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

Year Number of Results
1965 1
1966 1
1967 3
1968 5
1969 3
1970 5
1971 12
1972 7
1973 10
1974 12
1975 8
1976 7
1977 3
1978 2
1979 7
1980 3
1981 7
1982 3
1983 5
1984 8
1985 6
1986 8
1987 3
1988 3
1989 8
1990 13
1991 15
1992 5
1993 7
1994 18
1995 5
1996 6
1997 8
1998 12
1999 9
2000 11
2001 8
2002 7
2003 14
2004 8
2005 12
2006 14
2007 16
2008 14
2009 19
2010 22
2011 32
2012 30
2013 44
2014 57
2015 56
2016 47
2017 36
2018 37
2019 56
2020 40
2021 49
2022 37
2023 18
2024 15

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841 results

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Quoted phrase not found in phrase index: "Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome"
Page 1
Physical therapy in Down syndrome: systematic review and meta-analysis.
Ruiz-González L, Lucena-Antón D, Salazar A, Martín-Valero R, Moral-Munoz JA. Ruiz-González L, et al. J Intellect Disabil Res. 2019 Aug;63(8):1041-1067. doi: 10.1111/jir.12606. Epub 2019 Feb 20. J Intellect Disabil Res. 2019. PMID: 30788876 Free article.
BACKGROUND: Down syndrome is the most common chromosomal abnormality, with a worldwide incidence of around 0.1% in live births. ...This study aims to evaluate the effectiveness of physical therapy in Down syndrome, to know and compare the effectiveness of dif …
BACKGROUND: Down syndrome is the most common chromosomal abnormality, with a worldwide incidence of around 0.1% in live births …
PCDH19-Related Epilepsy Syndrome: A Comprehensive Clinical Review.
Samanta D. Samanta D. Pediatr Neurol. 2020 Apr;105:3-9. doi: 10.1016/j.pediatrneurol.2019.10.009. Epub 2019 Nov 30. Pediatr Neurol. 2020. PMID: 32057594 Review.
PCDH19-related epilepsy is a distinct childhood-onset epilepsy syndrome characterized by brief clusters of febrile and afebrile seizures with onset primarily before the age of three years, cognitive impairment, autistic traits, and behavioral abnormalities. ...This …
PCDH19-related epilepsy is a distinct childhood-onset epilepsy syndrome characterized by brief clusters of febrile and afebrile seizu …
Klinefelter syndrome: more than hypogonadism.
Kanakis GA, Nieschlag E. Kanakis GA, et al. Metabolism. 2018 Sep;86:135-144. doi: 10.1016/j.metabol.2017.09.017. Epub 2018 Jan 31. Metabolism. 2018. PMID: 29382506 Review.
Klinefelter syndrome (KS) is the most frequent chromosome disorder in males (1:650 newborn males), defined by 47,XXY karyotype. ...Nevertheless, the majority fall within the average range regarding their intellectual abilities and adaptive functioning. Testosterone …
Klinefelter syndrome (KS) is the most frequent chromosome disorder in males (1:650 newborn males), defined by 47,XXY karyotype. ...Ne …
Epidemiology of fragile X syndrome: a systematic review and meta-analysis.
Hunter J, Rivero-Arias O, Angelov A, Kim E, Fotheringham I, Leal J. Hunter J, et al. Am J Med Genet A. 2014 Jul;164A(7):1648-58. doi: 10.1002/ajmg.a.36511. Epub 2014 Apr 3. Am J Med Genet A. 2014. PMID: 24700618 Review.
Data were pooled using Bayesian fixed-effects and random-effects models. Primary analyses assessed the frequency of the full mutation and premutation in males and females in the total population (no bias against individuals with intellectual disability) and in femal …
Data were pooled using Bayesian fixed-effects and random-effects models. Primary analyses assessed the frequency of the full mutation …
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 …
Psychopharmacology of neurobehavioral disorders.
Mooney LN, Dominick KC, Erickson CA. Mooney LN, et al. Handb Clin Neurol. 2019;165:383-390. doi: 10.1016/B978-0-444-64012-3.00023-X. Handb Clin Neurol. 2019. PMID: 31727225 Review.
We review such prescribing practice in autism spectrum disorder, fragile X syndrome, and Prader-Willi syndrome....
We review such prescribing practice in autism spectrum disorder, fragile X syndrome, and Prader-Willi syndrome....
Recent advances in trigonocephaly.
Mocquard C, Aillet S, Riffaud L. Mocquard C, et al. Neurochirurgie. 2019 Nov;65(5):246-251. doi: 10.1016/j.neuchi.2019.09.014. Epub 2019 Sep 27. Neurochirurgie. 2019. PMID: 31568780 Free article. Review.
The prevalence of trigonocephaly increased during the last two decades both in Europe and in the United States, but no clear contributing factors have yet been identified. Neurodevelopmental disorders are frequent in syndromic trigonocephaly and not particularly rare in no …
The prevalence of trigonocephaly increased during the last two decades both in Europe and in the United States, but no clear contributing fa …
Psychopathological disorders in Prader-Willi syndrome.
Guinovart M, Coronas R, Caixàs A. Guinovart M, et al. Endocrinol Diabetes Nutr (Engl Ed). 2019 Nov;66(9):579-587. doi: 10.1016/j.endinu.2019.03.004. Epub 2019 Apr 18. Endocrinol Diabetes Nutr (Engl Ed). 2019. PMID: 31006652 Review. English, Spanish.
Both the most common psychopathological changes (intellectual disability, obsessions, impulsivity, autism spectrum disorders, self-injuries) and the main psychiatric comorbidities (affective disorders, psychosis, obsessive-compulsive disorder, autism spectrum disorder) are …
Both the most common psychopathological changes (intellectual disability, obsessions, impulsivity, autism spectrum disorders, self-in …
Trisomy in man.
Hassold TJ, Jacobs PA. Hassold TJ, et al. Annu Rev Genet. 1984;18:69-97. doi: 10.1146/annurev.ge.18.120184.000441. Annu Rev Genet. 1984. PMID: 6241455 Review.
Trisomy, occurring in at least 4% of pregnancies, is the most common chromosome abnormality in humans. The majority of trisomies are associated with single additional chromosome. The presence of an additional sex chromosome is often associated with physical, behavioral, an …
Trisomy, occurring in at least 4% of pregnancies, is the most common chromosome abnormality in humans. The majority of trisomies are …
The Neurological Manifestations of Phelan-McDermid Syndrome.
Frank Y. Frank Y. Pediatr Neurol. 2021 Sep;122:59-64. doi: 10.1016/j.pediatrneurol.2021.06.002. Epub 2021 Jun 16. Pediatr Neurol. 2021. PMID: 34325981 Review.
PMS is characterized by neurobehavioral symptoms and signs including intellectual disability, speech and language impairment, autism spectrum disorder (ASD), hypotonia, and other motor abnormalities. ...A pilot clinical trial with insulin-like growth f …
PMS is characterized by neurobehavioral symptoms and signs including intellectual disability, speech and language impairment, autism …
841 results