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Multisystem comorbidities in classic Rett syndrome: a scoping review.
Fu C, Armstrong D, Marsh E, Lieberman D, Motil K, Witt R, Standridge S, Lane J, Dinkel T, Jones M, Hale K, Suter B, Glaze D, Neul J, Percy A, Benke T. Fu C, et al. Among authors: suter b. BMJ Paediatr Open. 2020 Sep 22;4(1):e000731. doi: 10.1136/bmjpo-2020-000731. eCollection 2020. BMJ Paediatr Open. 2020. PMID: 33024833 Free PMC article. Review.
Current clinical evidence does not support a link between TBL1XR1 and Rett syndrome: Description of one patient with Rett features and a novel mutation in TBL1XR1, and a review of TBL1XR1 phenotypes.
Zaghlula M, Glaze DG, Enns GM, Potocki L, Schwabe AL, Suter B. Zaghlula M, et al. Among authors: suter b. Am J Med Genet A. 2018 Jul;176(7):1683-1687. doi: 10.1002/ajmg.a.38689. Epub 2018 May 19. Am J Med Genet A. 2018. PMID: 29777588 Review. No abstract available.
The array of clinical phenotypes of males with mutations in Methyl-CpG binding protein 2.
Neul JL, Benke TA, Marsh ED, Skinner SA, Merritt J, Lieberman DN, Standridge S, Feyma T, Heydemann P, Peters S, Ryther R, Jones M, Suter B, Kaufmann WE, Glaze DG, Percy AK. Neul JL, et al. Among authors: suter b. Am J Med Genet B Neuropsychiatr Genet. 2019 Jan;180(1):55-67. doi: 10.1002/ajmg.b.32707. Epub 2018 Dec 7. Am J Med Genet B Neuropsychiatr Genet. 2019. PMID: 30536762 Free PMC article.
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: suter b. 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.
Kinematics associated with treadmill walking in Rett syndrome.
Layne CS, Young DR, Lee BC, Glaze DG, Schwabe A, Suter B. Layne CS, et al. Among authors: suter b. Disabil Rehabil. 2021 Jun;43(11):1585-1593. doi: 10.1080/09638288.2019.1674389. Epub 2019 Oct 15. Disabil Rehabil. 2021. PMID: 31613656
216 results