Lista de obras - Silvia Bione - Dominio Público Uruguay

A comparative transcriptional map of a region of 250 kb on the human and mouse X chromosome between the G6PD and the FLN1 genes

artículo científico publicado en 1995

A family of transmembrane proteins with homology to the MET-hepatocyte growth factor receptor

artículo científico publicado en 1996

A large-scale association study to assess the impact of known variants of the human INHA gene on premature ovarian failure

artículo científico publicado en 2009

A mutation in the X-linked Emery–Dreifuss muscular dystrophy gene in a patient affected with conduction cardiomyopathy

artículo científico publicado en 2001

A novel X-linked gene, G4.5. is responsible for Barth syndrome

artículo científico publicado en 1996

A susceptibility gene for premature ovarian failure (POF) maps to proximal Xq28

artículo científico publicado en 2004

Alterations in the expression, structure and function of progesterone receptor membrane component-1 (PGRMC1) in premature ovarian failure

scientific article published on 09 September 2008

An Association Rule Mining Approach to Discover lncRNAs Expression Patterns in Cancer Datasets

artículo científico publicado en 2015

Are myocardial infarction--associated single-nucleotide polymorphisms associated with ischemic stroke?

artículo científico publicado en 2012

BMP15 mutations associated with primary ovarian insufficiency cause a defective production of bioactive protein

artículo científico publicado en 2009

Characterization of the biological processes shaping the genetic structure of the Italian population

artículo científico publicado en 2015

CorrelaGenes: a new tool for the interpretation of the human transcriptome

artículo científico publicado en 2014

Cross-analysis of gene and miRNA genome-wide expression profiles in human fibroblasts at different stages of transformation

artículo científico publicado en 2012

Different mutations in the LMNA gene cause autosomal dominant and autosomal recessive Emery-Dreifuss muscular dystrophy.

artículo científico publicado en 2000

Epigenetic control of the critical region for premature ovarian failure on autosomal genes translocated to the X chromosome: a hypothesis.

artículo científico publicado en 2007

Heritability and demographic analyses in the large isolated population of Val Borbera suggest advantages in mapping complex traits genes

artículo científico publicado en 2009

Heritability of young- and old-onset ischaemic stroke.

artículo científico publicado en 2015

Heterogeneous molecular mechanisms underlie attenuated familial adenomatous polyposis

artículo científico publicado en 2007

Highly conserved non-coding sequences and the 18q critical region for short stature: a common mechanism of disease?

artículo científico publicado en 2008

Identification of a novel X-linked gene responsible for Emery-Dreifuss muscular dystrophy

artículo científico publicado en 1994

Identification of new mutations in the Emery-Dreifuss muscular dystrophy gene and evidence for genetic heterogeneity of the disease

artículo científico publicado en 1995

Influence of intermediate and uninterrupted FMR1 CGG expansions in premature ovarian failure manifestation.

artículo científico publicado en 2005

Isolation of new genes in distal Xq28: transcriptional map and identification of a human homologue of the ARD1 N-acetyl transferase of Saccharomyces cerevisiae

artículo científico publicado en 1994

Methylation and sequence analysis around EagI sites: identification of 28 new CpG islands in XQ24-XQ28.

artículo científico publicado en 1992

Mutation analysis of two candidate genes for premature ovarian failure, DACH2 and POF1B.

artículo científico publicado en 2004

Sequence and gene content in 52 kb including and centromeric to the G6PD gene in Xq28

artículo científico publicado en 1995

Sequence variation at the human FOXO3 locus: a study of premature ovarian failure and primary amenorrhea

artículo científico publicado en 2007

Skewed X-chromosome inactivation is not associated with premature ovarian failure in a large cohort of Italian patients

article

Spatial and temporal expression of POF1B, a gene expressed in epithelia

scientific journal article

TERRA transcription destabilizes telomere integrity to initiate break-induced replication in human ALT cells

artículo científico publicado en 2021

The X-linked gene G4.5 is responsible for different infantile dilated cardiomyopathies.

artículo científico publicado en 1997

Unusual expression of emerin in a patient with X-linked Emery–Dreifuss muscular dystrophy

scientific article published on 01 December 2000

Variation of hemoglobin levels in normal Italian populations from genetic isolates

article

X chromosome genes and premature ovarian failure

artículo científico publicado en 2000

Lista de obras de Silvia Bione

A comparative transcriptional map of a region of 250 kb on the human and mouse X chromosome between the G6PD and the FLN1 genes

A family of transmembrane proteins with homology to the MET-hepatocyte growth factor receptor

A large-scale association study to assess the impact of known variants of the human INHA gene on premature ovarian failure

A mutation in the X-linked Emery–Dreifuss muscular dystrophy gene in a patient affected with conduction cardiomyopathy

A novel X-linked gene, G4.5. is responsible for Barth syndrome

A susceptibility gene for premature ovarian failure (POF) maps to proximal Xq28

Alterations in the expression, structure and function of progesterone receptor membrane component-1 (PGRMC1) in premature ovarian failure

An Association Rule Mining Approach to Discover lncRNAs Expression Patterns in Cancer Datasets

Are myocardial infarction--associated single-nucleotide polymorphisms associated with ischemic stroke?

BMP15 mutations associated with primary ovarian insufficiency cause a defective production of bioactive protein

Characterization of the biological processes shaping the genetic structure of the Italian population

CorrelaGenes: a new tool for the interpretation of the human transcriptome

Cross-analysis of gene and miRNA genome-wide expression profiles in human fibroblasts at different stages of transformation

Different mutations in the LMNA gene cause autosomal dominant and autosomal recessive Emery-Dreifuss muscular dystrophy.

Epigenetic control of the critical region for premature ovarian failure on autosomal genes translocated to the X chromosome: a hypothesis.

Heritability and demographic analyses in the large isolated population of Val Borbera suggest advantages in mapping complex traits genes

Heritability of young- and old-onset ischaemic stroke.

Heterogeneous molecular mechanisms underlie attenuated familial adenomatous polyposis

Highly conserved non-coding sequences and the 18q critical region for short stature: a common mechanism of disease?

Identification of a novel X-linked gene responsible for Emery-Dreifuss muscular dystrophy

Identification of new mutations in the Emery-Dreifuss muscular dystrophy gene and evidence for genetic heterogeneity of the disease

Influence of intermediate and uninterrupted FMR1 CGG expansions in premature ovarian failure manifestation.

Isolation of new genes in distal Xq28: transcriptional map and identification of a human homologue of the ARD1 N-acetyl transferase of Saccharomyces cerevisiae

Methylation and sequence analysis around EagI sites: identification of 28 new CpG islands in XQ24-XQ28.

Mutation analysis of two candidate genes for premature ovarian failure, DACH2 and POF1B.

Sequence and gene content in 52 kb including and centromeric to the G6PD gene in Xq28

Sequence variation at the human FOXO3 locus: a study of premature ovarian failure and primary amenorrhea

Skewed X-chromosome inactivation is not associated with premature ovarian failure in a large cohort of Italian patients

Spatial and temporal expression of POF1B, a gene expressed in epithelia

TERRA transcription destabilizes telomere integrity to initiate break-induced replication in human ALT cells

The X-linked gene G4.5 is responsible for different infantile dilated cardiomyopathies.

Unusual expression of emerin in a patient with X-linked Emery–Dreifuss muscular dystrophy

Variation of hemoglobin levels in normal Italian populations from genetic isolates

X chromosome genes and premature ovarian failure

X-linked emery-dreifuss muscular dystrophy can be diagnosed from skin biopsy or blood sample