Lista de obras -

A recurrent deep-intronic splicing CF mutation emphasizes the importance of mRNA studies in clinical practice

scientific article published on 23 July 2011

Alternative splicing of in-frame exon associated with premature termination codons: implications for readthrough therapies.

artículo científico publicado en 2012

Bethlem myopathy: long-term follow-up identifies COL6 mutations predicting severe clinical evolution

artículo científico publicado en 2014

CFTR mutation combinations producing frequent complex alleles with different clinical and functional outcomes.

artículo científico publicado en 2012

COMMD1 modulates noxious inflammation in cystic fibrosis.

artículo científico publicado en 2013

COMMD1-mediated ubiquitination regulates CFTR trafficking.

artículo científico publicado en 2011

Combined computational-experimental analyses of CFTR exon strength uncover predictability of exon-skipping level.

artículo científico publicado en 2013

Comprehensive description of CFTR genotypes and ultrasound patterns in 694 cases of fetal bowel anomalies: a revised strategy

scientific article published on 24 December 2010

Diaphragmatic dysfunction in Collagen VI myopathies.

artículo científico publicado en 2013

Heterogeneity of lung disease associated with NK2 homeobox 1 mutations.

artículo científico publicado en 2017

Identification of a novel 5' alternative CFTR mRNA isoform in a patient with nasal polyposis and CFTR mutations

scientific article published on 09 April 2014

Mosaicism for dominant collagen 6 mutations as a cause for intrafamilial phenotypic variability

artículo científico publicado en 2015

New syndromic form of benign hereditary chorea is associated with a deletion of TITF-1 and PAX-9 contiguous genes

artículo científico publicado en 2006

Relationship of non-visualization of the fetal gallbladder and amniotic fluid digestive enzymes analysis to outcome

artículo científico publicado en 2012

Slowly progressive spinocerebellar ataxia with extrapyramidal signs and mild cognitive impairment (SCA21)

artículo científico publicado en 2008

The most frequent ABCA3 nonsense mutation -p.Tyr1515* (Y1515X) causing lethal neonatal respiratory failure in a term neonate.

artículo científico publicado en 2017

Lista de obras de

A recurrent deep-intronic splicing CF mutation emphasizes the importance of mRNA studies in clinical practice

Alternative splicing of in-frame exon associated with premature termination codons: implications for readthrough therapies.

Bethlem myopathy: long-term follow-up identifies COL6 mutations predicting severe clinical evolution

CFTR mutation combinations producing frequent complex alleles with different clinical and functional outcomes.

COMMD1 modulates noxious inflammation in cystic fibrosis.

COMMD1-mediated ubiquitination regulates CFTR trafficking.

Combined computational-experimental analyses of CFTR exon strength uncover predictability of exon-skipping level.

Comprehensive description of CFTR genotypes and ultrasound patterns in 694 cases of fetal bowel anomalies: a revised strategy

Diaphragmatic dysfunction in Collagen VI myopathies.

Heterogeneity of lung disease associated with NK2 homeobox 1 mutations.

Identification of a novel 5' alternative CFTR mRNA isoform in a patient with nasal polyposis and CFTR mutations

Mosaicism for dominant collagen 6 mutations as a cause for intrafamilial phenotypic variability

New syndromic form of benign hereditary chorea is associated with a deletion of TITF-1 and PAX-9 contiguous genes

Relationship of non-visualization of the fetal gallbladder and amniotic fluid digestive enzymes analysis to outcome

Slowly progressive spinocerebellar ataxia with extrapyramidal signs and mild cognitive impairment (SCA21)

The most frequent ABCA3 nonsense mutation -p.Tyr1515* (Y1515X) causing lethal neonatal respiratory failure in a term neonate.