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Cerebellar agenesis

Lack of development of the cerebellum. [HPO:probinson, pmid:20305277]
National Institutes of Health

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
Review
2015
Review
2015
Variable brain phenotype primarily affects the brainstem and cerebellum in patients with osteogenesis imperfecta caused by recessive WNT1 mutations
Autosomal recessively inherited mutations in WNT1 were recently identified as a cause of severe osteogenesis imperfecta (OI).1–6… 
2009
2009
A Turkish newborn infant with cerebellar agenesis/neonatal diabetes mellitus and PTF1A mutation.
Classical neonatal diabetes mellitus is defined as hyperglycemia that occurs within the first month of life in term infants. It… 
2007
2007
Screening for structural fetal anomalies during the nuchal translucency ultrasound examination.
Highly Cited
2007
Highly Cited
2007
Dexterity in cerebellar agenesis
Highly Cited
2004
Highly Cited
2004
Mutations in PTF1A cause pancreatic and cerebellar agenesis
Individuals with permanent neonatal diabetes mellitus usually present within the first three months of life and require insulin… 
Review
2004
Review
2004
Cerebellum—small brain but large confusion: A review of selected cerebellar malformations and disruptions
Defining and classifying congenital disorders of the cerebellum can be difficult and confusing. One reason is that some… 
2004
2004
Subtotal agenesis of the cerebellum in an adult
We describe a 58-year-old asymptomatic woman with subtotal developmental absence of the cerebellum. MRI evaluation showed minute… 
2003
2003
Cerebellar Agenesis: Clinical, Neuropsychological and MR Findings
Cases of cerebellar agenesis are rare. The degree of motor impairment is a matter of discussion. It has been claimed that normal… 
1981
1981
A case of holoprosencephaly: With possible association of Dandy-Walker cyst
Highly Cited
1978
Highly Cited
1978
Congenital hydrocephalus and cerebellar agenesis
In a sibship of three brothers, two expired shortly after birth with congenital hydrocephalus, and necropsy of one revealed… 
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