1. Decreased cellular uptake and metabolism in Allan-Herndon-Dudley syndrome (AHDS) due to a novel mutation in the MCT8 thyroid hormone transporter. Issue 5 (24th June 2005) Authors: Maranduba, C M C; Friesema, E C H; Kok, F; Kester, M H A; Jansen, J; Sertié, A L; Passos-Bueno, M R; Visser, T J Journal: Journal of medical genetics Issue: Volume 43:Issue 5(2006) Page Start: 457 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. New SMS mutation leads to a striking reduction in spermine synthase protein function and a severe form of Snyder–Robinson X-linked recessive mental retardation syndrome. Issue 8 (11th June 2008) Authors: de Alencastro, G; McCloskey, D E; Kliemann, S E; Maranduba, C M C; Pegg, A E; Wang, X; Bertola, D R; Schwartz, C E; Passos-Bueno, M R; Sertié, A L Journal: Journal of medical genetics Issue: Volume 45:Issue 8(2008) Page Start: 539 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Presence of the Apert canonical S252W FGFR2 mutation in a patient without severe syndactyly. Issue 8 (August 1998) Authors: Passos-Bueno, M R; Richieri-Costa, A; Sertié, A L; Kneppers, A Journal: Journal of medical genetics Issue: Volume 35:Issue 8(1998) Page Start: 677 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗