List of works - Paola Carrera

A child with severe pneumomediastinum and ABCA3 gene mutation: a puzzling connection

scientific article published on 2 February 2012

A new mutation in the MEN1 gene

article

A nonsense mutation (Gln-673-Term) in exon 17 of the human dystrophin gene detected by heteroduplex analysis

article

A novel heat shock protein 27 homozygous mutation: widening of the continuum between MND/dHMN/CMT2.

scientific article published in December 2015

Amplification Refractory Mutation System Analysis of Point Mutations by Capillary Electrophoresis

scientific article published on 01 January 2001

CAG triplet analysis in families with androgen insensitivity syndrome by capillary electrophoresis in polymer networks ⬇️

scientific article published on 01 July 1995

Capturing all disease-causing mutations for clinical and research use: toward an effortless system for the Human Variome Project

scientific article

Clinical features and outcomes of the flail arm and flail leg and pure lower motor neuron MND variants: a multicentre Italian study

scientific article published on 10 July 2020

Concurrence of NMOSD and ALS in a patient with hexanucleotide repeat expansions of C9orf72

scientific article published on 22 April 2019

Effect of genotypic resistance on the virological response to highly active antiretroviral therapy in cerebrospinal fluid

scientific article published in March 2001

Exome sequencing and pathway analysis for identification of genetic variability relevant for bronchopulmonary dysplasia (BPD) in preterm newborns: A pilot study

scientific article published on 8 January 2015

Expanding the spectrum of genes responsible for hereditary motor neuropathies

scientific article published on 05 June 2019

Failure to detect Glut4-Ile383 and IR-Gln1152 variants in NIDDM (non-insulin dependent diabetes mellitus) and control subjects in an Italian population

article

Familial hemiplegic migraine: a ion channel disorder

scientific article

Long-term virological effect of highly active antiretroviral therapy on cerebrospinal fluid and relationship with genotypic resistance

scientific article published on 01 January 2004

New trend in non-invasive prenatal diagnosis

scientific article published on 23 December 2014

Newly characterised 5' and 3' regions of CACNA1A gene harbour mutations associated with Familial Hemiplegic Migraine and Episodic Ataxia

scientific article

Null ABCA3 in humans: large homozygous ABCA3 deletion, correlation to clinical-pathological findings

scientific article

Optimized Detection of DNA Point Mutations by Double Gradient Denaturing Gradient Gel

scientific article published on 01 December 1998

Planning the human variome project: the Spain report.

scientific article published in April 2009

Sister chromatid exchanges in first-trimester chorionic villi afterin vivo andin vitro exposure to diagnostic ultrasound

scientific article published on 01 March 1990

Structural and functional brain signatures of C9orf72 in motor neuron disease

scientific article published on 6 June 2017

Surfactant proteins gene variants in premature newborn infants with severe respiratory distress syndrome

scientific article published on 19 December 2017

Unusual early recurrence of granular dystrophy after deep anterior lamellar keratoplasty: case report

scientific article

List of works by Paola Carrera

A child with severe pneumomediastinum and ABCA3 gene mutation: a puzzling connection

A new mutation in the MEN1 gene

A nonsense mutation (Gln-673-Term) in exon 17 of the human dystrophin gene detected by heteroduplex analysis

A novel heat shock protein 27 homozygous mutation: widening of the continuum between MND/dHMN/CMT2.

Amplification Refractory Mutation System Analysis of Point Mutations by Capillary Electrophoresis

CAG triplet analysis in families with androgen insensitivity syndrome by capillary electrophoresis in polymer networks ⬇️

Capturing all disease-causing mutations for clinical and research use: toward an effortless system for the Human Variome Project

Clinical features and outcomes of the flail arm and flail leg and pure lower motor neuron MND variants: a multicentre Italian study

Concurrence of NMOSD and ALS in a patient with hexanucleotide repeat expansions of C9orf72

Effect of genotypic resistance on the virological response to highly active antiretroviral therapy in cerebrospinal fluid

Exome sequencing and pathway analysis for identification of genetic variability relevant for bronchopulmonary dysplasia (BPD) in preterm newborns: A pilot study

Expanding the spectrum of genes responsible for hereditary motor neuropathies

Failure to detect Glut4-Ile383 and IR-Gln1152 variants in NIDDM (non-insulin dependent diabetes mellitus) and control subjects in an Italian population

Familial hemiplegic migraine: a ion channel disorder

Long-term virological effect of highly active antiretroviral therapy on cerebrospinal fluid and relationship with genotypic resistance

Long-term virological effect of highly active antiretroviral therapy on cerebrospinal fluid and relationship with genotypic resistance

Long-term virological effect of highly active antiretroviral therapy on cerebrospinal fluid and relationship with genotypic resistance

New trend in non-invasive prenatal diagnosis

Newly characterised 5' and 3' regions of CACNA1A gene harbour mutations associated with Familial Hemiplegic Migraine and Episodic Ataxia

Null ABCA3 in humans: large homozygous ABCA3 deletion, correlation to clinical-pathological findings

Optimized Detection of DNA Point Mutations by Double Gradient Denaturing Gradient Gel

Planning the human variome project: the Spain report.

Sister chromatid exchanges in first-trimester chorionic villi afterin vivo andin vitro exposure to diagnostic ultrasound

Structural and functional brain signatures of C9orf72 in motor neuron disease

Surfactant proteins gene variants in premature newborn infants with severe respiratory distress syndrome

Unusual early recurrence of granular dystrophy after deep anterior lamellar keratoplasty: case report