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Nonsyndromic types of ichthyoses - an update.
Traupe H, Fischer J, Oji V. Traupe H, et al. J Dtsch Dermatol Ges. 2014 Feb;12(2):109-21. doi: 10.1111/ddg.12229. Epub 2013 Oct 11. J Dtsch Dermatol Ges. 2014. PMID: 24119255 Free article. Review.
It is associated with a higher risk for the development of atopic diseases, such as atopic eczema and allergic rhinitis. Recessive X-linked ichthyosis (RXLI) occurs almost exclusively in boys; in Germany it has a prevalence of around 1:4,000. It is caused by steroid …
It is associated with a higher risk for the development of atopic diseases, such as atopic eczema and allergic rhinitis. Recessive X- …
Genetic causes of syndromic and non-syndromic autism.
Caglayan AO. Caglayan AO. Dev Med Child Neurol. 2010 Feb;52(2):130-8. doi: 10.1111/j.1469-8749.2009.03523.x. Epub 2010 Jan 5. Dev Med Child Neurol. 2010. PMID: 20059518 Free article. Review.
RESULTS: Based on this knowledge, practical information is offered to help clinicians pursue targeted genetic testing of individuals with autism whose clinical phenotype is suggestive of a specific genetic or genomic aetiology. INTERPRETATION: Comprehensive research into t …
RESULTS: Based on this knowledge, practical information is offered to help clinicians pursue targeted genetic testing of individuals with …
Fragile X syndrome and connective tissue dysregulation.
Ramírez-Cheyne JA, Duque GA, Ayala-Zapata S, Saldarriaga-Gil W, Hagerman P, Hagerman R, Payán-Gómez C. Ramírez-Cheyne JA, et al. Clin Genet. 2019 Feb;95(2):262-267. doi: 10.1111/cge.13469. Epub 2018 Nov 27. Clin Genet. 2019. PMID: 30414172 Review.
Fragile X syndrome (FXS) is the most common cause of inherited intellectual disabilities and autism spectrum disorders, and it is an X-linked disorder in which there is a deficiency of the fragile X mental retardation 1 protein. ...
Fragile X syndrome (FXS) is the most common cause of inherited intellectual disabilities and autism spectrum disorders, and it is an …
Autism-lessons from the X chromosome.
Marco EJ, Skuse DH. Marco EJ, et al. Soc Cogn Affect Neurosci. 2006 Dec;1(3):183-93. doi: 10.1093/scan/nsl028. Soc Cogn Affect Neurosci. 2006. PMID: 18985105 Free PMC article. Review.
Evidence suggests that genetic influences from the X chromosome play a crucial role in engendering this male vulnerability. In this review, we discuss three categories of genetic disease that highlight the importance of X-linked genes in the manifestat …
Evidence suggests that genetic influences from the X chromosome play a crucial role in engendering this male vulnerability. In this review, …
Male gender bias in autism and pediatric autoimmunity.
Becker KG. Becker KG. Autism Res. 2012 Apr;5(2):77-83. doi: 10.1002/aur.1227. Epub 2012 Mar 17. Autism Res. 2012. PMID: 22431266 Free PMC article. Review.
Male bias in both autism and pediatric autoimmune disease is thought to involve hormonal perturbations in pregnancy or early childhood in the context of genetic control. ...It is suggested here that these early regulatory events may overlap between autism and …
Male bias in both autism and pediatric autoimmune disease is thought to involve hormonal perturbations in pregnancy or early c …
Glial Dysfunction in MeCP2 Deficiency Models: Implications for Rett Syndrome.
Kahanovitch U, Patterson KC, Hernandez R, Olsen ML. Kahanovitch U, et al. Int J Mol Sci. 2019 Aug 5;20(15):3813. doi: 10.3390/ijms20153813. Int J Mol Sci. 2019. PMID: 31387202 Free PMC article. Review.
Rett syndrome (RTT) is a rare, X-linked neurodevelopmental disorder typically affecting females, resulting in a range of symptoms including autistic features, intellectual impairment, motor deterioration, and autonomic abnormalities. RTT is primarily c …
Rett syndrome (RTT) is a rare, X-linked neurodevelopmental disorder typically affecting females, resulting in a range o …
The role of the urokinase receptor in epilepsy, in disorders of language, cognition, communication and behavior, and in the central nervous system.
Bruneau N, Szepetowski P. Bruneau N, et al. Curr Pharm Des. 2011;17(19):1914-23. doi: 10.2174/138161211796718198. Curr Pharm Des. 2011. PMID: 21711233 Review.
In the mouse, the knock-out of the Upar-encoding gene (Plaur) leads to significant and nearly complete loss in parvalbumin-containing interneurons during brain development. This is associated with increased susceptibility to spontaneous and chemically-induced seizures and …
In the mouse, the knock-out of the Upar-encoding gene (Plaur) leads to significant and nearly complete loss in parvalbumin-containing intern …