Syndromes with lissencephaly. I: Miller-Dieker and Norman-Roberts syndromes and isolated lissencephaly.
about
Genes in a refined Smith-Magenis syndrome critical deletion interval on chromosome 17p11.2 and the syntenic region of the mouseIdentification of the functional profilin gene, its localization to chromosome subband 17p13.3, and demonstration of its deletion in some patients with Miller-Dieker syndromeGenes and brain malformations associated with abnormal neuron positioningCenpj/CPAP regulates progenitor divisions and neuronal migration in the cerebral cortex downstream of Ascl1Prenatal ultrasound findings of lissencephaly associated with Miller-Dieker syndrome and comparison with pre- and postnatal magnetic resonance imaging.Genetic analysis of malformations causing perinatal mortalityFamilial half cryptic translocation t(9;17).Detecting deletions in the critical region for lissencephaly on 17p13.3 using fluorescent in situ hybridisation and a PCR assay identifying a dinucleotide repeat polymorphismSyndromes with lissencephaly.Development of fetal brain sulci and gyri: assessment through two and three-dimensional ultrasound and magnetic resonance imaging.Subcortical laminar heterotopia and lissencephaly in two families: a single X linked dominant gene.Molecular genetics of neuronal migration disorders.TUBA1A mutations cause wide spectrum lissencephaly (smooth brain) and suggest that multiple neuronal migration pathways converge on alpha tubulins.Human mutations in NDE1 cause extreme microcephaly with lissencephaly [corrected]Cell migration and cerebral cortical development.Molecular dissection of a contiguous gene syndrome: frequent submicroscopic deletions, evolutionarily conserved sequences, and a hypomethylated "island" in the Miller-Dieker chromosome region.Genotypically defined lissencephalies show distinct pathologies.Mutations in tubulin genes are frequent causes of various foetal malformations of cortical development including microlissencephalyNeuronal migration disorders in microcephalic osteodysplastic primordial dwarfism type I/III.Microdeletions of chromosome 17p13 as a cause of isolated lissencephalyClinical and molecular diagnosis of Miller-Dieker syndrome.Detection of deletions and cryptic translocations in Miller-Dieker syndrome by in situ hybridization.Clinical features and molecular analysis of the alpha thalassemia/mental retardation syndromes. I. Cases due to deletions involving chromosome band 16p13.3.Detection of submicroscopic deletions in band 17p13 in patients with the Miller-Dieker syndrome.Molecular detection of microscopic and submicroscopic deletions associated with Miller-Dieker syndrome.Recently recognized chromosomal defects of clinical importance.Magnetic resonance imaging in developmental disorders of the cerebral cortex.Developmental differences of the major forebrain commissures in lissencephalies.Schizophrenia and epilepsy: is there a shared susceptibility?Lissencephaly: mechanistic insights from animal models and potential therapeutic strategies.The key gluconeogenic enzyme fructose-1,6-bisphosphatase is secreted during prolonged glucose starvation and is internalized following glucose re-feeding via the non-classical secretory and internalizing pathways in Saccharomyces cerevisiae.Unilateral closed lip schizencephaly with septo-optic dysplasia.De novo truncation of chromosome 16p and healing with (TTAGGG)n in the alpha-thalassemia/mental retardation syndrome (ATR-16).Ablation of the 14-3-3gamma Protein Results in Neuronal Migration Delay and Morphological Defects in the Developing Cerebral Cortex.Omphalocele in Miller-Dieker syndrome: expanding the phenotype.Neural migration disorders studied by cerebral ultrasound and colour Doppler flow imaging.Lissencephaly type III, stippled epiphyses and loose, thick skin: a new recessively inherited syndrome.A case of Norman-Roberts syndrome identified from postnatal diagnosis of microlissencephaly.Lissencephaly-pachygyria associated with congenital cytomegalovirus infection.Vid30 is required for the association of Vid vesicles and actin patches in the vacuole import and degradation pathway.
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P2860
Syndromes with lissencephaly. I: Miller-Dieker and Norman-Roberts syndromes and isolated lissencephaly.
description
1984 nî lūn-bûn
@nan
1984年の論文
@ja
1984年論文
@yue
1984年論文
@zh-hant
1984年論文
@zh-hk
1984年論文
@zh-mo
1984年論文
@zh-tw
1984年论文
@wuu
1984年论文
@zh
1984年论文
@zh-cn
name
Syndromes with lissencephaly. ...... es and isolated lissencephaly.
@en
type
label
Syndromes with lissencephaly. ...... es and isolated lissencephaly.
@en
prefLabel
Syndromes with lissencephaly. ...... es and isolated lissencephaly.
@en
P2093
P2860
P356
P1476
Syndromes with lissencephaly. ...... es and isolated lissencephaly.
@en
P2093
Greenberg F
Stratton RF
P2860
P304
P356
10.1002/AJMG.1320180320
P577
1984-07-01T00:00:00Z