Items where Author is "Stevenson, Brian J."

2016

Kiper, Pelin O. Simsek and Saito, Hiroaki and Gori, Francesca and Unger, Sheila and Hesse, Eric and Yamana, Kei and Kiviranta, Riku and Solban, Nicolas and Liu, Jeff and Brommage, Robert and Boduroglu, Koray and Bonafé, Luisa and Campos-Xavier, Belinda and Dikoglu, Esra and Eastell, Richard and Gossiel, Fatma and Harshman, Keith and Nishimura, Gen and Girisha, Katta M. and Stevenson, Brian J. and Takita, Hiroyuki and Rivolta, Carlo and Superti-Furga, Andrea and Baron, Roland. (2016) Cortical-Bone Fragility--Insights from sFRP4 Deficiency in Pyle's Disease. The New England Journal of Medicine, 374 (26). pp. 2553-2562.

van Karnebeek, Clara D. M. and Bonafé, Luisa and Wen, Xiao-Yan and Tarailo-Graovac, Maja and Balzano, Sara and Royer-Bertrand, Beryl and Ashikov, Angel and Garavelli, Livia and Mammi, Isabella and Turolla, Licia and Breen, Catherine and Donnai, Dian and Cormier-Daire, Valérie and Heron, Delphine and Nishimura, Gen and Uchikawa, Shinichi and Campos-Xavier, Belinda and Rossi, Antonio and Hennet, Thierry and Brand-Arzamendi, Koroboshka and Rozmus, Jacob and Harshman, Keith and Stevenson, Brian J. and Girardi, Enrico and Superti-Furga, Giulio and Dewan, Tammie and Collingridge, Alissa and Halparin, Jessie and Ross, Colin J. and Van Allen, Margot I. and Rossi, Andrea and Engelke, Udo F. and Kluijtmans, Leo A. J. and van der Heeft, Ed and Renkema, Herma and de Brouwer, Arjan and Huijben, Karin and Zijlstra, Fokje and Heise, Torben and Boltje, Thomas and Wasserman, Wyeth W. and Rivolta, Carlo and Unger, Sheila and Lefeber, Dirk J. and Wevers, Ron A. and Superti-Furga, Andrea. (2016) NANS-mediated synthesis of sialic acid is required for brain and skeletal development. Nature Genetics, 48 (7). pp. 777-784.

April 2011

Valsesia, Armand and Rimoldi, Donata and Martinet, Danielle and Ibberson, Mark and Benaglio, Paola and Quadroni, Manfredo and Waridel, Patrice and Gaillard, Muriel and Pidoux, Mireille and Rapin, Blandine and Rivolta, Carlo and Xenarios, Ioannis and Simpson, Andrew J. G. and Antonarakis, Stylianos E. and Beckmann, Jacques S. and Jongeneel, C. Victor and Iseli, Christian and Stevenson, Brian J.. (2011) Network-guided analysis of genes with altered somatic copy number and gene expression reveals pathways commonly perturbed in metastatic melanoma. PloS one, 6 (4). e18369.