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pro vyhledávání: '"C T, Gay"'
Autor:
K M, Keppler-Noreuil, A J, Carroll, S C, Finley, M, Descartes, J D, Cody, B R, DuPont, C T, Gay, R J, Leach
Publikováno v:
American journal of medical genetics. 76(5)
We report on a mother and child with a paracentric inversion of the long arm of chromosome 18: 46,XX,inv(18)(q21.1q23). The child had findings in common with those seen in 18q- syndrome including: microcephaly, epicanthal folds, midface hypoplasia, a
Autor:
C T, Gay, L J, Hardies, R A, Rauch, J L, Lancaster, R, Plaetke, B R, DuPont, J D, Cody, J E, Cornell, R C, Herndon, P D, Ghidoni, J M, Schiff, C I, Kaye, R J, Leach, P T, Fox
Publikováno v:
American journal of medical genetics. 74(4)
Magnetic resonance imaging (MRI) and MRI relaxometry were used to investigate disturbed brain myelination in 18q- syndrome, a disorder characterized by mental retardation, dysmorphic features, and growth failure. T1-weighted and dual spin-echo T2-wei
Publikováno v:
Journal of clinical neurophysiology : official publication of the American Electroencephalographic Society. 11(2)
Positron emission tomography (PET) provides an unprecedented opportunity to study the organization of cognitive functions in the working brain of normal individuals. A number of PET experiments, based on well-established paradigms derived from cognit
Autor:
C T, Gay, J B, Bodensteiner
Publikováno v:
Neurologic clinics. 8(3)
The clinician is often asked to evaluate the floppy infant. Numerous conditions that cause hypotonia in infancy are briefly outlined in this article. These conditions may affect the brain, spinal cord, or motor unit. Several disorders of neuromuscula
Autor:
M, Chorev, M E, Goldman, R L, McKee, E, Roubini, J J, Levy, C T, Gay, J E, Reagan, J E, Fisher, L H, Caporale, E E, Golub
Publikováno v:
Biochemistry. 29(6)
Truncated N-terminal fragments of parathyroid hormone (PTH), [Tyr34]bovine PTH(7-34)NH2, and parathyroid hormone related protein (PTHrP), PTHrP(7-34)NH2, inhibit [Nle8,18,[125I]iodo-Tyr34]-bPTH(1-34)NH2 binding and PTH-stimulated adenylate cyclase in
Autor:
M E, Goldman, R L, McKee, M P, Caulfield, J E, Reagan, J J, Levy, C T, Gay, P A, DeHaven, M, Rosenblatt, M, Chorev
Publikováno v:
Endocrinology. 123(5)
Based upon N-terminal parathyroid hormone (PTH) analog structure-activity relationship studies, position 12 was found to possess a wide structural latitude and was chosen as a site for single amino acid substitutions. Replacement of the naturally-occ