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
1980 1
1999 1
2014 1
2015 1
2024 0

Text availability

Article attribute

Article type

Publication date

Search Results

3 results

Results by year

Filters applied: . Clear all
Page 1
[Neurocognitive and psychiatric management of the 22q11.2 deletion syndrome].
Demily C, Rossi M, Schneider M, Edery P, Leleu A, d'Amato T, Franck N, Eliez S. Demily C, et al. Encephale. 2015 Jun;41(3):266-73. doi: 10.1016/j.encep.2014.10.005. Epub 2014 Dec 16. Encephale. 2015. PMID: 25523123 Review. French.
INTRODUCTION: The 22q11.2 deletion syndrome (22q11.2DS) is caused by hemizygous microdeletions on chromosome 22. 22q11.2DS has several presentations including Di George's syndrome, velo-cardio-facial syndrome or Shprintzen's syndrome and it is the most frequent microdeletion synd …
INTRODUCTION: The 22q11.2 deletion syndrome (22q11.2DS) is caused by hemizygous microdeletions on chromosome 22. 22q11.2DS has several prese …
Nonspecific X-linked mental retardation I: a review with information from 24 new families.
Herbst DS. Herbst DS. Am J Med Genet. 1980;7(4):443-60. doi: 10.1002/ajmg.1320070406. Am J Med Genet. 1980. PMID: 7011032 Review.
Clinical manifestations and other aspects of nonspecific X-linked mental retardation are reviewed using data from the literature and information on affected males in 24 new families ascertained in British Columbia. A great degree of variability was apparent in the mental a …
Clinical manifestations and other aspects of nonspecific X-linked mental retardation are reviewed using data from the literature and informa …
[Clinical sequelae of mutation of the CBP gene].
Smardová J, Smarda J. Smardová J, et al. Cas Lek Cesk. 1999 Dec 13;138(24):739-43. Cas Lek Cesk. 1999. PMID: 10746038 Review. Czech.
It modifies the process of transcription stimulated by these factors by specific binding to RNA polymerase II holoenzyme or by histone acetylation. CBP gene mutation is the molecular cause of autosomal dominant genetic disease called Rubinstein-Taybi syndrome that i …
It modifies the process of transcription stimulated by these factors by specific binding to RNA polymerase II holoenzyme or by histone acety …