Theda C - Search Results

1

De novo alu-element insertions in FGFR2 identify a distinct pathological basis for Apert syndrome.

Oldridge M, Zackai EH, McDonald-McGinn DM, Iseki S, Morriss-Kay GM, Twigg SR, Johnson D, Wall SA, Jiang W, Theda C, Jabs EW, Wilkie AO. Oldridge M, et al. Among authors: theda c. Am J Hum Genet. 1999 Feb;64(2):446-61. doi: 10.1086/302245. Am J Hum Genet. 1999. PMID: 9973282 Free PMC article.

2

Analysis of phenotypic features and FGFR2 mutations in Apert syndrome.

Park WJ, Theda C, Maestri NE, Meyers GA, Fryburg JS, Dufresne C, Cohen MM Jr, Jabs EW. Park WJ, et al. Among authors: theda c. Am J Hum Genet. 1995 Aug;57(2):321-8. Am J Hum Genet. 1995. PMID: 7668257 Free PMC article.

3

Novel FGFR2 mutations in Crouzon and Jackson-Weiss syndromes show allelic heterogeneity and phenotypic variability.

Park WJ, Meyers GA, Li X, Theda C, Day D, Orlow SJ, Jones MC, Jabs EW. Park WJ, et al. Among authors: theda c. Hum Mol Genet. 1995 Jul;4(7):1229-33. doi: 10.1093/hmg/4.7.1229. Hum Mol Genet. 1995. PMID: 8528214

4

Newborn screening for X-linked adrenoleukodystrophy: further evidence high throughput screening is feasible.

Theda C, Gibbons K, Defor TE, Donohue PK, Golden WC, Kline AD, Gulamali-Majid F, Panny SR, Hubbard WC, Jones RO, Liu AK, Moser AB, Raymond GV. Theda C, et al. Mol Genet Metab. 2014 Jan;111(1):55-7. doi: 10.1016/j.ymgme.2013.10.019. Epub 2013 Nov 9. Mol Genet Metab. 2014. PMID: 24268529 Free PMC article.

5

Formation of the peroxisome lumen is abolished by loss of Pichia pastoris Pas7p, a zinc-binding integral membrane protein of the peroxisome.

Kalish JE, Theda C, Morrell JC, Berg JM, Gould SJ. Kalish JE, et al. Among authors: theda c. Mol Cell Biol. 1995 Nov;15(11):6406-19. doi: 10.1128/MCB.15.11.6406. Mol Cell Biol. 1995. PMID: 7565793 Free PMC article.

6

Phospholipids in X-linked adrenoleukodystrophy white matter: fatty acid abnormalities before the onset of demyelination.

Theda C, Moser AB, Powers JM, Moser HW. Theda C, et al. J Neurol Sci. 1992 Jul;110(1-2):195-204. doi: 10.1016/0022-510x(92)90028-j. J Neurol Sci. 1992. PMID: 1506859 Free article.

7

Increased very long chain fatty acids in patients on a ketogenic diet: a cause of diagnostic confusion.

Theda C, Woody RC, Naidu S, Moser AB, Moser HW. Theda C, et al. J Pediatr. 1993 May;122(5 Pt 1):724-6. doi: 10.1016/s0022-3476(06)80013-2. J Pediatr. 1993. PMID: 8496750

8

X-linked adrenoleukodystrophy: Pathology, pathophysiology, diagnostic testing, newborn screening and therapies.

Turk BR, Theda C, Fatemi A, Moser AB. Turk BR, et al. Among authors: theda c. Int J Dev Neurosci. 2020 Feb;80(1):52-72. doi: 10.1002/jdn.10003. Epub 2020 Jan 26. Int J Dev Neurosci. 2020. PMID: 31909500 Free PMC article. Review.

9

X-linked Adrenoleukodystrophy: Pathology, Pathophysiology, Diagnostic Testing, Newborn Screening, and Therapies.

Turk BR, Theda C, Fatemi A, Moser AB. Turk BR, et al. Among authors: theda c. Int J Dev Neurosci. 2019 Nov 25:S0736-5748(19)30133-9. doi: 10.1016/j.ijdevneu.2019.11.002. Online ahead of print. Int J Dev Neurosci. 2019. PMID: 31778737 Review.

10

Neuronal migration abnormality in peroxisomal bifunctional enzyme defect.

Kaufmann WE, Theda C, Naidu S, Watkins PA, Moser AB, Moser HW. Kaufmann WE, et al. Among authors: theda c. Ann Neurol. 1996 Feb;39(2):268-71. doi: 10.1002/ana.410390218. Ann Neurol. 1996. PMID: 8967760

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