Zobrazeno 1 - 10
of 33
pro vyhledávání: '"Berkley R. Powell"'
Autor:
William B. Dobyns, Katherine C. Nickels, Berkley R. Powell, Barbara K. Burton, Art Grix, Asem Alkhateeb, Elizabeth Berry-Kravis, Soma Das, Eric D. Marsh, Wendy K. Chung, Alex R. Paciorkowski, Livija Medne, Ghayda M. Mirzaa, Andrea Paras, Elaine C. Wirrell, Katherine H. Kim
Publikováno v:
Pediatric Neurology. 48:367-377
Mutations in CDKL5 and ARX are known causes of early-onset epilepsy and severe developmental delay in males and females. Although numerous males with ARX mutations associated with various phenotypes have been reported in the literature, the majority
Autor:
Jennifer Lantz, Jodi Lewis, Elizabeth Miller, Marc S. Williams, Caitlin Valentin, Jill A. Rosenfeld, Timothy Wilks, Beth S. Torchia, J. Britt Ravnan, Berkley R. Powell, Lisa G. Shaffer, Kimberly Leiser, S. Annie Morton, Sara L. Minier, Cathryn Walker, Kimberly J. Moles, Ryan N. Traylor, Nicholas J. Neill, Jay W. Ellison
Publikováno v:
Pediatrics. 130:e1085-e1095
OBJECTIVE: To test the hypothesis that chromosomal microarray analysis frequently diagnoses conditions that require specific medical follow-up and that referring physicians respond appropriately to abnormal test results. METHODS: A total of 46 298 po
Autor:
Jay W. Ellison, Berkley R. Powell, Sara Copeland, Laura Keppen-Davis, Dietrich Matern, Jeffrey A. Kant, Jane Gillis, Marianne Rohrbach, Jaffar Alfardan, Al-Walid Mohsen, Jerry Vockley
Publikováno v:
Molecular Genetics and Metabolism. 100:333-338
Short/branched chain acyl-CoA dehydrogenase (SBCAD) deficiency, also known as 2-methylbutyryl-CoA dehydrogenase deficiency, is a recently described autosomal recessive disorder of isoleucine metabolism. Most patients reported thus far have originated
Autor:
Alexander Asamoah, Elizabeth A. Geiger, Bassem A. Bejjani, Berkley R. Powell, David D. Weaver, William I. Cohen, Elaine H. Zackai, Karen R Schmidt, Donna M. McDonald-McGinn, Heidi M. Feldman, Chad R. Haldeman-Englert, Justine Coppinger, Judy Phalin, Sulagna C. Saitta, Lisa G. Shaffer, Susan Lansky-Shafer, Blake C. Ballif, Aaron Theisen, Kate Shane, Joan F. Atkin, Robert Leland, Tamim H. Shaikh
Publikováno v:
Human Molecular Genetics. 18:1377-1383
Deletions of the 22q11.2 region distal to the 22q11.21 microdeletion syndrome region have recently been described in individuals with mental retardation and congenital anomalies. Because these deletions are mediated by low-copy repeats (LCRs), locate
Autor:
Alex V. Levin, Richard G. Weleber, Patrick Y Tong, John R. Heckenlively, Edward F. Anhalt, Kerry E. McTaggart, Ian M. MacDonald, Jacquie Greenberg, Thomas Lee, Berkley R. Powell, Paul A. Sieving
Publikováno v:
Canadian Journal of Ophthalmology. 38:364-372
Purpose: To understand which clinical presentations suggest a diagnosis of choroideremia (CHM). Methods: Retrospective chart review. Included were patients for whom a clinical diagnosis of CHM was suggested, but either protein analysis or direct sequ
Publikováno v:
Journal of Pediatric Orthopedics. 23:88-93
Dyggve-Melchior-Clausen (DMC) syndrome is a rare autosomal recessive disorder affecting skeletal development. The patients have a striking "barrel-shape" chest, shortened trunk, and various distal deformities, including genu valgum or varum, and mini
Publikováno v:
Journal of Pediatric Orthopaedics. 23:88-93
Autor:
Berkley R. Powell, Rita M. Cantor, Alan L. Shanske, David L. Rimoin, Nadia Ehtesham, Lily King, Sheila Unger, Kent A. Reinker, Daniel H. Cohn
Publikováno v:
The American Journal of Human Genetics. 71:947-951
Smith-McCort dysplasia is a rare autosomal recessive osteochondrodysplasia characterized by short limbs and a short trunk with a barrel-shaped chest. The radiographic phenotype includes platyspondyly, generalized abnormalities of the epiphyses and me
Autor:
George W. Henry, William R. Wilcox, Y. Edward Hsia, Berkley R. Powell, David L. Rimoin, Juliet Yuen, Kent A. Reinker
Publikováno v:
Journal of Pediatric Orthopaedics. 22:399-403
Two patients with Marinesco-Sjogren syndrome had striking orthopaedic abnormalities that seemed to arise from multiple areas of physeal growth arrest. Major involvement was seen in the distal femora, where bilateral hypoplasia of the lateral condyles
Autor:
Kathleen M. Fitzgerald, Gerhard W. Cibis, Peter N. Ray, Nancy M. Duncan, Robert A. White, Shannon J. Dwinnell, Sean M. Rash, Berkley R. Powell, De-Ann M. Pillers, Rhonda E. Schnur, Richard G. Weleber
Publikováno v:
Human Genetics. 105:2-9
The dark-adapted electroretinogram (ERG) of patients with Duchenne and Becker muscular dystrophy (DMD/BMD) shows a marked reduction in b-wave amplitude. Genotype-phenotype studies of mouse models for DMD show position-specific effects of the mutation