Lowered DHCR7 activity measured by ergosterol conversion in multiple cell types in Smith-Lemli-Opitz syndrome

Autor: Kevin P. Battaile, Cheryl Maslen, Brian C. Battaile, K. Michael Gibson, Sharon Ginat, Robert D. Steiner

Publikováno v: Molecular genetics and metabolism. 83(1-2)

Smith-Lemli-Opitz syndrome (SLOS) is an autosomal recessive disorder of cholesterol metabolism characterized by multiple congenital anomalies and mental retardation. SLOS results from mutations in 7-dehydrocholesterol Delta7 reductase (DHCR7), the ge

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::69d1fda9913822d109bde6db994b2fbc
https://pubmed.ncbi.nlm.nih.gov/15464432

Cellular and Molecular Studies of Smith-Lemli-Opitz Syndrome

Autor: Christopher A. Wassif, Ngozi A. Nwokoro, Cheryl Maslen, Robert D Steiner, Forbes D. Porter, Maria Tsokos

Publikováno v: Pediatric Research. 45:140A-140A

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::0fff4e9e308733551230f2aef23ee4a8
https://doi.org/10.1203/00006450-199904020-00835

The Arizona Cognitive Test Battery for Down Syndrome: Test-Retest Reliability and Practice Effects.

Autor: Edgin JO; Jamie O. Edgin and Payal Anand, University of Arizona; Tracie Rosser, Emory University; Elizabeth I. Pierpont, University of Wisconsin-Madison and University of Minnesota; Carlos Figueroa, University of Arizona; Debra Hamilton and Lillie Huddleston, Georgia State University; Gina Mason, Cornell University; Goffredina Spanò, University of Arizona; Lisa Toole, Johns Hopkins University; Mina Nguyen-Driver, Oregon Health Sciences University; George Capone, Johns Hopkins University; Leonard Abbeduto, University of Wisconsin-Madison and University of California, Davis; Cheryl Maslen, Oregon Health Sciences University; Roger H. Reeves, Johns Hopkins University; and Stephanie Sherman, Emory University., Anand P; Jamie O. Edgin and Payal Anand, University of Arizona; Tracie Rosser, Emory University; Elizabeth I. Pierpont, University of Wisconsin-Madison and University of Minnesota; Carlos Figueroa, University of Arizona; Debra Hamilton and Lillie Huddleston, Georgia State University; Gina Mason, Cornell University; Goffredina Spanò, University of Arizona; Lisa Toole, Johns Hopkins University; Mina Nguyen-Driver, Oregon Health Sciences University; George Capone, Johns Hopkins University; Leonard Abbeduto, University of Wisconsin-Madison and University of California, Davis; Cheryl Maslen, Oregon Health Sciences University; Roger H. Reeves, Johns Hopkins University; and Stephanie Sherman, Emory University., Rosser T; Jamie O. Edgin and Payal Anand, University of Arizona; Tracie Rosser, Emory University; Elizabeth I. Pierpont, University of Wisconsin-Madison and University of Minnesota; Carlos Figueroa, University of Arizona; Debra Hamilton and Lillie Huddleston, Georgia State University; Gina Mason, Cornell University; Goffredina Spanò, University of Arizona; Lisa Toole, Johns Hopkins University; Mina Nguyen-Driver, Oregon Health Sciences University; George Capone, Johns Hopkins University; Leonard Abbeduto, University of Wisconsin-Madison and University of California, Davis; Cheryl Maslen, Oregon Health Sciences University; Roger H. Reeves, Johns Hopkins University; and Stephanie Sherman, Emory University., Pierpont EI; Jamie O. Edgin and Payal Anand, University of Arizona; Tracie Rosser, Emory University; Elizabeth I. Pierpont, University of Wisconsin-Madison and University of Minnesota; Carlos Figueroa, University of Arizona; Debra Hamilton and Lillie Huddleston, Georgia State University; Gina Mason, Cornell University; Goffredina Spanò, University of Arizona; Lisa Toole, Johns Hopkins University; Mina Nguyen-Driver, Oregon Health Sciences University; George Capone, Johns Hopkins University; Leonard Abbeduto, University of Wisconsin-Madison and University of California, Davis; Cheryl Maslen, Oregon Health Sciences University; Roger H. Reeves, Johns Hopkins University; and Stephanie Sherman, Emory University., Figueroa C; Jamie O. Edgin and Payal Anand, University of Arizona; Tracie Rosser, Emory University; Elizabeth I. Pierpont, University of Wisconsin-Madison and University of Minnesota; Carlos Figueroa, University of Arizona; Debra Hamilton and Lillie Huddleston, Georgia State University; Gina Mason, Cornell University; Goffredina Spanò, University of Arizona; Lisa Toole, Johns Hopkins University; Mina Nguyen-Driver, Oregon Health Sciences University; George Capone, Johns Hopkins University; Leonard Abbeduto, University of Wisconsin-Madison and University of California, Davis; Cheryl Maslen, Oregon Health Sciences University; Roger H. Reeves, Johns Hopkins University; and Stephanie Sherman, Emory University., Hamilton D; Jamie O. Edgin and Payal Anand, University of Arizona; Tracie Rosser, Emory University; Elizabeth I. Pierpont, University of Wisconsin-Madison and University of Minnesota; Carlos Figueroa, University of Arizona; Debra Hamilton and Lillie Huddleston, Georgia State University; Gina Mason, Cornell University; Goffredina Spanò, University of Arizona; Lisa Toole, Johns Hopkins University; Mina Nguyen-Driver, Oregon Health Sciences University; George Capone, Johns Hopkins University; Leonard Abbeduto, University of Wisconsin-Madison and University of California, Davis; Cheryl Maslen, Oregon Health Sciences University; Roger H. Reeves, Johns Hopkins University; and Stephanie Sherman, Emory University., Huddleston L; Jamie O. Edgin and Payal Anand, University of Arizona; Tracie Rosser, Emory University; Elizabeth I. Pierpont, University of Wisconsin-Madison and University of Minnesota; Carlos Figueroa, University of Arizona; Debra Hamilton and Lillie Huddleston, Georgia State University; Gina Mason, Cornell University; Goffredina Spanò, University of Arizona; Lisa Toole, Johns Hopkins University; Mina Nguyen-Driver, Oregon Health Sciences University; George Capone, Johns Hopkins University; Leonard Abbeduto, University of Wisconsin-Madison and University of California, Davis; Cheryl Maslen, Oregon Health Sciences University; Roger H. Reeves, Johns Hopkins University; and Stephanie Sherman, Emory University., Mason G; Jamie O. Edgin and Payal Anand, University of Arizona; Tracie Rosser, Emory University; Elizabeth I. Pierpont, University of Wisconsin-Madison and University of Minnesota; Carlos Figueroa, University of Arizona; Debra Hamilton and Lillie Huddleston, Georgia State University; Gina Mason, Cornell University; Goffredina Spanò, University of Arizona; Lisa Toole, Johns Hopkins University; Mina Nguyen-Driver, Oregon Health Sciences University; George Capone, Johns Hopkins University; Leonard Abbeduto, University of Wisconsin-Madison and University of California, Davis; Cheryl Maslen, Oregon Health Sciences University; Roger H. Reeves, Johns Hopkins University; and Stephanie Sherman, Emory University., Spanò G; Jamie O. Edgin and Payal Anand, University of Arizona; Tracie Rosser, Emory University; Elizabeth I. Pierpont, University of Wisconsin-Madison and University of Minnesota; Carlos Figueroa, University of Arizona; Debra Hamilton and Lillie Huddleston, Georgia State University; Gina Mason, Cornell University; Goffredina Spanò, University of Arizona; Lisa Toole, Johns Hopkins University; Mina Nguyen-Driver, Oregon Health Sciences University; George Capone, Johns Hopkins University; Leonard Abbeduto, University of Wisconsin-Madison and University of California, Davis; Cheryl Maslen, Oregon Health Sciences University; Roger H. Reeves, Johns Hopkins University; and Stephanie Sherman, Emory University., Toole L; Jamie O. Edgin and Payal Anand, University of Arizona; Tracie Rosser, Emory University; Elizabeth I. Pierpont, University of Wisconsin-Madison and University of Minnesota; Carlos Figueroa, University of Arizona; Debra Hamilton and Lillie Huddleston, Georgia State University; Gina Mason, Cornell University; Goffredina Spanò, University of Arizona; Lisa Toole, Johns Hopkins University; Mina Nguyen-Driver, Oregon Health Sciences University; George Capone, Johns Hopkins University; Leonard Abbeduto, University of Wisconsin-Madison and University of California, Davis; Cheryl Maslen, Oregon Health Sciences University; Roger H. Reeves, Johns Hopkins University; and Stephanie Sherman, Emory University., Nguyen-Driver M; Jamie O. Edgin and Payal Anand, University of Arizona; Tracie Rosser, Emory University; Elizabeth I. Pierpont, University of Wisconsin-Madison and University of Minnesota; Carlos Figueroa, University of Arizona; Debra Hamilton and Lillie Huddleston, Georgia State University; Gina Mason, Cornell University; Goffredina Spanò, University of Arizona; Lisa Toole, Johns Hopkins University; Mina Nguyen-Driver, Oregon Health Sciences University; George Capone, Johns Hopkins University; Leonard Abbeduto, University of Wisconsin-Madison and University of California, Davis; Cheryl Maslen, Oregon Health Sciences University; Roger H. Reeves, Johns Hopkins University; and Stephanie Sherman, Emory University., Capone G; Jamie O. Edgin and Payal Anand, University of Arizona; Tracie Rosser, Emory University; Elizabeth I. Pierpont, University of Wisconsin-Madison and University of Minnesota; Carlos Figueroa, University of Arizona; Debra Hamilton and Lillie Huddleston, Georgia State University; Gina Mason, Cornell University; Goffredina Spanò, University of Arizona; Lisa Toole, Johns Hopkins University; Mina Nguyen-Driver, Oregon Health Sciences University; George Capone, Johns Hopkins University; Leonard Abbeduto, University of Wisconsin-Madison and University of California, Davis; Cheryl Maslen, Oregon Health Sciences University; Roger H. Reeves, Johns Hopkins University; and Stephanie Sherman, Emory University., Abbeduto L; Jamie O. Edgin and Payal Anand, University of Arizona; Tracie Rosser, Emory University; Elizabeth I. Pierpont, University of Wisconsin-Madison and University of Minnesota; Carlos Figueroa, University of Arizona; Debra Hamilton and Lillie Huddleston, Georgia State University; Gina Mason, Cornell University; Goffredina Spanò, University of Arizona; Lisa Toole, Johns Hopkins University; Mina Nguyen-Driver, Oregon Health Sciences University; George Capone, Johns Hopkins University; Leonard Abbeduto, University of Wisconsin-Madison and University of California, Davis; Cheryl Maslen, Oregon Health Sciences University; Roger H. Reeves, Johns Hopkins University; and Stephanie Sherman, Emory University., Maslen C; Jamie O. Edgin and Payal Anand, University of Arizona; Tracie Rosser, Emory University; Elizabeth I. Pierpont, University of Wisconsin-Madison and University of Minnesota; Carlos Figueroa, University of Arizona; Debra Hamilton and Lillie Huddleston, Georgia State University; Gina Mason, Cornell University; Goffredina Spanò, University of Arizona; Lisa Toole, Johns Hopkins University; Mina Nguyen-Driver, Oregon Health Sciences University; George Capone, Johns Hopkins University; Leonard Abbeduto, University of Wisconsin-Madison and University of California, Davis; Cheryl Maslen, Oregon Health Sciences University; Roger H. Reeves, Johns Hopkins University; and Stephanie Sherman, Emory University., Reeves RH; Jamie O. Edgin and Payal Anand, University of Arizona; Tracie Rosser, Emory University; Elizabeth I. Pierpont, University of Wisconsin-Madison and University of Minnesota; Carlos Figueroa, University of Arizona; Debra Hamilton and Lillie Huddleston, Georgia State University; Gina Mason, Cornell University; Goffredina Spanò, University of Arizona; Lisa Toole, Johns Hopkins University; Mina Nguyen-Driver, Oregon Health Sciences University; George Capone, Johns Hopkins University; Leonard Abbeduto, University of Wisconsin-Madison and University of California, Davis; Cheryl Maslen, Oregon Health Sciences University; Roger H. Reeves, Johns Hopkins University; and Stephanie Sherman, Emory University., Sherman S; Jamie O. Edgin and Payal Anand, University of Arizona; Tracie Rosser, Emory University; Elizabeth I. Pierpont, University of Wisconsin-Madison and University of Minnesota; Carlos Figueroa, University of Arizona; Debra Hamilton and Lillie Huddleston, Georgia State University; Gina Mason, Cornell University; Goffredina Spanò, University of Arizona; Lisa Toole, Johns Hopkins University; Mina Nguyen-Driver, Oregon Health Sciences University; George Capone, Johns Hopkins University; Leonard Abbeduto, University of Wisconsin-Madison and University of California, Davis; Cheryl Maslen, Oregon Health Sciences University; Roger H. Reeves, Johns Hopkins University; and Stephanie Sherman, Emory University.

Publikováno v: American journal on intellectual and developmental disabilities [Am J Intellect Dev Disabil] 2017 May; Vol. 122 (3), pp. 215-234.