Search Page
Save citations to file
Email citations
Send citations to clipboard
Add to Collections
Add to My Bibliography
Create a file for external citation management software
Your saved search
Your RSS Feed
Filters
Results by year
Table representation of search results timeline featuring number of search results per year.
Year | Number of Results |
---|---|
2000 | 1 |
2023 | 1 |
2024 | 1 |
Search Results
2 results
Results by year
Filters applied: . Clear all
Quoted phrase not found in phrase index: "Rubinstein-Taybi syndrome due to 16p13.3 microdeletion"
Page 1
Molecular insight into CREBBP and TANGO2 variants causing intellectual disability.
J Gene Med. 2024 Jan;26(1):e3591. doi: 10.1002/jgm.3591. Epub 2023 Sep 18.
J Gene Med. 2024.
PMID: 37721116
BACKGROUND: Intellectual disability (ID) can be associated with different syndromes such as Rubinstein-Taybi syndrome (RSTS) and can also be related to conditions such as metabolic encephalomyopathic crises, recurrent,with rhabdomyolysis, cardiac arrhythmias …
BACKGROUND: Intellectual disability (ID) can be associated with different syndromes such as Rubinstein-Taybi syndrome ( …
Variation in microdeletions of the cyclic AMP-responsive element-binding protein gene at chromosome band 16p13.3 in the Rubinstein-Taybi syndrome.
Blough RI, Petrij F, Dauwerse JG, Milatovich-Cherry A, Weiss L, Saal HM, Rubinstein JH.
Blough RI, et al.
Am J Med Genet. 2000 Jan 3;90(1):29-34. doi: 10.1002/(sici)1096-8628(20000103)90:1<29::aid-ajmg6>3.0.co;2-z.
Am J Med Genet. 2000.
PMID: 10602114
Most reported microdeletions of the CREB-binding protein (CBP) gene in the Rubinstein-Taybi syndrome (RTS) were detected by fluorescence in situ hybridization (FISH) with a single cosmid probe specific to the 3' region of the gene. ...No phenotypic dif …
Most reported microdeletions of the CREB-binding protein (CBP) gene in the Rubinstein-Taybi syndrome (RTS) were …
Item in Clipboard
Cite
Cite