Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My NCBI Filters

Results by year

Table representation of search results timeline featuring number of search results per year.

Year Number of Results
2010 1
2020 1
2024 0

Text availability

Article attribute

Article type

Publication date

Search Results

2 results

Results by year

Filters applied: . Clear all
Page 1
Dysregulated expression of androgen metabolism genes and genetic analysis in hypospadias.
Chen Z, Lin X, Wang Y, Xie H, Chen F. Chen Z, et al. Mol Genet Genomic Med. 2020 Aug;8(8):e1346. doi: 10.1002/mgg3.1346. Epub 2020 Jun 8. Mol Genet Genomic Med. 2020. PMID: 32515122 Free PMC article.

RESULTS: The average expression of androgen receptor (AR) and CYP19A1 were significantly decreased in severe hypospadias (p < .01) and mild hypospadias (p < .05), whereas expression of several other androgen metabolism enzymes, including CYP3A4, HSD17B14, HSD3B7, HSD17B7, C

…

RESULTS: The average expression of androgen receptor (AR) and CYP19A1 were significantly decreased in severe hypospadias (p < .01) and mi

…
UBE2A deficiency syndrome: Mild to severe intellectual disability accompanied by seizures, absent speech, urogenital, and skin anomalies in male patients.
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. de Leeuw N, et al. Am J Med Genet A. 2010 Dec;152A(12):3084-90. doi: 10.1002/ajmg.a.33743. Am J Med Genet A. 2010. PMID: 21108393
We describe three patients with a comparable deletion encompassing SLC25A43, SLC25A5, CXorf56, UBE2A, NKRF, and two non-coding RNA genes, U1 and LOC100303728. ...Notably, all five patients with an Xq24 deletion have ventricular septal defects that are not present in patien …
We describe three patients with a comparable deletion encompassing SLC25A43, SLC25A5, CXorf56, UBE2A, NKRF, and two non-coding RNA ge …