Disease: Lissencephaly ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0266463
Disease: Lissencephaly
Lissencephaly 		0.700 GeneticVariation disease BEFREE An isolated case of lissencephaly caused by the insertion of a mitochondrial genome-derived DNA sequence into the 5' untranslated region of the PAFAH1B1 (LIS1) gene. 20846927 2010
CUI: C0266463
Disease: Lissencephaly
Lissencephaly 		0.700 GeneticVariation disease BEFREE In 52 patients with ILS, we identified 12 deletions and 6 duplications involving the LIS1 gene (35%), with the majority resulting in grade 3 lissencephaly. 19050731 2009
CUI: C0266463
Disease: Lissencephaly
Lissencephaly 		0.700 GeneticVariation disease BEFREE Full chromosome studies in the parents and the proband and mutation analysis on peripheral blood lymphocytes (and on skin cultured fibroblasts from affected and unaffected skin areas in the child) in the genes for subcortical band heterotopia (DCX (Xq22.3-q23)], lissencephaly (PAFAH1B1, alias LIS1, at 17p13.3), and oculocerebrorenal syndrome of Lowe (OCRL at Xq23-q24)] were unrevealing. 19380077 2009
CUI: C0266463
Disease: Lissencephaly
Lissencephaly 		0.700 Biomarker disease BEFREE In addition, neither the mutation type nor the location of the mutation were found to predict the severity of LIS1-related lissencephaly. 19667223 2009
CUI: C0266463
Disease: Lissencephaly
Lissencephaly 		0.700 GeneticVariation disease BEFREE Point mutations or deletion copy number variants of the PAFAH1B1 gene in this genomic region cause lissencephaly, whereas extended deletions involving both PAFAH1B1 and YWHAE result in Miller-Dieker syndrome characterised by facial dysmorphisms and a more severe grade of lissencephaly. 19584063 2009
CUI: C0266463
Disease: Lissencephaly
Lissencephaly 		0.700 Biomarker disease BEFREE Our data highlight the presence of consistent and specific abnormalities that should allow the differentiation of TUBA1A related lissencephalies from those related to LIS1, DCX and ARX genes. 18728072 2008
CUI: C0266463
Disease: Lissencephaly
Lissencephaly 		0.700 Biomarker disease BEFREE The Lis1+/- mouse is a model for lissencephaly; mice exhibit neuronal migration defects but are viable and fertile. 18075263 2008
CUI: C0266463
Disease: Lissencephaly
Lissencephaly 		0.700 GeneticVariation disease BEFREE High frequency of genomic deletions--and a duplication--in the LIS1 gene in lissencephaly: implications for molecular diagnosis. 18285425 2008
CUI: C0266463
Disease: Lissencephaly
Lissencephaly 		0.700 Biomarker disease BEFREE PAFAH1B1/LIS1 and YWHAE, which were deleted in isolated lissencephaly (PAFAH1B1/LIS1 alone) and Miller-Dieker syndrome (both genes), were found to be duplicated in patients with developmental delay. 19287139 2008
CUI: C0266463
Disease: Lissencephaly
Lissencephaly 		0.700 GeneticVariation disease BEFREE LIS1 was first gene cloned in an organism important for neuronal migration, as it was deleted or mutated in patients with lissencephaly in a heterozygous fashion. 17850624 2007
CUI: C0266463
Disease: Lissencephaly
Lissencephaly 		0.700 GeneticVariation disease BEFREE Miller-Dieker syndrome represents a microdeletion syndrome spanning the LIS1 locus at 17p13.3, the deletion of which leads to lissencephaly. 17437911 2007
CUI: C0266463
Disease: Lissencephaly
Lissencephaly 		0.700 Biomarker disease BEFREE Identifying these mechanisms has shed light on typical human neuronal migration disorders such as periventricular heterotopias (disorder of migration initiation linked to filamin), type I lissencephaly (cytoskeletal abnormality linked to Lis1, a microtubule-associated protein), double cortex syndrome (cytoskeletal abnormality linked to doublecortin, a microtubule-associated protein), or lissencephaly plus cerebellar hypoplasia (reelin defect). 16538086 2006
CUI: C0266463
Disease: Lissencephaly
Lissencephaly 		0.700 GeneticVariation disease BEFREE Lissencephaly-pachygyria and subcortical band heterotopia (SBH) are disorders of neuronal migration and represent a malformative spectrum resulting from mutations of either LIS1 or DCX genes. 16724181 2006
CUI: C0266463
Disease: Lissencephaly
Lissencephaly 		0.700 Biomarker disease BEFREE In order to test the hypothesis that these features may be related with genes that regulate neuronal migration, we analyzed two genomic regions: the lissencephaly critical region (chromosome 17p) encompassing the LIS1 gene and which is involved in human lissencephaly; and the genes related to the platelet-activating-factor, functionally related to LIS1, in 52 schizophrenic patients, 36 bipolar I patients and 65 normal control subjects. 16549273 2006
CUI: C0266463
Disease: Lissencephaly
Lissencephaly 		0.700 GeneticVariation disease BEFREE Most cases of lissencephaly-pachygyria are caused by mutations of LIS1 and XLIS genes. 15816977 2005
CUI: C0266463
Disease: Lissencephaly
Lissencephaly 		0.700 Biomarker disease BEFREE Nudel has previously been shown to bind Lis1, a gene underlying lissencephaly in humans. 14962739 2004
CUI: C0266463
Disease: Lissencephaly
Lissencephaly 		0.700 GeneticVariation disease BEFREE On the basis of recent functional data and the creation of a mouse model suggesting a role for 14-3-3 epsilon in cortical development, we suggest that deletion of one or both of these genes in combination with deletion of LIS1 may contribute to the more severe form of lissencephaly seen only in patients with MDS. 12621583 2003
CUI: C0266463
Disease: Lissencephaly
Lissencephaly 		0.700 GeneticVariation disease BEFREE Somatic mosaicism has previously been hypothesized in a patient with posteriorly predominant SBH and a mutation of the LIS1 gene, which is usually mutated in patients with severe lissencephaly. 14581661 2003
CUI: C0266463
Disease: Lissencephaly
Lissencephaly 		0.700 Biomarker disease BEFREE For example, holoprosencephaly is associated with HPE genes, hydrocephalus with L1-CAM and lissencephaly with LIS-1. 12820004 2003
CUI: C0266463
Disease: Lissencephaly
Lissencephaly 		0.700 GeneticVariation disease BEFREE This is supported by models such as the reeler mouse, in which the dysfunctional extracellular matrix molecule leads to a form of lissencephaly in mouse and human, but there is a far less impressive association with seizures than for LIS1 mutations. 12040900 2002
CUI: C0266463
Disease: Lissencephaly
Lissencephaly 		0.700 GeneticVariation disease BEFREE The genetic analysis of human brain malformations has identified several biochemical players in this process, including doublecortin (DCX) and LIS1, mutations of which cause a profound migratory disturbance known as lissencephaly ('smooth brain') in humans. 11389474 2001
CUI: C0266463
Disease: Lissencephaly
Lissencephaly 		0.700 GeneticVariation disease BEFREE Most patients with lissencephaly secondary to LIS1 mutations have a severe malformation consisting of generalized agyria and pachygyria. 11502906 2001
CUI: C0266463
Disease: Lissencephaly
Lissencephaly 		0.700 GeneticVariation disease BEFREE The most frequent forms of lissencephaly (agyria-pachygyria) are caused by mutations of LIS1. 11579436 2001
CUI: C0266463
Disease: Lissencephaly
Lissencephaly 		0.700 Biomarker disease MGD To study the function of the gene mutated in lissencephaly (LIS1), we deleted the first coding exon from the mouse Lis1 gene. 11344260 2001
CUI: C0266463
Disease: Lissencephaly
Lissencephaly 		0.700 GeneticVariation disease BEFREE Our results suggest that the lissencephaly severity in ILS caused by LIS1 mutations may be predicted by the type and location of the mutation. 11115846 2000