Below are the most recent publications written about "Chromosomes, Human, X" by people in Profiles.
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Pyfrom S, Paneru B, Knox JJ, Cancro MP, Posso S, Buckner JH, Anguera MC. The dynamic epigenetic regulation of the inactive X chromosome in healthy human B cells is dysregulated in lupus patients. Proc Natl Acad Sci U S A. 2021 06 15; 118(24).
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Chanchani SR, Xie H, Sekhon G, Melikishvili AM, Moyer Harasink S, Pall H, Giampietro PF. A male infant with Xq22.2q22.3 duplication containing PLP1 and MID2. Mol Genet Genomic Med. 2020 03; 8(3):e1078.
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Prakash SK, Crenshaw ML, Backeljauw PF, Silberbach M, Scurlock C, Culin DD, Ranallo KC, Lin AE. 45,X mosaicism in a population-based biobank: implications for Turner syndrome. Genet Med. 2019 08; 21(8):1882-1883.
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Yu S, Chen C, Pan Y, Kurz MC, Datner E, Hendry PL, Velilla MA, Lewandowski C, Pearson C, Domeier R, McLean SA, Linnstaedt SD. Genes known to escape X chromosome inactivation predict co-morbid chronic musculoskeletal pain and posttraumatic stress symptom development in women following trauma exposure. Am J Med Genet B Neuropsychiatr Genet. 2019 09; 180(6):415-427.
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Raznahan A, Parikshak NN, Chandran V, Blumenthal JD, Clasen LS, Alexander-Bloch AF, Zinn AR, Wangsa D, Wise J, Murphy DGM, Bolton PF, Ried T, Ross J, Giedd JN, Geschwind DH. Sex-chromosome dosage effects on gene expression in humans. Proc Natl Acad Sci U S A. 2018 07 10; 115(28):7398-7403.
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Prakash SK, Bondy CA, Maslen CL, Silberbach M, Lin AE, Perrone L, Limongelli G, Michelena HI, Bossone E, Citro R, Lemaire SA, Body SC, Milewicz DM. Autosomal and X chromosome structural variants are associated with congenital heart defects in Turner syndrome: The NHLBI GenTAC registry. Am J Med Genet A. 2016 12; 170(12):3157-3164.
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Luo M, Mulchandani S, Dubbs HA, Swarr D, Pyle L, Zackai EH, Spinner NB, Conlin LK. Detection of mutually exclusive mosaicism in a girl with genotype-phenotype discrepancies. Am J Med Genet A. 2015 Dec; 167A(12):3091-5.
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de Leeuw N, Bulk S, Green A, Jaeckle-Santos L, Baker LA, Zinn AR, Kleefstra T, van der Smagt JJ, Vianne Morgante AM, de Vries BB, van Bokhoven H, de Brouwer AP. UBE2A deficiency syndrome: Mild to severe intellectual disability accompanied by seizures, absent speech, urogenital, and skin anomalies in male patients. Am J Med Genet A. 2010 Dec; 152A(12):3084-90.
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Parva M, Donnenfeld AE, Gerson A. Trizygotic dichorionic triplets with 46,XX/46,XY chimerism in both fetuses of the monochorionic pair. Prenat Diagn. 2009 Nov; 29(11):1091-3.
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Ross JL, Zeger MP, Kushner H, Zinn AR, Roeltgen DP. An extra X or Y chromosome: contrasting the cognitive and motor phenotypes in childhood in boys with 47,XYY syndrome or 47,XXY Klinefelter syndrome. Dev Disabil Res Rev. 2009; 15(4):309-17.