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Recommendations by the ClinGen Rett/Angelman-like expert panel for gene-specific variant interpretation methods.
McKnight D, Bean L, Karbassi I, Beattie K, Bienvenu T, Bonin H, Fang P, Chrisodoulou J, Friez M, Helgeson M, Krishnaraj R, Meng L, Mighion L, Neul J, Percy A, Ramsden S, Zoghbi H, Das S. McKnight D, et al. Among authors: zoghbi h. Hum Mutat. 2022 Aug;43(8):1097-1113. doi: 10.1002/humu.24302. Epub 2021 Dec 2. Hum Mutat. 2022. PMID: 34837432 Free PMC article.
A de novo X;3 translocation in Rett syndrome.
Zoghbi HY, Ledbetter DH, Schultz R, Percy AK, Glaze DG. Zoghbi HY, et al. Am J Med Genet. 1990 Jan;35(1):148-51. doi: 10.1002/ajmg.1320350131. Am J Med Genet. 1990. PMID: 2301468
Mutations in exon 1 of MECP2 are a rare cause of Rett syndrome.
Amir RE, Fang P, Yu Z, Glaze DG, Percy AK, Zoghbi HY, Roa BB, Van den Veyver IB. Amir RE, et al. Among authors: zoghbi hy. J Med Genet. 2005 Feb;42(2):e15. doi: 10.1136/jmg.2004.026161. J Med Genet. 2005. PMID: 15689438 Free PMC article. No abstract available.
Neuropathology of Rett syndrome.
Jellinger K, Armstrong D, Zoghbi HY, Percy AK. Jellinger K, et al. Among authors: zoghbi hy. Acta Neuropathol. 1988;76(2):142-58. doi: 10.1007/BF00688098. Acta Neuropathol. 1988. PMID: 2900587
Rett syndrome: controlled study of an oral opiate antagonist, naltrexone.
Percy AK, Glaze DG, Schultz RJ, Zoghbi HY, Williamson D, Frost JD Jr, Jankovic JJ, del Junco D, Skender M, Waring S, et al. Percy AK, et al. Among authors: zoghbi hy. Ann Neurol. 1994 Apr;35(4):464-70. doi: 10.1002/ana.410350415. Ann Neurol. 1994. PMID: 8154874 Clinical Trial.
431 results