1. A retrospective study on sleep‐disordered breathing in Morquio‐A syndrome. Issue 12 (18th November 2018) Authors: Facchina, Giulia; Amaddeo, Alessandro; Baujat, Geneviève; Breton, Sylvain; Michot, Caroline; Thierry, Briac; James, Syril; de Saint Denis, Timothé; Zerah, Michel; Khirani, Sonia; Cormier‐Daire, Valerie; Fauroux, Brigitte Journal: American journal of medical genetics Issue: Volume 176:Issue 12(2018) Page Start: 2595 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Application of the OMERACT synovitis ultrasound scoring system in juvenile idiopathic arthritis: a multicenter reliability exercise. (29th December 2020) Authors: Rossi-Semerano, Linda; Breton, Sylvain; Semerano, Luca; Boubaya, Marouane; Ohanyan, Haykanush; Bossert, Marie; Boiu, Sorina; Chatelus, Emmanuel; Durand, Géraldine; Jean, Sylvie; Goumy, Laurence; Mathiot, Anne; Mouterde, Gaël; Nugues, Frédérique; Ould Hennia, Ahmed; Rey, Bénédicte; Von Scheven, An... Journal: Rheumatology Issue: Volume 60:Number 8(2021) Page Start: 3579 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Bone involvement in monogenic autoinflammatory syndromes. (22nd August 2017) Authors: Bader-Meunier, Brigitte; Van Nieuwenhove, Erika; Breton, Sylvain; Wouters, Carine Journal: Rheumatology Issue: Volume 57:Number 4(2018) Page Start: 606 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Childhood‐onset autoimmune cytopenia as the presenting feature of biallelic ACP5 mutations. Issue 2 (8th October 2016) Authors: Sacri, Anne‐Sylvia; Bruwier, Annelyse; Baujat, Geneviève; Breton, Sylvain; Blanche, Stéphane; Briggs, Tracy A; Bader‐Meunier, Brigitte Journal: Pediatric blood & cancer Issue: Volume 64:Issue 2(2017) Page Start: 306 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Further delineation of auriculocondylar syndrome based on 14 novel cases and reassessment of 25 published cases. Issue 5 (7th March 2022) Authors: Vegas, Nancy; Demir, Zeynep; Gordon, Christopher T.; Breton, Sylvain; Romanelli Tavares, Vanessa L.; Moisset, Hugo; Zechi‐Ceide, Roseli; Kokitsu‐Nakata, Nancy M.; Kido, Yasuhiro; Marlin, Sandrine; Gherbi Halem, Souad; Meerschaut, Ilse; Callewaert, Bert; Chung, Brian; Revencu, Nicole; Lehalle, Dap... Journal: Human mutation Issue: Volume 43:Issue 5(2022) Page Start: 582 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Heterogeneity of mutational mechanisms and modes of inheritance in auriculocondylar syndrome. Issue 3 (12th January 2013) Authors: Gordon, Christopher T; Vuillot, Alice; Marlin, Sandrine; Gerkes, Erica; Henderson, Alex; AlKindy, Adila; Holder-Espinasse, Muriel; Park, Sarah S; Omarjee, Asma; Sanchis-Borja, Mateo; Bdira, Eya Ben; Oufadem, Myriam; Sikkema-Raddatz, Birgit; Stewart, Alison; Palmer, Rodger; McGowan, Ruth; Petit, F... Journal: Journal of medical genetics Issue: Volume 50:Issue 3(2013) Page Start: 174 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Impact of sleep‐disordered breathing on the management of children with Chiari malformation type I. Issue 12 (6th September 2022) Authors: Vagianou, Foteini; Khirani, Sonia; De Saint Denis, Timothée; Beccaria, Kevin; Amaddeo, Alessandro; Breton, Sylvain; James, Syril; Paternoster, Giovanna; Arnaud, Eric; Zerah, Michel; Fauroux, Brigitte Journal: Pediatric pulmonology Issue: Volume 57:Issue 12(2022) Page Start: 2954 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Pituitary deficiency and precocious puberty after childhood severe traumatic brain injury: a long-term follow-up prospective study. Issue 5 (May 2019) Authors: Dassa, Yamina; Crosnier, Hélène; Chevignard, Mathilde; Viaud, Magali; Personnier, Claire; Flechtner, Isabelle; Meyer, Philippe; Puget, Stéphanie; Boddaert, Nathalie; Breton, Sylvain; Polak, Michel Journal: European journal of endocrinology Issue: Volume 180:Issue 5(2019) Page Start: 281 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. The identification of MAFB mutations in eight patients with multicentric carpo–tarsal osteolysis supports genetic homogeneity but clinical variability. Issue 12 (16th August 2013) Authors: Mehawej, Cybel; Courcet, Jean‐Benoît; Baujat, Geneviève; Mouy, Richard; Gérard, Marion; Landru, Isabelle; Gosselin, Morgane; Koehrer, Philippe; Mousson, Christiane; Breton, Sylvain; Quartier, Pierre; Le Merrer, Martine; Faivre, Laurence; Cormier‐Daire, Valérie Journal: American journal of medical genetics Issue: Volume 161:Issue 12(2013:Dec.) Page Start: 3023 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. The identification of MAFB mutations in eight patients with multicentric carpo–tarsal osteolysis supports genetic homogeneity but clinical variability. Issue 12 (16th August 2013) Authors: Mehawej, Cybel; Courcet, Jean‐Benoît; Baujat, Geneviève; Mouy, Richard; Gérard, Marion; Landru, Isabelle; Gosselin, Morgane; Koehrer, Philippe; Mousson, Christiane; Breton, Sylvain; Quartier, Pierre; Le Merrer, Martine; Faivre, Laurence; Cormier‐Daire, Valérie Journal: American journal of medical genetics Issue: Volume 161:Issue 12(2013:Dec.) Page Start: 3023 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗