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1995
2025

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Year Number of Results
1995 1
1999 2
2003 1
2004 1
2005 2
2006 2
2007 2
2008 3
2009 2
2010 2
2011 2
2012 4
2013 6
2014 5
2015 7
2016 6
2017 6
2018 3
2019 5
2020 7
2021 17
2022 10
2023 18
2024 12
2025 0

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110 results

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Page 1
Genotype-Phenotype Correlations in Angelman Syndrome.
Yang L, Shu X, Mao S, Wang Y, Du X, Zou C. Yang L, et al. Genes (Basel). 2021 Jun 28;12(7):987. doi: 10.3390/genes12070987. Genes (Basel). 2021. PMID: 34203304 Free PMC article. Review.
Angelman syndrome (AS) is a rare neurodevelopmental disease that is caused by the loss of function of the maternal copy of ubiquitin-protein ligase E3A (UBE3A) on the chromosome 15q11-13 region. AS is characterized by global developmental delay, severe
Angelman syndrome (AS) is a rare neurodevelopmental disease that is caused by the loss of function of the maternal copy of ubiquitin-protein …
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. We hypothesised that CCs play a major role in the development of ID/GDD and that both gain- an …
Nevertheless, the relationship between calcium channelopathies (CCs) and intellectual disability (ID)/global developmental
DNA repair mechanisms in dividing and non-dividing cells.
Iyama T, Wilson DM 3rd. Iyama T, et al. DNA Repair (Amst). 2013 Aug;12(8):620-36. doi: 10.1016/j.dnarep.2013.04.015. Epub 2013 May 16. DNA Repair (Amst). 2013. PMID: 23684800 Free PMC article. Review.
SHANK3 as an autism spectrum disorder-associated gene.
Uchino S, Waga C. Uchino S, et al. Brain Dev. 2013 Feb;35(2):106-10. doi: 10.1016/j.braindev.2012.05.013. Epub 2012 Jun 29. Brain Dev. 2013. PMID: 22749736 Review.
Haploinsufficiency of the SHANK3 gene causes a developmental disorder, 22q13.3 deletion syndrome (known as Phelan-McDermid syndrome), that is characterized by severe expressive language and speech delay, hypotonia, global developmental delay
Haploinsufficiency of the SHANK3 gene causes a developmental disorder, 22q13.3 deletion syndrome (known as Phelan-McDermid syndrome), …
How I treat anemia in pregnancy: iron, cobalamin, and folate.
Achebe MM, Gafter-Gvili A. Achebe MM, et al. Blood. 2017 Feb 23;129(8):940-949. doi: 10.1182/blood-2016-08-672246. Epub 2016 Dec 29. Blood. 2017. PMID: 28034892 Free article. Review.
Laboratory tests defining iron deficiency, the recognition of developmental delays and cognitive abnormalities in iron-deficient neonates, and literature addressing the efficacy and safety of IV iron in pregnancy are reviewed. ...A case of malarial anemia emphasizes …
Laboratory tests defining iron deficiency, the recognition of developmental delays and cognitive abnormalities in iron-deficie …
Snijders Blok-Campeau Syndrome: Description of 20 Additional Individuals with Variants in CHD3 and Literature Review.
Pascual P, Tenorio-Castano J, Mignot C, Afenjar A, Arias P, Gallego-Zazo N, Parra A, Miranda L, Cazalla M, Silván C, Heron D, Keren B, Popa I, Palomares M, Rikeros E, Ramos FJ, Almoguera B, Ayuso C, Swafiri ST, Barbero AIS, Srinivasan VM, Gowda VK, Morleo M, Nigro V, D'Arrigo S, Ciaccio C, Martin Mesa C, Paumard B, Guillen G, Anton ATS, Jimenez MD, Seidel V, Suárez J, Cormier-Daire V, Consortium TS, Nevado J, Lapunzina P. Pascual P, et al. Genes (Basel). 2023 Aug 23;14(9):1664. doi: 10.3390/genes14091664. Genes (Basel). 2023. PMID: 37761804 Free PMC article. Review.
Clinical features of patients with SNIBCPS include global developmental delay, intellectual disability, speech and language difficulties and behavioral disorders like autism spectrum disorder. ...The most common clinical features of the whole cohort of patien …
Clinical features of patients with SNIBCPS include global developmental delay, intellectual disability, speech and lang …
Genomics of Autism.
Fakhro KA. Fakhro KA. Adv Neurobiol. 2020;24:83-96. doi: 10.1007/978-3-030-30402-7_3. Adv Neurobiol. 2020. PMID: 32006357 Review.
Autism spectrum disorder (ASD) is a heterogeneous condition affecting >1% of all children, characterized by impaired social interactions, repetitive behavior and a widely variable spectrum of comorbidities. These comorbidities may include developmental delay, gas …
Autism spectrum disorder (ASD) is a heterogeneous condition affecting >1% of all children, characterized by impaired social interactions, …
Attention Deficit Hyperactivity and Autism Spectrum Disorders as the Core Symptoms of AUTS2 Syndrome: Description of Five New Patients and Update of the Frequency of Manifestations and Genotype-Phenotype Correlation.
Sanchez-Jimeno C, Blanco-Kelly F, López-Grondona F, Losada-Del Pozo R, Moreno B, Rodrigo-Moreno M, Martinez-Cayuelas E, Riveiro-Alvarez R, Fenollar-Cortés M, Ayuso C, Rodríguez de Alba M, Lorda-Sanchez I, Almoguera B. Sanchez-Jimeno C, et al. Genes (Basel). 2021 Aug 30;12(9):1360. doi: 10.3390/genes12091360. Genes (Basel). 2021. PMID: 34573342 Free PMC article. Review.
Haploinsufficiency of AUTS2 has been associated with a syndromic form of neurodevelopmental delay characterized by intellectual disability, autistic features, and microcephaly, also known as AUTS2 syndrome. ...The phenotype of the patients was characterized by attention de …
Haploinsufficiency of AUTS2 has been associated with a syndromic form of neurodevelopmental delay characterized by intellectual disab …
Epileptic encephalopathies and progressive neurodegeneration.
Guerrini R, Conti V. Guerrini R, et al. Rev Neurol (Paris). 2024 May;180(5):363-367. doi: 10.1016/j.neurol.2024.03.004. Epub 2024 Apr 5. Rev Neurol (Paris). 2024. PMID: 38582661 Free article. Review.
Developmental encephalopathies (DE), epileptic encephalopathies (EE) and developmental and epileptic encephalopathies (DEE) are overlapping neurodevelopmental disorders characterized by early-onset, often severe epileptic seizures, developmental del
Developmental encephalopathies (DE), epileptic encephalopathies (EE) and developmental and epileptic encephalopathies (DEE) ar
Neurodevelopmental outcome in very preterm and very-low-birthweight infants born over the past decade: a meta-analytic review.
Pascal A, Govaert P, Oostra A, Naulaers G, Ortibus E, Van den Broeck C. Pascal A, et al. Dev Med Child Neurol. 2018 Apr;60(4):342-355. doi: 10.1111/dmcn.13675. Epub 2018 Jan 19. Dev Med Child Neurol. 2018. PMID: 29350401 Free article. Review.
The pooled prevalence of cognitive and motor delays, evaluated with developmental tests, was estimated at 16.9% (95% confidence interval [CI] 10.4-26.3) and 20.6% (95% CI 13.9-29.4%) respectively. Mild delays were more frequent than moderate-to-severe
The pooled prevalence of cognitive and motor delays, evaluated with developmental tests, was estimated at 16.9% (95% confidenc …
110 results