1. Describing mode of death in three major cardiac amyloidosis subtypes to improve management and survival. (3rd April 2022) Authors: Kharoubi, Mounira; Bodez, Diane; Bézard, Mélanie; Zaroui, Amira; Galat, Arnault; Guendouz, Soulef; Gendre, Thierry; Hittinger, Luc; Attias, David; Mohty, Dania; Bergoend, Eric; Itti, Emmanuel; Lebras, Fabien; Hamon, David; Poullot, Elsa; Molinier-Frenkel, Valérie; Lellouche, Nicolas; Deux, Jean-F... Journal: Amyloid Issue: Volume 29:Number 2(2022) Page Start: 79 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Heterogeneity of lung disease associated with NK2 homeobox 1 mutations. (August 2017) Authors: Nattes, Elodie; Lejeune, Stephanie; Carsin, Ania; Borie, Raphael; Gibertini, Isabelle; Balinotti, Juan; Nathan, Nadia; Marchand-Adam, Sylvain; Thumerelle, Caroline; Fauroux, Brigitte; Bosdure, Emmanuelle; Houdouin, Veronique; Delestrain, Celine; Louha, MaleK.; Couderc, Remy; De Becdelievre, Alix;... Journal: Respiratory medicine Issue: Volume 129(2017) Page Start: 16 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. History of extracardiac/cardiac events in cardiac amyloidosis: prevalence and time from initial onset to diagnosis. (29th October 2021) Authors: Kharoubi, Mounira; Bézard, Mélanie; Galat, Arnault; Le Bras, Fabien; Poullot, Elsa; Molinier‐Frenkel, Valérie; Fanen, Pascale; Funalot, Benoit; Moktefi, Anissa; Lefaucheur, Jean‐Pascal; Abulizi, Mukedaisi; Deux, Jean‐François; Lemonnier, François; Guendouz, Soulef; Chalard, Coraline; Zaroui, Amir... Journal: ESC heart failure Issue: Volume 8:Number 6(2021) Page Start: 5501 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Interstitial lung disease reveals 48, XXYY syndrome in a child. (4th December 2019) Authors: Gros, Marion; Aissat, Abdel; Perez‐Martin, Stephanie; Abou Taam, Rola; Funalot, Benoit; Fanen, Pascale; Epaud, Ralph; de Becdelievre, Alix Journal: Acta pædiatrica Issue: Volume 109:Number 5(2020) Page Start: 1060 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Natural history and impact of treatment with tafamidis on major cardiovascular outcome‐free survival time in a cohort of patients with transthyretin amyloidosis. (9th November 2020) Authors: Bézard, Mélanie; Kharoubi, Mounira; Galat, Arnault; Poullot, Elsa; Guendouz, Soulef; Fanen, Pascale; Funalot, Benoit; Moktefi, Anissa; Lefaucheur, Jean‐Pascal; Abulizi, Mukedaisi; Deux, Jean‐François; Gendre, Thierry; Audard, Vincent; el Karoui, Khalil; Canoui‐Poitrine, Florence; Zaroui, Amira; I... Journal: European journal of heart failure Issue: Volume 23:Number 2(2021) Page Start: 264 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. O'Donnell-Luria-Rodan syndrome: description of a second multinational cohort and refinement of the phenotypic spectrum. Issue 7 (28th July 2021) Authors: Velmans, Clara; O'Donnell-Luria, Anne H; Argilli, Emanuela; Tran Mau-them, Frederic; Vitobello, Antonio; Chan, Marcus CY; Fung, Jasmine Lee-Fong; Rech, Megan; Abicht, Angela; Aubert Mucca, Marion; Carmichael, Jason; Chassaing, Nicolas; Clark, Robin; Coubes, Christine; Denommé-Pichon, Anne-Sophie;... Journal: Journal of medical genetics Issue: Volume 59:Issue 7(2022) Page Start: 697 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Prevalence and determinants of iron deficiency in cardiac amyloidosis. (6th February 2022) Authors: Jobbé‐Duval, Antoine; Bézard, Mélanie; Moutereau, Stéphane; Kharoubi, Mounira; Oghina, Silvia; Zaroui, Amira; Galat, Arnault; Chalard, Coraline; Hugon‐Vallet, Elisabeth; Lemonnier, Francois; Eyharts, Damien; Poulot, Elsa; Fanen, Pascale; Funalot, Benoit; Molinier‐Frenkel, Valérie; Audard, Vincent... Journal: ESC heart failure Issue: Volume 9:Number 2(2022) Page Start: 1314 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. SCN10A variants associated with congenital harlequin syndrome. (1st June 2022) Authors: Halle, Aurelie; De Becdelievre, Alix; Funalot, Benoit; Labrèze, Christine; Morice‐Picard, Fanny; Boralevi, Franck Journal: British journal of dermatology Issue: Volume 186:Number 6(2022) Page Start: 1039 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. SCN10A variants associated with congenital harlequin syndrome. (22nd March 2022) Authors: Halle, Aurelie; De Becdelievre, Alix; Funalot, Benoit; Labrèze, Christine; Morice‐Picard, Fanny; Boralevi, Franck Journal: British journal of dermatology Issue: Volume 186:Number 6(2022) Page Start: 1039 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. VPS4A mutation in syndromic congenital hemolytic anemia without obvious signs of dyserythropoiesis. Issue 4 (12th February 2021) Authors: Lunati, Ariane; Petit, Arnaud; Lapillonne, Hélène; Gameiro, Christine; Saillour, Virginie; Garel, Catherine; Doummar, Diane; Qebibo, Leila; Aissat, Abdelrazak; Fanen, Pascale; Bartolucci, Pablo; Galactéros, Fréderic; Funalot, Benoit; Burglen, Lydie; Mansour‐Hendili, Lamisse Journal: American journal of hematology Issue: Volume 96:Issue 4(2021) Page Start: E121 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗