Last Updated: 09/26/2026
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Found 11 publications
NK cell defects in X-linked pigmentary reticulate disorder.
Journal: JCI insight
Published: October 25, 2018
Y chromosome gene copy number and lack of autism phenotype in a male with an isodicentric Y chromosome and absent NLGN4Y expression.
Journal: American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics
Published: September 18, 2018
Sex-chromosome dosage effects on gene expression in humans.
Journal: Proceedings of the National Academy of Sciences of the United States of America
Published: June 28, 2018
Evolution of the skin manifestations of X-linked pigmentary reticulate disorder.
Journal: The British journal of dermatology
Published: April 14, 2017
Identification of 15 novel partial SHOX deletions and 13 partial duplications, and a review of the literature reveals intron 3 to be a hotspot region.
Journal: Journal of human genetics
Published: June 06, 2016
DNA polymerase-α regulates the activation of type I interferons through cytosolic RNA:DNA synthesis.
DNA polymerase-α regulates the activation of type I interferons through cytosolic RNA:DNA synthesis.
Journal: Nature immunology
Published: September 25, 2015
Sim1 inhibits bone formation by enhancing the sympathetic tone in male mice.
Journal: Endocrinology
Published: January 22, 2015
Behavioral phenotypes in males with XYY and possible role of increased NLGN4Y expression in autism features.
Journal: Genes, brain, and behavior
Published: October 20, 2014
Inducible neuronal inactivation of Sim1 in adult mice causes hyperphagic obesity.
Journal: Endocrinology
Published: April 30, 2014
Screening and familial characterization of copy-number variations in NR5A1 in 46,XY disorders of sex development and premature ovarian failure.
Journal: American journal of medical genetics. Part A
Published: November 15, 2012
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Last Updated: 09/26/2026