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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.
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
Longevity in Rett syndrome: analysis of the North American Database.
Kirby RS, Lane JB, Childers J, Skinner SA, Annese F, Barrish JO, Glaze DG, Macleod P, Percy AK. Kirby RS, et al. Among authors: skinner sa. J Pediatr. 2010 Jan;156(1):135-138.e1. doi: 10.1016/j.jpeds.2009.07.015. J Pediatr. 2010. PMID: 19772971 Free PMC article.
Profiling scoliosis in Rett syndrome.
Percy AK, Lee HS, Neul JL, Lane JB, Skinner SA, Geerts SP, Annese F, Graham J, McNair L, Motil KJ, Barrish JO, Glaze DG. Percy AK, et al. Pediatr Res. 2010 Apr;67(4):435-9. doi: 10.1203/PDR.0b013e3181d0187f. Pediatr Res. 2010. PMID: 20032810 Free PMC article.
Epilepsy and the natural history of Rett syndrome.
Glaze DG, Percy AK, Skinner S, Motil KJ, Neul JL, Barrish JO, Lane JB, Geerts SP, Annese F, Graham J, McNair L, Lee HS. Glaze DG, et al. Among authors: skinner s. Neurology. 2010 Mar 16;74(11):909-12. doi: 10.1212/WNL.0b013e3181d6b852. Neurology. 2010. PMID: 20231667 Free PMC article.
Rett syndrome: revised diagnostic criteria and nomenclature.
Neul JL, Kaufmann WE, Glaze DG, Christodoulou J, Clarke AJ, Bahi-Buisson N, Leonard H, Bailey ME, Schanen NC, Zappella M, Renieri A, Huppke P, Percy AK; RettSearch Consortium. Neul JL, et al. Ann Neurol. 2010 Dec;68(6):944-50. doi: 10.1002/ana.22124. Ann Neurol. 2010. PMID: 21154482 Free PMC article.
Vitamin D deficiency is prevalent in girls and women with Rett syndrome.
Motil KJ, Barrish JO, Lane J, Geerts SP, Annese F, McNair L, Percy AK, Skinner SA, Neul JL, Glaze DG. Motil KJ, et al. J Pediatr Gastroenterol Nutr. 2011 Nov;53(5):569-74. doi: 10.1097/MPG.0b013e3182267a66. J Pediatr Gastroenterol Nutr. 2011. PMID: 21637127 Free PMC article.
Clinical severity and quality of life in children and adolescents with Rett syndrome.
Lane JB, Lee HS, Smith LW, Cheng P, Percy AK, Glaze DG, Neul JL, Motil KJ, Barrish JO, Skinner SA, Annese F, McNair L, Graham J, Khwaja O, Barnes K, Krischer JP. Lane JB, et al. Among authors: skinner sa. Neurology. 2011 Nov 15;77(20):1812-8. doi: 10.1212/WNL.0b013e3182377dd2. Epub 2011 Oct 19. Neurology. 2011. PMID: 22013176 Free PMC article.
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