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1  mice and humans are usually associated with cerebellar hypoplasia.
2 locomotion, all three patients showed severe cerebellar hypoplasia.
3 ant with abnormal cortical lamination and no cerebellar hypoplasia.
4 otypes in the cortex and hippocampus without cerebellar hypoplasia.
5  calcifications, hydrocephalus ex vacuo, and cerebellar hypoplasia.
6 oss of both cell types ultimately results in cerebellar hypoplasia.
7 ations are known to cause lissencephaly with cerebellar hypoplasia.
8 ental delay and intellectual disability, and cerebellar hypoplasia.
9 asia or agenesis, abnormal basal ganglia and cerebellar hypoplasia.
10 l alcohol syndrome, which is associated with cerebellar hypoplasia.
11 ntal disorder with spasticity, cataracts and cerebellar hypoplasia.
12 tical structure, small hippocampi and severe cerebellar hypoplasia.
13 b blocked CGNP proliferation, causing severe cerebellar hypoplasia.
14 h distal spasticity, dystonic movements, and cerebellar hypoplasia.
15 skin hyperpigmentation, aplastic anemia, and cerebellar hypoplasia.
16 in malformations, including microcephaly and cerebellar hypoplasia.
17 onsistent and severe phenotype that includes cerebellar hypoplasia.
18 tical hypogyration (81%), and less commonly, cerebellar hypoplasia (52%).
19 nt (Reln(rl)), in which Reln mutations cause cerebellar hypoplasia, abnormal cerebral cortical neuron
20 ephaly, polymicrogyria and, in one instance, cerebellar hypoplasia, all traits traditionally regarded
21  fetuses had all been diagnosed with PMG and cerebellar hypoplasia allowed us to identify regions of
22                    Other phenotypes included cerebellar hypoplasia and a shortened cerebral cortex.
23 ent folia (cdf) mutation are ataxic and have cerebellar hypoplasia and abnormal lobulation of the cer
24 man cerebellar malformation characterized by cerebellar hypoplasia and an enlarged posterior fossa an
25                          Autosomal-recessive cerebellar hypoplasia and ataxia constitute a group of h
26                One patient with a history of cerebellar hypoplasia and bilateral congenital corneal a
27  Microcephaly, progressive cortical atrophy, cerebellar hypoplasia and delayed myelination are neurol
28 We demonstrate that loss of Wnt5a results in cerebellar hypoplasia and depletion of GABAergic and glu
29 ing gene Rp58 (Znf238, Zfp238) causes severe cerebellar hypoplasia and developmental failure of Purki
30 um agenesis (32/80; 40%), and mild to severe cerebellar hypoplasia and dysplasia (63/80; 78.7%).
31  loss of either of these genes caused severe cerebellar hypoplasia and foliation abnormalities, prima
32 utosomal recessive disorder characterized by cerebellar hypoplasia and intellectual disability, as we
33  for mutations in Unc5h3 are ataxic and have cerebellar hypoplasia and laminar structure defects.
34                        Two patients-one with cerebellar hypoplasia and the other with posterior fossa
35                           Brain MRI revealed cerebellar hypoplasia and ventriculomegaly.
36 he orthologous Zic1 gene in the mouse causes cerebellar hypoplasia and vertebral defects.
37 e features pathognomonic for JBTS (including cerebellar hypoplasia), and retention of abnormal bulbou
38 odeficiency is associated with microcephaly, cerebellar hypoplasia, and growth retardation.
39  exhibiting hydrocephalus, oligospermia, and cerebellar hypoplasia, and variably expressive phenotype
40 study of Dandy-Walker malformation (DWM) and cerebellar hypoplasia (CBLH).
41 yral pattern of the cortex, hypomyelination, cerebellar hypoplasia, congenital arthrogryposis, and ea
42 /A2 in neural progenitors resulted in severe cerebellar hypoplasia, decreased proliferation of cerebe
43 (GCps) results in reduced GCp proliferation, cerebellar hypoplasia, developmental delay, and motor de
44 sociated with CHARGE syndrome, which include cerebellar hypoplasia, developmental delay, coordination
45            We found that the mouse model has cerebellar hypoplasia due to failure of Purkinje cell de
46   Germline Kif17 deletion in mice results in cerebellar hypoplasia due to reduced CGNP proliferation,
47 viduals with RELN-related lissencephaly with cerebellar hypoplasia from six families have previously
48 ardation, developmental delay, microcephaly, cerebellar hypoplasia, immunodeficiency, and extremely s
49 inically severe variant of DC, also includes cerebellar hypoplasia, immunodeficiency, and intrauterin
50  contribute to GCp proliferative defects and cerebellar hypoplasia in GCp-specific Chd7 mouse mutants
51 N mutations have been associated with severe cerebellar hypoplasia in humans.
52 e and autosomal recessive lissencephaly with cerebellar hypoplasia in man.
53 rebellar granule neuron progenitors leads to cerebellar hypoplasia in mice, due to the impairment of
54 ed DNA damage, p53 activation, apoptosis and cerebellar hypoplasia in mice.
55 proliferative capacity of GCNPs and leads to cerebellar hypoplasia in mice.
56 cts and developmental delay, associated with cerebellar hypoplasia in one case.
57                                    Recently, cerebellar hypoplasia in Ts65Dn mice was rescued by a si
58 tern of neurological abnormalities including cerebellar hypoplasia, learning difficulties, sensorineu
59 uction in cerebral volume, ventriculomegaly, cerebellar hypoplasia, lissencephaly with hydrocephalus,
60 n NPHP, which includes retinal degeneration, cerebellar hypoplasia, liver fibrosis, situs inversus, a
61 les showing ID, agenesis of corpus callosum, cerebellar hypoplasia, microcephaly and ichthyosis, reve
62 ere agenesis of the corpus callosum (n = 4), cerebellar hypoplasia (n = 2), cortical cleft (n = 2), p
63  heart failure; two sisters showed antenatal cerebellar hypoplasia, neonatal respiratory-distress syn
64 ing new mechanistic insights into ciliopathy cerebellar hypoplasia phenotypes.
65 alcifications, ventriculomegaly, pachygyria, cerebellar hypoplasia, porencephalic cysts, periventricu
66                 The results demonstrate that cerebellar hypoplasia produced by chronic gestational ex
67 etes, they had learning difficulties, severe cerebellar hypoplasia, profound sensorineural deafness,
68 elineated in three unrelated boys with BPNH, cerebellar hypoplasia, severe mental retardation, epilep
69 llow coloration of brain tissue and a marked cerebellar hypoplasia that we characterize as kernicteru
70 ord tracts, and spinal nerves accompanied by cerebellar hypoplasia was observed in a colony of labora
71         Inadequate CGNP proliferation causes cerebellar hypoplasia whereas excessive CGNP proliferati
72  with a recessive lissencephaly variant with cerebellar hypoplasia, which matches well with the homoz
73                              These mice show cerebellar hypoplasia with a vermis-midline fusion defec
74 arefaction, severe to mild ventriculomegaly, cerebellar hypoplasia with brainstem dysgenesis, and car
75 ethanol in which the pups exhibited striking cerebellar hypoplasia with increased apoptosis.
76  the same neuroanatomical defects, including cerebellar hypoplasia with Purkinje cell ectopia and dis
77                   Some children had isolated cerebellar hypoplasia, with jitteriness as their present