CNR Institutional Research Information System

TONIOLO, DANIELA
 Distribuzione geografica
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Continente #
AS - Asia 28
EU - Europa 2
NA - Nord America 1
Totale 31
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Nazione #
KR - Corea 23
SG - Singapore 5
IT - Italia 2
US - Stati Uniti d'America 1
Totale 31
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Città #
Seoul 23
Singapore 4
Forest City 1
Totale 28
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Nome #
Mutation analysis of the lamin A/C gene (LMNA) among patients with different cardiomuscular phenotypes. 2
Identification of new mutations in the Emery-Dreifuss muscular dystrophy gene and evidence for genetic heterogeneity of the disease. 1
Association of a variant in the CHRNA5-A3-B4 gene cluster region to heavy smoking in the Italian population. 1
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. 1
Alterations in the expression, structure and function of Progesterone Receptor Membrane Component-1 (PGRMC1) in premature ovarian failure. 1
A susceptibility gene for premature ovarian failure (POF) maps to proximal Xq28. 1
BMP15 mutations associated with primary ovarian insufficiency cause a defective production of bioactive protein. 1
Isolation of new genes in distal Xq28: transcriptional map and identification of a human homologue of the ARD1 N-acetyl transferase of Saccharomyces cerevisiae. 1
Molecular analysis of X-linked immunodeficiency with hyper-IgM and X-linked lymphoproliferative syndrome. 1
Clinical relevance of atrial fibrillation/flutter, stroke, pacemaker implant, and heart failure in Emery-Dreifuss 1
A mutation in the X-linked Emery-Dreifuss muscular dystrophy gene in a patient affected with conduction cardiomyopathy 1
A novel X-linked gene, G4.5. is responsible for Barth syndrome. 1
Deletion of the mental retardation gene Gdi1 impairs associative memory and alters social behavior in mice. 1
A family of transmembrane proteins with homology to the MET-hepatocyte growth factor receptor. 1
A comparative transcriptional map of a region of 250 kb on the human and mouse X chromosome between the G6PD and the FLN1 genes. 1
Cardiac features of Emery-Dreifuss muscular dystrophy caused by lamin A/C gene mutations. 1
Identification of a novel X-linked gene responsible for Emery-Dreifuss muscular dystrophy. 1
Characterization of phenotypic traits in val Borbera, a large genetic isolate in Northern Italy 1
High throughput screening of candidate genes for X-linked premature ovarian failure 1
Influence of age, sex and ethnicity on platelet count in five Italian geographic isolates: mild thrombocytopenia may be physiological. 1
Analysis of intergenic conserved sequences in the POF critical region on X chromosome 1
Association studies of candidate genes for Premature Ovarian Failure (POF) 1
Identification of Novel Genetic Loci Associated with Thyroid Peroxidase Antibodies and Clinical Thyroid Disease 1
Common Variants in UMOD Associate with Urinary Uromodulin Levels: A Meta-Analysis 1
Whole-genome sequence-based analysis of thyroid function 1
Meta-analyses identify 13 loci associated with age at menopause and highlight DNA repair and immune pathways. 1
Computer-based genealogy reconstruction in founder populations. 1
Chromosomal rearrangements in Xq and premature ovarian failure: mapping of 25 new cases and review of the literature. 1
An X chromosome-linked gene encoding a protein with characteristics of a rhoGAP predominantly expressed in hematopoietic cells. 1
A large-scale association study to assess the impact of known variants of the human INHA gene on premature ovarian failure. 1
Totale 31
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Categoria #
all - tutte 1.132
article - articoli 817
book - libri 0
conference - conferenze 0
curatela - curatele 0
other - altro 0
patent - brevetti 0
selected - selezionate 0
volume - volumi 23
Totale 1.972
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2023/202426 0 0 0 0 0 0 0 0 0 2 23 1
2024/20255 1 4 0 0 0 0 0 0 0 0 0 0
Totale 31