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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1994 1
2004 1
2008 1
2009 2
2010 1
2011 2
2014 2
2015 2
2016 1
2017 2
2019 1
2020 1
2023 1
2024 0

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17 results

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Page 1
Epilepsy and the new cytogenetics.
Mulley JC, Mefford HC. Mulley JC, et al. Epilepsia. 2011 Mar;52(3):423-32. doi: 10.1111/j.1528-1167.2010.02932.x. Epub 2011 Jan 26. Epilepsia. 2011. PMID: 21269290 Free PMC article. Review.
The most common of the recurrent microdeletions associated with generalized epilepsy are typically seen at a frequency of 1% at 15q13.3, 16p13.11, and 15q11.2, sites that also confer susceptibility for intellectual disability, autism, and schizophrenia. Incomplete p …
The most common of the recurrent microdeletions associated with generalized epilepsy are typically seen at a frequency of 1% at 15q13.3, 16p …
Comprehensive systematic review and meta-analysis of the association between common genetic variants and autism spectrum disorder.
Fang Y, Cui Y, Yin Z, Hou M, Guo P, Wang H, Liu N, Cai C, Wang M. Fang Y, et al. Gene. 2023 Dec 15;887:147723. doi: 10.1016/j.gene.2023.147723. Epub 2023 Aug 18. Gene. 2023. PMID: 37598788 Review.
BACKGROUND: Autism spectrum disorder (ASD) is neurodevelopmental disorder characterized by stereotyped behavior and deficits in communication and social interactions. ...Our study provides novel clues to clinicians and healthcare decision-makers to predict AS …
BACKGROUND: Autism spectrum disorder (ASD) is neurodevelopmental disorder characterized by stereotyped behavior and def …
Metabolomics of autism spectrum disorders: early insights regarding mammalian-microbial cometabolites.
Mussap M, Noto A, Fanos V. Mussap M, et al. Expert Rev Mol Diagn. 2016 Aug;16(8):869-81. doi: 10.1080/14737159.2016.1202765. Epub 2016 Jun 30. Expert Rev Mol Diagn. 2016. PMID: 27310602 Review.
AREAS COVERED: We overhauled the value of either targeted or untargeted metabolomics studies in autism for identifying the most relevant metabolic pathways and key metabolites implicated in the disease, with special emphasis to mammalian-microbial metabolites. ...Ex …
AREAS COVERED: We overhauled the value of either targeted or untargeted metabolomics studies in autism for identifying the most relev …
Lifetime stress experience: transgenerational epigenetics and germ cell programming.
Bale TL. Bale TL. Dialogues Clin Neurosci. 2014 Sep;16(3):297-305. doi: 10.31887/DCNS.2014.16.3/tbale. Dialogues Clin Neurosci. 2014. PMID: 25364281 Free PMC article. Review.
Epidemiological studies suggest that gestational exposures to environmental factors including stress are strongly associated with an increased risk of neurodevelopmental disorders, including attention deficit-hyperactivity disorder, schizophrenia, and autism spectru …
Epidemiological studies suggest that gestational exposures to environmental factors including stress are strongly associated with an increas …
Autism genetics: strategies, challenges, and opportunities.
O'Roak BJ, State MW. O'Roak BJ, et al. Autism Res. 2008 Feb;1(1):4-17. doi: 10.1002/aur.3. Autism Res. 2008. PMID: 19360646 Review.
Although genes have long been appreciated to play a critical role in determining the risk for pervasive developmental disorders, the specific transcripts contributing to autism spectrum disorders (ASD) have been quite difficult to characterize. ...We review the current lit …
Although genes have long been appreciated to play a critical role in determining the risk for pervasive developmental disorders, the specifi …
Syndromic autism: causes and pathogenetic pathways.
Benvenuto A, Moavero R, Alessandrelli R, Manzi B, Curatolo P. Benvenuto A, et al. World J Pediatr. 2009 Aug;5(3):169-76. doi: 10.1007/s12519-009-0033-2. Epub 2009 Aug 20. World J Pediatr. 2009. PMID: 19693459 Review.
BACKGROUND: Autism is a severe neurodevelopmental disorder known to have many different etiologies. ...DATA SOURCES: The PubMed database was searched with the keywords "autism" and "chromosomal abnormalities", "metabolic diseases", "susceptibility loci …
BACKGROUND: Autism is a severe neurodevelopmental disorder known to have many different etiologies. ...DATA SOURCES: The PubMe …
The Plasma Membrane Calcium ATPases and Their Role as Major New Players in Human Disease.
Stafford N, Wilson C, Oceandy D, Neyses L, Cartwright EJ. Stafford N, et al. Physiol Rev. 2017 Jul 1;97(3):1089-1125. doi: 10.1152/physrev.00028.2016. Physiol Rev. 2017. PMID: 28566538 Free article. Review.
Over recent years it has become increasingly apparent that these genes have potentially significant roles in human health and disease, with PMCAs1-4 being associated with cardiovascular diseases, deafness, autism, ataxia, adenoma, and malarial resistance. This revie …
Over recent years it has become increasingly apparent that these genes have potentially significant roles in human health and disease …
A review of candidate urinary biomarkers for autism spectrum disorder.
Wang L, Angley MT, Gerber JP, Sorich MJ. Wang L, et al. Biomarkers. 2011 Nov;16(7):537-52. doi: 10.3109/1354750X.2011.598564. Biomarkers. 2011. PMID: 22022826 Review.
CONTEXT: Autism is a complex, heterogeneous neurodevelopmental condition with a strong genetic component potentially impacted by various environmental factors influencing susceptibility. There are no reliable laboratory tests available to confirm an autism di …
CONTEXT: Autism is a complex, heterogeneous neurodevelopmental condition with a strong genetic component potentially impacted by vari …
Modulation of the genome and epigenome of individuals susceptible to autism by environmental risk factors.
Koufaris C, Sismani C. Koufaris C, et al. Int J Mol Sci. 2015 Apr 20;16(4):8699-718. doi: 10.3390/ijms16048699. Int J Mol Sci. 2015. PMID: 25903146 Free PMC article. Review.
Diverse environmental factors have been implicated with the development of autism spectrum disorders (ASD). Genetic factors also underlie the differential vulnerability to environmental risk factors of susceptible individuals. ...A greater understanding of the metab …
Diverse environmental factors have been implicated with the development of autism spectrum disorders (ASD). Genetic factors also unde …
When and how does one search for inborn errors of purine and pyrimidine metabolism?
Simmonds HA. Simmonds HA. Pharm World Sci. 1994 Apr 15;16(2):139-48. doi: 10.1007/BF01880664. Pharm World Sci. 1994. PMID: 8032339 Review.
These disorders should be suspected, particularly where the history involves siblings, in anaemia, susceptibility to infection, or neurological deficits including autism, delayed development, epilepsy, self-mutilation, muscle weakness and - unusual in children and a …
These disorders should be suspected, particularly where the history involves siblings, in anaemia, susceptibility to infection, or ne …
17 results