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
1983 1
1986 1
1988 1
1991 1
1995 2
1998 3
1999 2
2000 2
2001 4
2003 3
2004 1
2007 3
2009 1
2010 1
2011 1
2012 2
2013 1
2014 4
2015 1
2016 1
2017 4
2018 1
2019 3
2020 1
2021 1
2022 1
2023 3
2024 0

Text availability

Article attribute

Article type

Publication date

Search Results

46 results

Results by year

Filters applied: . Clear all
Quoted phrase not found in phrase index: "Intellectual developmental disorder, X-linked 108"
Page 1
Functional abilities in children and adults with the CDKL5 disorder.
Fehr S, Downs J, Ho G, de Klerk N, Forbes D, Christodoulou J, Williams S, Leonard H. Fehr S, et al. Am J Med Genet A. 2016 Nov;170(11):2860-2869. doi: 10.1002/ajmg.a.37851. Epub 2016 Aug 16. Am J Med Genet A. 2016. PMID: 27528505
Our study investigated gross motor, hand function, and expressive communication abilities in individuals with the CDKL5 disorder. Data for 108 females and 16 males registered with the International CDKL5 disorder database and with a pathogenic CDKL5 mutation were analyzed. …
Our study investigated gross motor, hand function, and expressive communication abilities in individuals with the CDKL5 disorder. Data for …
Impaired mitophagy facilitates mitochondrial damage in Danon disease.
Hashem SI, Murphy AN, Divakaruni AS, Klos ML, Nelson BC, Gault EC, Rowland TJ, Perry CN, Gu Y, Dalton ND, Bradford WH, Devaney EJ, Peterson KL, Jones KL, Taylor MRG, Chen J, Chi NC, Adler ED. Hashem SI, et al. J Mol Cell Cardiol. 2017 Jul;108:86-94. doi: 10.1016/j.yjmcc.2017.05.007. Epub 2017 May 16. J Mol Cell Cardiol. 2017. PMID: 28526246
Loss of function mutations in the LAMP-2 gene cause Danon disease, a rare X-linked disorder characterized by developmental delay, skeletal muscle weakness, and severe cardiomyopathy. ...
Loss of function mutations in the LAMP-2 gene cause Danon disease, a rare X-linked disorder characterized by developmental del …
Adrenoleukodystrophy--a new mutation identified.
Vachalova I, Chandoga J, Petrovic R, Copikova-Cudrakova D, Sykora M, Traubner P. Vachalova I, et al. Bratisl Lek Listy. 2007;108(10-11):462-6. Bratisl Lek Listy. 2007. PMID: 18306728
INTRODUCTION: X-linked adrenoleukodystrophy from the group of peroxisomal disorders presents with an extensive spectrum of phenotypes. ...We present a phenotype description of a patient with this mutation. CONCLUSIONS: X-linked adrenoleukodystrophy is …
INTRODUCTION: X-linked adrenoleukodystrophy from the group of peroxisomal disorders presents with an extensive spectrum of phe …
Detecting autonomic response to pain in Rett syndrome.
O'Leary HM, Marschik PB, Khwaja OS, Ho E, Barnes KV, Clarkson TW, Bruck NM, Kaufmann WE. O'Leary HM, et al. Dev Neurorehabil. 2017 Feb;20(2):108-114. doi: 10.3109/17518423.2015.1087437. Epub 2015 Oct 12. Dev Neurorehabil. 2017. PMID: 26457613
Prenatal diagnosis of foetuses with congenital abnormalities and duplication of the MECP2 region.
Fu F, Liu HL, Li R, Han J, Yang X, Min P, Zhen L, Zhang YL, Xie GE, Lei TY, Li Y, Li J, Li DZ, Liao C. Fu F, et al. Gene. 2014 Aug 10;546(2):222-5. doi: 10.1016/j.gene.2014.06.012. Epub 2014 Jun 7. Gene. 2014. PMID: 24914495 Clinical Trial.
In this study, we identified a small duplication comprising the MECP2 and L1CAM genes in the Xq28 region in a patient from a family with severe X-linked mental retardation and in a prenatal foetus with brain structural abnormalities. Using high-resolut …
In this study, we identified a small duplication comprising the MECP2 and L1CAM genes in the Xq28 region in a patient from a family with sev …
46 results