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Cerebellar Agenesis

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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 "Cerebellar Agenesis" returned 0 free, full-text review articles. First 0 results:
Long-term outcome of antenatally diagnosed agenesis of corpus callosum and cerebellar malformations.
Last Updated: Nov 25, 2016

Recent advancements in fetal imaging and antenatal care have enabled identification of numerous anomalies including agenesis of corpus callosum and posterior fossa abnormalities. One of the important determinants of long-term prognosis in these conditions is the presence of central ...

Prenatal diagnosis of ring chromosome 6 in a fetus with cerebellar hypoplasia and partial agenesis of corpus callosum: case report and review of the literature.
Last Updated: Nov 24, 2016

Ring chromosome 6 (RC6) is a rare constitutional abnormality, with variable material loss, leading to a variable clinical phenotype: minimal physical anomalies and mild psychomotor retardation to severe physical and mental defects. Among the 22 published cases, only five have been ...

Cerebellar agenesis and diabetes insipidus.
Last Updated: Nov 17, 2011

We report on a 7-year-old female, born after a normal pregnancy at term, previously referred because of delayed psychomotor development. MRI revealed isolated cerebellar agenesis (CA) with only minute tissue remnants of the anterior vermis/paravermian anterior quadrangular lobes and ...

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Editorials from PubMed

Editorial articles describe the outcome of a single study. They are the published results of original research. The terms "Cerebellar Agenesis" returned 0 free, full-text editorial articles. First 0 results:
No publications were found for this category.
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Research Articles from PubMed

Research articles describe the outcome of a single study. They are the published results of original research. The terms "Cerebellar Agenesis" returned 9 free, full-text research articles. First few results:
Mutated zinc finger protein of the cerebellum 1 leads to microcephaly, cortical malformation, callosal agenesis, cerebellar dysplasia, tethered cord and scoliosis.
Last Updated: Feb 22, 2019

Heterozygous gain of function mutations in the ZIC1 gene have been described with syndromic craniosynostosis, variable cerebral or cerebellar abnormalities and mild to moderate developmental delay. Deletion of chromosome 3q25.1 including both adjacent ZIC1 and ZIC4 genes have been ...

Absence of associative motor learning and impaired time perception in a rare case of complete cerebellar agenesis.
Last Updated: Dec 10, 2019

Primary cerebellar agenesis (PCA), a brain disease where the cerebellum does not develop, is an extremely rare congenital disease with only eleven living cases reported thus far. Studies of the PCA case will thus provide valuable insights into the necessity of cerebellar development ...

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