1. BTNL2 gene polymorphism and sarcoid uveitis. Issue 12 (14th March 2019) Authors: Chaperon, Mayeul; Pacheco, Yves; Maucort-Boulch, Delphine; Iwaz, Jean; Perard, Laurent; Broussolle, Christiane; Jamilloux, Yvan; Burillon, Carole; Kodjikian, Laurent; Calender, Alain; Seve, Pascal Journal: British journal of ophthalmology Issue: Volume 103:Issue 12(2019) Page Start: 1690 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Complex mosaic CDKL5 deletion with two distinct mutant alleles in a 4‐year‐old girl. Issue 8 (8th April 2014) Authors: Boutry‐Kryza, Nadia; Ville, Dorothée; Labalme, Audrey; Calender, Alain; Dupont, Jean‐Michel; Touraine, Renaud; Edery, Patrick; des Portes, Vincent; Sanlaville, Damien; Lesca, Gaetan Journal: American journal of medical genetics Issue: Volume 164:Issue 8(2014.) Page Start: 2025 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Correspondence for "clinical epidemiology of familial sarcoidosis: A systematic literature review". (November 2019) Authors: Calender, Alain; Valeyre, Dominique; Israel-Biet, Dominique; Pacheco, Yves Journal: Respiratory medicine Issue: Volume 160(2019) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Exome sequencing and pathogenicity-network analysis of five French families implicate mTOR signalling and autophagy in familial sarcoidosis. Issue 2 (1st August 2019) Authors: Calender, Alain; Lim, Clarice X.; Weichhart, Thomas; Buisson, Adrien; Besnard, Valérie; Rollat-Farnier, Pierre Antoine; Bardel, Claire; Roy, Pascal; Cottin, Vincent; Devouassoux, Gilles; Finat, Amélie; Pinson, Stéphane; Lebecque, Serge; Nunes, Hilario; Israel-Biet, Dominique; Bentaher, Abderazzaq... Journal: European respiratory journal Issue: Volume 54:Issue 2(2019) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Familial vs. sporadic sarcoidosis: BTNL2 polymorphisms, clinical presentations, and outcomes in a French cohort. Issue 1 (December 2016) Authors: Pacheco, Yves; Calender, Alain; Israël-Biet, Dominique; Roy, Pascal; Lebecque, Serge; Cottin, Vincent; Bouvry, Diane; Nunes, Hilario; Sève, Pascal; Pérard, Laurent; Devouassoux, Gilles; Freymond, Nathalie; Khouatra, Chahira; Wallaert, Benoît; Lamy, Raphaelle; Elsensohn, Mad-Hélénie; Bardel, Clair... Journal: Orphanet journal of rare diseases Issue: Volume 11:Issue 1(2016) Page Start: 1 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Granulomatous lung inflammation is nanoparticle type-dependent. (2nd January 2018) Authors: Pacheco, Yves; Ponchon, Marine; Lebecque, Serge; Calender, Alain; Bernaudin, Jean François; Valeyre, Dominique; Iglarz, Marc; Strasser, Daniel S.; Studer, Rolf; Freti, Diego; Renno, Toufiq; Bentaher, Abederrazzaq Journal: Experimental lung research Issue: Volume 44:Number 1(2018) Page Start: 25 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Modeling Potential Autophagy Pathways in COVID-19 and Sarcoidosis. Issue 10 (October 2020) Authors: Calender, Alain; Israel-Biet, Dominique; Valeyre, Dominique; Pacheco, Yves Journal: Trends in immunology Issue: Volume 41:Issue 10(2020) Page Start: 856 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Novel KCNQ2 and KCNQ3 Mutations in a Large Cohort of Families with Benign Neonatal Epilepsy: First Evidence for an Altered Channel Regulation by Syntaxin‐1A. Issue 3 (13th January 2014) Authors: Soldovieri, Maria Virginia; Boutry‐Kryza, Nadia; Milh, Mathieu; Doummar, Diane; Heron, Benedicte; Bourel, Emilie; Ambrosino, Paolo; Miceli, Francesco; De, Michela; Dorison, Nathalie; Auvin, Stephane; Echenne, Bernard; Oertel, Julie; Riquet, Audrey; Lambert, Laetitia; Gerard, Marion; Roubergue, An... Journal: Human mutation Issue: Volume 35:Issue 3(2014:Mar.) Page Start: 356 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Paediatric sarcoidosis. (February 2019) Authors: Nathan, Nadia; Sileo, Chiara; Calender, Alain; Pacheco, Yves; Rosental, Paul-André; Cavalin, Catherine; Macchi, Odile; Valeyre, Dominique; Clement, Annick Journal: Paediatric respiratory reviews Issue: Volume 29(2019) Page Start: 53 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Proposition of adjustments to the ACMG‐AMP framework for the interpretation of MEN1 missense variants. Issue 6 (28th March 2019) Authors: Romanet, Pauline; Odou, Marie‐Françoise; North, Marie‐Odile; Saveanu, Alexandru; Coppin, Lucie; Pasmant, Eric; Mohamed, Amira; Goudet, Pierre; Borson‐Chazot, Françoise; Calender, Alain; Béroud, Christophe; Lévy, Nicolas; Giraud, Sophie; Barlier, Anne Journal: Human mutation Issue: Volume 40:Issue 6(2019) Page Start: 661 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗