A. de Becdelièvre

发表

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

A. Kitzis, E. Girodon, T. Bienvenu, 2012, Human mutation.

Variable Expression of Lung Disease Due to a Novel Homozygous ABCA3 Variant.

R. Epaud, S. Ben Ameur, K. Boussetta, 2022, Pediatric allergy, immunology, and pulmonology.

Instability of Mature ABCA3 Protein: Toward a New Classification of ABCA3 Mutations?

S. Simon, R. Epaud, B. Duriez, 2022, American journal of respiratory cell and molecular biology.

Interstitial lung disease reveals 48,XXYY syndrome in a child

R. Epaud, B. Funalot, A. Aissat, 2019, Acta paediatrica.

Heterogeneity of lung disease associated with NK2 homeobox 1 mutations.

R. Epaud, R. Borie, E. Bosdure, 2017, Respiratory medicine.

Amniotic fluid digestive enzyme analysis is useful for identifying CFTR gene mutations of unclear significance.

B. Gérard, E. Girodon, F. Oca, 2009, Clinical chemistry.

Prenatal Ultrasound Suspicion of Cystic Fibrosis in a Multiethnic Population: Is Extensive CFTR Genotyping Needed?

B. Funalot, S. Whalen, V. Mirlesse, 2021, Genes.

Bethlem Myopathy Phenotypes and Follow Up: Description of 8 Patients at the Mildest End of the Spectrum.

I. Illa, E. Gallardo, J. Díaz-Manera, 2016, Journal of neuromuscular diseases.

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

I. Nelson, R. Carlier, P. Carlier, 2014, Journal of Neurology, Neurosurgery & Psychiatry.

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

M. Claustres, R. Epaud, E. Girodon, 2011, Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society.

Correlation between PABPN1 genotype and disease severity in oculopharyngeal muscular dystrophy

J. Pouget, B. Eymard, T. Stojkovic, 2017, Neurology.

COMMD1-Mediated Ubiquitination Regulates CFTR Trafficking

M. Goossens, N. Arous, A. Hinzpeter, 2011, PloS one.

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

L. Defebvre, A. Destée, M. Lemaître, 2006, Movement disorders : official journal of the Movement Disorder Society.

Alternative Splicing at a NAGNAG Acceptor Site as a Novel Phenotype Modifier

Bruno Costes, E. Girodon, M. Goossens, 2010, PLoS genetics.

Deciphering an isolated lung phenotype of NKX2-1 frameshift pathogenic variant

S. Simon, R. Epaud, X. Decrouy, 2023, Frontiers in Pediatrics.

COMMD1 modulates noxious inflammation in cystic fibrosis.

S. Moutéreau, A. Hinzpeter, S. le Gouvello, 2013, The international journal of biochemistry & cell biology.

Alternative Splicing of In‐Frame Exon Associated with Premature Termination Codons: Implications for Readthrough Therapies

L. Galietta, E. Girodon, E. Bieth, 2013, Human mutation.

CFTR p.Arg117His associated with CBAVD and other CFTR-related disorders

A. Valéri, C. Clavel, G. Karsenty, 2013, Journal of Medical Genetics.

SCN10A variants associated with congenital harlequin syndrome

F. Boralevi, B. Funalot, C. Labrèze, 2022, The British journal of dermatology.

Inherited pulmonary surfactant metabolism disorders in Argentina: Differences between patients with SFTPC and ABCA3 variants

R. Epaud, A. Teper, A. Maffey, 2022, Pediatric pulmonology.

Clinical and Molecular Spectrum Associated with COL6A3 c.7447A>G p.(Lys2483Glu) Variant: Elucidating its Role in Collagen VI-related Myopathies.

C. Bönnemann, B. Eymard, T. Stojkovic, 2021, Journal of neuromuscular diseases.

Hereditary sensory autonomic neuropathy type II: Report of two novel mutations in the FAM134B gene

M. Vidailhet, A. Toutain, T. Stojkovic, 2019, Journal of the peripheral nervous system : JPNS.

Congenital surfactant protein B (SP-B) deficiency: a case report

M. Romdhane, K. Boussetta, F. Khalsi, 2023, The Pan African Medical Journal.

AQP5, a second gene at play with CFTR in aquagenic palmoplantar keratoderma

P. Burgel, I. Fajac, M. Audrézet, 2023, Journal of the European Academy of Dermatology and Venereology.

Structure-Based Understanding of ABCA3 Variants

I. Callebaut, P. Fanen, A. de Becdelièvre, 2021, International journal of molecular sciences.

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

R. Epaud, A. Miqdad, Humariya Heena, 2017, Annals of thoracic medicine.

Idiopathic pulmonary fibrosis with benign SFTPC variant and pathogenic MARS1 mutations: can't see the forest for the trees!

R. Epaud, C. Delestrain, R. Diesler, 2023, ERJ Open Research.