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South African Medical Journal, 2014 A 35-year-old man presented with symmetrical inflammatory polyarthritis of the small and large joints and associated early-morning stiffness. He was assessed as having features in keeping with Klinefelter’s syndrome. It is evident from the literature that there is a relationship between Klinefelter’s syndrome and developing rheumatic conditions.
M C Madua
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Prenatal diagnosis and clinical evaluation of fetuses with structural X chromosome abnormalities: a ten-year single-center retrospective study [PDF]
BMC Medical GenomicsBackground Structural X chromosome abnormalities are rare conditions and pose great challenges in prenatal genetic counseling. The present study aimed to identify and investigate the pregnancy outcome of fetuses with X chromosome structural abnormalities
Lixian Zhang +4 more
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Demasculinization of the
BMC Evolutionary Biology, 2012 Background In a number of organisms sex-biased genes are non-randomly distributed between autosomes and the shared sex chromosome X (or Z). Studies on Anopheles gambiae have produced conflicting results regarding the underrepresentation of male-biased ...
Magnusson Kalle +6 more
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The human inactive X chromosome modulates expression of the active X chromosome
Cell Genomics, 2023 Summary: The “inactive” X chromosome (Xi) has been assumed to have little impact, in trans, on the “active” X (Xa). To test this, we quantified Xi and Xa gene expression in individuals with one Xa and zero to three Xis.
Adrianna K. San Roman +21 more
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Assessment of external risk factors of hepatocellular cancer development and markers of genetic predisposition to its development in the ethnic group of yakut - men [PDF]
Терапевтический архив, 2020 Aim. To establish the main external and genetically determined risk factors for the development of hepatocellular cancer in the ethnic group of male Yakuts living in the Republic of Sakha (Yakutia) [RS (Y)] in the epidemiologically unfavorable conditions
N D Yushchuk +8 more
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A ROLE FOR CELLULAR IMMUNITY IN EARLY POSTPARTUM PERIOD
Медицинская иммунология, 2021 The functioning of the secretory organs is closely related to the activity of the immune system. As is well known, this participation is manifested in the fact that at certain stages of activity, the lymphoid cells migrating to the organ can be involved ...
N. A. Panova, V. G. Skopichev
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Frontiers in Genetics, 2021 Altered microRNA expression patterns in bronchial brushings from people with versus without cystic fibrosis (CF) relate to functional changes and disease pathophysiology.
Paul J. McKiernan +4 more
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Association of Parental Origin with Clinical Profile in Klinefelter Syndrome [PDF]
Journal of Clinical and Diagnostic Research, 2015 Introduction: Several genomic imprinting mechanisms have been postulated to report the parent-of-origin in Klinefelter syndrome. It was stated in the literature, parental origin has an effect on behavioral phenotype of Klinefelter individuals, but the
Ranganath Vallabhajosyula +2 more
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Association of X Chromosome Aberrations with Male Infertility
Acta Medica Bulgarica, 2021 Male infertility is caused by spermatogenetic failure, clinically noted as oligoor azoospermia. Approximately 20% of infertile patients carry a genetic defect.
Xharra S. +5 more
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Biophysics and Physicobiology, 2022 X chromosome inactivation center (Xic) pairing occurs during the differentiation of embryonic stem (ES) cells from female mouse embryos, and is related to X chromosome inactivation, the circadian clock, intra-nucleus architecture, and metabolism. However,
Tetsushi Komoto +2 more
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