Structure-Based Understanding of ABCA3 Variants

por Onnée, Marion, Fanen, Pascale, Callebaut, Isabelle, de Becdelièvre, Alix
Publicado 2021

Difficulties in the treatment of an infant survivor with inherited surfactant protein-B deficiency in Tunisia

por Hamouda, Samia, Trabelsi, Ines, de Becdelièvre, Alix, Boussetta, Khadija
Publicado 2022

Correlation between PABPN1 genotype and disease severity in oculopharyngeal muscular dystrophy

por Richard, Pascale, Trollet, Capucine, Stojkovic, Tanya, de Becdelievre, Alix, Perie, Sophie, Pouget, Jean, Eymard, Bruno
Publicado 2017

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

por Khalsi, Fatma, Chaabene, Maha, Romdhane, Manel Ben, Trabelsi, Ines, Hamouda, Samia, de Becdelièvre, Alix, Boussetta, Khedija
Publicado 2023

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

por AlAnazi, AlNashmi, Epaud, Ralph, Heena, Humariya, de becdelievre, Alix, Miqdad, Abeer Mohammad, Fanen, Pascale
Publicado 2017

COMMD1-Mediated Ubiquitination Regulates CFTR Trafficking

por Drévillon, Loïc, Tanguy, Gaëlle, Hinzpeter, Alexandre, Arous, Nicole, de Becdelièvre, Alix, Aissat, Abdel, Tarze, Agathe, Goossens, Michel, Fanen, Pascale
Publicado 2011

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

por Delestrain, Céline, Aissat, Abdel, Nattes, Elodie, Gibertini, Isabelle, Lacroze, Valérie, Simon, Stéphanie, Decrouy, Xavier, de Becdelièvre, Alix, Fanen, Pascale, Epaud, Ralph
Publicado 2023

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

por Castaldo, Alice, Delestrain, Celine, Diesler, Rémi, Merveilleux du Vignaux, Claire, Onnee, Marion, Touraine, Renaud, Chalabreysse, Lara, Fanen, Pascale, Epaud, Ralph, Cottin, Vincent, De Becdelièvre, Alix
Publicado 2023

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

por Mekki, Chadia, Aissat, Abdel, Mirlesse, Véronique, Mayer Lacrosniere, Sophie, Eche, Elsa, Le Floch, Annick, Whalen, Sandra, Prud’Homme, Cecile, Remus, Christelle, Funalot, Benoit, Castaigne, Vanina, Fanen, Pascale, de Becdelièvre, Alix
Publicado 2021

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

por Hinzpeter, Alexandre, Aissat, Abdel, Sondo, Elvira, Costa, Catherine, Arous, Nicole, Gameiro, Christine, Martin, Natacha, Tarze, Agathe, Weiss, Laurence, de Becdelièvre, Alix, Costes, Bruno, Goossens, Michel, Galietta, Luis J., Girodon, Emmanuelle, Fanen, Pascale
Publicado 2010