Porter Lab: Section on Molecular Dysmorphology
Page Content
Skip Internal Navigation
Scientific Articles
- Yanjanin NM, Vélez JI, Gropman A, King K, Bianconi SE, Conley SK, Brewer CC, Solomon B, Pavan WJ, Arcos-Burgos M, Patterson MC, Porter FD. Linear clinical progression, independent of age of onset, in Niemann-Pick disease, type C. Am J Med Genet B Neuropsychiatr Genet 2010;153B:132-140.
- Tierney E, Conley SK, Goodwin H, Porter FD. Analysis of short-term behavioral effects of dietary cholesterol supplementation in Smith-Lemli-Opitz Syndrome. Am J Med Genet A 2010;152A:91-95.
- Jiang X-S, Wassif CA, Backlund PS, Song L, Holtzclaw LA, Li Z, Yergey AL, Porter FD. Activation of Rho GTPases in Smith-Lemli-Opitz syndrome: pathophysiological and clinical implications. Hum Mol Genet 2010;19:1347-1357.
- Jiang X-S, Backlund PS, Wassif CA, Yergey AL, Porter FD. Quantitative proteomic analysis of inborn errors of cholesterol synthesis: identifcation of altered metabolic pathways in DHCR7 and SC5D deficiency. Mol Cell Proteomics 2010;9:1461-1475.
- Porter FD, Scherrer DE, Lanier MH, Langmade SJ, Molugu V, Gale SE, Olzeski D, Sidhu R, Dietzen DJ, Fu R, Wassif CA, Yanjanin NM, Marso SP, House J, Vite C, Schaffer JE, Ory DS. Cholesterol oxidation producs are sensitive and specific blood-based biomarkers for Niemann-Pick C1 disease. Sci Transl Med 2010;2:56ra81.
Last Updated Date: 11/30/2012