1. Bi-allelic missense ABCA3 mutations in a patient with childhood ILD who reached adulthood. Issue 3 (22nd July 2019) Authors: Manali, Effrosyni D.; Legendre, Marie; Nathan, Nadia; Kannengiesser, Caroline; Coulomb-L'Hermine, Aurore; Tsiligiannis, Theofanis; Tomos, Pericles; Griese, Matthias; Borie, Raphael; Clement, Annick; Amselem, Serge; Crestani, Bruno; Papiris, Spyros A. Journal: ERJ open research Issue: Volume 5:Issue 3(2019) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Breath‐holding and tidal breathing nasal NO to screen children for Primary Ciliary Dyskinesia. Issue 7 (26th April 2021) Authors: Beydon, Nicole; Tamalet, Aline; Escudier, Estelle; Legendre, Marie; Thouvenin, Guillaume Journal: Pediatric pulmonology Issue: Volume 56:Issue 7(2021) Page Start: 2242 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Contribution of functionally assessed GHRHR mutations to idiopathic isolated growth hormone deficiency in patients without GH1 mutations. Issue 11 (6th August 2019) Authors: Cohen, Enzo; Belkacem, Sabrina; Fedala, Soumeya; Collot, Nathalie; Khallouf, Eliane; Dastot, Florence; Polak, Michel; Duquesnoy, Philippe; Brioude, Frederic; Rose, Sophie; Viot, Géraldine; Soleyan, Aude; Carel, Jean‐Claude; Sobrier, Marie‐Laure; Chanson, Philippe; Gatelais, Frédérique; Heinrichs,... Journal: Human mutation Issue: Volume 40:Issue 11(2019) Page Start: 2033 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Deep phenotyping, including quantitative ciliary beating parameters, and extensive genotyping in primary ciliary dyskinesia. Issue 4 (26th November 2019) Authors: Blanchon, Sylvain; Legendre, Marie; Bottier, Mathieu; Tamalet, Aline; Montantin, Guy; Collot, Nathalie; Faucon, Catherine; Dastot, Florence; Copin, Bruno; Clement, Annick; Filoche, Marcel; Coste, André; Amselem, Serge; Escudier, Estelle; Papon, Jean-Francois; Louis, Bruno Journal: Journal of medical genetics Issue: Volume 57:Issue 4(2020) Page Start: 237 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Delineation of CCDC39/CCDC40 mutation spectrum and associated phenotypes in primary ciliary dyskinesia. Issue 6 (12th June 2012) Authors: Blanchon, Sylvain; Legendre, Marie; Copin, Bruno; Duquesnoy, Philippe; Montantin, Guy; Kott, Esther; Dastot, Florence; Jeanson, Ludovic; Cachanado, Marine; Rousseau, Alexandra; Papon, Jean François; Beydon, Nicole; Brouard, Jacques; Crestani, Bruno; Deschildre, Antoine; Désir, Julie; Dollfus, Hél... Journal: Journal of medical genetics Issue: Volume 49:Issue 6(2012) Page Start: 410 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. European Respiratory Society guidelines for the diagnosis of primary ciliary dyskinesia. Issue 1 (5th January 2017) Authors: Lucas, Jane S.; Barbato, Angelo; Collins, Samuel A.; Goutaki, Myrofora; Behan, Laura; Caudri, Daan; Dell, Sharon; Eber, Ernst; Escudier, Estelle; Hirst, Robert A.; Hogg, Claire; Jorissen, Mark; Latzin, Philipp; Legendre, Marie; Leigh, Margaret W.; Midulla, Fabio; Nielsen, Kim G.; Omran, Heymut; P... Journal: European respiratory journal Issue: Volume 49:Issue 1(2017) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Functional assessment and phenotypic heterogeneity of SFTPA1 and SFTPA2 mutations in interstitial lung diseases and lung cancer. Issue 6 (24th December 2020) Authors: Legendre, Marie; Butt, Afifaa; Borie, Raphaël; Debray, Marie-Pierre; Bouvry, Diane; Filhol-Blin, Emilie; Desroziers, Tifenn; Nau, Valérie; Copin, Bruno; Dastot-Le Moal, Florence; Héry, Mélanie; Duquesnoy, Philippe; Allou, Nathalie; Bergeron, Anne; Bermudez, Julien; Cazes, Aurélie; Chene, Anne-Lau... Journal: European respiratory journal Issue: Volume 56:Issue 6(2020) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Infertility in an adult cohort with primary ciliary dyskinesia: phenotype–gene association. Issue 5 (9th November 2017) Authors: Vanaken, Gert Jan; Bassinet, Laurence; Boon, Mieke; Mani, Rahma; Honoré, Isabelle; Papon, Jean-Francois; Cuppens, Harry; Jaspers, Martine; Lorent, Natalie; Coste, André; Escudier, Estelle; Amselem, Serge; Maitre, Bernard; Legendre, Marie; Christin-Maitre, Sophie Journal: European respiratory journal Issue: Volume 50:Issue 5(2017) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Molecular screening of a large cohort of Moroccan patients with congenital hypopituitarism. (6th February 2015) Authors: Fritez, Nabila; Sobrier, Marie‐Laure; Iraqi, Hinde; Vié‐Luton, Marie‐Pierre; Netchine, Irène; El Annas, Abdessamad; Pantel, Jacques; Collot, Nathalie; Rose, Sophie; Piterboth, William; Legendre, Marie; Chraibi, Abdelmjid; Amselem, Serge; Kadiri, Abdelkrim; Hilal, Latifa Journal: Clinical endocrinology Issue: Volume 82:Number 6(2015:Jun.) Page Start: 876 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Mosaic variants in TNFRSF1A: an emerging cause of tumour necrosis factor receptor-associated periodic syndrome. (28th May 2022) Authors: Assrawi, Eman; Louvrier, Camille; El Khouri, Elma; Delaleu, Jérémie; Copin, Bruno; Dastot-Le Moal, Florence; Piterboth, William; Legendre, Marie; Karabina, Sonia A; Grateau, Gilles; Amselem, Serge; Giurgea, Irina Journal: Rheumatology Issue: Volume 62:Number 1(2023) Page Start: 473 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗