In Memoriam: William E. Connor (1921-2009)

by Shailendra B. Patel, Robert D. Steiner
Published 2010-04-01

Sterol balance in the Smith-Lemli-Opitz syndrome: reduction in whole body cholesterol synthesis and normal bile acid production

by Robert D. Steiner, Leesa M. Linck, Donna P. Flavell, Don S. Lin, William E. Connor
Published 2000-09-01

Update on newborn dried bloodspot testing for cerebrotendinous xanthomatosis: An available high-throughput liquid-chromatography tandem mass spectrometry method

by Lisa Bleyle, Hidde H. Huidekoper, Frederic M. Vaz, Renu Singh, Robert D. Steiner, Andrea E. DeBarber
Published 2016-06-01

Increased nonsterol isoprenoids, dolichol and ubiquinone, in the Smith-Lemli-Opitz syndrome: effects of dietary cholesterol

by Anuradha S. Pappu, William E. Connor, Louise S. Merkens, Julia M. Jordan, Jennifer A. Penfield, D. Roger Illingworth, Robert D. Steiner
Published 2006-12-01

Assays of plasma dehydrocholesteryl esters and oxysterols from Smith-Lemli-Opitz syndrome patients[S]

by Wei Liu, Libin Xu, Connor R. Lamberson, Louise S. Merkens, Robert D. Steiner, Ellen R. Elias, Dorothea Haas, Ned A. Porter
Published 2013-01-01

Elevated autophagy and mitochondrial dysfunction in the Smith–Lemli–Opitz Syndrome

by Shaohua Chang, Gongyi Ren, Robert D. Steiner, Louise Merkens, Jean-Baptiste Roullet, Zeljka Korade, Paul J. DiMuzio, Thomas N. Tulenko
Published 2014-01-01

A membrane defect in the pathogenesis of the Smith-Lemli-Opitz syndrome

by Thomas N. Tulenko, Kathy Boeze-Battaglia, R. Preston Mason, G. Stephen Tint, Robert D. Steiner, William E. Connor, Edward F. Labelle
Published 2006-01-01

Feedback inhibition of the cholesterol biosynthetic pathway in patients with Smith-Lemli-Opitz syndrome as demonstrated by urinary mevalonate excretion

by Anuradha S. Pappu, Robert D. Steiner, Sonja L. Connor, Donna P. Flavell, Don S. Lin, Lauren Hatcher, D.Roger Illingworth, William E. Connor
Published 2002-10-01

Apolipoprotein E–low density lipoprotein receptor interaction affects spatial memory retention and brain ApoE levels in an isoform-dependent manner

by Lance A. Johnson, Reid H.J. Olsen, Louise S. Merkens, Andrea DeBarber, Robert D. Steiner, Patrick M. Sullivan, Nobuyo Maeda, Jacob Raber
Published 2014-04-01

A blood test for cerebrotendinous xanthomatosis with potential for disease detection in newborns

by Andrea E. DeBarber, Jenny Luo, Michal Star-Weinstock, Subhasish Purkayastha, Michael T. Geraghty, John (Pei-Wen) Chiang, Louise S. Merkens, Anuradha S. Pappu, Robert D. Steiner
Published 2014-01-01

A longitudinal study of emotional adjustment, quality of life and adaptive function in attenuated MPS II

by Elsa G. Shapiro, Kyle Rudser, Alia Ahmed, Robert D. Steiner, Kathleen A. Delaney, Brianna Yund, Kelly King, Alicia Kunin-Batson, Julie Eisengart, Chester B. Whitley
Published 2016-06-01

Expert opinion on diagnosing, treating and managing patients with cerebrotendinous xanthomatosis (CTX): a modified Delphi study

by Bianca M. L. Stelten, Maria Teresa Dotti, Aad Verrips, Bülent Elibol, Tzipora C. Falik-Zaccai, Kate Hanman, Andrea Mignarri, Belina Sithole, Robert D. Steiner, Surabhi Verma, Gilad Yahalom, Tanyel Zubarioglu, Fanny Mochel, Antonio Federico
Published 2021-08-01

A Multicenter Observational Cohort Study to Evaluate the Effects of Bisphosphonate Exposure on Bone Mineral Density and Other Health Outcomes in Osteogenesis Imperfecta

by Jaskaran S Bains, Erin M Carter, Kate P Citron, Adele L Boskey, Jay R Shapiro, Robert D Steiner, Peter A Smith, Michael B Bober, Tracy Hart, David Cuthbertson, Jeff Krischer, Peter H Byers, Melanie Pepin, Michaela Durigova, Francis H Glorieux, Frank Rauch, Joseph M Sliepka, V Reid Sutton, Brendan Lee, Members of the BBD Consortium, Sandesh CS Nagamani, Cathleen L Raggio
Published 2019-05-01