about
Heritability and demographic analyses in the large isolated population of Val Borbera suggest advantages in mapping complex traits genesIsolation of new genes in distal Xq28: transcriptional map and identification of a human homologue of the ARD1 N-acetyl transferase of Saccharomyces cerevisiaeIdentification of a novel X-linked gene responsible for Emery-Dreifuss muscular dystrophyA family of transmembrane proteins with homology to the MET-hepatocyte growth factor receptorDifferent mutations in the LMNA gene cause autosomal dominant and autosomal recessive Emery-Dreifuss muscular dystrophy.Identification of new mutations in the Emery-Dreifuss muscular dystrophy gene and evidence for genetic heterogeneity of the diseaseA novel X-linked gene, G4.5. is responsible for Barth syndromeSpatial and temporal expression of POF1B, a gene expressed in epitheliaAre myocardial infarction--associated single-nucleotide polymorphisms associated with ischemic stroke?Methylation and sequence analysis around EagI sites: identification of 28 new CpG islands in XQ24-XQ28.Highly conserved non-coding sequences and the 18q critical region for short stature: a common mechanism of disease?CorrelaGenes: a new tool for the interpretation of the human transcriptomeX chromosome genes and premature ovarian failure.Mutation analysis of two candidate genes for premature ovarian failure, DACH2 and POF1B.The X-linked gene G4.5 is responsible for different infantile dilated cardiomyopathies.Characterization of the biological processes shaping the genetic structure of the Italian population.An Association Rule Mining Approach to Discover lncRNAs Expression Patterns in Cancer DatasetsHeritability of young- and old-onset ischaemic stroke.A comparative transcriptional map of a region of 250 kb on the human and mouse X chromosome between the G6PD and the FLN1 genes.Sequence variation at the human FOXO3 locus: a study of premature ovarian failure and primary amenorrhea.BMP15 mutations associated with primary ovarian insufficiency cause a defective production of bioactive proteinAlterations in the expression, structure and function of progesterone receptor membrane component-1 (PGRMC1) in premature ovarian failure.Cross-analysis of gene and miRNA genome-wide expression profiles in human fibroblasts at different stages of transformation.A large-scale association study to assess the impact of known variants of the human INHA gene on premature ovarian failure.Epigenetic control of the critical region for premature ovarian failure on autosomal genes translocated to the X chromosome: a hypothesis.Influence of intermediate and uninterrupted FMR1 CGG expansions in premature ovarian failure manifestation.X-linked emery-dreifuss muscular dystrophy can be diagnosed from skin biopsy or blood sampleVariation of hemoglobin levels in normal Italian populations from genetic isolatesSkewed X-chromosome inactivation is not associated with premature ovarian failure in a large cohort of Italian patientsUnusual expression of emerin in a patient with X-linked Emery–Dreifuss muscular dystrophyHeterogeneous molecular mechanisms underlie attenuated familial adenomatous polyposisA susceptibility gene for premature ovarian failure (POF) maps to proximal Xq28A mutation in the X-linked Emery–Dreifuss muscular dystrophy gene in a patient affected with conduction cardiomyopathySequence and gene content in 52 kb including and centromeric to the G6PD gene in Xq28
P50
Q21142722-708A229B-7D52-4757-B445-0B501B68C909Q24309109-ABAEB1C1-7FDF-4EFC-9E68-71F707B9FD34Q24317622-E0EED840-9011-4D57-9308-68B253D4B8D6Q24318269-ABC4F4DB-82D9-4D3B-A249-AE5C3ACA7B95Q24539152-55EF971A-1FC7-4391-AF4C-B2154840FE67Q28275532-12AF39CF-B56E-4553-91C9-B0A3119E9791Q28278751-CFFDCE61-860E-4E92-9D11-00F329C2F91CQ28593896-57DEF62E-81AA-4F34-AB94-4CD3C0E1A1F1Q30420031-9C2A5C9B-68E0-4264-87D3-4EF1C5163732Q33207276-028B2CAF-1C1F-4BC0-B67C-F1FB99CE337CQ33316011-C20443CC-94D0-4AFE-AA4E-7B7F23653842Q33591669-5EE9480E-62D8-4992-83ED-D36AC6CDAE0FQ33942250-D4377C16-CB8C-4B61-886D-A0E50F643013Q34354760-6B72525B-95D6-47E2-AF32-5CFF9D448ADBQ35249677-5C5B8BE2-4A40-4127-AD0F-D11F6F2406BCQ35836782-0074BC83-CD98-4755-AE01-364FF2D3E88BQ35932166-24838671-CBA8-4F5D-B585-B30992A53340Q36143269-DDCF11C6-2777-4064-9787-E4DBFEB4C270Q36671390-C07B38B1-6072-4879-83CC-6FF3F658C90CQ36965341-11DAE53D-2281-491E-9C02-0E5ABAA8ADBDQ37179550-E8850119-FB7F-42AC-B0D8-AB9565C34B52Q37294816-AF29A3FD-6833-489B-8E6F-6FBB02CF8773Q40963795-E6ED141B-4B2E-440F-80D7-476F26F063DEQ48016212-FE7FD333-97FA-463E-AD35-76E7968FA6DBQ50639684-8A9FDDA0-4AEC-409B-8B9A-708F596E280FQ51923151-DFF518D9-B879-4680-B9F5-10DD44C48601Q57640138-AA585446-26BC-4F9B-9ED3-D20E369C30AFQ57747726-BD7112AE-89DE-4D43-82C4-C44087127832Q58880789-85BDD665-DFF0-4109-8274-33B1075DD199Q61828065-0837521B-3449-4427-8EBC-955F16AD09A3Q61978459-86396A31-86C3-404C-BC09-450B3F2CB719Q61978466-EBE807AF-8F44-4934-8412-817F7AAE62F6Q61978469-AF7E2B97-2C2F-44C4-9BCA-4664EE8BD3DFQ61978486-8E62B1BA-8FFD-4F03-B1C2-0F7AC4797AC1
P50
description
hulumtuese
@sq
onderzoeker
@nl
researcher
@en
հետազոտող
@hy
name
Silvia Bione
@ast
Silvia Bione
@en
Silvia Bione
@es
Silvia Bione
@fr
Silvia Bione
@nl
Silvia Bione
@sl
type
label
Silvia Bione
@ast
Silvia Bione
@en
Silvia Bione
@es
Silvia Bione
@fr
Silvia Bione
@nl
Silvia Bione
@sl
prefLabel
Silvia Bione
@ast
Silvia Bione
@en
Silvia Bione
@es
Silvia Bione
@fr
Silvia Bione
@nl
Silvia Bione
@sl
P106
P21
P31
P496
0000-0002-3924-4606