Lista de obras - Annalisa Botta - Dominio Público Uruguay

A 14-Year Italian Experience in DM2 Genetic Testing: Frequency and Distribution of Normal and Premutated <i>CNBP</i> Alleles

artículo científico publicado en 2021

Aberrant splicing and expression of the non muscle myosin heavy-chain gene MYH14 in DM1 muscle tissues

article

Altered Ca2+ homeostasis and endoplasmic reticulum stress in myotonic dystrophy type 1 muscle cells.

artículo científico publicado en 2013

Carrier frequency of CFTR variants in the non-Caucasian populations by genome aggregation database (gnomAD)-based analysis

scientific article published on 02 June 2020

Causes of the phenotype–genotype dissociation in DiGeorge syndrome: clues from mouse models

artículo científico publicado en 2001

Characterization of <i>FMR1</i> Repeat Expansion and Intragenic Variants by Indirect Sequence Capture

artículo científico publicado en 2021

Characterization of a single nucleotide polymorphism in the ZNF9 gene and analysis of association with myotonic dystrophy type II (DM2) in the Italian population.

artículo científico publicado en 2004

Co-segregation of DM2 with a recessive CLCN1 mutation in juvenile onset of myotonic dystrophy type 2.

artículo científico publicado en 2012

Comparative mapping of the DiGeorge syndrome region in mouse shows inconsistent gene order and differential degree of gene conservation.

artículo científico publicado en 1997

Congenital heart disease in mice deficient for the DiGeorge syndrome region

artículo científico publicado en 1999

Effect of the [CCTG]n repeat expansion on ZNF9 expression in myotonic dystrophy type II (DM2).

artículo científico publicado en 2005

Epstein-Barr virus infection induces miR-21 in terminally differentiated malignant B cells

artículo científico publicado en 2015

Exclusion of the elastin gene in the pathogenesis of Costello syndrome

article

Expansion size and presence of CCG/CTC/CGG sequence interruptions in the expanded CTG array are independently associated to hypermethylation at the DMPK locus in myotonic dystrophy type 1 (DM1).

artículo científico publicado en 2015

Expression analysis and protein localization of the human HPC-1/syntaxin 1A, a gene deleted in Williams syndrome.

artículo científico publicado en 1999

Expression analysis of the gene encoding for the U-box-type ubiquitin ligase UBE4A in human tissues

artículo científico publicado en 2004

Functional characterization of the 5' flanking region of human ubiquitin fusion degradation 1 like gene (UFD1L).

artículo científico publicado en 2002

Gene expression analysis in myotonic dystrophy: indications for a common molecular pathogenic pathway in DM1 and DM2.

artículo científico publicado en 2007

Generation of Human Induced Pluripotent Stem Cells from Extraembryonic Tissues of Fetuses Affected by Monogenic Diseases.

artículo científico publicado en 2015

Genetic variability in noncoding RNAs: involvement of miRNAs and long noncoding RNAs in osteoporosis pathogenesis

artículo científico publicado en 2020

Normal myogenesis and increased apoptosis in myotonic dystrophy type-1 muscle cells

artículo científico publicado en 2010

Overexpression of CUGBP1 in skeletal muscle from adult classic myotonic dystrophy type 1 but not from myotonic dystrophy type 2.

artículo científico publicado en 2013

Overexpression of microRNA-206 in the skeletal muscle from myotonic dystrophy type 1 patients.

artículo científico publicado en 2010

Premature senescence in primary muscle cultures of myotonic dystrophy type 2 is not associated with p16 induction

artículo científico publicado en 2014

Progression of muscle histopathology but not of spliceopathy in myotonic dystrophy type 2.

artículo científico publicado en 2014

Ribonuclear inclusions and MBNL1 nuclear sequestration do not affect myoblast differentiation but alter gene splicing in myotonic dystrophy type 2.

artículo científico publicado en 2009

Risk prediction for clinical phenotype in myotonic dystrophy type 1: data from 2,650 patients

artículo científico publicado en 2007

SCN4A mutation as modifying factor of myotonic dystrophy type 2 phenotype

artículo científico publicado en 2015

Searching for Psoriasis Susceptibility Genes in Italy: Genome Scan and Evidence for a New Locus on Chromosome 1

article

Simultaneous detection of ΔF508, G542X, N1303K, G551D, and 1717-1G→A cystic fibrosis alleles by a multiplex DNA enzyme immunoassay

artículo científico publicado en 1995

The myotonic dystrophy type 2 (DM2) gene product zinc finger protein 9 (ZNF9) is associated with sarcomeres and normally localized in DM2 patients' muscles.

artículo científico publicado en 2009

Transmission ratio distortion in the spinal muscular atrophy locus: data from 314 prenatal tests.

artículo científico publicado en 2005

Two Different Therapeutic Approaches for SARS-CoV-2 in hiPSCs-Derived Lung Organoids

artículo científico publicado en 2022

Use of RNA Fluorescence In Situ Hybridization in the Prenatal Molecular Diagnosis of Myotonic Dystrophy Type I

scientific article published on 01 February 2006

Validation of sensitivity and specificity of tetraplet-primed PCR (TP-PCR) in the molecular diagnosis of myotonic dystrophy type 2 (DM2).

artículo científico publicado en 2010

Lista de obras de Annalisa Botta

A 14-Year Italian Experience in DM2 Genetic Testing: Frequency and Distribution of Normal and Premutated <i>CNBP</i> Alleles

Aberrant splicing and expression of the non muscle myosin heavy-chain gene MYH14 in DM1 muscle tissues

Altered Ca2+ homeostasis and endoplasmic reticulum stress in myotonic dystrophy type 1 muscle cells.

Carrier frequency of CFTR variants in the non-Caucasian populations by genome aggregation database (gnomAD)-based analysis

Causes of the phenotype–genotype dissociation in DiGeorge syndrome: clues from mouse models

Characterization of <i>FMR1</i> Repeat Expansion and Intragenic Variants by Indirect Sequence Capture

Characterization of a single nucleotide polymorphism in the ZNF9 gene and analysis of association with myotonic dystrophy type II (DM2) in the Italian population.

Co-segregation of DM2 with a recessive CLCN1 mutation in juvenile onset of myotonic dystrophy type 2.

Comparative mapping of the DiGeorge syndrome region in mouse shows inconsistent gene order and differential degree of gene conservation.

Congenital heart disease in mice deficient for the DiGeorge syndrome region

Effect of the [CCTG]n repeat expansion on ZNF9 expression in myotonic dystrophy type II (DM2).

Epstein-Barr virus infection induces miR-21 in terminally differentiated malignant B cells

Exclusion of the elastin gene in the pathogenesis of Costello syndrome

Expansion size and presence of CCG/CTC/CGG sequence interruptions in the expanded CTG array are independently associated to hypermethylation at the DMPK locus in myotonic dystrophy type 1 (DM1).

Expression analysis and protein localization of the human HPC-1/syntaxin 1A, a gene deleted in Williams syndrome.

Expression analysis of the gene encoding for the U-box-type ubiquitin ligase UBE4A in human tissues

Functional characterization of the 5' flanking region of human ubiquitin fusion degradation 1 like gene (UFD1L).

Gene expression analysis in myotonic dystrophy: indications for a common molecular pathogenic pathway in DM1 and DM2.

Generation of Human Induced Pluripotent Stem Cells from Extraembryonic Tissues of Fetuses Affected by Monogenic Diseases.

Genetic variability in noncoding RNAs: involvement of miRNAs and long noncoding RNAs in osteoporosis pathogenesis

Normal myogenesis and increased apoptosis in myotonic dystrophy type-1 muscle cells

Overexpression of CUGBP1 in skeletal muscle from adult classic myotonic dystrophy type 1 but not from myotonic dystrophy type 2.

Overexpression of microRNA-206 in the skeletal muscle from myotonic dystrophy type 1 patients.

Premature senescence in primary muscle cultures of myotonic dystrophy type 2 is not associated with p16 induction

Progression of muscle histopathology but not of spliceopathy in myotonic dystrophy type 2.

Ribonuclear inclusions and MBNL1 nuclear sequestration do not affect myoblast differentiation but alter gene splicing in myotonic dystrophy type 2.

Risk prediction for clinical phenotype in myotonic dystrophy type 1: data from 2,650 patients

SCN4A mutation as modifying factor of myotonic dystrophy type 2 phenotype

Searching for Psoriasis Susceptibility Genes in Italy: Genome Scan and Evidence for a New Locus on Chromosome 1

Simultaneous detection of ΔF508, G542X, N1303K, G551D, and 1717-1G→A cystic fibrosis alleles by a multiplex DNA enzyme immunoassay

The myotonic dystrophy type 2 (DM2) gene product zinc finger protein 9 (ZNF9) is associated with sarcomeres and normally localized in DM2 patients' muscles.

Transmission ratio distortion in the spinal muscular atrophy locus: data from 314 prenatal tests.

Two Different Therapeutic Approaches for SARS-CoV-2 in hiPSCs-Derived Lung Organoids

Use of RNA Fluorescence In Situ Hybridization in the Prenatal Molecular Diagnosis of Myotonic Dystrophy Type I

Validation of sensitivity and specificity of tetraplet-primed PCR (TP-PCR) in the molecular diagnosis of myotonic dystrophy type 2 (DM2).