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1 calcifications, hydrocephalus ex vacuo, and cerebellar hypoplasia.
2 oss of both cell types ultimately results in cerebellar hypoplasia.
3 mice and humans are usually associated with cerebellar hypoplasia.
4 ations are known to cause lissencephaly with cerebellar hypoplasia.
5 locomotion, all three patients showed severe cerebellar hypoplasia.
6 asia or agenesis, abnormal basal ganglia and cerebellar hypoplasia.
7 l alcohol syndrome, which is associated with cerebellar hypoplasia.
8 ant with abnormal cortical lamination and no cerebellar hypoplasia.
9 otypes in the cortex and hippocampus without cerebellar hypoplasia.
11 nt (Reln(rl)), in which Reln mutations cause cerebellar hypoplasia, abnormal cerebral cortical neuron
12 ephaly, polymicrogyria and, in one instance, cerebellar hypoplasia, all traits traditionally regarded
13 fetuses had all been diagnosed with PMG and cerebellar hypoplasia allowed us to identify regions of
15 ent folia (cdf) mutation are ataxic and have cerebellar hypoplasia and abnormal lobulation of the cer
16 man cerebellar malformation characterized by cerebellar hypoplasia and an enlarged posterior fossa an
18 We demonstrate that loss of Wnt5a results in cerebellar hypoplasia and depletion of GABAergic and glu
19 ing gene Rp58 (Znf238, Zfp238) causes severe cerebellar hypoplasia and developmental failure of Purki
21 loss of either of these genes caused severe cerebellar hypoplasia and foliation abnormalities, prima
22 utosomal recessive disorder characterized by cerebellar hypoplasia and intellectual disability, as we
26 e features pathognomonic for JBTS (including cerebellar hypoplasia), and retention of abnormal bulbou
28 /A2 in neural progenitors resulted in severe cerebellar hypoplasia, decreased proliferation of cerebe
29 (GCps) results in reduced GCp proliferation, cerebellar hypoplasia, developmental delay, and motor de
30 sociated with CHARGE syndrome, which include cerebellar hypoplasia, developmental delay, coordination
31 ardation, developmental delay, microcephaly, cerebellar hypoplasia, immunodeficiency, and extremely s
32 inically severe variant of DC, also includes cerebellar hypoplasia, immunodeficiency, and intrauterin
33 contribute to GCp proliferative defects and cerebellar hypoplasia in GCp-specific Chd7 mouse mutants
36 rebellar granule neuron progenitors leads to cerebellar hypoplasia in mice, due to the impairment of
39 tern of neurological abnormalities including cerebellar hypoplasia, learning difficulties, sensorineu
40 uction in cerebral volume, ventriculomegaly, cerebellar hypoplasia, lissencephaly with hydrocephalus,
41 n NPHP, which includes retinal degeneration, cerebellar hypoplasia, liver fibrosis, situs inversus, a
42 les showing ID, agenesis of corpus callosum, cerebellar hypoplasia, microcephaly and ichthyosis, reve
43 ere agenesis of the corpus callosum (n = 4), cerebellar hypoplasia (n = 2), cortical cleft (n = 2), p
44 heart failure; two sisters showed antenatal cerebellar hypoplasia, neonatal respiratory-distress syn
45 alcifications, ventriculomegaly, pachygyria, cerebellar hypoplasia, porencephalic cysts, periventricu
47 etes, they had learning difficulties, severe cerebellar hypoplasia, profound sensorineural deafness,
48 elineated in three unrelated boys with BPNH, cerebellar hypoplasia, severe mental retardation, epilep
49 llow coloration of brain tissue and a marked cerebellar hypoplasia that we characterize as kernicteru
50 ord tracts, and spinal nerves accompanied by cerebellar hypoplasia was observed in a colony of labora
52 arefaction, severe to mild ventriculomegaly, cerebellar hypoplasia with brainstem dysgenesis, and car
54 the same neuroanatomical defects, including cerebellar hypoplasia with Purkinje cell ectopia and dis
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