Search filters

List of works by Anna Maria Pinto

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

scientific article published on 3 August 2022

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

scientific article published on 17 July 2020

Alport syndrome: impact of digenic inheritance in patients management.

scientific article published on 8 November 2016

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

scientific article published on 19 July 2019

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

scientific article published in May 2007

CDKL5 mutations may mimic Pitt-Hopkins syndrome phenotype

scientific article published on 18 November 2020

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

scientific article

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

scientific article published on 12 March 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.

scientific article

Evidence of predisposing epimutation in retinoblastoma

scientific article published on 26 November 2018

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

scientific article published on 2 January 2016

Exploiting the potential of next-generation sequencing in genomic medicine

scientific article

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

scientific article

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

scientific article published on 24 April 2020

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

scientific article published on 20 February 2018

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

scientific article published on 21 November 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

scientific article

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

scientific article

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

scientific article

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

scientific article

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

scientific article

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

scientific article published on 2 October 2017

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

scientific article published on 2 November 2017

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

scientific article published on 01 March 2019

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

scientific article published on 04 May 2018

Paulina is supported by:

About Paulina

Help