http://www.cnr.it/ontology/cnr/individuo/unitaDiPersonaleInterno/MATRICOLA20284
DANIELA TONIOLO
- Type
- Label
- DANIELA TONIOLO (literal)
- DANIELA TONIOLO (literal)
- Subject
- Partecipa a commessa
- Persona in rapporto
- Autore CNR di
- Emery-Dreifuss Muscular Dystrophy (Contributo in volume (capitolo o saggio)) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1201)
- Emerin evaluation in Emery-Dreifuss muscular dystrophy patients (Abstract/Poster in atti di convegno) (Prodotto della ricerca)
- Transcriptional organization of a 450-kb region of the human X chromosome in Xq28. (Articolo in rivista) (Prodotto della ricerca)
- Methylation and sequence analysis around EagI sites: identification of 28 new CpG islands in XQ24-XQ28. (Articolo in rivista) (Prodotto della ricerca)
- IDENTIFICATION OF GENES AND CONSTRUCTION OF A TRANSCRIPTIONAL MAP IN XQ28 (Abstract/Poster in atti di convegno) (Prodotto della ricerca)
- Sequence variation at the human FOXO3 locus: A study of premature ovarian failure and primary amenorrhea. (Abstract/Poster in atti di convegno) (Prodotto della ricerca)
- IDENTIFICATION OF GENES AND CONSTRUCTION OF A TRANSCRIPTIONAL MAP IN XQ28 (Abstract/Poster in atti di convegno) (Prodotto della ricerca)
- A large-scale association study to assess the impact of known variants of the human INHA gene on premature ovarian failure. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- An X chromosome-linked gene encoding a protein with characteristics of a rhoGAP predominantly expressed in hematopoietic cells. (Articolo in rivista) (Prodotto della ricerca)
- Identification of new mutations in the Emery-Dreifuss muscular dystrophy gene and evidence for genetic heterogeneity of the disease. (Articolo in rivista) (Prodotto della ricerca)
- Identification of a novel X-linked gene responsible for Emery-Dreifuss muscular dystrophy. (Articolo in rivista) (Prodotto della ricerca)
- Sequence and gene content in 52 kb including and centromeric to the G6PD gene in Xq28. (Articolo in rivista) (Prodotto della ricerca)
- Highly conserved non-coding sequences and the 18q critical region for short stature: a common mechanism of disease? (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- A novel X-linked gene, G4.5. is responsible for Barth syndrome. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- X-linked Emery-Dreifuss muscular dystrophy can be diagnosed from skin biopsy or blood sample. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Alterations in the expression, structure and function of Progesterone Receptor Membrane Component-1 (PGRMC1) in premature ovarian failure. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Analysis of intergenic conserved sequences in the POF critical region on X chromosome (Abstract/Poster in atti di convegno) (Prodotto della ricerca)
- Influence of intermediate and uninterrupted FMR1 CGG expansions in premature ovarian failure manifestation. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- X; autosome balanced translocations and ovarian failure: chromatin organization around the breakpoints premature (Abstract/Poster in atti di convegno) (Prodotto della ricerca)
- X;autosome balanced translocations and premature ovarian failure: chromatin organization around the breakpoints. (Abstract/Poster in atti di convegno) (Prodotto della ricerca)
- Skewed X-chromosome inactivation is not associated with premature ovarian failure in a large cohort of Italian patients. (Articolo in rivista) (Prodotto della ricerca)
- Mutation analysis of the lamin A/C gene (LMNA) among patients with different cardiomuscular phenotypes. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Clinical relevance of atrial fibrillation/flutter, stroke, pacemaker implant, and heart failure in Emery-Dreifuss (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- 108th ENMC International Workshop, 3rd Workshop of the MYO-CLUSTER project: EUROMEN, 7th International (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Sequence variation at the human FOXO3 locus: a study of premature ovarian failure and primary amenorrhea. (Articolo in rivista) (Prodotto della ricerca)
- X chromosome and ovarian failure. (Articolo in rivista) (Prodotto della ricerca)
- Long-term treatment of Barth syndrome with pantothenic acid: a retrospective study. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- A mutation in the X-linked Emery-Dreifuss muscular dystrophy gene in a patient affected with conduction cardiomyopathy (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Deletion of the mental retardation gene Gdi1 impairs associative memory and alters social behavior in mice. (Articolo in rivista) (Prodotto della ricerca)
- Spatial and temporal expression of POF1B, a gene expressed in epithelia. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Mutations in the human DACH2 gene as risk factors for Premature Ovarian Failure (Abstract/Poster in atti di convegno) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1302)
- Chromosomal rearrangements in Xq and premature ovarian failure: mapping of 25 new cases and review of the literature. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- A meta-analysis of thyroid-related traits reveals novel loci and gender-specific differences in the regulation of thyroid function. (Articolo in rivista) (Prodotto della ricerca)
- New gene functions in megakaryopoiesis and platelet formation. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Dissecting the genetic basis and molecular mechanisms of Premature Ovarian Failure. (Abstract/Poster in atti di convegno) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1302)
- Influence of age, sex and ethnicity on platelet count in five Italian geographic isolates: mild thrombocytopenia may be physiological. (Articolo in rivista) (Prodotto della ricerca)
- Characterization of phenotypic traits in val Borbera, a large genetic isolate in Northern Italy (Abstract/Poster in atti di convegno) (Prodotto della ricerca)
- High throughput screening of candidate genes for X-linked premature ovarian failure (Abstract/Poster in atti di convegno) (Prodotto della ricerca)
- The X-linked DIAPH2 gene is a risk factor for Premature Ovarian Failure (POF) involved in actin dynamics of ovarian granulosa cells (Abstract/Poster in atti di convegno) (Prodotto della ricerca)
- Multiple loci are associated with white blood cell phenotypes. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- TMPRSS6 rs855791 modulates hepcidin transcription in vitro and serum hepcidin levels in normal individuals (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Computer-based genealogy reconstruction in founder populations. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Mutations in the small GTPase gene RAB39B are responsible for X-linked mental retardation associated with autism, epilepsy, and macrocephaly. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Dissecting the genetic basis and molecular mechanisms of premature ovarian failure (Abstract/Poster in atti di convegno) (Prodotto della ricerca)
- The X-linked DIAPH2 gene is a risk-factor for Premature Ovarian Failure (POF) and accounts for female preponderance among POF patients offspring. (Abstract/Poster in atti di convegno) (Prodotto della ricerca)
- The Genetic Structure of the Val Borbera Population: mtDNA And Y-Chromosome Data. (Abstract/Poster in atti di convegno) (Prodotto della ricerca)
- Genome-wide association analyses identify 18 new loci associated with serum urate concentrations (Articolo in rivista) (Prodotto della ricerca)
- Meta-analyses identify 13 loci associated with age at menopause and highlight DNA repair and immune pathways. (Articolo in rivista) (Prodotto della ricerca)
- The X-linked DIAPH2 gene is a risk-factor for Premature Ovarian Failure (POF) and accounts for female preponderance among POF patients offspring. (Abstract/Poster in atti di convegno) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1302)
- BMP15 mutations associated with primary ovarian insufficiency cause a defective production of bioactive protein. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Phenotypic clustering of lamin A/C mutations in neuromuscular patients. (Articolo in rivista) (Prodotto della ricerca)
- Blood cell mitochondrial DNA content and premature ovarian aging. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Different molecular mechanisms are responsible for X-linked Premature Ovarian Failure (Abstract/Poster in atti di convegno) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1302)
- Forebrain deletion of ?GDI in adult mice worsens the pre-synaptic deficit at cortico-lateral amygdala synaptic connections. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Genealogy reconstruction of the Val Borbera isolated population. (Abstract/Poster in atti di convegno) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1302)
- Serum levels of the hepcidin-20 isoform in a large general population: the Val Borbera study. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- HIGH THROUGHPUT SCREENING OF CANDIDATE GENES FOR X-LINKED PREMATURE OVARIAN FAILURE: THE STUDY DESIGN (Abstract/Poster in atti di convegno) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1302)
- Genealogy reconstruction of the Val Borbera isolated population. (Abstract/Poster in atti di convegno) (Prodotto della ricerca)
- Association studies of candidate genes for Premature Ovarian Failure (POF) (Abstract/Poster in convegno) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1304)
- Different mutations in the LMNA gene cause autosomal dominant and autosomal recessive Emery-Dreifuss muscular dystrophy (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- The human X chromosome in the etiology of Premature Ovarian Failure (POF) (Abstract/Poster in atti di convegno) (Prodotto della ricerca)
- The Val Borbera Project: epidemiological and genealogical analysis of an isolated population in Northern Italy (Abstract/Poster in atti di convegno) (Prodotto della ricerca)
- Deletions in distal Xq and ovarian failure (Abstract/Poster in atti di convegno) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1302)
- Novel loci affecting iron homeostasis and their effects in individuals at risk for hemochromatosis (Articolo in rivista) (Prodotto della ricerca)
- Epigenetic control of the critical region for premature ovarian failure on autosomal genes translocated to the X chromosome: a hypothesis. (Articolo in rivista) (Prodotto della ricerca)
- The X-linked gene G4.5 is responsible for different infantile dilated cardiomyopathies. (Articolo in rivista) (Prodotto della ricerca)
- A human homologue of the Drosophila melanogaster diaphanous gene is disrupted in a patient with premature ovarian failure: evidence for conserved function in oogenesis and implications for human sterility. (Articolo in rivista) (Prodotto della ricerca)
- Association of a variant in the CHRNA5-A3-B4 gene cluster region to heavy smoking in the Italian population. (Articolo in rivista) (Prodotto della ricerca)
- Descriptive analysis of Val Borbera population structure: mtDNA, Y chromosome polymorphisms and linkage disequilibrium. (Abstract/Poster in atti di convegno) (Prodotto della ricerca)
- The X-linked DIAPH2 gene is a risk factor for Premature Ovarian Failure (POF) and its encoded protein is involved in actin dynamics of ovarian granulosa cells. (Abstract/Poster in atti di convegno) (Prodotto della ricerca)
- X chromosome genes and premature ovarian failure. (Articolo in rivista) (Prodotto della ricerca)
- Common Variants in UMOD Associate with Urinary Uromodulin Levels: A Meta-Analysis (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Unusual expression of emerin in a patient with X-linked Emery-Dreifuss muscular dystrophy (Articolo in rivista) (Prodotto della ricerca)
- The effects of a mobile stress management protocol on nurses working with cancer patients: a preliminary controlled study. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Seventy-five genetic loci influencing the human red blood cell (Articolo in rivista) (Prodotto della ricerca)
- Variation of hemoglobin levels in normal Italian populations from genetic isolates (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Heritability and demographic analyses in the large isolated population of Val Borbera suggest advantages in mapping complex traits genes (Articolo in rivista) (Prodotto della ricerca)
- Evidence of inbreeding depression on human height (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Meta-analysis identifies multiple loci associated with kidney function-related traits in east Asian populations. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- A susceptibility gene for premature ovarian failure (POF) maps to proximal Xq28. (Articolo in rivista) (Prodotto della ricerca)
- Mutation analysis of two candidate genes for premature ovarian failure, DACH2 and POF1B. (Articolo in rivista) (Prodotto della ricerca)
- Dominant LMNA mutations can cause combined muscular dystrophy and peripheral neuropathy. (Articolo in rivista) (Prodotto della ricerca)
- Chromosome positioning is largely unaffected in lymphoblastoid cell lines containing emerin or A-type lamin mutations. (Articolo in rivista) (Prodotto della ricerca)
- Identification of Novel Genetic Loci Associated with Thyroid Peroxidase Antibodies and Clinical Thyroid Disease (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Cardiac features of Emery-Dreifuss muscular dystrophy caused by lamin A/C gene mutations. (Articolo in rivista) (Prodotto della ricerca)
- Frequent low penetrance mutations in the Lamin A/C gene, causing Emery Dreifuss muscular dystrophy. (Articolo in rivista) (Prodotto della ricerca)
- A comparative transcriptional map of a region of 250 kb on the human and mouse X chromosome between the G6PD and the FLN1 genes. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Molecular analysis of X-linked immunodeficiency with hyper-IgM and X-linked lymphoproliferative syndrome. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Isolation of new genes in distal Xq28: transcriptional map and identification of a human homologue of the ARD1 N-acetyl transferase of Saccharomyces cerevisiae. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- POF2 gene may be responsible for the ovarian phenotype of Turner syndrome. (Abstract/Poster in atti di convegno) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1302)
- The human diaphanous gene is responsible for premature ovarian failure (POF). (Abstract/Poster in atti di convegno) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1302)
- Familial periventricular heterotopia: missense and distal truncating mutations of the FLN1 gene. (Articolo in rivista) (Prodotto della ricerca)
- A family of transmembrane proteins with homology to the MET-hepatocyte growth factor receptor. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Coautore
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- Ha pubblicazioni con
- Http://www.cnr.it/ontology/persone.owl#argomentoDiRicercaSimile
Incoming links:
- Coautore
- Ha afferente
- Http://www.cnr.it/ontology/persone.owl#argomentoDiRicercaSimile
- Ha pubblicazioni con
- Partecipazione di
- Rapporto con persona
- Autore CNR
- Familial periventricular heterotopia: missense and distal truncating mutations of the FLN1 gene. (Articolo in rivista) (Prodotto della ricerca)
- Cardiac features of Emery-Dreifuss muscular dystrophy caused by lamin A/C gene mutations. (Articolo in rivista) (Prodotto della ricerca)
- Chromosome positioning is largely unaffected in lymphoblastoid cell lines containing emerin or A-type lamin mutations. (Articolo in rivista) (Prodotto della ricerca)
- Dominant LMNA mutations can cause combined muscular dystrophy and peripheral neuropathy. (Articolo in rivista) (Prodotto della ricerca)
- Chromosomal rearrangements in Xq and premature ovarian failure: mapping of 25 new cases and review of the literature. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Spatial and temporal expression of POF1B, a gene expressed in epithelia. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Sequence variation at the human FOXO3 locus: a study of premature ovarian failure and primary amenorrhea. (Articolo in rivista) (Prodotto della ricerca)
- X chromosome and ovarian failure. (Articolo in rivista) (Prodotto della ricerca)
- Alterations in the expression, structure and function of Progesterone Receptor Membrane Component-1 (PGRMC1) in premature ovarian failure. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Computer-based genealogy reconstruction in founder populations. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- TMPRSS6 rs855791 modulates hepcidin transcription in vitro and serum hepcidin levels in normal individuals (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Frequent low penetrance mutations in the Lamin A/C gene, causing Emery Dreifuss muscular dystrophy. (Articolo in rivista) (Prodotto della ricerca)
- Mutation analysis of two candidate genes for premature ovarian failure, DACH2 and POF1B. (Articolo in rivista) (Prodotto della ricerca)
- A susceptibility gene for premature ovarian failure (POF) maps to proximal Xq28. (Articolo in rivista) (Prodotto della ricerca)
- Mutation analysis of the lamin A/C gene (LMNA) among patients with different cardiomuscular phenotypes. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Clinical relevance of atrial fibrillation/flutter, stroke, pacemaker implant, and heart failure in Emery-Dreifuss (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- 108th ENMC International Workshop, 3rd Workshop of the MYO-CLUSTER project: EUROMEN, 7th International (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Influence of intermediate and uninterrupted FMR1 CGG expansions in premature ovarian failure manifestation. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Highly conserved non-coding sequences and the 18q critical region for short stature: a common mechanism of disease? (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- A large-scale association study to assess the impact of known variants of the human INHA gene on premature ovarian failure. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Influence of age, sex and ethnicity on platelet count in five Italian geographic isolates: mild thrombocytopenia may be physiological. (Articolo in rivista) (Prodotto della ricerca)
- Long-term treatment of Barth syndrome with pantothenic acid: a retrospective study. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- A mutation in the X-linked Emery-Dreifuss muscular dystrophy gene in a patient affected with conduction cardiomyopathy (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Deletion of the mental retardation gene Gdi1 impairs associative memory and alters social behavior in mice. (Articolo in rivista) (Prodotto della ricerca)
- Skewed X-chromosome inactivation is not associated with premature ovarian failure in a large cohort of Italian patients. (Articolo in rivista) (Prodotto della ricerca)
- Phenotypic clustering of lamin A/C mutations in neuromuscular patients. (Articolo in rivista) (Prodotto della ricerca)
- BMP15 mutations associated with primary ovarian insufficiency cause a defective production of bioactive protein. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Mutations in the small GTPase gene RAB39B are responsible for X-linked mental retardation associated with autism, epilepsy, and macrocephaly. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Multiple loci are associated with white blood cell phenotypes. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Deletions in distal Xq and ovarian failure (Abstract/Poster in atti di convegno) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1302)
- The human X chromosome in the etiology of Premature Ovarian Failure (POF) (Abstract/Poster in atti di convegno) (Prodotto della ricerca)
- The Val Borbera Project: epidemiological and genealogical analysis of an isolated population in Northern Italy (Abstract/Poster in atti di convegno) (Prodotto della ricerca)
- HIGH THROUGHPUT SCREENING OF CANDIDATE GENES FOR X-LINKED PREMATURE OVARIAN FAILURE: THE STUDY DESIGN (Abstract/Poster in atti di convegno) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1302)
- Association studies of candidate genes for Premature Ovarian Failure (POF) (Abstract/Poster in convegno) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1304)
- Genealogy reconstruction of the Val Borbera isolated population. (Abstract/Poster in atti di convegno) (Prodotto della ricerca)
- Descriptive analysis of Val Borbera population structure: mtDNA, Y chromosome polymorphisms and linkage disequilibrium. (Abstract/Poster in atti di convegno) (Prodotto della ricerca)
- The X-linked DIAPH2 gene is a risk factor for Premature Ovarian Failure (POF) and its encoded protein is involved in actin dynamics of ovarian granulosa cells. (Abstract/Poster in atti di convegno) (Prodotto della ricerca)
- Analysis of intergenic conserved sequences in the POF critical region on X chromosome (Abstract/Poster in atti di convegno) (Prodotto della ricerca)
- X; autosome balanced translocations and ovarian failure: chromatin organization around the breakpoints premature (Abstract/Poster in atti di convegno) (Prodotto della ricerca)
- X;autosome balanced translocations and premature ovarian failure: chromatin organization around the breakpoints. (Abstract/Poster in atti di convegno) (Prodotto della ricerca)
- The X-linked DIAPH2 gene is a risk-factor for Premature Ovarian Failure (POF) and accounts for female preponderance among POF patients offspring. (Abstract/Poster in atti di convegno) (Prodotto della ricerca)
- Dissecting the genetic basis and molecular mechanisms of premature ovarian failure (Abstract/Poster in atti di convegno) (Prodotto della ricerca)
- The Genetic Structure of the Val Borbera Population: mtDNA And Y-Chromosome Data. (Abstract/Poster in atti di convegno) (Prodotto della ricerca)
- The X-linked DIAPH2 gene is a risk factor for Premature Ovarian Failure (POF) involved in actin dynamics of ovarian granulosa cells (Abstract/Poster in atti di convegno) (Prodotto della ricerca)
- Characterization of phenotypic traits in val Borbera, a large genetic isolate in Northern Italy (Abstract/Poster in atti di convegno) (Prodotto della ricerca)
- High throughput screening of candidate genes for X-linked premature ovarian failure (Abstract/Poster in atti di convegno) (Prodotto della ricerca)
- Dissecting the genetic basis and molecular mechanisms of Premature Ovarian Failure. (Abstract/Poster in atti di convegno) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1302)
- Mutations in the human DACH2 gene as risk factors for Premature Ovarian Failure (Abstract/Poster in atti di convegno) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1302)
- Different molecular mechanisms are responsible for X-linked Premature Ovarian Failure (Abstract/Poster in atti di convegno) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1302)
- Genealogy reconstruction of the Val Borbera isolated population. (Abstract/Poster in atti di convegno) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1302)
- The X-linked DIAPH2 gene is a risk-factor for Premature Ovarian Failure (POF) and accounts for female preponderance among POF patients offspring. (Abstract/Poster in atti di convegno) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1302)
- Epigenetic control of the critical region for premature ovarian failure on autosomal genes translocated to the X chromosome: a hypothesis. (Articolo in rivista) (Prodotto della ricerca)
- New gene functions in megakaryopoiesis and platelet formation. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Molecular analysis of X-linked immunodeficiency with hyper-IgM and X-linked lymphoproliferative syndrome. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Seventy-five genetic loci influencing the human red blood cell (Articolo in rivista) (Prodotto della ricerca)
- Heritability and demographic analyses in the large isolated population of Val Borbera suggest advantages in mapping complex traits genes (Articolo in rivista) (Prodotto della ricerca)
- Meta-analyses identify 13 loci associated with age at menopause and highlight DNA repair and immune pathways. (Articolo in rivista) (Prodotto della ricerca)
- Genome-wide association analyses identify 18 new loci associated with serum urate concentrations (Articolo in rivista) (Prodotto della ricerca)
- Forebrain deletion of ?GDI in adult mice worsens the pre-synaptic deficit at cortico-lateral amygdala synaptic connections. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Blood cell mitochondrial DNA content and premature ovarian aging. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Serum levels of the hepcidin-20 isoform in a large general population: the Val Borbera study. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Association of a variant in the CHRNA5-A3-B4 gene cluster region to heavy smoking in the Italian population. (Articolo in rivista) (Prodotto della ricerca)
- Variation of hemoglobin levels in normal Italian populations from genetic isolates (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Evidence of inbreeding depression on human height (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Meta-analysis identifies multiple loci associated with kidney function-related traits in east Asian populations. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- The effects of a mobile stress management protocol on nurses working with cancer patients: a preliminary controlled study. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- X chromosome genes and premature ovarian failure. (Articolo in rivista) (Prodotto della ricerca)
- Unusual expression of emerin in a patient with X-linked Emery-Dreifuss muscular dystrophy (Articolo in rivista) (Prodotto della ricerca)
- X-linked Emery-Dreifuss muscular dystrophy can be diagnosed from skin biopsy or blood sample. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- A novel X-linked gene, G4.5. is responsible for Barth syndrome. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- An X chromosome-linked gene encoding a protein with characteristics of a rhoGAP predominantly expressed in hematopoietic cells. (Articolo in rivista) (Prodotto della ricerca)
- Identification of new mutations in the Emery-Dreifuss muscular dystrophy gene and evidence for genetic heterogeneity of the disease. (Articolo in rivista) (Prodotto della ricerca)
- Sequence and gene content in 52 kb including and centromeric to the G6PD gene in Xq28. (Articolo in rivista) (Prodotto della ricerca)
- Identification of a novel X-linked gene responsible for Emery-Dreifuss muscular dystrophy. (Articolo in rivista) (Prodotto della ricerca)
- Transcriptional organization of a 450-kb region of the human X chromosome in Xq28. (Articolo in rivista) (Prodotto della ricerca)
- Methylation and sequence analysis around EagI sites: identification of 28 new CpG islands in XQ24-XQ28. (Articolo in rivista) (Prodotto della ricerca)
- Emerin evaluation in Emery-Dreifuss muscular dystrophy patients (Abstract/Poster in atti di convegno) (Prodotto della ricerca)
- Sequence variation at the human FOXO3 locus: A study of premature ovarian failure and primary amenorrhea. (Abstract/Poster in atti di convegno) (Prodotto della ricerca)
- IDENTIFICATION OF GENES AND CONSTRUCTION OF A TRANSCRIPTIONAL MAP IN XQ28 (Abstract/Poster in atti di convegno) (Prodotto della ricerca)
- IDENTIFICATION OF GENES AND CONSTRUCTION OF A TRANSCRIPTIONAL MAP IN XQ28 (Abstract/Poster in atti di convegno) (Prodotto della ricerca)
- Emery-Dreifuss Muscular Dystrophy (Contributo in volume (capitolo o saggio)) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1201)
- Different mutations in the LMNA gene cause autosomal dominant and autosomal recessive Emery-Dreifuss muscular dystrophy (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- A human homologue of the Drosophila melanogaster diaphanous gene is disrupted in a patient with premature ovarian failure: evidence for conserved function in oogenesis and implications for human sterility. (Articolo in rivista) (Prodotto della ricerca)
- The X-linked gene G4.5 is responsible for different infantile dilated cardiomyopathies. (Articolo in rivista) (Prodotto della ricerca)
- A family of transmembrane proteins with homology to the MET-hepatocyte growth factor receptor. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- A comparative transcriptional map of a region of 250 kb on the human and mouse X chromosome between the G6PD and the FLN1 genes. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Isolation of new genes in distal Xq28: transcriptional map and identification of a human homologue of the ARD1 N-acetyl transferase of Saccharomyces cerevisiae. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- POF2 gene may be responsible for the ovarian phenotype of Turner syndrome. (Abstract/Poster in atti di convegno) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1302)
- The human diaphanous gene is responsible for premature ovarian failure (POF). (Abstract/Poster in atti di convegno) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1302)
- A meta-analysis of thyroid-related traits reveals novel loci and gender-specific differences in the regulation of thyroid function. (Articolo in rivista) (Prodotto della ricerca)
- Identification of Novel Genetic Loci Associated with Thyroid Peroxidase Antibodies and Clinical Thyroid Disease (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Novel loci affecting iron homeostasis and their effects in individuals at risk for hemochromatosis (Articolo in rivista) (Prodotto della ricerca)
- Common Variants in UMOD Associate with Urinary Uromodulin Levels: A Meta-Analysis (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Http://www.w3.org/2004/02/skos/core#isSubjectOf
