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Year Number of Results
2003 1
2004 2
2007 1
2010 2
2016 4
2017 2
2019 1
2020 2
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2022 2
2023 1
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Page 1
Assessment of Caregiver Inventory for Rett Syndrome.
Lane JB, Salter AR, Jones NE, Cutter G, Horrigan J, Skinner SA, Kaufmann WE, Glaze DG, Neul JL, Percy AK. Lane JB, et al. Among authors: skinner sa. J Autism Dev Disord. 2017 Apr;47(4):1102-1112. doi: 10.1007/s10803-017-3034-3. J Autism Dev Disord. 2017. PMID: 28132121 Free PMC article.
Phenotypic features in MECP2 duplication syndrome: Effects of age.
Peters SU, Fu C, Marsh ED, Benke TA, Suter B, Skinner SA, Lieberman DN, Standridge S, Jones M, Beisang A, Feyma T, Heydeman P, Ryther R, Glaze DG, Percy AK, Neul JL. Peters SU, et al. Among authors: skinner sa. Am J Med Genet A. 2021 Feb;185(2):362-369. doi: 10.1002/ajmg.a.61956. Epub 2020 Nov 10. Am J Med Genet A. 2021. PMID: 33170557 Free PMC article.
Analysis of X-inactivation status in a Rett syndrome natural history study cohort.
Fang X, Butler KM, Abidi F, Gass J, Beisang A, Feyma T, Ryther RC, Standridge S, Heydemann P, Jones M, Haas R, Lieberman DN, Marsh ED, Benke TA, Skinner S, Neul JL, Percy AK, Friez MJ, Caylor RC. Fang X, et al. Among authors: skinner s. Mol Genet Genomic Med. 2022 May;10(5):e1917. doi: 10.1002/mgg3.1917. Epub 2022 Mar 23. Mol Genet Genomic Med. 2022. PMID: 35318820 Free PMC article.
Anxiety-like behavior and anxiolytic treatment in the Rett syndrome natural history study.
Buchanan CB, Stallworth JL, Joy AE, Dixon RE, Scott AE, Beisang AA, Benke TA, Glaze DG, Haas RH, Heydemann PT, Jones MD, Lane JB, Lieberman DN, Marsh ED, Neul JL, Peters SU, Ryther RC, Skinner SA, Standridge SM, Kaufmann WE, Percy AK. Buchanan CB, et al. Among authors: skinner sa. J Neurodev Disord. 2022 May 14;14(1):31. doi: 10.1186/s11689-022-09432-2. J Neurodev Disord. 2022. PMID: 35568815 Free PMC article.
Scoliosis in Rett Syndrome: Progression, Comorbidities, and Predictors.
Killian JT, Lane JB, Lee HS, Skinner SA, Kaufmann WE, Glaze DG, Neul JL, Percy AK. Killian JT, et al. Among authors: skinner sa. Pediatr Neurol. 2017 May;70:20-25. doi: 10.1016/j.pediatrneurol.2017.01.032. Epub 2017 Feb 7. Pediatr Neurol. 2017. PMID: 28347601 Free PMC article.
The development of highly potent and selective small molecule correctors of Z α1-antitrypsin misfolding.
Liddle J, Pearce AC, Arico-Muendel C, Belyanskaya S, Brewster A, Brown M, Chung CW, Denis A, Dodic N, Dossang A, Eddershaw P, Klimaszewska D, Haq I, Holmes DS, Jagger A, Jakhria T, Jigorel E, Lind K, Messer J, Neu M, Olszewski A, Ronzoni R, Rowedder J, Rüdiger M, Skinner S, Smith KJ, Trottet L, Uings I, Zhu Z, Irving JA, Lomas DA. Liddle J, et al. Among authors: skinner s. Bioorg Med Chem Lett. 2021 Jun 1;41:127973. doi: 10.1016/j.bmcl.2021.127973. Epub 2021 Mar 19. Bioorg Med Chem Lett. 2021. PMID: 33753261
Development of a small molecule that corrects misfolding and increases secretion of Z α1 -antitrypsin.
Lomas DA, Irving JA, Arico-Muendel C, Belyanskaya S, Brewster A, Brown M, Chung CW, Dave H, Denis A, Dodic N, Dossang A, Eddershaw P, Klimaszewska D, Haq I, Holmes DS, Hutchinson JP, Jagger AM, Jakhria T, Jigorel E, Liddle J, Lind K, Marciniak SJ, Messer J, Neu M, Olszewski A, Ordonez A, Ronzoni R, Rowedder J, Rüdiger M, Skinner S, Smith KJ, Terry R, Trottet L, Uings I, Wilson S, Zhu Z, Pearce AC. Lomas DA, et al. Among authors: skinner s. EMBO Mol Med. 2021 Mar 5;13(3):e13167. doi: 10.15252/emmm.202013167. Epub 2021 Jan 29. EMBO Mol Med. 2021. PMID: 33512066 Free PMC article.
Rett syndrome: North American database.
Percy AK, Lane JB, Childers J, Skinner S, Annese F, Barrish J, Caeg E, Glaze DG, MacLeod P. Percy AK, et al. Among authors: skinner s. J Child Neurol. 2007 Dec;22(12):1338-41. doi: 10.1177/0883073807308715. J Child Neurol. 2007. PMID: 18174548
Characterizing the phenotypic effect of Xq28 duplication size in MECP2 duplication syndrome.
Peters SU, Fu C, Suter B, Marsh E, Benke TA, Skinner SA, Lieberman DN, Standridge S, Jones M, Beisang A, Feyma T, Heydeman P, Ryther R, Kaufmann WE, Glaze DG, Neul JL, Percy AK. Peters SU, et al. Among authors: skinner sa. Clin Genet. 2019 May;95(5):575-581. doi: 10.1111/cge.13521. Epub 2019 Mar 15. Clin Genet. 2019. PMID: 30788845 Free PMC article.
20 results