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Results by year

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

Year Number of Results
1964 1
1968 2
1969 1
1975 2
1976 3
1977 1
1978 2
1980 3
1981 2
1982 5
1983 2
1984 5
1985 8
1986 5
1987 15
1988 10
1989 19
1990 20
1991 20
1992 20
1993 29
1994 22
1995 33
1996 16
1997 25
1998 29
1999 33
2000 29
2001 42
2002 26
2003 35
2004 36
2005 36
2006 37
2007 43
2008 35
2009 36
2010 55
2011 55
2012 59
2013 84
2014 74
2015 77
2016 97
2017 82
2018 86
2019 84
2020 92
2021 107
2022 77
2023 81
2024 22

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Search Results

1,632 results

Results by year

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Page 1
Phenylketonuria.
Blau N, van Spronsen FJ, Levy HL. Blau N, et al. Lancet. 2010 Oct 23;376(9750):1417-27. doi: 10.1016/S0140-6736(10)60961-0. Lancet. 2010. PMID: 20971365 Review.
Phenotypes can vary from a very mild increase in blood phenylalanine concentrations to a severe classic phenotype with pronounced hyperphenylalaninaemia, which, if untreated, results in profound and irreversible mental disability. ...
Phenotypes can vary from a very mild increase in blood phenylalanine concentrations to a severe classic phenotype with pronounced hyp …
Calcium channelopathies and intellectual disability: a systematic review.
Kessi M, Chen B, Peng J, Yan F, Yang L, Yin F. Kessi M, et al. Orphanet J Rare Dis. 2021 May 13;16(1):219. doi: 10.1186/s13023-021-01850-0. Orphanet J Rare Dis. 2021. PMID: 33985586 Free PMC article. Review.
Nevertheless, the relationship between calcium channelopathies (CCs) and intellectual disability (ID)/global developmental delay (GDD) has been poorly investigated. ...CACNA1E, CACNA1G, CACNA1F, CACNA2D2 and CACNA1A associated with more severe phenotype. Furt …
Nevertheless, the relationship between calcium channelopathies (CCs) and intellectual disability (ID)/global developmental del …
Cognitive functioning in children with cerebral palsy.
Stadskleiv K. Stadskleiv K. Dev Med Child Neurol. 2020 Mar;62(3):283-289. doi: 10.1111/dmcn.14463. Epub 2020 Jan 9. Dev Med Child Neurol. 2020. PMID: 32010976 Free article. Review.
There were few studies with a representative sample of children with CP where all participants were individually assessed. Cognitive functioning in children with the most severe motor impairments were often assumed and not assessed. Furthermore, there was a confounding of …
There were few studies with a representative sample of children with CP where all participants were individually assessed. Cognitive functio …
Self-injurious behavior.
Huisman S, Mulder P, Kuijk J, Kerstholt M, van Eeghen A, Leenders A, van Balkom I, Oliver C, Piening S, Hennekam R. Huisman S, et al. Neurosci Biobehav Rev. 2018 Jan;84:483-491. doi: 10.1016/j.neubiorev.2017.02.027. Epub 2017 Jul 8. Neurosci Biobehav Rev. 2018. PMID: 28694012 Free article. Review.
Self-injurious behavior (SIB) is a relatively common behavior in individuals with intellectual disabilities (ID). Severe SIB can be devastating and potentially life-threatening. ...We demonstrate that the prevalence of SIB in several well-known genetic intellectu …
Self-injurious behavior (SIB) is a relatively common behavior in individuals with intellectual disabilities (ID). Severe SIB c …
NAA10-related syndrome.
Wu Y, Lyon GJ. Wu Y, et al. Exp Mol Med. 2018 Jul 27;50(7):1-10. doi: 10.1038/s12276-018-0098-x. Exp Mol Med. 2018. PMID: 30054457 Free PMC article. Review.
NAA10-related syndrome is an X-linked condition with a broad spectrum of findings ranging from a severe phenotype in males with p.Ser37Pro in NAA10, originally described as Ogden syndrome, to the milder NAA10-related intellectual disability found with differe …
NAA10-related syndrome is an X-linked condition with a broad spectrum of findings ranging from a severe phenotype in males with p.Ser …
Oral health of patients with intellectual disabilities: a systematic review.
Anders PL, Davis EL. Anders PL, et al. Spec Care Dentist. 2010 May-Jun;30(3):110-7. doi: 10.1111/j.1754-4505.2010.00136.x. Spec Care Dentist. 2010. PMID: 20500706 Review.
A systematic review of original studies was conducted to determine if differences in oral health exist between adults who have intellectual disabilities (ID) and the general population. Electronic searching identified 27 studies that met the inclusion criteria. ...People w …
A systematic review of original studies was conducted to determine if differences in oral health exist between adults who have intellectu …
Expert opinion: Proposed diagnostic and treatment algorithms for Lennox-Gastaut syndrome in adult patients.
Montouris G, Aboumatar S, Burdette D, Kothare S, Kuzniecky R, Rosenfeld W, Chung S. Montouris G, et al. Epilepsy Behav. 2020 Sep;110:107146. doi: 10.1016/j.yebeh.2020.107146. Epub 2020 Jun 18. Epilepsy Behav. 2020. PMID: 32563898 Free article. Review.
Lennox-Gastaut syndrome (LGS) is a severe developmental epileptic encephalopathy diagnosed in childhood that persists through adolescence and into adulthood. While the characteristics of LGS in pediatric patients are well defined, including "drop attacks", interictal slow …
Lennox-Gastaut syndrome (LGS) is a severe developmental epileptic encephalopathy diagnosed in childhood that persists through adolesc …
CHD2-Related CNS Pathologies.
Wilson MM, Henshall DC, Byrne SM, Brennan GP. Wilson MM, et al. Int J Mol Sci. 2021 Jan 8;22(2):588. doi: 10.3390/ijms22020588. Int J Mol Sci. 2021. PMID: 33435571 Free PMC article. Review.
Epileptic encephalopathies (EE) are severe epilepsy syndromes characterized by multiple seizure types, developmental delay and even regression. ...These mutations in the CHD2 gene are causative of early onset epileptic encephalopathy, abnormal brain function, and intell …
Epileptic encephalopathies (EE) are severe epilepsy syndromes characterized by multiple seizure types, developmental delay and even r …
Severe Intellectual Disability: Systematic Review of the Prevalence and Nature of Presentation of Unipolar Depression.
Walton C, Kerr M. Walton C, et al. J Appl Res Intellect Disabil. 2016 Sep;29(5):395-408. doi: 10.1111/jar.12203. Epub 2015 Jun 22. J Appl Res Intellect Disabil. 2016. PMID: 26101049 Review.
BACKGROUND: The diagnosis of depression in severe and profound intellectual disability is challenging. Without adequate skills in verbal self-expression, standardized diagnostic criteria cannot be used with confidence. The purpose of this systematic review wa …
BACKGROUND: The diagnosis of depression in severe and profound intellectual disability is challenging. Without adequate …
Genetic analysis of intellectual disability and autism.
Chiurazzi P, Kiani AK, Miertus J, Paolacci S, Barati S, Manara E, Stuppia L, Gurrieri F, Bertelli M. Chiurazzi P, et al. Acta Biomed. 2020 Nov 9;91(13-S):e2020003. doi: 10.23750/abm.v91i13-S.10684. Acta Biomed. 2020. PMID: 33170170 Free PMC article. Review.
Social interaction and communication ability are also severely impaired in ASD. Almost 1-3% of the population is affected and it has been estimated that approximately 30% of intellectual disability and autism is caused by genetic factors. The aim of this revi …
Social interaction and communication ability are also severely impaired in ASD. Almost 1-3% of the population is affected and it has …
1,632 results