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

Year Number of Results
1990 2
1991 1
1993 1
1995 2
2000 2
2002 3
2003 5
2005 1
2006 1
2008 2
2009 1
2010 4
2011 2
2012 5
2013 4
2014 1
2015 2
2016 3
2018 2
2019 2
2020 3
2021 3
2022 1
2023 0

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47 results

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Page 1
Hydrocephalus in children.
Kahle KT, Kulkarni AV, Limbrick DD Jr, Warf BC. Kahle KT, et al. Lancet. 2016 Feb 20;387(10020):788-99. doi: 10.1016/S0140-6736(15)60694-8. Epub 2015 Aug 6. Lancet. 2016. PMID: 26256071 Review.
Hydrocephalus is a common disorder of cerebral spinal fluid (CSF) physiology resulting in abnormal expansion of the cerebral ventricles. Infants commonly present with progressive macrocephaly whereas children older than 2 years generally present with signs and sympt …
Hydrocephalus is a common disorder of cerebral spinal fluid (CSF) physiology resulting in abnormal expansion of the cerebral ventricles. Inf …
Malformations of Cerebral Cortex Development: Molecules and Mechanisms.
Juric-Sekhar G, Hevner RF. Juric-Sekhar G, et al. Annu Rev Pathol. 2019 Jan 24;14:293-318. doi: 10.1146/annurev-pathmechdis-012418-012927. Annu Rev Pathol. 2019. PMID: 30677308 Free PMC article. Review.
Malformations of cortical development encompass heterogeneous groups of structural brain anomalies associated with complex neurodevelopmental disorders and diverse genetic and nongenetic etiologies. Recent progress in understanding the genetic basis of brain malformations …
Malformations of cortical development encompass heterogeneous groups of structural brain anomalies associated with complex neurodevelopmenta …
ENT and mucopolysaccharidoses.
Bianchi PM, Gaini R, Vitale S. Bianchi PM, et al. Ital J Pediatr. 2018 Nov 16;44(Suppl 2):127. doi: 10.1186/s13052-018-0555-0. Ital J Pediatr. 2018. PMID: 30442170 Free PMC article. Review.
The mucopolysaccharidoses (MPS) are a heterogeneous group of inherited metabolic disorders, each associated with a deficiency in one of the enzymes involved in glycosaminoglycan (GAG) catabolism. Over time, GAGs accumulate in cells and tissues causing progressive damage, a …
The mucopolysaccharidoses (MPS) are a heterogeneous group of inherited metabolic disorders, each associated with a deficiency in one of the …
Gangliosidoses.
Patterson MC. Patterson MC. Handb Clin Neurol. 2013;113:1707-8. doi: 10.1016/B978-0-444-59565-2.00039-3. Handb Clin Neurol. 2013. PMID: 23622392 Review.
Cherry-red macular spots occur in the early onset forms of the gangliosidoses, but are less frequently seen in the less severe, later onset phenotypes. Macrocephaly, an exaggerated startle response, cognitive decline, seizures, ataxia, and progressive muscular atrop …
Cherry-red macular spots occur in the early onset forms of the gangliosidoses, but are less frequently seen in the less severe, later onset …
Cowden syndrome.
Hanssen AM, Fryns JP. Hanssen AM, et al. J Med Genet. 1995 Feb;32(2):117-9. doi: 10.1136/jmg.32.2.117. J Med Genet. 1995. PMID: 7760320 Free PMC article. Review.
Inheritance is autosomal dominant with variable expression. Progressive macrocephaly, scrotal tongue, and mild to moderate mental retardation are important signs indicating the syndrome in young children. ...
Inheritance is autosomal dominant with variable expression. Progressive macrocephaly, scrotal tongue, and mild to moderate men …
Russell-Silver syndrome.
Eggermann T. Eggermann T. Am J Med Genet C Semin Med Genet. 2010 Aug 15;154C(3):355-64. doi: 10.1002/ajmg.c.30274. Am J Med Genet C Semin Med Genet. 2010. PMID: 20803658 Review.
In comparison to Prader-Willi or Angelman syndrome, Russell-Silver syndrome (RSS) is a relatively "young" imprinting disorder. This congenital disease is characterized by intrauterine and postnatal growth retardation, relative macrocephaly, a typical triangular face …
In comparison to Prader-Willi or Angelman syndrome, Russell-Silver syndrome (RSS) is a relatively "young" imprinting disorder. This congenit …
Neurological manifestations of neurofibromatosis type 1: our experience.
Sánchez Marco SB, López Pisón J, Calvo Escribano C, González Viejo I, Miramar Gallart MD, Samper Villagrasa P. Sánchez Marco SB, et al. Neurologia (Engl Ed). 2022 Jun;37(5):325-333. doi: 10.1016/j.nrleng.2019.05.008. Epub 2021 May 26. Neurologia (Engl Ed). 2022. PMID: 35672119 Free article. Review.
INTRODUCTION: Neurofibromatosis type 1 (NF1) is a progressive multisystem disorder following an autosomal dominant inheritance pattern that presents with multiple neurological manifestations. ...Mean age (SD) at NF1 diagnosis was 4.43 (3.38) years (range, 0.5-14.5 years). …
INTRODUCTION: Neurofibromatosis type 1 (NF1) is a progressive multisystem disorder following an autosomal dominant inheritance patter …
Single-Cell Transcriptomics Supports a Role of CHD8 in Autism.
Hoffmann A, Spengler D. Hoffmann A, et al. Int J Mol Sci. 2021 Mar 23;22(6):3261. doi: 10.3390/ijms22063261. Int J Mol Sci. 2021. PMID: 33806835 Free PMC article. Review.
Individuals with CHD8 mutations show leading symptoms of autism, macrocephaly, and facial dysmorphisms. The molecular and cellular mechanisms underpinning the early onset and development of these symptoms are still poorly understood and prevent timely and more efficient th …
Individuals with CHD8 mutations show leading symptoms of autism, macrocephaly, and facial dysmorphisms. The molecular and cellular me …
Congenital myotonic dystrophy: ventriculomegaly and shunt considerations for the pediatric neurosurgeon.
Mutchnick IS, Thatikunta MA, Gump WC, Stewart DL, Moriarty TM. Mutchnick IS, et al. Childs Nerv Syst. 2016 Apr;32(4):609-16. doi: 10.1007/s00381-015-2993-y. Epub 2016 Jan 8. Childs Nerv Syst. 2016. PMID: 26747623 Review.
The natural history of CDM-associated ventriculomegaly from prenatal to natal to postnatal stages is poorly known. The relationship between macrocephaly and ventriculomegaly, incidence of shunt necessity, and early mortality outcomes lack pooled data analysis. This study a …
The natural history of CDM-associated ventriculomegaly from prenatal to natal to postnatal stages is poorly known. The relationship between …
Overgrowth syndromes with vascular anomalies.
Blei F. Blei F. Curr Probl Pediatr Adolesc Health Care. 2015 Apr;45(4):118-31. doi: 10.1016/j.cppeds.2015.03.002. Epub 2015 Apr 27. Curr Probl Pediatr Adolesc Health Care. 2015. PMID: 25937473 Review.
Additional searches in OMIM and Gene Reviews were conducted for each syndrome. Disease entities were categorized by predominant clinical features, known genetic information, and putative affected signaling pathway. ...All germ layers may be affected, and the abnormalities …
Additional searches in OMIM and Gene Reviews were conducted for each syndrome. Disease entities were categorized by predominant clini …
47 results