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
2008 1
2014 1
2024 0

Text availability

Article attribute

Article type

Publication date

Search Results

2 results

Results by year

Filters applied: . Clear all
Page 1
MID1 mutations in patients with X-linked Opitz G/BBB syndrome.
Fontanella B, Russolillo G, Meroni G. Fontanella B, et al. Hum Mutat. 2008 May;29(5):584-94. doi: 10.1002/humu.20706. Hum Mutat. 2008. PMID: 18360914
However, although a specific mutation cannot entirely account for the observed phenotype, we observed preferential association between some types of mutation and specific clinical manifestations, e.g., brain anatomical defects and truncating mutations. ...
However, although a specific mutation cannot entirely account for the observed phenotype, we observed preferential association …
Prenatal diagnosis of maternally inherited X-linked Opitz G/BBB syndrome by chromosomal microarray in a fetus with complex congenital heart disease.
Cheng YK, Huang J, Law KM, Chan YM, Leung TY, Choy KW. Cheng YK, et al. Clin Chim Acta. 2014 Sep 25;436:140-2. doi: 10.1016/j.cca.2014.05.006. Epub 2014 May 23. Clin Chim Acta. 2014. PMID: 24863803
RESULTS: Fetal DNA chip revealed a 48Kb single copy number loss within chromosome region Xp22.2 (arr[hg18]Xp22.2(10,627,354-10,675,946)x0 mat). This deletion included the 3' UTR region of the MID1 gene predicted to cause the X-linked Opitz G/ …
RESULTS: Fetal DNA chip revealed a 48Kb single copy number loss within chromosome region Xp22.2 (arr[hg18]Xp22.2(10,627,354-10,675,946)x0 ma …