REFERENCES
Allen, R. C., Zoghbi, H. Y., Moseley, A. B., Rosenblatt, H. M., &
Belmont, J. W. (1992). Methylation of HpaII and HhaI sites near the
polymorphic CAG repeat in the human androgen-receptor gene correlates
with X chromosome inactivation. Am J Hum Genet, 51(6), 1229-1239.
Bhatnagar, S., Zhu, X., Ou, J., Lin, L., Chamberlain, L., Zhu, L. J., .
. . Green, M. R. (2014). Genetic and pharmacological reactivation of the
mammalian inactive X chromosome. Proc Natl Acad Sci U S A, 111(35),
12591-12598. doi:10.1073/pnas.1413620111
Bijlsma, E. K., Collins, A., Papa, F. T., Tejada, M. I., Wheeler, P.,
Peeters, E. A., . . . Ruivenkamp, C. A. (2012). Xq28 duplications
including MECP2 in five females: Expanding the phenotype to severe
mental retardation. Eur J Med Genet, 55(6-7), 404-413.
doi:10.1016/j.ejmg.2012.02.009
Borovecki, F., Lovrecic, L., Zhou, J., Jeong, H., Then, F., Rosas, H.
D., . . . Krainc, D. (2005). Genome-wide expression profiling of human
blood reveals biomarkers for Huntington’s disease. Proc Natl Acad Sci U
S A, 102(31), 11023-11028. doi:10.1073/pnas.0504921102
Collins, A. L., Levenson, J. M., Vilaythong, A. P., Richman, R.,
Armstrong, D. L., Noebels, J. L., . . . Zoghbi, H. Y. (2004). Mild
overexpression of MeCP2 causes a progressive neurological disorder in
mice. Hum Mol Genet, 13(21), 2679-2689. doi:10.1093/hmg/ddh282
Ehrhart, F., Coort, S. L., Cirillo, E., Smeets, E., Evelo, C. T., &
Curfs, L. M. (2016). Rett syndrome - biological pathways leading from
MECP2 to disorder phenotypes. Orphanet J Rare Dis, 11(1), 158.
doi:10.1186/s13023-016-0545-5
El Chehadeh, S., Touraine, R., Prieur, F., Reardon, W., Bienvenu, T.,
Chantot-Bastaraud, S., . . . Faivre, L. (2017). Xq28 duplication
including MECP2 in six unreported affected females: what can we learn
for diagnosis and genetic counselling? Clin Genet, 91(4), 576-588.
doi:10.1111/cge.12898
Fieremans, N., Bauters, M., Belet, S., Verbeeck, J., Jansen, A. C.,
Seneca, S., . . . Froyen, G. (2014). De novo MECP2 duplications in two
females with intellectual disability and unfavorable complete skewed
X-inactivation. Hum Genet, 133(11), 1359-1367.
doi:10.1007/s00439-014-1469-6
Horga, A., Woodward, C. E., Mills, A., Parees, I., Hargreaves, I. P.,
Brown, R. M., . . . Hanna, M. G. (2019). Differential phenotypic
expression of a novel PDHA1 mutation in a female monozygotic twin pair.
Hum Genet, 138(11-12), 1313-1322. doi:10.1007/s00439-019-02075-9
Lee, J. T. (2011). Gracefully ageing at 50, X-chromosome inactivation
becomes a paradigm for RNA and chromatin control. Nat Rev Mol Cell Biol,
12(12), 815-826. doi:10.1038/nrm3231
Machado, F. B., Machado, F. B., Faria, M. A., Lovatel, V. L., Alves da
Silva, A. F., Radic, C. P., . . . Medina-Acosta, E. (2014). 5meCpG
epigenetic marks neighboring a primate-conserved core promoter short
tandem repeat indicate X-chromosome inactivation. PLoS One, 9(7),
e103714. doi:10.1371/journal.pone.0103714
Makrythanasis, P., Moix, I., Gimelli, S., Fluss, J., Aliferis, K.,
Antonarakis, S. E., . . . Bottani, A. (2010). De novo duplication of
MECP2 in a girl with mental retardation and no obvious dysmorphic
features. Clin Genet, 78(2), 175-180.
doi:10.1111/j.1399-0004.2010.01371.x
Meyer, B. J. (2005). X-Chromosome dosage compensation. WormBook, 1-14.
doi:10.1895/wormbook.1.8.1
Meyer, B. J., McDonel, P., Csankovszki, G., & Ralston, E. (2004). Sex
and X-chromosome-wide repression in Caenorhabditis elegans. Cold Spring
Harb Symp Quant Biol, 69, 71-79. doi:10.1101/sqb.2004.69.71
Nielsen, M. M., Trolle, C., Vang, S., Hornshoj, H., Skakkebaek, A.,
Hedegaard, J., . . . Gravholt, C. H. (2020). Epigenetic and
transcriptomic consequences of excess X-chromosome material in 47,XXX
syndrome-A comparison with Turner syndrome and 46,XX females. Am J Med
Genet C Semin Med Genet, 184(2), 279-293. doi:10.1002/ajmg.c.31799
Novara, F., Simonati, A., Sicca, F., Battini, R., Fiori, S., Contaldo,
A., . . . Ciccone, R. (2014). MECP2 duplication phenotype in symptomatic
females: report of three further cases. Mol Cytogenet, 7(1), 10.
doi:10.1186/1755-8166-7-10
Orstavik, K. H. (2009). X chromosome inactivation in clinical practice.
Hum Genet, 126(3), 363-373. doi:10.1007/s00439-009-0670-5
Prestel, M., Feller, C., & Becker, P. B. (2010). Dosage compensation
and the global re-balancing of aneuploid genomes. Genome Biol, 11(8),
216. doi:10.1186/gb-2010-11-8-216
Przanowski, P., Wasko, U., Zheng, Z., Yu, J., Sherman, R., Zhu, L. J., .
. . Bhatnagar, S. (2018). Pharmacological reactivation of inactive
X-linked Mecp2 in cerebral cortical neurons of living mice. Proc Natl
Acad Sci U S A, 115(31), 7991-7996. doi:10.1073/pnas.1803792115
Ramocki, M. B., Peters, S. U., Tavyev, Y. J., Zhang, F., Carvalho, C.
M., Schaaf, C. P., . . . Zoghbi, H. Y. (2009). Autism and other
neuropsychiatric symptoms are prevalent in individuals with MeCP2
duplication syndrome. Ann Neurol, 66(6), 771-782. doi:10.1002/ana.21715
Ramocki, M. B., & Zoghbi, H. Y. (2008). Failure of neuronal homeostasis
results in common neuropsychiatric phenotypes. Nature, 455(7215),
912-918. doi:10.1038/nature07457
Reardon, W., Donoghue, V., Murphy, A. M., King, M. D., Mayne, P. D.,
Horn, N., & Birk Moller, L. (2010). Progressive cerebellar degenerative
changes in the severe mental retardation syndrome caused by duplication
of MECP2 and adjacent loci on Xq28. Eur J Pediatr, 169(8), 941-949.
doi:10.1007/s00431-010-1144-4
Scherzer, C. R., Eklund, A. C., Morse, L. J., Liao, Z., Locascio, J. J.,
Fefer, D., . . . Gullans, S. R. (2007). Molecular markers of early
Parkinson’s disease based on gene expression in blood. Proc Natl Acad
Sci U S A, 104(3), 955-960. doi:10.1073/pnas.0610204104
Scott Schwoerer, J., Laffin, J., Haun, J., Raca, G., Friez, M. J., &
Giampietro, P. F. (2014). MECP2 duplication: possible cause of severe
phenotype in females. Am J Med Genet A, 164A(4), 1029-1034.
doi:10.1002/ajmg.a.36380
Shimada, S., Okamoto, N., Ito, M., Arai, Y., Momosaki, K., Togawa, M., .
. . Yamamoto, T. (2013). MECP2 duplication syndrome in both genders.
Brain Dev, 35(5), 411-419. doi:10.1016/j.braindev.2012.07.010
Sun, L., Johnson, A. F., Donohue, R. C., Li, J., Cheng, J., & Birchler,
J. A. (2013). Dosage compensation and inverse effects in triple X
metafemales of Drosophila. Proc Natl Acad Sci U S A, 110(18), 7383-7388.
doi:10.1073/pnas.1305638110
Sun, Y., Luo, Y., Qian, Y., Chen, M., Wang, L., Li, H., . . . Dong, M.
(2019). Heterozygous Deletion of the SHOX Gene Enhancer in two Females
With Clinical Heterogeneity Associating With Skewed XCI and Escaping
XCI. Front Genet, 10, 1086. doi:10.3389/fgene.2019.01086
Swierczek, S. I., Piterkova, L., Jelinek, J., Agarwal, N., Hammoud, S.,
Wilson, A., . . . Prchal, J. T. (2012). Methylation of AR locus does not
always reflect X chromosome inactivation state. Blood, 119(13),
e100-109. doi:10.1182/blood-2011-11-390351
Tukiainen, T., Villani, A. C., Yen, A., Rivas, M. A., Marshall, J. L.,
Satija, R., . . . MacArthur, D. G. (2017). Landscape of X chromosome
inactivation across human tissues. Nature, 550(7675), 244-248.
doi:10.1038/nature24265
Van Esch, H. (1993). MECP2 Duplication Syndrome. In M. P. Adam, H. H.
Ardinger, R. A. Pagon, S. E. Wallace, L. J. H. Bean, K. Stephens, & A.
Amemiya (Eds.), GeneReviews((R)). Seattle (WA).
Van Esch, H., Bauters, M., Ignatius, J., Jansen, M., Raynaud, M.,
Hollanders, K., . . . Froyen, G. (2005). Duplication of the MECP2 region
is a frequent cause of severe mental retardation and progressive
neurological symptoms in males. Am J Hum Genet, 77(3), 442-453.
doi:10.1086/444549
Xiol, C., Vidal, S., Pascual-Alonso, A., Blasco, L., Brandi, N.,
Pacheco, P., . . . Rett Working, G. (2019). X chromosome inactivation
does not necessarily determine the severity of the phenotype in Rett
syndrome patients. Sci Rep, 9(1), 11983. doi:10.1038/s41598-019-48385-w
Zito, A., Davies, M. N., Tsai, P. C., Roberts, S., Andres-Ejarque, R.,
Nardone, S., . . . Small, K. S. (2019). Heritability of skewed
X-inactivation in female twins is tissue-specific and associated with
age. Nat Commun, 10(1), 5339. doi:10.1038/s41467-019-13340-w