http://www.cnr.it/ontology/cnr/individuo/unitaDiPersonaleInterno/MATRICOLA8209
TERESA ESPOSITO
- Type
- Label
- TERESA ESPOSITO (literal)
- TERESA ESPOSITO (literal)
- Subject
- Persona in rapporto
- Autore CNR di
- FSHR GENE POLYMORPHISMS INFLUENCE BMD AND BONE TURNOVER IN POSTMENOPAUSAL WOMEN BUT NOT ELDERLY MEN (Contributo in atti di convegno) (Prodotto della ricerca)
- Glutamate Receptor Subunit 3 and Migraine Susceptibility (Contributo in atti di convegno) (Prodotto della ricerca)
- piR_015520 Belongs to Piwi-Associated RNAs Regulates Expression of the Human Melatonin Receptor 1A Gene (Articolo in rivista) (Prodotto della ricerca)
- Association of a GRIA3 Gene Polymorphism With Migraine in an Australian Case-Control Cohort. (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) (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)
- 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)
- A recurrent deletion in the ubiquitously expressed NEMO (IKK-gamma) gene accounts for the vast majority of incontinentia pigmenti mutations. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Epidemiological, clinical, and genetic characteristics of Paget's disease of bone in a rural area of Calabria, Southern Italy (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Differential divergence of three human pseudoautosomal genes and their mouse homologs: implications for sex chromosome evolution. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Systematic generation of X-chromosome specific sequence-tagged sites (STSs). (Abstract/Poster in atti di convegno) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1302)
- A functional allelic variant of the FGF23 gene is associated with renal phospate leak in calcium nephrolithiasis. (Articolo in rivista) (Prodotto della ricerca)
- Paget's disease of bone: epidemiology, pathogenesis and pharmacotherapy (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)
- Incontinentia Pigmenti Type 2 (IP2): isolation and characterisation of the gene through trascriptional and sequence analysis (Abstract/Poster in atti di convegno) (Prodotto della ricerca)
- A non-synonymous TNFRSF11A variation increases NFkB activity and the severity of Paget's disease (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)
- 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)
- X-Cromosome STSs: a tool for mapping the human X chromosome. (Abstract/Poster in atti di convegno) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1302)
- Investigation of GRIA3 Receptor Gene and Migraine Susceptibility (Contributo in atti di convegno) (Prodotto della ricerca)
- From Sequence Analysis to diseases identification in the distal human Xq28. (Abstract/Poster in atti di convegno) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1302)
- 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)
- 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)
- Exclusion of TNFRSF11B as Candidate Gene for Otosclerosis in Campania Population. (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)
- A synaptobrevin-like gene in the Xq28 pseudoautosomal region undergoes X inactivation (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)
- Paget disease of bone-associated UBA domain mutations of SQSTM1 exert distinct effects on protein structure and function (Articolo in rivista) (Prodotto della ricerca)
- The melatonin receptor 1a (MTNR1A) gene is associated with recurrent and idiopathic calcium nephrolithiasis (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Genomic organization and transcriptional analysis of the long arm of the X chromosome. (Abstract/Poster in atti di convegno) (Prodotto della ricerca)
- Organization of a 1.2 Mb YAC contig spanning the entire iduronate sulfatase gene (Abstract/Poster in atti di convegno) (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)
- Diagnostic and therapeutic means for kidney stone related pathologies (Brevetto) (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)
- 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)
- Differentially regulated and evolved genes in the fully sequenced Xq/Yq pseudoautosomal region (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Isolation, physical mapping, and northern analysis of the X-linked human gene encoding methyl CpG-binding protein, MECP2 (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Genetic variants of Y chromosome are associated with a protective lipid profile in black men (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)
- 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)
- Ogliastra Project: Population, Methodology and Results. (Abstract/Poster in atti di convegno) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1302)
- Identification of a novel gene and a common variant associated with uric acid nephrolithiasis in a Sardinian genetic isolate. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- YAC-ASSISTED CLONING OF TRANSCRIBED SEQUENCES FROM THE HUMAN CHROMOSOME-3P21 REGION (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- YAC CONTIG ORGANIZATION AND CPG ISLAND ANALYSIS IN XQ28 (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)
- Molecular analysis of the mature T cell proliferation-1 (MTCP-1) gene in Xq28-linked incontinentia pigmenti (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- 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)
- A novel pseudoautosomal gene encoding a putative GTP-binding protein resides in the vicinity of the Xp/Yp telomere (Articolo in rivista) (Prodotto della ricerca)
- A novel pseudoautosomal human gene encodes a putative protein similar to Ac-like transposases (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Sequence-tagged sites (STSs) from YAC insert-ends and X-specific flow-sorted chromosomes (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Emergence of Talanin protein associated with human uric acid nephrolithiasis in the Hominidae lineage (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) (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)
- A spectrum of molecular variation in a cohort of Italian families with trimethylaminuria: identification of three novel mutations of the FM03 gene (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) (Prodotto della ricerca)
- X-linked familial typical migraine: genetic and physical refinement of the locus and molecular analysis of candidate genes. (Abstract/Poster in atti di convegno) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1302)
- Investigation of Gamma-aminobutyric acid (GABA) A receptors genes and migraine susceptibility (Articolo in rivista) (Prodotto della ricerca)
- Multiple pathogenic and benign genomic rearrangements occur at a 35 kb duplication involving the NEMO and LAGE2 genes. (Articolo in rivista) (Prodotto della ricerca)
- Characterization of the murine orthologue of a novel human subtelomeric multigene family. (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) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Survival of male patients with incontinentia pigmenti carrying a lethal mutation can be explained by somatic mosaicism or Klinefelter syndrome. (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)
- Physical and genetic characterization reveals a pseudogene, an evolutionary junction, and unstable loci in distal Xq28 (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Bone Turnover and the Osteoprotegerin-RANKL Pathway in Tumor-Induced Osteomalacia: A Longitudinal Study of Five Cases (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)
- Highly variable penetrance in subjects affected with cavernous cerebral angiomas (CCM) carrying novel CCM1 and CCM2 (Articolo in rivista) (Prodotto della ricerca)
- Coautore
- Nome
- Cognome
- Afferisce a
- Ha pubblicazioni con
Incoming links:
- Autore CNR
- 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)
- Glutamate Receptor Subunit 3 and Migraine Susceptibility (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)
- Emergence of Talanin protein associated with human uric acid nephrolithiasis in the Hominidae lineage (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Highly variable penetrance in subjects affected with cavernous cerebral angiomas (CCM) carrying novel CCM1 and CCM2 (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)
- Vitamin D Receptor Gene Polymorphisms Predict Acquired Resistance to Clodronate Treatment in Patients with Paget Disease of Bone (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Bone Turnover and the Osteoprotegerin-RANKL Pathway in Tumor-Induced Osteomalacia: A Longitudinal Study of Five Cases (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)
- Epidemiological, clinical, and genetic characteristics of Paget's disease of bone in a rural area of Calabria, Southern 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)
- Identification of a novel gene and a common variant associated with uric acid nephrolithiasis in a Sardinian genetic isolate. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Multiple pathogenic and benign genomic rearrangements occur at a 35 kb duplication involving the NEMO and LAGE2 genes. (Articolo in rivista) (Prodotto della ricerca)
- Characterization of the murine orthologue of a novel human subtelomeric multigene family. (Articolo in rivista) (Prodotto della ricerca)
- Survival of male patients with incontinentia pigmenti carrying a lethal mutation can be explained by somatic mosaicism or Klinefelter syndrome. (Articolo in rivista) (Prodotto della ricerca)
- Investigation of Gamma-aminobutyric acid (GABA) A receptors genes and migraine susceptibility (Articolo in rivista) (Prodotto della ricerca)
- Different spectra of genomic deletions within the CCM genes between Italian and American CCM patient cohorts (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) (Prodotto della ricerca)
- A nonsynonymous TNFRSF11A variation increases NFkB activity and the severity of Paget's disease (Articolo in rivista) (Prodotto della ricerca)
- A spectrum of molecular variation in a cohort of Italian families with trimethylaminuria: identification of three novel mutations of the FM03 gene (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Physical and genetic characterization reveals a pseudogene, an evolutionary junction, and unstable loci in distal Xq28 (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Differential divergence of three human pseudoautosomal genes and their mouse homologs: implications for sex chromosome evolution. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- A recurrent deletion in the ubiquitously expressed NEMO (IKK-gamma) gene accounts for the vast majority of incontinentia pigmenti mutations. (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)
- The melatonin receptor 1a (MTNR1A) gene is associated with recurrent and idiopathic calcium nephrolithiasis (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- 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)
- Ogliastra Project: Population, Methodology and Results. (Abstract/Poster in atti di convegno) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1302)
- 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)
- Diagnostic and therapeutic means for kidney stone related pathologies (Brevetto) (Prodotto della ricerca)
- Genetic variants of Y chromosome are associated with a protective lipid profile in black men (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)
- A synaptobrevin-like gene in the Xq28 pseudoautosomal region undergoes X inactivation (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Isolation, physical mapping, and northern analysis of the X-linked human gene encoding methyl CpG-binding protein, MECP2 (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Differentially regulated and evolved genes in the fully sequenced Xq/Yq pseudoautosomal region (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- A novel pseudoautosomal gene encoding a putative GTP-binding protein resides in the vicinity of the Xp/Yp telomere (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) (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)
- Incontinentia Pigmenti Type 2 (IP2): isolation and characterisation of the gene through trascriptional and sequence analysis (Abstract/Poster in atti di convegno) (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)
- A novel pseudoautosomal human gene encodes a putative protein similar to Ac-like transposases (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- YAC CONTIG ORGANIZATION AND CPG ISLAND ANALYSIS IN XQ28 (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- YAC-ASSISTED CLONING OF TRANSCRIBED SEQUENCES FROM THE HUMAN CHROMOSOME-3P21 REGION (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)
- 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) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Sequence-tagged sites (STSs) from YAC insert-ends and X-specific flow-sorted chromosomes (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- X-linked familial typical migraine: genetic and physical refinement of the locus and molecular analysis of candidate genes. (Abstract/Poster in atti di convegno) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1302)
- X-Cromosome STSs: a tool for mapping the human X chromosome. (Abstract/Poster in atti di convegno) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1302)
- From Sequence Analysis to diseases identification in the distal human Xq28. (Abstract/Poster in atti di convegno) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1302)
- 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)
- 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)
- Association of a GRIA3 Gene Polymorphism With Migraine in an Australian Case-Control Cohort. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Systematic generation of X-chromosome specific sequence-tagged sites (STSs). (Abstract/Poster in atti di convegno) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1302)
- Organization of a 1.2 Mb YAC contig spanning the entire iduronate sulfatase gene (Abstract/Poster in atti di convegno) (Prodotto della ricerca)
- Genomic organization and transcriptional analysis of the long arm of the X chromosome. (Abstract/Poster in atti di convegno) (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)
- Paget disease of bone-associated UBA domain mutations of SQSTM1 exert distinct effects on protein structure and function (Articolo in rivista) (Prodotto della ricerca)
- Paget's disease of bone: epidemiology, pathogenesis and pharmacotherapy (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- 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)
- Exclusion of TNFRSF11B as Candidate Gene for Otosclerosis in Campania Population. (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)
- A functional allelic variant of the FGF23 gene is associated with renal phospate leak in calcium nephrolithiasis. (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)
- A non-synonymous TNFRSF11A variation increases NFkB activity and the severity of Paget's disease (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Coautore
- Ha pubblicazioni con
- Ha afferente
- Rapporto con persona
- Http://www.w3.org/2004/02/skos/core#isSubjectOf
