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Microcephaly

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Review Articles from PubMed

Review articles summarize what is currently known about a disease. They discuss research previously published by others. The terms "Microcephaly" returned 45 free, full-text review articles. First few results:
Novel NGLY1 gene variants in Chinese children with global developmental delay, microcephaly, hypotonia, hypertransaminasemia, alacrimia, and feeding difficulty.
Last Updated: Oct 08, 2020

NGLY1 deficiency is the first and only autosomal recessive congenital disorder of N-linked deglycosylation (NGLY1-CDDG). To date, no patients with NGLY1 deficiency has been reported from mainland China or East Asia in English literature. Here, we present six patients with a diagnosis ...

The Mitotic Apparatus and Kinetochores in Microcephaly and Neurodevelopmental Diseases.
Last Updated: Sep 16, 2020

Regulators of mitotic division, when dysfunctional or expressed in a deregulated manner (over- or underexpressed) in somatic cells, cause chromosome instability, which is a predisposing condition to cancer that is associated with unrestricted proliferation. Genes encoding mitotic ...

PRRT2 gene variant in a child with dysmorphic features, congenital microcephaly, and severe epileptic seizures: genotype-phenotype correlation?
Last Updated: May 27, 2020

Mutations in Proline-rich Transmembrane Protein 2 (PRRT2) have been primarily associated with individuals presenting with infantile epilepsy, including benign familial infantile epilepsy, benign infantile epilepsy, and benign myoclonus of early infancy, and/or with dyskinetic paroxysms ...

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45 Free Review Articles 111 Review Articles

Editorials from PubMed

Editorial articles describe the outcome of a single study. They are the published results of original research. The terms "Microcephaly" returned 7 free, full-text editorial articles. First few results:
Does APC/C control the human brain size?: An Editorial Highlight for 'A novel human Cdh1 mutation impairs anaphase-promoting complex/cyclosome (APC/C) activity resulting in microcephaly, psychomotor retardation, and epilepsy' on page 103.
Last Updated: Jun 03, 2020

This editorial highlights a study by Rodriguez, Sanchez-Moran et al. (2019) in the current issue of the Journal of Neurochemistry, in which the authors describe a microcephalic boy carrying the novel heterozygous de novo missense mutation c.560A> G; p.Asp187Gly in Cdh1/Fzr1 encoding ...

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7 Free Editorials 12 Editorials

Research Articles from PubMed

Research articles describe the outcome of a single study. They are the published results of original research. The terms "Microcephaly" returned 486 free, full-text research articles. First few results:
Congenital Zika syndrome: association between the gestational trimester of maternal infection, severity of brain computed tomography findings and microcephaly at birth.
Last Updated: Sep 11, 2020

This study analyzed possible associations between the trimester of maternal Zika virus infection (ZIKV) in pregnancy, severity of brain computed tomography (CT) findings and the presence of microcephaly at birth in children with Congenital Zika Syndrome (CZS). It was an analytical ...

Microcephaly, Hypotonia, and Intracranial Calcifications in an 11-Week-Old Boy.
Last Updated: Sep 30, 2020

An 11-week-old unvaccinated, term Amish boy initially presented with poor feeding, microcephaly, failure to thrive, and developmental delays. His physical examination was significant for both weight and head circumference being less than the third percentile, and he was noted to have ...

Evaluation of a health information exchange system for microcephaly case-finding - New York City, 2013-2015.
Last Updated: Oct 13, 2020

Birth defects surveillance in the United States is conducted principally by review of routine but lagged reporting to statewide congenital malformations registries of diagnoses by hospitals or other health care providers, a process that is not designed to rapidly detect changes in ...

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486 Free Research Articles 1200 Research Articles