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
1945 1
1946 1
1947 1
1948 1
1950 1
1951 3
1952 1
1954 1
1955 4
1956 3
1957 3
1958 6
1959 4
1960 1
1961 4
1962 10
1963 24
1964 10
1965 14
1966 26
1967 22
1968 24
1969 23
1970 26
1971 40
1972 27
1973 19
1974 38
1975 122
1976 131
1977 133
1978 131
1979 161
1980 181
1981 161
1982 223
1983 221
1984 240
1985 238
1986 236
1987 245
1988 227
1989 313
1990 354
1991 335
1992 346
1993 437
1994 484
1995 453
1996 447
1997 531
1998 584
1999 643
2000 653
2001 744
2002 760
2003 827
2004 995
2005 1133
2006 1313
2007 1593
2008 1721
2009 1790
2010 1969
2011 2178
2012 2520
2013 2796
2014 2795
2015 2858
2016 3070
2017 3216
2018 3309
2019 3529
2020 3596
2021 3797
2022 3479
2023 3123
2024 1470

Text availability

Article attribute

Article type

Publication date

Search Results

53,127 results

Results by year

Filters applied: . Clear all
Quoted phrase not found in phrase index: "Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive"
Page 1
Neurodevelopmental disorders.
Thapar A, Cooper M, Rutter M. Thapar A, et al. Lancet Psychiatry. 2017 Apr;4(4):339-346. doi: 10.1016/S2215-0366(16)30376-5. Epub 2016 Dec 13. Lancet Psychiatry. 2017. PMID: 27979720 Review.
Neurodevelopmental disorders such as attention deficit hyperactivity disorder (ADHD) and autism spectrum disorder, although most commonly considered in childhood, can be lifelong conditions. ...Overall, we argue strongly for a flexible approach in clin …
Neurodevelopmental disorders such as attention deficit hyperactivity disorder (ADHD) and autism spectrum disorder …
Sex-Based Analysis of De Novo Variants in Neurodevelopmental Disorders.
Turner TN, Wilfert AB, Bakken TE, Bernier RA, Pepper MR, Zhang Z, Torene RI, Retterer K, Eichler EE. Turner TN, et al. Am J Hum Genet. 2019 Dec 5;105(6):1274-1285. doi: 10.1016/j.ajhg.2019.11.003. Epub 2019 Nov 27. Am J Hum Genet. 2019. PMID: 31785789 Free PMC article.
While genes with an excess of de novo mutations (DNMs) have been identified in children with neurodevelopmental disorders (NDDs), few studies focus on DNM patterns where the sex of affected children is examined separately. ...A replication cohort of 18,778 sequenced …
While genes with an excess of de novo mutations (DNMs) have been identified in children with neurodevelopmental disorders (NDD …
Neurodevelopmental disorders-the history and future of a diagnostic concept.
Morris-Rosendahl DJ, Crocq MA. Morris-Rosendahl DJ, et al. Dialogues Clin Neurosci. 2020 Mar;22(1):65-72. doi: 10.31887/DCNS.2020.22.1/macrocq. Dialogues Clin Neurosci. 2020. PMID: 32699506 Free PMC article. Review.
This article describes the history of the diagnostic class of neurodevelopmental disorders (NDDs) up to DSM-5. We further analyze how the development of genetics will transform the classification and diagnosis of NDDs. ...Genetic research supports the hypothesis tha …
This article describes the history of the diagnostic class of neurodevelopmental disorders (NDDs) up to DSM-5. We further anal …
Prenatal stress: Effects on fetal and child brain development.
Lautarescu A, Craig MC, Glover V. Lautarescu A, et al. Int Rev Neurobiol. 2020;150:17-40. doi: 10.1016/bs.irn.2019.11.002. Epub 2019 Dec 14. Int Rev Neurobiol. 2020. PMID: 32204831 Review.
These include depression, anxiety, Attention Deficit Hyperactivity Disorder (ADHD), and/or conduct disorders. There is an increased risk for other outcomes also, including preterm delivery and reduced telomere length, possibly indicative of an accelerated life histo …
These include depression, anxiety, Attention Deficit Hyperactivity Disorder (ADHD), and/or conduct disorders. There is an incr …
Diagnostic outcomes for genetic testing of 70 genes in 8565 patients with epilepsy and neurodevelopmental disorders.
Lindy AS, Stosser MB, Butler E, Downtain-Pickersgill C, Shanmugham A, Retterer K, Brandt T, Richard G, McKnight DA. Lindy AS, et al. Epilepsia. 2018 May;59(5):1062-1071. doi: 10.1111/epi.14074. Epub 2018 Apr 14. Epilepsia. 2018. PMID: 29655203
OBJECTIVE: We evaluated >8500 consecutive, unselected patients with epilepsy and neurodevelopmental disorders who underwent multigene panel testing to determine the average age at molecular diagnosis and diagnostic yield of 70 genes. ...Our study highlights both …
OBJECTIVE: We evaluated >8500 consecutive, unselected patients with epilepsy and neurodevelopmental disorders who underwent …
Diagnosis and Treatment of Cyclothymia: The "Primacy" of Temperament.
Perugi G, Hantouche E, Vannucchi G. Perugi G, et al. Curr Neuropharmacol. 2017 Apr;15(3):372-379. doi: 10.2174/1570159X14666160616120157. Curr Neuropharmacol. 2017. PMID: 28503108 Free PMC article. Review.
METHOD: In the present article, we critically reviewed the literature on the diagnosis and treatment of cyclothymia, focusing on the temperamental and neurodevelopmental perspectives. RESULTS: Current epidemiological and clinical research showed the high prevalence and the …
METHOD: In the present article, we critically reviewed the literature on the diagnosis and treatment of cyclothymia, focusing on the tempera …
Infant microbes and metabolites point to childhood neurodevelopmental disorders.
Ahrens AP, Hyötyläinen T, Petrone JR, Igelström K, George CD, Garrett TJ, Orešič M, Triplett EW, Ludvigsson J. Ahrens AP, et al. Cell. 2024 Apr 11;187(8):1853-1873.e15. doi: 10.1016/j.cell.2024.02.035. Epub 2024 Apr 3. Cell. 2024. PMID: 38574728 Free article.
This study has followed a birth cohort for over 20 years to find factors associated with neurodevelopmental disorder (ND) diagnosis. Detailed, early-life longitudinal questionnaires captured infection and antibiotic events, stress, prenatal factors, family history, …
This study has followed a birth cohort for over 20 years to find factors associated with neurodevelopmental disorder (ND) diag …
CAPRIN1 haploinsufficiency causes a neurodevelopmental disorder with language impairment, ADHD and ASD.
Pavinato L, Delle Vedove A, Carli D, Ferrero M, Carestiato S, Howe JL, Agolini E, Coviello DA, van de Laar I, Au PYB, Di Gregorio E, Fabbiani A, Croci S, Mencarelli MA, Bruno LP, Renieri A, Veltra D, Sofocleous C, Faivre L, Mazel B, Safraou H, Denommé-Pichon AS, van Slegtenhorst MA, Giesbertz N, van Jaarsveld RH, Childers A, Rogers RC, Novelli A, De Rubeis S, Buxbaum JD, Scherer SW, Ferrero GB, Wirth B, Brusco A. Pavinato L, et al. Brain. 2023 Feb 13;146(2):534-548. doi: 10.1093/brain/awac278. Brain. 2023. PMID: 35979925 Free PMC article.
We describe an autosomal dominant disorder associated with loss-of-function variants in the Cell cycle associated protein 1 (CAPRIN1; MIM*601178). ...In conclusion, we demonstrate that CAPRIN1 haploinsufficiency causes a novel autosomal dominant neurodevel …
We describe an autosomal dominant disorder associated with loss-of-function variants in the Cell cycle associated protein 1 (C …
Association between plasma proteome and childhood neurodevelopmental disorders: A two-sample Mendelian randomization analysis.
Yang J, He X, Qian L, Zhao B, Fan Y, Gao F, Yan B, Zhu F, Ma X. Yang J, et al. EBioMedicine. 2022 Apr;78:103948. doi: 10.1016/j.ebiom.2022.103948. Epub 2022 Mar 17. EBioMedicine. 2022. PMID: 35306338 Free PMC article.
BACKGROUND: Childhood neurodevelopmental disorders, including autism spectrum disorder (ASD), attention-deficit hyperactivity disorder (ADHD), and Tourette syndrome (TS), comprise a major cause of health-related disabilities in children. ...The causal …
BACKGROUND: Childhood neurodevelopmental disorders, including autism spectrum disorder (ASD), attention-deficit hyperac …
Genotype-phenotype correlations in RHOBTB2-associated neurodevelopmental disorders.
Langhammer F, Maroofian R, Badar R, Gregor A, Rochman M, Ratliff JB, Koopmans M, Herget T, Hempel M, Kortüm F, Heron D, Mignot C, Keren B, Brooks S, Botti C, Ben-Zeev B, Argilli E, Sherr EH, Gowda VK, Srinivasan VM, Bakhtiari S, Kruer MC, Salih MA, Kuechler A, Muller EA, Blocker K, Kuismin O, Park KL, Kochhar A, Brown K, Ramanathan S, Clark RD, Elgizouli M, Melikishvili G, Tabatadze N, Stark Z, Mirzaa GM, Ong J, Grasshoff U, Bevot A, von Wintzingerode L, Jamra RA, Hennig Y, Goldenberg P, Al Alam C, Charif M, Boulouiz R, Bellaoui M, Amrani R, Al Mutairi F, Tamim AM, Abdulwahab F, Alkuraya FS, Khouj EM, Alvi JR, Sultan T, Hashemi N, Karimiani EG, Ashrafzadeh F, Imannezhad S, Efthymiou S, Houlden H, Sticht H, Zweier C. Langhammer F, et al. Genet Med. 2023 Aug;25(8):100885. doi: 10.1016/j.gim.2023.100885. Epub 2023 May 8. Genet Med. 2023. PMID: 37165955
PURPOSE: Missense variants clustering in the BTB domain region of RHOBTB2 cause a developmental and epileptic encephalopathy with early-onset seizures and severe intellectual disability. METHODS: By international collaboration, we assembled individuals with pathogenic RHOB …
PURPOSE: Missense variants clustering in the BTB domain region of RHOBTB2 cause a developmental and epileptic encephalopathy with early-onse …
53,127 results
You have reached the last available page of results. Please see the User Guide for more information.