: statistical solutions to biological problems. (Articolo in rivista) (Prodotto della ricerca)
- A novel three-unit tRNA splicing endonuclease found in ultrasmall Archaea possesses broad substrate specificity. (Articolo in rivista) (Prodotto della ricerca)
- Ruolo della Melatonina nelle Patologie Metaboliche osee (Articolo in rivista) (Prodotto della ricerca)
- Variegated silencing through epigenetic modifications of a large Xq region in a case of balanced X;2 translocation with Incontinentia Pigmenti-like phenotype. (Articolo in rivista) (Prodotto della ricerca)
- A novel microdeletion in the IGF2/H19 imprinting centre region defines a recurrent mutation mechanism in familial Beckwith-Wiedemann syndrome. (Articolo in rivista) (Prodotto della ricerca)
- The melatonin receptor 1a (MTNR1A) gene is associated with recurrent and idiopathic calcium nephrolithiasis (Articolo in rivista) (Prodotto della ricerca)
- A non-synonymous TNFRSF11A variation increases NFkB activity and the severity of Paget's disease. (Articolo in rivista) (Prodotto della ricerca)
- Digenic mutational inheritance of the integrin alpha 7 and the myosin heavy chain 7B genes causes congenital myopathy with left ventricular non-compact cardiomyopathy. (Articolo in rivista) (Prodotto della ricerca)
- Effect of positive charge in VIP (16)gamma-glutamyl diamino derivatives on hVPAC1 and hVPAC2 receptor function (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Nutritional genomics era: opportunities toward a genome-tailored nutritional regimen. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- SQSTM1 gene analysis and gene-environment interaction in Paget's disease of bone (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Comparison of intravenous and intramuscular neridronate regimens for the treatment of paget's disease of bone. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Biodegradation of bisphenols with immobilized laccase or tyrosinase on polyacrylonitrile beads (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Molecular and clinical characterization of albinism in a large cohort of Italian patients (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Biological evidence against the panspermia theory. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- The Last Universal Common Ancestor (LUCA) and the Ancestors of Archaea and Bacteria were Progenotes (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Epigenetic alteration of microRNAs in DNMT3B-mutated patients of ICF syndrome (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Increased levels of 4HNE-protein plasma adducts in Rett syndrome (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Molecular Genetics of Paget's Disease of Bone (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Paget disease of bone-associated UBA domain mutations of SQSTM1 exert distinct effects on protein structure and function (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Connexin 26 variant carriers have a better gastrointestinal health: is this the heterozygote advantage? (Articolo in rivista) (Prodotto della ricerca)
- A functional allelic variant of the FGF23 gene is associated with renal phospate leak in calcium nephrolithiasis. (Articolo in rivista) (Prodotto della ricerca)
- LONG TERM EFFECTS OF INTRAVENOUS BISPHOSPHONATES IN PAGET'S DISEASE OF BONE AND INTERACTION WITH SQSTM1 MUTATIONS (Abstract/Comunicazione in atti di convegno) (Prodotto della ricerca)
- GJB2 Gene Mutations in Syndromic Skin Diseases with Sensorineural Hearing Loss (Articolo in rivista) (Prodotto della ricerca)
- Genetics Aspects in Non-Syndromic Forms of Sensorineural Hearing Loss (Contributo in volume (capitolo o saggio)) (Prodotto della ricerca)
- Functional Characterization of the RNA Chaperone Hfq in the Opportunistic Human Pathogen Stenotrophomonas maltophilia (Articolo in rivista) (Prodotto della ricerca)
- The close relationship between the biosynthetic families of amino acids and the organisation of the genetic code (Articolo in rivista) (Prodotto della ricerca)
- The origin of the genetic code: matter of metabolism or physicochemical determinism? (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Imerslund-Gräsbeck syndrome in a 25-month-old Italian girl caused by a homozygous mutation in AMN. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Patologia Testa-Collo Organi di Senso (Contributo in volume (capitolo o saggio)) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1201)
- Giant cell tumor occurring in familial Paget's disease of bone: report of clinical characteristics and linkage analysis of a large pedigree. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Association of a GRIA3 Gene Polymorphism With Migraine in an Australian Case-Control Cohort. (Articolo in rivista) (Prodotto della ricerca)
- Alternative splicing of the human gene SYBL1 modulates protein domain architecture of longin VAMP7/TI-VAMP, showing both non-SNARE and synaptobrevin-like isoforms. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- TYPE-2 VASOPRESSIN RECEPTOR GENE, THE GENE RESPONSIBLE FOR NEPHROGENIC DIABETES-INSIPIDUS, MAPS TO XQ28 CLOSE TO THE L1CAM GENE (Articolo in rivista) (Prodotto della ricerca)
- Progenote (Voce (in dizionario o enciclopedia)) (Prodotto della ricerca)
- Gene Expression Profile in Liver Transplantation and the Influence of Gene Dysregulation Occurring in Deceased Donor Grafts (Articolo in rivista) (Prodotto della ricerca)
- Mutational analysis for GJB2, GJB6, and GJB3 genes in Campania within a universal neonatal hearing screening programme (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Molecular analysis of the mature T cell proliferation-1 (MTCP-1) gene in Xq28-linked incontinentia pigmenti (Articolo in rivista) (Prodotto della ricerca)
- PPARG in Human Adipogenesis: Differential Contribution of Canonical Transcripts and Dominant Negative Isoforms (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- RNA-Seq for the identification of novel Mediator transcripts in endothelial progenitor cells (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Recenti acquisizioni sulla eziopatogenesi della malattia ossea di Paget (Articolo in rivista) (Prodotto della ricerca)
- The PEG13-DMR and brain-specific enhancers dictate imprinted expression within the 8q24 intellectual disability risk locus (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Exclusion of TNFRSF11B as Candidate Gene for Otosclerosis in Campania Population. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Transfer RNA genes in pieces are an ancestral character (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Hypomethylation at multiple maternally methylated imprinted regions including PLAGL1 and GNAS loci in Beckwith-Wiedemann syndrome (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Structuring of the genetic code took place at acidic pH (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- The origin of the genetic code: theories and their relationships, a review (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Audiometric evaluation of carriers of the connexin 26 mutation 35del G (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Investigation of Gamma-aminobutyric acid (GABA) A receptors genes and migraine susceptibility (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- New evidence for the correlation of the p.G130V mutation in the GJB2 gene and syndromic hearing loss with palmoplantar keratoderma (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Different mechanisms cause imprinting defects at the IGF2/H19 locus in Beckwith-Wiedemann syndrome and Wilms' tumour (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- An extension of the coevolution theory of the origin of the genetic code (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Different spectra of genomic deletions within the CCM genes between Italian and American CCM patient cohorts (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- In vitro stimulatory effect of anti-apoptotic seminal vesicle protein 4 on purified peroxidase enzymes (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Wilms tumor and constitutional epigenetic defects (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Characterization of a novel polymorphism in PPARG regulatory region associated with type 2 diabetes and diabetic retinopathy in Italy (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Large Collaborative Study on Geographic Variation of SQSTM1 Mutations in Paget's Disease of Bone in Italy (Abstract/Comunicazione in atti di convegno) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1305)
- ANALYSIS OF POLYMORPHISMS OF THE NUCLEAR RECEPTOR PPARG GENE IN OBESE INDIVIDUALS FROM SOUTHERN ITALY (Abstract/Comunicazione in atti di convegno) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1305)
- F(2)-dihomo-isoprostanes as potential early biomarkers of lipid oxidative damage in Rett syndrome (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- A novel germline mutation in Peroxisome Proliferator-Activated Receptor gamma gene associated with large intestine polyp formation and dyslipidemia (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- The non-monophyletic origin of the tRNA molecule and the origin of genes only after the evolutionary stage of the last universal common ancestor (LUCA) (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Identification and characterization of markers for NIPD of X linked aneuploidies (Contributo in atti di convegno) (Prodotto della ricerca)
- Identification of a novel mutation in the myosin VIIA motor domain in a family with autosomal dominant hearing loss (DFNA11) (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Glutamate Receptor Subunit 3 and Migraine Susceptibility (Contributo in atti di convegno) (Prodotto della ricerca)
- Maintenance of X- and Y-inactivation of the pseudoautosomal (PAR2) gene SPRY3 is independent from DNA methylation and associated to multiple layers of epigenetic modifications (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- FSHR GENE POLYMORPHISMS INFLUENCE BMD AND BONE TURNOVER IN POSTMENOPAUSAL WOMEN BUT NOT ELDERLY MEN (Contributo in atti di convegno) (Prodotto della ricerca)
- Identification and characterization of markers for NIPD of X linked aneuploidies (Contributo in atti di convegno) (Prodotto della ricerca)
- Genetic Evaluation in the congenital hearing loss: the Campania newborn hearing screening programme experience (Contributo in atti di convegno) (Prodotto della ricerca)
- Molecular analysis of 349 sensorineural hearing impaired subjects in Campania region (Contributo in atti di convegno) (Prodotto della ricerca)
- Large Collaborative Study on Geographic Variation of SQSTM1 Mutations in Paget's Disease of Bone in Italy (Contributo in atti di convegno) (Prodotto della ricerca)
- The Melatonin Receptor 1A Gene (MTNR1A) Is Associated With Kidney Stones (Contributo in atti di convegno) (Prodotto della ricerca)
- Gain of function in CDKN1C (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Investigation of GRIA3 Receptor Gene and Migraine Susceptibility (Contributo in atti di convegno) (Prodotto della ricerca)
- The evolution of the genetic code took place in an anaerobic environment. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Paget's disease of bone in the Italian population: novel SQSTM1/p62 mutations and genotype-phenotype correlations (Contributo in atti di convegno) (Prodotto della ricerca)
- The tree of life might be rooted in the branch leading to Nanoarchaeota (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Paternal deletion of the 11p15.5 centromeric-imprinting control region is associated with alteration of imprinted gene expression and recurrent severe intrauterine growth restriction. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- The molecular function and clinical phenotype of partial deletions of the IGF2/H19 imprinting control region depends on the spatial arrangement of the remaining CTCF-binding sites (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Forme ereditarie di ipoacusie neurosensoriali isolate e sindromiche nel bambino (Articolo in rivista) (Prodotto della ricerca)
- Partial rescue of Rett syndrome by omega-3 polyunsaturated fatty acids (PUFAs) oil (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Non-coding RNAs in chromatin disease involving neurological defects (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- A polyphyletic model for the origin of tRNAs has more support than a monophyletic model. (Articolo in rivista) (Prodotto della ricerca)
- Paget's disease of bone: epidemiology, pathogenesis and pharmacotherapy (Articolo in rivista) (Prodotto della ricerca)
- Absence of TI-VAMP/Vamp7 Leads to Increased Anxiety in Mice. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- A nonsynonymous TNFRSF11A variation increases NFkB activity and the severity of Paget's disease (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- The origin of the tRNA molecule: Independent data favor a specific model of its evolution. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- piR_015520 Belongs to Piwi-Associated RNAs Regulates Expression of the Human Melatonin Receptor 1A Gene (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- F2-Dihomo-isoprostanes as potential early biomarkers of lipid oxidative damage in Rett syndrome. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Diagnostic and therapeutic means for kidney stone related pathologies (Brevetto) (Brevetto)
- Newborn hearing screening in the Campania region (Italy): early language and perceptual outcomes of infants with permanent hearing loss. (Articolo in rivista) (Prodotto della ricerca)
- Inherited and Sporadic Epimutations at the IGF2-H19 locus in Beckwith-Wiedemann syndrome and Wilms' tumor. (Articolo in rivista) (Prodotto della ricerca)
- Genomic and proteomic approaches to renal cell carcinoma (Articolo in rivista) (Prodotto della ricerca)
- I cromosomi sessuali umani: origine ed evoluzione (Articolo in rivista) (Prodotto della ricerca)
- Experimental colitis: decreased Octn2 and Atb0+ expression in rat colonocytes induces carnitine depletion that is reversible by carnitine-loaded liposomes (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Pre-natal exposure of mice to bisphenol A elicits an endometriosis-like phenotype in female offspring (Articolo in rivista) (Prodotto della ricerca)
- Praf2 Is a Novel Bcl-xL/Bcl-2 Interacting Protein with the Ability to Modulate Survival of Cancer Cells (Articolo in rivista) (Prodotto della ricerca)
- PPARG: Gene Expression Regulation and Next-Generation Sequencing for Unsolved Issues (Articolo in rivista) (Prodotto della ricerca)
- R75Q dominant mutation in GJB2 gene silenced by the in Cis recessive mutation c.35delG (Articolo in rivista) (Prodotto della ricerca)
- O6-methylguanine-DNA methyltransferase in equine sarcoids: molecular and epigenetic analysis. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- A thionine-modified carbon paste amperometric biosensor for catechol and bisphenol A determination (Articolo in rivista) (Prodotto della ricerca)
- F(4)-neuroprostanes mediate neurological severity in Rett syndrome. (Articolo in rivista) (Prodotto della ricerca)
- The biflavonoid Amentoflavone inhibits neovascularization preventing the activity of pro-angiogenic vascular endothelial growth factors (Articolo in rivista) (Prodotto della ricerca)
- The Presence in tRNA Molecule Sequences of the Double Hairpin, an Evolutionary Stage Through Which the Origin of this Molecule is Thought to have Passed (Articolo in rivista) (Prodotto della ricerca)
- Is PPARG the key gene in Diabetic Retinopathy? (Articolo in rivista) (Prodotto della ricerca)
- DDX11L: a novel transcript family emerging from human subtelomeric regions (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Involvement of PGC-1, NRF-1, and NRF-2 in metabolic response by rat liver to hormonal and environmental signals (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- A novel peroxisome proliferator-activated receptor gamma isoform with dominant negative activity generated by alternative splicing (Articolo in rivista) (Prodotto della ricerca)
- Imprinting at the PLAGL1 domain is contained within a 70-kb CTCF/cohesin-mediated non-allelic chromatin loop. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Oxidative brain damage in Mecp2-mutant murine models of Rett syndrome (Articolo in rivista) (Prodotto della ricerca)
- Non-coding RNA and pseudogenes in neurodegenerative diseases: \"The (un)Usual Suspects\". (Articolo in rivista) (Prodotto della ricerca)
- Distinct disease phenotypes linked to different combinations of GAA mutations in a large late-onset GSDII sibship. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Very good performance with bimodal stimulation in a like-hybrid modality in a patient with profound bilateral sensorineural hearing loss with low-frequencies preservation (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Clinical characteristics and evolution of giant cell tumor occurring in paget's disease of bone. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Epigenetic control of hypoxia inducible factor-1?-dependent expression of placental growth factor in hypoxic conditions (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Unique X-linked familial FSGS with co-segregating heart block disorder is associated with a mutation in the NXF5 gene. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- High grade glioblastoma is associated with aberrant expression of ZFP57, a protein involved in gene imprinting, and of CPT1A and CPT1C that regulate fatty acid metabolism (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Split genes, ancestral genes (Contributo in volume (capitolo o saggio)) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1201)
- Bone Turnover and the Osteoprotegerin-RANKL Pathway in Tumor-Induced Osteomalacia: A Longitudinal Study of Five Cases (Articolo in rivista) (Prodotto della ricerca)
- Why the Genetic Code Originated. Implications for the origin of protein synthesis (Contributo in volume (capitolo o saggio)) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1201)
- ZPLD1 gene is disrupted in a patient with balanced translocation that exhibits cerebral cavernous malformations (Articolo in rivista) (Prodotto della ricerca)
- ATP1A2 gene mutations are not present in two sisters with basilar-type migraine associated with menses (Articolo in rivista) (Prodotto della ricerca)
- Distinct methylation changes at the IGF2-H19 locus in congenital growth disorders and cancer (Articolo in rivista) (Prodotto della ricerca)
- MS-MLPA is a specific and sensitive technique for detecting all chromosome 11p15.5 imprinting defects of BWS and SRS in a single-tube experiment (Articolo in rivista) (Prodotto della ricerca)
- Genetic and epigenetic alterations of RB2/P130 tumor suppressor gene in human sporadic retinoplastoma: implications for pathogenesis and therapeutic approach (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Models and speculations - Building up the inactive X chromosome (Articolo in rivista) (Prodotto della ricerca)
- Vitamin D Receptor Gene Polymorphisms Predict Acquired Resistance to Clodronate Treatment in Patients with Paget Disease of Bone (Articolo in rivista) (Prodotto della ricerca)
- An autoregulatory loop mediated by miR-21 and PDCD4 controls the AP-1 activity in RAS transformation (Articolo in rivista) (Prodotto della ricerca)
- The H19 locus acts in vivo as a tumor suppressor (Articolo in rivista) (Prodotto della ricerca)
- Lessons from two human chromatin diseases, ICF syndrome and Rett syndrome (Articolo in rivista) (Prodotto della ricerca)
- Clinical and molecular genetics of Leber's congenital amaurosis: a multicenter study of Italian patients (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Estensore per la voce bibliografica: Sonde Molecolari (Curatela) (Prodotto della ricerca)
- 17th IGB Meeting - The Biology and Development of the Eye in Health and Disease (Curatela) (Prodotto della ricerca)
- Indagini Audiologiche negli isolati genetici (Contributo in volume (capitolo o saggio)) (Prodotto della ricerca)
- Genetic and epigenetic mutations affect the DNA binding capability of human ZFP57 in transient neonatal diabetes type 1. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- The DNA sequence of the human X chromosome (Articolo in rivista) (Prodotto della ricerca)
- The basal phylogenetic position of Nanoarchaeum equitans (Nanoarchaeota) (Articolo in rivista) (Prodotto della ricerca)
- The ocean abysses witnessed the origin of the genetic code (Articolo in rivista) (Prodotto della ricerca)
- A comparison of proteins from Pyrococcus furiosus and Pyrococcus abyssi: barophily in the physicochemical properties of amino acids and in the genetic code (Articolo in rivista) (Prodotto della ricerca)
- Clinical phenotype of an Italian family with a new mutation in the PRPF8 gene. (Articolo in rivista) (Prodotto della ricerca)
- Current progress in non-invasive imaging of beta cell mass of the endocrine pancreas. (Articolo in rivista) (Prodotto della ricerca)
- The origin of the genetic code in the ocean abysses: new comparisons confirm old observations (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- De novo seven extra repeat expanded mutation in the PRNP gene in an Italian patient with early onset dementia. (Articolo in rivista) (Prodotto della ricerca)
- Wide gene expression profiling of ischemia-reperfusion injury in human liver transplantation (Articolo in rivista) (Prodotto della ricerca)
- Identification and expression analysis of novel Jakmip1 transcripts. (Articolo in rivista) (Prodotto della ricerca)
- Highly variable penetrance in subjects affected with cavernous cerebral angiomas (CCM) carrying novel CCM1 and CCM2 (Articolo in rivista) (Prodotto della ricerca)
- Anti-apoptotic seminal vesicle protein IV inhibits cell-mediated immunity. (Articolo in rivista) (Prodotto della ricerca)
- Common susceptibility alleles and SQSTM1 mutations predict disease extent and severity in a multinational study of patients with Paget's disease. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Prevalence of beckwith-wiedemann syndrome in North West of Italy. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Confirmation that Xq27 and Xq28 are susceptibility loci for migraine in independent pedigrees and a case-control cohort. (Articolo in rivista) (Prodotto della ricerca)
- A case of Beckwith-Wiedemann syndrome caused by a cryptic 11p15 deletion encompassing the centromeric imprinted domain of the BWS locus (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Silver-Russell syndrome and Beckwith-Wiedemann syndrome phenotypes associated with 11p duplication in a single family (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- A model of the origin of the 5S ribosomal RNA molecule. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Molecular and Clinical Characterization of Albinism in a Large Cohort of Italian Patients (Articolo in rivista) (Prodotto della ricerca)
- Genome-wide association identifies three new susceptibility loci for Paget's disease of bone (Articolo in rivista) (Prodotto della ricerca)
- Disruption of genomic neighbourhood at the imprinted IGF2-H19 locus in Beckwith-Wiedemann syndrome and Silver-Russell syndrome (Articolo in rivista) (Prodotto della ricerca)
- Branched peptides for the modulation of protein-protein interactions: more arms are better than one? (Articolo in rivista) (Prodotto della ricerca)
- The KCNQ1OT1 imprinting control region and non-coding RNA: new properties derived from the study of Beckwith-Wiedemann syndrome and Silver-Russell syndrome cases (Articolo in rivista) (Prodotto della ricerca)
- Chromatin-associated RNA interference components contribute to transcriptional regulation in Drosophila (Articolo in rivista) (Prodotto della ricerca)
- The rs39335 polymorphism of the RELN gene is not associated with otosclerosis in a southern Italian population. (Articolo in rivista) (Prodotto della ricerca)
- Nephrological findings and genotype-phenotype correlation in Beckwith-Wiedemann syndrome (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Research on the origin of life. Introduction (Articolo in rivista) (Prodotto della ricerca)
- Formal Proof that the Split Genes of tRNAs of Nanoarchaeum equitans Are an Ancestral Character. (Articolo in rivista) (Prodotto della ricerca)
- A methanogen hosted the origin of the genetic code. (Articolo in rivista) (Prodotto della ricerca)
- A comparison among the models proposed to explain the origin of the tRNA molecule: A synthesis. (Articolo in rivista) (Prodotto della ricerca)
- Ochratoxin A induces craniofacial malformation in mice acting on Dlx5 gene expression (Articolo in rivista) (Prodotto della ricerca)
- Differential DNA Methylation as a Tool for Non-Invasive Prenatal Diagnosis (NIPD) of X Chromosome Aneuploidies (Articolo in rivista) (Prodotto della ricerca)
- Epidemiological, clinical, and genetic characteristics of Paget's disease of bone in a rural area of Calabria, Southern Italy (Articolo in rivista) (Prodotto della ricerca)
- Screening for GJB2 and GJB6 gene mutations in patients from Campania region with sensorineural hearing loss (Articolo in rivista) (Prodotto della ricerca)
- FSHR gene polymorphisms influence bone mineral density and bone turnover in postmenopausal women (Articolo in rivista) (Prodotto della ricerca)
- Common variants in the regulative regions of GRIA1 and GRIA3 receptor genes are associated with migraine susceptibility (Articolo in rivista) (Prodotto della ricerca)
- The 'recently' split transfer RNA genes may be close to merging the two halves of the tRNA rather than having just separated them (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Analysis of SEMA6B gene expression in breast cancer: Identification of a new isoform. (Articolo in rivista) (Prodotto della ricerca)
- The Origin of the 5S Ribosomal RNA Molecule Could Have Been Caused by a Single Inverse Duplication: Strong Evidence from Its Sequences (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- YAC CONTIG ORGANIZATION AND CPG ISLAND ANALYSIS IN XQ28 (Articolo in rivista) (Prodotto della ricerca)
- YAC-ASSISTED CLONING OF TRANSCRIBED SEQUENCES FROM THE HUMAN CHROMOSOME-3P21 REGION (Articolo in rivista) (Prodotto della ricerca)
- Molecular and epigenetic analysis of the fragile histidine triad tumour suppressor gene in equine sarcoids (Articolo in rivista) (Prodotto della ricerca)
- Subclinical myocardial dysfunction in Rett syndrome (Articolo in rivista) (Prodotto della ricerca)
- Impairment of circulating endothelial progenitors in Down syndrome (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Clinical utility gene card for: Beckwith-Wiedemann syndrome. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- AnaLysis of Expression on human chromosome 21, ALE-HSA21: a pilot integrated web resource (Articolo in rivista) (Prodotto della ricerca)
- Feasibility and effectiveness of a population-based newborn hearing screening in an economically deprived region of Italy. (Articolo in rivista) (Prodotto della ricerca)
- TNFRSF11A GENE ALLELIC VARIANTS ARE ASSOCIATED WITH PAGET'S DISEASE OF BONE AND INTERACT WITH SQSTM1 MUTATIONS TO CAUSE THE SEVERITY OF THE DISORDER (Contributo in atti di convegno) (Prodotto della ricerca)
- LONG TERM EFFECTS OF INTRAVENOUS BISPHOSPHONATES IN PAGET'S DISEASE OF BONE AND INTERACTION WITH SQSTM1 MUTATIONS (Contributo in atti di convegno) (Prodotto della ricerca)
- A novel GBE1 mutation and features of polyglucosan bodies autophagy in Adult Polyglucosan Body Disease (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- MeCP2 as a genome-wide modulator: the renewal of an old story. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Oral administration of d-limonene controls inflammation in rat colitis and displays anti-inflammatory properties as diet supplementation in humans (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- In Embryonic Stem Cells, ZFP57/KAP1 Recognize a Methylated Hexanucleotide to Affect Chromatin and DNA Methylation of Imprinting Control Regions (Articolo in rivista) (Prodotto della ricerca)
- Mesenchymal Stromal Cells: from Bone Marrow to Neoplastic Disorders (Articolo in rivista) (Prodotto della ricerca)
- Non-coding RNA in Neurodegeneration (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Evidence of Bacteroides fragilis protection from Bartonella henselae-induced damage. (Articolo in rivista) (Prodotto della ricerca)
- Expression, purification and partial characterization of the Kruppel-associated box (KRAB) from the human ZNF2 protein (Articolo in rivista) (Prodotto della ricerca)
- Uncovering the complexity of transcriptomes with RNA-Seq (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Codice
- Anno di chiusura previsto
- 2015-01-01T00:00:00+01:00 (literal)
- Istituto esecutore
- Primo anno di attività
- 2006-01-01T00:00:00+01:00 (literal)
- Abstract
- Il completamento del Genoma Umano e di organismi modello ha portato alla morte il vecchio assioma della Genetica \"un gene, una proteina\". E' apparso subito evidente che il numero previsto di oltre 150.000 geni calcolato sulla base della complessità genomica si è rivelato essere compreso tra 30.000-35.000; è implicito il ruolo rivestito dal processo di splicing.
Inoltre, il sequenziamento dei genomi ha fornito l'opportunità per predire la funzione di elementi regolatori conservati attivi in cis (conserved sequence tags; CST). Il confronto multiplo tra specie è un metodo efficiente per l'identificazione di elementi funzionali di regioni genomiche (footprinting filogenetico). L'analisi dei genomi ha anche messo in luce che la trasmissione del fenotipo non può essere descritta solo nei termini genetici classici di mutazioni e ricombinazioni, in quanto esistono anche meccanismi epigenomici indipendenti dalla sequenza del DNA. Lo studio di tutti questi meccanismi fornisce un nuovo strumento per l'analisi della relazione genotipo-fenotipo. (literal)
- Nome
- Plasticità genomica: dal genoma ai sistemi biologici (literal)
- Descrizione
- Modulo di
- Gestore
Incoming links:
- Prodotto di
- Identification and characterization of markers for NIPD of X linked aneuploidies (Contributo in atti di convegno) (Prodotto della ricerca)
- Large Collaborative Study on Geographic Variation of SQSTM1 Mutations in Paget's Disease of Bone in Italy (Contributo in atti di convegno) (Prodotto della ricerca)
- The Melatonin Receptor 1A Gene (MTNR1A) Is Associated With Kidney Stones (Contributo in atti di convegno) (Prodotto della ricerca)
- Investigation of GRIA3 Receptor Gene and Migraine Susceptibility (Contributo in atti di convegno) (Prodotto della ricerca)
- Paget's disease of bone in the Italian population: novel SQSTM1/p62 mutations and genotype-phenotype correlations (Contributo in atti di convegno) (Prodotto della ricerca)
- Molecular analysis of 349 sensorineural hearing impaired subjects in Campania region (Contributo in atti di convegno) (Prodotto della ricerca)
- Identification and characterization of markers for NIPD of X linked aneuploidies (Contributo in atti di convegno) (Prodotto della ricerca)
- Glutamate Receptor Subunit 3 and Migraine Susceptibility (Contributo in atti di convegno) (Prodotto della ricerca)
- Genetic Evaluation in the congenital hearing loss: the Campania newborn hearing screening programme experience (Contributo in atti di convegno) (Prodotto della ricerca)
- FSHR GENE POLYMORPHISMS INFLUENCE BMD AND BONE TURNOVER IN POSTMENOPAUSAL WOMEN BUT NOT ELDERLY MEN (Contributo in atti di convegno) (Prodotto della ricerca)
- Clinical phenotype of an Italian family with a new mutation in the PRPF8 gene. (Articolo in rivista) (Prodotto della ricerca)
- Current progress in non-invasive imaging of beta cell mass of the endocrine pancreas. (Articolo in rivista) (Prodotto della ricerca)
- De novo seven extra repeat expanded mutation in the PRNP gene in an Italian patient with early onset dementia. (Articolo in rivista) (Prodotto della ricerca)
- Wide gene expression profiling of ischemia-reperfusion injury in human liver transplantation (Articolo in rivista) (Prodotto della ricerca)
- Identification and expression analysis of novel Jakmip1 transcripts. (Articolo in rivista) (Prodotto della ricerca)
- Highly variable penetrance in subjects affected with cavernous cerebral angiomas (CCM) carrying novel CCM1 and CCM2 (Articolo in rivista) (Prodotto della ricerca)
- Clinical and molecular genetics of Leber's congenital amaurosis: a multicenter study of Italian patients (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- The ocean abysses witnessed the origin of the genetic code (Articolo in rivista) (Prodotto della ricerca)
- A comparison of proteins from Pyrococcus furiosus and Pyrococcus abyssi: barophily in the physicochemical properties of amino acids and in the genetic code (Articolo in rivista) (Prodotto della ricerca)
- The DNA sequence of the human X chromosome (Articolo in rivista) (Prodotto della ricerca)
- The basal phylogenetic position of Nanoarchaeum equitans (Nanoarchaeota) (Articolo in rivista) (Prodotto della ricerca)
- ATP1A2 gene mutations are not present in two sisters with basilar-type migraine associated with menses (Articolo in rivista) (Prodotto della ricerca)
- ZPLD1 gene is disrupted in a patient with balanced translocation that exhibits cerebral cavernous malformations (Articolo in rivista) (Prodotto della ricerca)
- Models and speculations - Building up the inactive X chromosome (Articolo in rivista) (Prodotto della ricerca)
- Vitamin D Receptor Gene Polymorphisms Predict Acquired Resistance to Clodronate Treatment in Patients with Paget Disease of Bone (Articolo in rivista) (Prodotto della ricerca)
- Distinct methylation changes at the IGF2-H19 locus in congenital growth disorders and cancer (Articolo in rivista) (Prodotto della ricerca)
- MS-MLPA is a specific and sensitive technique for detecting all chromosome 11p15.5 imprinting defects of BWS and SRS in a single-tube experiment (Articolo in rivista) (Prodotto della ricerca)
- The H19 locus acts in vivo as a tumor suppressor (Articolo in rivista) (Prodotto della ricerca)
- Lessons from two human chromatin diseases, ICF syndrome and Rett syndrome (Articolo in rivista) (Prodotto della ricerca)
- An autoregulatory loop mediated by miR-21 and PDCD4 controls the AP-1 activity in RAS transformation (Articolo in rivista) (Prodotto della ricerca)
- Bone Turnover and the Osteoprotegerin-RANKL Pathway in Tumor-Induced Osteomalacia: A Longitudinal Study of Five Cases (Articolo in rivista) (Prodotto della ricerca)
- Research on the origin of life. Introduction (Articolo in rivista) (Prodotto della ricerca)
- Formal Proof that the Split Genes of tRNAs of Nanoarchaeum equitans Are an Ancestral Character. (Articolo in rivista) (Prodotto della ricerca)
- A methanogen hosted the origin of the genetic code. (Articolo in rivista) (Prodotto della ricerca)
- A comparison among the models proposed to explain the origin of the tRNA molecule: A synthesis. (Articolo in rivista) (Prodotto della ricerca)
- Ochratoxin A induces craniofacial malformation in mice acting on Dlx5 gene expression (Articolo in rivista) (Prodotto della ricerca)
- Screening for GJB2 and GJB6 gene mutations in patients from Campania region with sensorineural hearing loss (Articolo in rivista) (Prodotto della ricerca)
- FSHR gene polymorphisms influence bone mineral density and bone turnover in postmenopausal women (Articolo in rivista) (Prodotto della ricerca)
- Common variants in the regulative regions of GRIA1 and GRIA3 receptor genes are associated with migraine susceptibility (Articolo in rivista) (Prodotto della ricerca)
- Differential DNA Methylation as a Tool for Non-Invasive Prenatal Diagnosis (NIPD) of X Chromosome Aneuploidies (Articolo in rivista) (Prodotto della ricerca)
- Epidemiological, clinical, and genetic characteristics of Paget's disease of bone in a rural area of Calabria, Southern Italy (Articolo in rivista) (Prodotto della ricerca)
- Silver-Russell syndrome and Beckwith-Wiedemann syndrome phenotypes associated with 11p duplication in a single family (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- A model of the origin of the 5S ribosomal RNA molecule. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- A case of Beckwith-Wiedemann syndrome caused by a cryptic 11p15 deletion encompassing the centromeric imprinted domain of the BWS locus (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Molecular and Clinical Characterization of Albinism in a Large Cohort of Italian Patients (Articolo in rivista) (Prodotto della ricerca)
- Disruption of genomic neighbourhood at the imprinted IGF2-H19 locus in Beckwith-Wiedemann syndrome and Silver-Russell syndrome (Articolo in rivista) (Prodotto della ricerca)
- Branched peptides for the modulation of protein-protein interactions: more arms are better than one? (Articolo in rivista) (Prodotto della ricerca)
- Genome-wide association identifies three new susceptibility loci for Paget's disease of bone (Articolo in rivista) (Prodotto della ricerca)
- Chromatin-associated RNA interference components contribute to transcriptional regulation in Drosophila (Articolo in rivista) (Prodotto della ricerca)
- The KCNQ1OT1 imprinting control region and non-coding RNA: new properties derived from the study of Beckwith-Wiedemann syndrome and Silver-Russell syndrome cases (Articolo in rivista) (Prodotto della ricerca)
- Confirmation that Xq27 and Xq28 are susceptibility loci for migraine in independent pedigrees and a case-control cohort. (Articolo in rivista) (Prodotto della ricerca)
- Maintenance of X- and Y-inactivation of the pseudoautosomal (PAR2) gene SPRY3 is independent from DNA methylation and associated to multiple layers of epigenetic modifications (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- The non-monophyletic origin of the tRNA molecule and the origin of genes only after the evolutionary stage of the last universal common ancestor (LUCA) (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Identification of a novel mutation in the myosin VIIA motor domain in a family with autosomal dominant hearing loss (DFNA11) (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- The evolution of the genetic code took place in an anaerobic environment. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- The tree of life might be rooted in the branch leading to Nanoarchaeota (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Structuring of the genetic code took place at acidic pH (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- The origin of the genetic code: theories and their relationships, a review (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Audiometric evaluation of carriers of the connexin 26 mutation 35del G (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Transfer RNA genes in pieces are an ancestral character (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Hypomethylation at multiple maternally methylated imprinted regions including PLAGL1 and GNAS loci in Beckwith-Wiedemann syndrome (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Different mechanisms cause imprinting defects at the IGF2/H19 locus in Beckwith-Wiedemann syndrome and Wilms' tumour (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- An extension of the coevolution theory of the origin of the genetic code (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Investigation of Gamma-aminobutyric acid (GABA) A receptors genes and migraine susceptibility (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- New evidence for the correlation of the p.G130V mutation in the GJB2 gene and syndromic hearing loss with palmoplantar keratoderma (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Different spectra of genomic deletions within the CCM genes between Italian and American CCM patient cohorts (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- In vitro stimulatory effect of anti-apoptotic seminal vesicle protein 4 on purified peroxidase enzymes (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Wilms tumor and constitutional epigenetic defects (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Characterization of a novel polymorphism in PPARG regulatory region associated with type 2 diabetes and diabetic retinopathy in Italy (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- DDX11L: a novel transcript family emerging from human subtelomeric regions (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Involvement of PGC-1, NRF-1, and NRF-2 in metabolic response by rat liver to hormonal and environmental signals (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Genomic and proteomic approaches to renal cell carcinoma (Articolo in rivista) (Prodotto della ricerca)
- R75Q dominant mutation in GJB2 gene silenced by the in Cis recessive mutation c.35delG (Articolo in rivista) (Prodotto della ricerca)
- A thionine-modified carbon paste amperometric biosensor for catechol and bisphenol A determination (Articolo in rivista) (Prodotto della ricerca)
- Pre-natal exposure of mice to bisphenol A elicits an endometriosis-like phenotype in female offspring (Articolo in rivista) (Prodotto della ricerca)
- Praf2 Is a Novel Bcl-xL/Bcl-2 Interacting Protein with the Ability to Modulate Survival of Cancer Cells (Articolo in rivista) (Prodotto della ricerca)
- PPARG: Gene Expression Regulation and Next-Generation Sequencing for Unsolved Issues (Articolo in rivista) (Prodotto della ricerca)
- Is PPARG the key gene in Diabetic Retinopathy? (Articolo in rivista) (Prodotto della ricerca)
- F(4)-neuroprostanes mediate neurological severity in Rett syndrome. (Articolo in rivista) (Prodotto della ricerca)
- The biflavonoid Amentoflavone inhibits neovascularization preventing the activity of pro-angiogenic vascular endothelial growth factors (Articolo in rivista) (Prodotto della ricerca)
- The Presence in tRNA Molecule Sequences of the Double Hairpin, an Evolutionary Stage Through Which the Origin of this Molecule is Thought to have Passed (Articolo in rivista) (Prodotto della ricerca)
- piR_015520 Belongs to Piwi-Associated RNAs Regulates Expression of the Human Melatonin Receptor 1A Gene (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- F2-Dihomo-isoprostanes as potential early biomarkers of lipid oxidative damage in Rett syndrome. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Absence of TI-VAMP/Vamp7 Leads to Increased Anxiety in Mice. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- A nonsynonymous TNFRSF11A variation increases NFkB activity and the severity of Paget's disease (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- The origin of the tRNA molecule: Independent data favor a specific model of its evolution. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- The X-linked methyl binding protein gene Kaiso is highly expressed in brain but is not mutated in Rett syndrome patients. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Nanoarchaeum equitans is a living fossil (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- The first lines of divergence in the Bacteria domain were the hyperthermophilic organisms, the Thermotogales and the Aquificales, and not the mesophilic Planctomycetales (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- The universal ancestor and the ancestors of Archaea and Bacteria were anaerobes whereas the ancestor of the Eukarya domain was an aerobe. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Filamin A is mutated in X-linked chronic idiopathic intestinal pseudo-obstruction with central nervous system involvement (Articolo in rivista) (Prodotto della ricerca)
- Seminal vesicle protein IV and its derived active peptides: a possible physiological role in seminal clotting (Articolo in rivista) (Prodotto della ricerca)
- Functional characterization of a novel Cx26 (T55N) mutation associated to non-syndromic hearing loss (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- DNA methylation 40 years later: its role in human health and disease (Articolo in rivista) (Prodotto della ricerca)
- tRNA creation by hairpin duplication (Articolo in rivista) (Prodotto della ricerca)
- Permuted tRNA genes of Cyanidioschyzon merolae, the origin of the tRNA molecule and the root of the Eukarya domain (Articolo in rivista) (Prodotto della ricerca)
- The origin of genes could be polyphyletic (Articolo in rivista) (Prodotto della ricerca)
- The split genes of Nanoarchaeum equitans are an ancestral character (Articolo in rivista) (Prodotto della ricerca)
- Silver-Russell syndrome following in vitro fertilization (Articolo in rivista) (Prodotto della ricerca)
- The N-terminal 1-16 peptide derived in vivo from protein seminal vesicle protein IV modulates alpha-thrombin activity: potential clinical implications (Articolo in rivista) (Prodotto della ricerca)
- Detrimental effects of Bartonella henselae are counteracted by L-arginine and nitric oxide in human endothelial progenitor cells (Articolo in rivista) (Prodotto della ricerca)
- New evidence for the correlation of the p.G130V mutation in the GJB2 gene and syndromic hearing loss with palmoplantar keratoderma (Articolo in rivista) (Prodotto della ricerca)
- A case of Beckwith-Wiedemann syndrome caused by a cryptic 11p15 deletion encompassing the centromeric imprinted domain of the BWS locus. (Articolo in rivista) (Prodotto della ricerca)
- Nutritional genomics era: opportunities toward a genome-tailored nutritional regimen. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- SQSTM1 gene analysis and gene-environment interaction in Paget's disease of bone (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Molecular and clinical characterization of albinism in a large cohort of Italian patients (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Biological evidence against the panspermia theory. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- The Last Universal Common Ancestor (LUCA) and the Ancestors of Archaea and Bacteria were Progenotes (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Comparison of intravenous and intramuscular neridronate regimens for the treatment of paget's disease of bone. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Biodegradation of bisphenols with immobilized laccase or tyrosinase on polyacrylonitrile beads (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Increased levels of 4HNE-protein plasma adducts in Rett syndrome (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- A novel microdeletion in the IGF2/H19 imprinting centre region defines a recurrent mutation mechanism in familial Beckwith-Wiedemann syndrome. (Articolo in rivista) (Prodotto della ricerca)
- The melatonin receptor 1a (MTNR1A) gene is associated with recurrent and idiopathic calcium nephrolithiasis (Articolo in rivista) (Prodotto della ricerca)
- A novel three-unit tRNA splicing endonuclease found in ultrasmall Archaea possesses broad substrate specificity. (Articolo in rivista) (Prodotto della ricerca)
- Variegated silencing through epigenetic modifications of a large Xq region in a case of balanced X;2 translocation with Incontinentia Pigmenti-like phenotype. (Articolo in rivista) (Prodotto della ricerca)
- Gene Expression Profile in Liver Transplantation and the Influence of Gene Dysregulation Occurring in Deceased Donor Grafts (Articolo in rivista) (Prodotto della ricerca)
- Recenti acquisizioni sulla eziopatogenesi della malattia ossea di Paget (Articolo in rivista) (Prodotto della ricerca)
- Forme ereditarie di ipoacusie neurosensoriali isolate e sindromiche nel bambino (Articolo in rivista) (Prodotto della ricerca)
- TNFRSF11A GENE ALLELIC VARIANTS ARE ASSOCIATED WITH PAGET'S DISEASE OF BONE AND INTERACT WITH SQSTM1 MUTATIONS TO CAUSE THE SEVERITY OF THE DISORDER (Contributo in atti di convegno) (Prodotto della ricerca)
- LONG TERM EFFECTS OF INTRAVENOUS BISPHOSPHONATES IN PAGET'S DISEASE OF BONE AND INTERACTION WITH SQSTM1 MUTATIONS (Contributo in atti di convegno) (Prodotto della ricerca)
- LONG TERM EFFECTS OF INTRAVENOUS BISPHOSPHONATES IN PAGET'S DISEASE OF BONE AND INTERACTION WITH SQSTM1 MUTATIONS (Abstract/Comunicazione in atti di convegno) (Prodotto della ricerca)
- Large Collaborative Study on Geographic Variation of SQSTM1 Mutations in Paget's Disease of Bone in Italy (Abstract/Comunicazione in atti di convegno) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1305)
- ANALYSIS OF POLYMORPHISMS OF THE NUCLEAR RECEPTOR PPARG GENE IN OBESE INDIVIDUALS FROM SOUTHERN ITALY (Abstract/Comunicazione in atti di convegno) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1305)
- Progenote (Voce (in dizionario o enciclopedia)) (Prodotto della ricerca)
- 17th IGB Meeting - The Biology and Development of the Eye in Health and Disease (Curatela) (Prodotto della ricerca)
- Indagini Audiologiche negli isolati genetici (Contributo in volume (capitolo o saggio)) (Prodotto della ricerca)
- Estensore per la voce bibliografica: Sonde Molecolari (Curatela) (Prodotto della ricerca)
- Split genes, ancestral genes (Contributo in volume (capitolo o saggio)) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1201)
- Why the Genetic Code Originated. Implications for the origin of protein synthesis (Contributo in volume (capitolo o saggio)) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1201)
- Diagnostic and therapeutic means for kidney stone related pathologies (Brevetto) (Brevetto)
- Impairment of circulating endothelial progenitors in Down syndrome (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Uncovering the complexity of transcriptomes with RNA-Seq (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Inherited and Sporadic Epimutations at the IGF2-H19 locus in Beckwith-Wiedemann syndrome and Wilms' tumor. (Articolo in rivista) (Prodotto della ricerca)
- I cromosomi sessuali umani: origine ed evoluzione (Articolo in rivista) (Prodotto della ricerca)
- A novel peroxisome proliferator-activated receptor gamma isoform with dominant negative activity generated by alternative splicing (Articolo in rivista) (Prodotto della ricerca)
- Effect of positive charge in VIP (16)gamma-glutamyl diamino derivatives on hVPAC1 and hVPAC2 receptor function (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Epigenetic alteration of microRNAs in DNMT3B-mutated patients of ICF syndrome (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Massive-scale RNA-seq analysis of non ribosomal transcriptome in human Trisomy 21. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Giant cell tumor occurring in familial Paget's disease of bone: report of clinical characteristics and linkage analysis of a large pedigree. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Partial rescue of Rett syndrome by omega-3 polyunsaturated fatty acids (PUFAs) oil (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Gain of function in CDKN1C (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- A polyphyletic model for the origin of tRNAs has more support than a monophyletic model. (Articolo in rivista) (Prodotto della ricerca)
- Paternal deletion of the 11p15.5 centromeric-imprinting control region is associated with alteration of imprinted gene expression and recurrent severe intrauterine growth restriction. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- The molecular function and clinical phenotype of partial deletions of the IGF2/H19 imprinting control region depends on the spatial arrangement of the remaining CTCF-binding sites (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Experimental colitis: decreased Octn2 and Atb0+ expression in rat colonocytes induces carnitine depletion that is reversible by carnitine-loaded liposomes (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Alternative splicing of the human gene SYBL1 modulates protein domain architecture of longin VAMP7/TI-VAMP, showing both non-SNARE and synaptobrevin-like isoforms. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Expression, purification and partial characterization of the Kruppel-associated box (KRAB) from the human ZNF2 protein (Articolo in rivista) (Prodotto della ricerca)
- A rhombomere 4-derived auditory circuitry is dependent on Hoxb1 function (Abstract/Comunicazione in atti di convegno) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1305)
- Genetic and epigenetic alterations of RB2/P130 tumor suppressor gene in human sporadic retinoplastoma: implications for pathogenesis and therapeutic approach (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Imprinting at the PLAGL1 domain is contained within a 70-kb CTCF/cohesin-mediated non-allelic chromatin loop. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Evidence of Bacteroides fragilis protection from Bartonella henselae-induced damage. (Articolo in rivista) (Prodotto della ricerca)
- Genetic and epigenetic mutations affect the DNA binding capability of human ZFP57 in transient neonatal diabetes type 1. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Anti-apoptotic seminal vesicle protein IV inhibits cell-mediated immunity. (Articolo in rivista) (Prodotto della ricerca)
- The close relationship between the biosynthetic families of amino acids and the organisation of the genetic code (Articolo in rivista) (Prodotto della ricerca)
- A novel germline mutation in Peroxisome Proliferator-Activated Receptor gamma gene associated with large intestine polyp formation and dyslipidemia (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- F(2)-dihomo-isoprostanes as potential early biomarkers of lipid oxidative damage in Rett syndrome (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Subclinical myocardial dysfunction in Rett syndrome (Articolo in rivista) (Prodotto della ricerca)
- Molecular and epigenetic analysis of the fragile histidine triad tumour suppressor gene in equine sarcoids (Articolo in rivista) (Prodotto della ricerca)
- The 'recently' split transfer RNA genes may be close to merging the two halves of the tRNA rather than having just separated them (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- The Origin of the 5S Ribosomal RNA Molecule Could Have Been Caused by a Single Inverse Duplication: Strong Evidence from Its Sequences (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Nephrological findings and genotype-phenotype correlation in Beckwith-Wiedemann syndrome (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- O6-methylguanine-DNA methyltransferase in equine sarcoids: molecular and epigenetic analysis. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- MeCP2 as a genome-wide modulator: the renewal of an old story. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Feasibility and effectiveness of a population-based newborn hearing screening in an economically deprived region of Italy. (Articolo in rivista) (Prodotto della ricerca)
- RNA-Seq and human complex diseases: recent accomplishments and future perspectives. (Articolo in rivista) (Prodotto della ricerca)
- Non-coding RNA and pseudogenes in neurodegenerative diseases: \"The (un)Usual Suspects\". (Articolo in rivista) (Prodotto della ricerca)
- Assembly of the auditory circuitry by a hox genetic network in the mouse brainstem. (Articolo in rivista) (Prodotto della ricerca)
- Molecular analysis of the mature T cell proliferation-1 (MTCP-1) gene in Xq28-linked incontinentia pigmenti (Articolo in rivista) (Prodotto della ricerca)
- TYPE-2 VASOPRESSIN RECEPTOR GENE, THE GENE RESPONSIBLE FOR NEPHROGENIC DIABETES-INSIPIDUS, MAPS TO XQ28 CLOSE TO THE L1CAM GENE (Articolo in rivista) (Prodotto della ricerca)
- The Control Region of Mitochondrial DNA Shows an Unusual CpG and Non-CpG Methylation Pattern. (Articolo in rivista) (Prodotto della ricerca)
- Imerslund-Gräsbeck syndrome in a 25-month-old Italian girl caused by a homozygous mutation in AMN. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- The origin of the genetic code: matter of metabolism or physicochemical determinism? (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Patologia Testa-Collo Organi di Senso (Contributo in volume (capitolo o saggio)) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1201)
- GJB2 Gene Mutations in Syndromic Skin Diseases with Sensorineural Hearing Loss (Articolo in rivista) (Prodotto della ricerca)
- Genetics Aspects in Non-Syndromic Forms of Sensorineural Hearing Loss (Contributo in volume (capitolo o saggio)) (Prodotto della ricerca)
- The origin of the genetic code in the ocean abysses: new comparisons confirm old observations (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Analysis of SEMA6B gene expression in breast cancer: Identification of a new isoform. (Articolo in rivista) (Prodotto della ricerca)
- YAC CONTIG ORGANIZATION AND CPG ISLAND ANALYSIS IN XQ28 (Articolo in rivista) (Prodotto della ricerca)
- YAC-ASSISTED CLONING OF TRANSCRIBED SEQUENCES FROM THE HUMAN CHROMOSOME-3P21 REGION (Articolo in rivista) (Prodotto della ricerca)
- Unique X-linked familial FSGS with co-segregating heart block disorder is associated with a mutation in the NXF5 gene. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Digenic mutational inheritance of the integrin alpha 7 and the myosin heavy chain 7B genes causes congenital myopathy with left ventricular non-compact cardiomyopathy. (Articolo in rivista) (Prodotto della ricerca)
- Common susceptibility alleles and SQSTM1 mutations predict disease extent and severity in a multinational study of patients with Paget's disease. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Prevalence of beckwith-wiedemann syndrome in North West of Italy. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- The rs39335 polymorphism of the RELN gene is not associated with otosclerosis in a southern Italian population. (Articolo in rivista) (Prodotto della ricerca)
- Non-coding RNA in Neurodegeneration (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Oral administration of d-limonene controls inflammation in rat colitis and displays anti-inflammatory properties as diet supplementation in humans (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Mutational analysis for GJB2, GJB6, and GJB3 genes in Campania within a universal neonatal hearing screening programme (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Association of a GRIA3 Gene Polymorphism With Migraine in an Australian Case-Control Cohort. (Articolo in rivista) (Prodotto della ricerca)
- Clinical utility gene card for: Beckwith-Wiedemann syndrome. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Distinct disease phenotypes linked to different combinations of GAA mutations in a large late-onset GSDII sibship. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Newborn hearing screening in the Campania region (Italy): early language and perceptual outcomes of infants with permanent hearing loss. (Articolo in rivista) (Prodotto della ricerca)
- Non-coding RNAs in chromatin disease involving neurological defects (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Paget disease of bone-associated UBA domain mutations of SQSTM1 exert distinct effects on protein structure and function (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Connexin 26 variant carriers have a better gastrointestinal health: is this the heterozygote advantage? (Articolo in rivista) (Prodotto della ricerca)
- Paget's disease of bone: epidemiology, pathogenesis and pharmacotherapy (Articolo in rivista) (Prodotto della ricerca)
- Looking for CDKN1C enhancers (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Giant breast tumors in a patient with Beckwith-Wiedemann syndrome (Articolo in rivista) (Prodotto della ricerca)
- A novel GBE1 mutation and features of polyglucosan bodies autophagy in Adult Polyglucosan Body Disease (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Mesenchymal Stromal Cells: from Bone Marrow to Neoplastic Disorders (Articolo in rivista) (Prodotto della ricerca)
- In Embryonic Stem Cells, ZFP57/KAP1 Recognize a Methylated Hexanucleotide to Affect Chromatin and DNA Methylation of Imprinting Control Regions (Articolo in rivista) (Prodotto della ricerca)
- Epigenetic control of hypoxia inducible factor-1?-dependent expression of placental growth factor in hypoxic conditions (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Oxidative brain damage in Mecp2-mutant murine models of Rett syndrome (Articolo in rivista) (Prodotto della ricerca)
- PPARG in Human Adipogenesis: Differential Contribution of Canonical Transcripts and Dominant Negative Isoforms (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- RNA-Seq for the identification of novel Mediator transcripts in endothelial progenitor cells (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Exclusion of TNFRSF11B as Candidate Gene for Otosclerosis in Campania Population. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- The PEG13-DMR and brain-specific enhancers dictate imprinted expression within the 8q24 intellectual disability risk locus (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Very good performance with bimodal stimulation in a like-hybrid modality in a patient with profound bilateral sensorineural hearing loss with low-frequencies preservation (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- High grade glioblastoma is associated with aberrant expression of ZFP57, a protein involved in gene imprinting, and of CPT1A and CPT1C that regulate fatty acid metabolism (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Molecular Genetics of Paget's Disease of Bone (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- A non-synonymous TNFRSF11A variation increases NFkB activity and the severity of Paget's disease. (Articolo in rivista) (Prodotto della ricerca)
- Ruolo della Melatonina nelle Patologie Metaboliche osee (Articolo in rivista) (Prodotto della ricerca)
- A functional allelic variant of the FGF23 gene is associated with renal phospate leak in calcium nephrolithiasis. (Articolo in rivista) (Prodotto della ricerca)
- AnaLysis of Expression on human chromosome 21, ALE-HSA21: a pilot integrated web resource (Articolo in rivista) (Prodotto della ricerca)
- Clinical characteristics and evolution of giant cell tumor occurring in paget's disease of bone. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Understanding gene regulatory mechanisms by integrating ChIP-seq and RNA-seq data: statistical solutions to biological problems. (Articolo in rivista) (Prodotto della ricerca)
- Functional Characterization of the RNA Chaperone Hfq in the Opportunistic Human Pathogen Stenotrophomonas maltophilia (Articolo in rivista) (Prodotto della ricerca)
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