1. Beckwith–Wiedemann syndrome and long QT syndrome due to familial‐balanced translocation t(11;17)(p15.5;q21.3) involving the KCNQ1 gene. (14th November 2012) Authors: Kaltenbach, S; Capri, Y; Rossignol, S; Denjoy, I; Soudée, S; Aboura, A; Baumann, C; Verloes, A Journal: Clinical genetics Issue: Volume 84:Number 1(2013:Jul.) Page Start: 78 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. CDKN1C mutation affecting the PCNA-binding domain as a cause of familial Russell Silver syndrome. Issue 12 (24th September 2013) Authors: Brioude, F; Oliver-Petit, I; Blaise, A; Praz, F; Rossignol, S; Jule, M Le; Thibaud, N; Faussat, A-M; Tauber, M; Bouc, Y Le; Netchine, I Journal: Journal of medical genetics Issue: Volume 50:Issue 12(2013) Page Start: 823 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. OFD1 mutations in males: phenotypic spectrum and ciliary basal body docking impairment. (4th October 2012) Authors: Thauvin‐Robinet, C; Thomas, S; Sinico, M; Aral, B; Burglen, L; Gigot, N; Dollfus, H; Rossignol, S; Raynaud, M; Philippe, C; Badens, C; Touraine, R; Gomes, C; Franco, B; Lopez, E; Elkhartoufi, N; Faivre, L; Munnich, A; Boddaert, N; Maldergem, L Van Journal: Clinical genetics Issue: Volume 84:Number 1(2013:Jul.) Page Start: 86 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. The epigenetic imprinting defect of patients with Beckwith—Wiedemann syndrome born after assisted reproductive technology is not restricted to the 11p15 region. Issue 12 (6th July 2006) Authors: Rossignol, S; Steunou, V; Chalas, C; Kerjean, A; Rigolet, M; Viegas-Pequignot, E; Jouannet, P; Le Bouc, Y; Gicquel, C Journal: Journal of medical genetics Issue: Volume 43:Issue 12(2006) Page Start: 902 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗