Transcriptome profiling of fetal Klinefelter testis tissue reveals a possible involvement of long non-coding RNAs in gonocyte maturation
Sign Up to like & getrecommendations! Published in 2018 at "Human Molecular Genetics"
DOI: 10.1093/hmg/ddx411
Abstract: In humans, the most common sex chromosomal disorder is Klinefelter syndrome (KS), caused by the presence of one or more extra X-chromosomes. KS patients display a varying adult phenotype but usually present with azoospermia due… read more here.
Keywords: pre spermatogonia; testis; coding rnas; long non ... See more keywords
Visual loss and optic neuropathy in a patient with Klinefelter’s syndrome, open-angle glaucoma, vitamin B12 (cobalamin) and folate deficiency
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DOI: 10.1136/bcr-2021-244373
Abstract: A 54-year-old man with Klinefelter’s syndrome presented to the neuro-ophthalmology clinic with progressive painless visual blurring in the right eye over 2 years. He was receiving intramuscular testosterone therapy for hypogonadism and hypromellose for dry… read more here.
Keywords: loss; folate; vitamin b12; klinefelter ... See more keywords
Reversal Learning Performance in the XY∗ Mouse Model of Klinefelter and Turner Syndromes
Sign Up to like & getrecommendations! Published in 2019 at "Frontiers in Behavioral Neuroscience"
DOI: 10.3389/fnbeh.2019.00201
Abstract: Klinefelter syndrome (KS; 47, XXY) and Turner syndrome (TS; 45, XO) are caused by two relatively common sex chromosome aneuploidies. These conditions are associated with an increased odds of neuropsychiatric disorders, including attention deficit/hyperactivity disorder… read more here.
Keywords: klinefelter; turner; xxy; model ... See more keywords