Lista de obras - Anna Maria Pinto - Dominio Público Uruguay

A first update on mapping the human genetic architecture of COVID-19

artículo científico publicado en 2022

ACE2 gene variants may underlie interindividual variability and susceptibility to COVID-19 in the Italian population

artículo científico publicado en 2020

Alport syndrome: impact of digenic inheritance in patients management.

artículo científico publicado en 2016

Altered expression of RXFP1 receptor contributes to the inefficacy of relaxin-based anti-fibrotic treatments in systemic sclerosis

artículo científico publicado en 2019

Arg16gly Polymorphism of the beta2-Adrenoceptor Gene (ADRBeta2) as a Susceptibility Factor for Nasal Polyposis

artículo científico publicado en 2007

CDKL5 mutations may mimic Pitt-Hopkins syndrome phenotype

artículo científico publicado en 2020

Combined ultrasound and exome sequencing approach recognizes Opitz G/BBB syndrome in two malformed fetuses

artículo científico publicado en 2016

Compound heterozygous missense and deep intronic variants in NDUFAF6 unraveled by exome sequencing and mRNA analysis.

artículo científico publicado en 2018

Detection of Cryptic Mosaicism in X-linked Alport Syndrome Prompts to Reevaluate Living-donor Kidney Transplantation

scientific article published on 31 December 2019

Dysregulation of synaptogenesis genes antecedes motor neuron pathology in spinal muscular atrophy.

artículo científico publicado en 2013

Evidence of predisposing epimutation in retinoblastoma

artículo científico publicado en 2018

Exome sequencing analysis in a pair of monozygotic twins re-evaluates the genetics behind their intellectual disability and reveals a CHD2 mutation

artículo científico publicado en 2016

Exploiting the potential of next-generation sequencing in genomic medicine

artículo científico publicado en 2016

High frequency of mosaic CREBBP deletions in Rubinstein-Taybi syndrome patients and mapping of somatic and germ-line breakpoints

artículo científico publicado en 2007

High rate of HDR in gene editing of p.(Thr158Met) MECP2 mutational hotspot

artículo científico publicado en 2020

Low-level TP53 mutational load antecedes clonal expansion in chronic lymphocytic leukaemia

artículo científico publicado en 2018

New frontiers to cure Alport syndrome: COL4A3 and COL4A5 gene editing in podocyte-lineage cells

artículo científico publicado en 2019

Parent-of-origin effect of hypomorphic pathogenic variants and somatic mosaicism impact on phenotypic expression of retinoblastoma

Phenylbutyrate increases SMN gene expression in spinal muscular atrophy patients

artículo científico publicado en 2005

Respiratory failure in infants due to spinal muscular atrophy with respiratory distress type 1.

artículo científico publicado en 2006

SMN transcript levels in leukocytes of SMA patients determined by absolute real-time PCR

artículo científico publicado en 2010

Salbutamol increases survival motor neuron (SMN) transcript levels in leucocytes of spinal muscular atrophy (SMA) patients: relevance for clinical trial design

artículo científico publicado en 2010

Sporadic hereditary motor and sensory neuropathies: Advances in the diagnosis using next generation sequencing technology

scientific article published on 09 October 2015

U1 snRNP determines mRNA length and regulates isoform expression

artículo científico publicado en 2012

U1 snRNP telescripting regulates a size-function-stratified human genome.

artículo científico publicado en 2017

Urine-derived podocytes-lineage cells: A promising tool for precision medicine in Alport Syndrome

artículo científico publicado en 2017

Usefulness and Limitations of Comprehensive Characterization of mRNA Splicing Profiles in the Definition of the Clinical Relevance of Variants of Uncertain Significance

artículo científico publicado en 2019

iPSC-derived neurons profiling reveals GABAergic circuit disruption and acetylated α-tubulin defect which improves after iHDAC6 treatment in Rett syndrome

artículo científico publicado en 2018

Lista de obras de Anna Maria Pinto

A first update on mapping the human genetic architecture of COVID-19

ACE2 gene variants may underlie interindividual variability and susceptibility to COVID-19 in the Italian population

Alport syndrome: impact of digenic inheritance in patients management.

Altered expression of RXFP1 receptor contributes to the inefficacy of relaxin-based anti-fibrotic treatments in systemic sclerosis

Arg16gly Polymorphism of the beta2-Adrenoceptor Gene (ADRBeta2) as a Susceptibility Factor for Nasal Polyposis

CDKL5 mutations may mimic Pitt-Hopkins syndrome phenotype

Combined ultrasound and exome sequencing approach recognizes Opitz G/BBB syndrome in two malformed fetuses

Compound heterozygous missense and deep intronic variants in NDUFAF6 unraveled by exome sequencing and mRNA analysis.

Detection of Cryptic Mosaicism in X-linked Alport Syndrome Prompts to Reevaluate Living-donor Kidney Transplantation

Dysregulation of synaptogenesis genes antecedes motor neuron pathology in spinal muscular atrophy.

Evidence of predisposing epimutation in retinoblastoma

Exome sequencing analysis in a pair of monozygotic twins re-evaluates the genetics behind their intellectual disability and reveals a CHD2 mutation

Exploiting the potential of next-generation sequencing in genomic medicine

High frequency of mosaic CREBBP deletions in Rubinstein-Taybi syndrome patients and mapping of somatic and germ-line breakpoints

High rate of HDR in gene editing of p.(Thr158Met) MECP2 mutational hotspot

Low-level TP53 mutational load antecedes clonal expansion in chronic lymphocytic leukaemia

New frontiers to cure Alport syndrome: COL4A3 and COL4A5 gene editing in podocyte-lineage cells

Parent-of-origin effect of hypomorphic pathogenic variants and somatic mosaicism impact on phenotypic expression of retinoblastoma

Phenylbutyrate increases SMN gene expression in spinal muscular atrophy patients

Respiratory failure in infants due to spinal muscular atrophy with respiratory distress type 1.

SMN transcript levels in leukocytes of SMA patients determined by absolute real-time PCR

Salbutamol increases survival motor neuron (SMN) transcript levels in leucocytes of spinal muscular atrophy (SMA) patients: relevance for clinical trial design

Sporadic hereditary motor and sensory neuropathies: Advances in the diagnosis using next generation sequencing technology

U1 snRNP determines mRNA length and regulates isoform expression

U1 snRNP telescripting regulates a size-function-stratified human genome.

Urine-derived podocytes-lineage cells: A promising tool for precision medicine in Alport Syndrome

Usefulness and Limitations of Comprehensive Characterization of mRNA Splicing Profiles in the Definition of the Clinical Relevance of Variants of Uncertain Significance

iPSC-derived neurons profiling reveals GABAergic circuit disruption and acetylated α-tubulin defect which improves after iHDAC6 treatment in Rett syndrome