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
2009 1
2010 1
2011 1
2012 1
2013 1
2021 1
2024 0

Text availability

Article attribute

Article type

Publication date

Search Results

5 results

Results by year

Filters applied: . Clear all
Page 1
Kabuki Syndrome-Clinical Review with Molecular Aspects.
Boniel S, Szymańska K, Śmigiel R, Szczałuba K. Boniel S, et al. Genes (Basel). 2021 Mar 25;12(4):468. doi: 10.3390/genes12040468. Genes (Basel). 2021. PMID: 33805950 Free PMC article. Review.
De novo or inherited pathogenic/likely pathogenic variants in the KMT2D gene are the most common cause of KS and account for up to 75% of patients. Variants in KDM6A cause up to 5% of cases (X-linked dominant inheritance), while the etiology of about 20% of cases re …
De novo or inherited pathogenic/likely pathogenic variants in the KMT2D gene are the most common cause of KS and account for up to 75% of pa …
Seizures and X-linked intellectual disability.
Stevenson RE, Holden KR, Rogers RC, Schwartz CE. Stevenson RE, et al. Eur J Med Genet. 2012 May;55(5):307-12. doi: 10.1016/j.ejmg.2012.01.017. Epub 2012 Feb 8. Eur J Med Genet. 2012. PMID: 22377486 Free PMC article. Review.
Intellectual disability occurs as an isolated X-linked trait and as a component of recognizable X-linked syndromes in the company of somatic, metabolic, neuromuscular, or behavioral abnormalities. Seizures accompany intellectual
Intellectual disability occurs as an isolated X-linked trait and as a component of recognizable X-link
X-linked adrenoleukodystrophy: diagnostic and follow-up system in Japan.
Shimozawa N, Honda A, Kajiwara N, Kozawa S, Nagase T, Takemoto Y, Suzuki Y. Shimozawa N, et al. J Hum Genet. 2011 Feb;56(2):106-9. doi: 10.1038/jhg.2010.139. Epub 2010 Nov 11. J Hum Genet. 2011. PMID: 21068741 Review.
X-linked adrenoleukodystrophy (ALD) is an intractable neurodegenerative disease associated with the accumulation of very long-chain saturated fatty acids (VLCFA) in tissues and body fluids. ...
X-linked adrenoleukodystrophy (ALD) is an intractable neurodegenerative disease associated with the accumulation of very long-
Nutritional factors in a mouse model of Rett syndrome.
Nag N, Ward B, Berger-Sweeney JE. Nag N, et al. Neurosci Biobehav Rev. 2009 Apr;33(4):586-92. doi: 10.1016/j.neubiorev.2008.03.007. Epub 2008 Apr 3. Neurosci Biobehav Rev. 2009. PMID: 18479749 Review.
Environmental factors such as nutrition and housing can influence behavioral and anatomical characteristics of several neurological disorders, including Rett syndrome (RTT). RTT is associated with mutations in the X-linked gene encoding MeCP2, a transcriptional repr …
Environmental factors such as nutrition and housing can influence behavioral and anatomical characteristics of several neurological disorder …
Genetics of non-syndromic autosomal recessive mental retardation.
Afroze B, Chaudhry B. Afroze B, et al. J Pak Med Assoc. 2013 Jan;63(1):106-10. J Pak Med Assoc. 2013. PMID: 23865144 Review.
Non-syndromic mental retardation is one of the most serious neurodevelopmental disorders, which has a serious impact not only on the affected individuals and their families but also on the health care system and society. Previously research has been more focused on the X- …
Non-syndromic mental retardation is one of the most serious neurodevelopmental disorders, which has a serious impact not only on the affecte …