List of works - Lorenzo Ferri

Aminoacylase I deficiency due to ACY1 mRNA exon skipping.

scientific article

Application of multiplex single nucleotide primer extension (mSNuPE) to the identification of bacteria: the Burkholderia cepacia complex case

scientific article published on 14 January 2010

Cell Cycle Control by the Master Regulator CtrA in Sinorhizobium meliloti.

scientific article published on 15 May 2015

De novo Diagnosis of Fabry Disease among Italian Adults with Acute Ischemic Stroke or Transient Ischemic Attack

scientific article published on 19 August 2015

Fabry disease: polymorphic haplotypes and a novel missense mutation in the GLA gene.

scientific article published on 25 May 2011

GM1 gangliosidosis and Morquio B disease: an update on genetic alterations and clinical findings

scientific article published on 7 April 2011

Integration of PCR-Sequencing Analysis with Multiplex Ligation-Dependent Probe Amplification for Diagnosis of Hereditary Fructose Intolerance.

scientific article published on 24 February 2012

Intra-individual plasticity of the TAZ gene leading to different heritable mutations in siblings with Barth syndrome

scientific article published on 18 March 2015

Medium-chain acyl-CoA deficiency: outlines from newborn screening, in silico predictions, and molecular studies.

scientific article published on 31 October 2013

New clinical and molecular insights on Barth syndrome

scientific article published on 14 February 2013

Optimizing the molecular diagnosis of GALNS: novel methods to define and characterize Morquio-A syndrome-associated mutations

scientific article

Pitfalls in the detection of gross gene rearrangements using MLPA in Fabry disease.

scientific article published on 31 October 2015

Plasmid electroporation of Sinorhizobium strains: The role of the restriction gene hsdR in type strain Rm1021

article

The diversity and evolution of cell cycle regulation in alpha-proteobacteria: a comparative genomic analysis

scientific article

The impact of fever/hyperthermia in the diagnosis of Fabry: A retrospective analysis.

scientific article

Use of the gyrB gene to discriminate among species of the Burkholderia cepacia complex

scientific article published on 27 February 2008

When silence is noise: infantile-onset Barth syndrome caused by a synonymous substitution affecting TAZ gene transcription

scientific article published on 8 February 2016

List of works by Lorenzo Ferri

Aminoacylase I deficiency due to ACY1 mRNA exon skipping.

Application of multiplex single nucleotide primer extension (mSNuPE) to the identification of bacteria: the Burkholderia cepacia complex case

Cell Cycle Control by the Master Regulator CtrA in Sinorhizobium meliloti.

De novo Diagnosis of Fabry Disease among Italian Adults with Acute Ischemic Stroke or Transient Ischemic Attack

Fabry disease: polymorphic haplotypes and a novel missense mutation in the GLA gene.

GM1 gangliosidosis and Morquio B disease: an update on genetic alterations and clinical findings

Integration of PCR-Sequencing Analysis with Multiplex Ligation-Dependent Probe Amplification for Diagnosis of Hereditary Fructose Intolerance.

Intra-individual plasticity of the TAZ gene leading to different heritable mutations in siblings with Barth syndrome

Medium-chain acyl-CoA deficiency: outlines from newborn screening, in silico predictions, and molecular studies.

New clinical and molecular insights on Barth syndrome

Optimizing the molecular diagnosis of GALNS: novel methods to define and characterize Morquio-A syndrome-associated mutations

Pitfalls in the detection of gross gene rearrangements using MLPA in Fabry disease.

Plasmid electroporation of Sinorhizobium strains: The role of the restriction gene hsdR in type strain Rm1021

The diversity and evolution of cell cycle regulation in alpha-proteobacteria: a comparative genomic analysis

The impact of fever/hyperthermia in the diagnosis of Fabry: A retrospective analysis.

Use of the gyrB gene to discriminate among species of the Burkholderia cepacia complex

When silence is noise: infantile-onset Barth syndrome caused by a synonymous substitution affecting TAZ gene transcription