|
Lissencephaly
|
0.700 |
Biomarker
|
disease |
HPO |
|
|
|
|
Lissencephaly
|
0.700 |
Biomarker
|
disease |
CTD_human |
|
|
|
|
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 |
|
Lissencephaly
|
0.700 |
Biomarker
|
disease |
BEFREE |
Lissencephaly and subcortical band heterotopia are major malformations of cortical development due to abnormal neuronal migration and several genes have been identified including ARX, DCX, LIS1, RELN, TUBA1A, and VLDLR.
|
23583063 |
2013 |
|
Lissencephaly
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Lissencephaly. A human brain malformation associated with deletion of the LIS1 gene located at chromosome 17p13.
|
7907669 |
1993 |
|
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 |
|
Lissencephaly
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
LIS1 was the first gene cloned in an organism, which was deleted or mutated in patients with lissencephaly in a heterozygous fashion.
|
20541031 |
2010 |
|
Lissencephaly
|
0.700 |
Biomarker
|
disease |
BEFREE |
LIS1 was the first gene cloned that was important for neuronal migration in any organism, and heterozygous mutations or deletions of LIS1 are found in the majority of patients with lissencephaly, while DCX mutations were found in males with X-linked lissencephaly.
|
20688183 |
2010 |
|
Lissencephaly
|
0.700 |
Biomarker
|
disease |
BEFREE |
LIS1 heterozygosity is a significant cause of lissencephaly, while overexpression has recently been noted in cases of microcephaly, ventriculomegaly, and dysgenesis of the corpus callosum with normal cortical gyration.
|
22190508 |
2012 |
|
Lissencephaly
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
LIS1 (PAFAH1B1) mutation can impair neuronal migration, causing lissencephaly in humans.
|
23483716 |
2013 |
|
Lissencephaly
|
0.700 |
Biomarker
|
disease |
BEFREE |
LIS1 is implicated in lissencephaly, but altered dosage of LIS1 has been also associated with microcephaly syndromes.
|
31004438 |
2019 |
|
Lissencephaly
|
0.700 |
Biomarker
|
disease |
BEFREE |
LIS1 is a genetic entity that is responsible for lissencephaly.
|
9860301 |
1998 |
|
Lissencephaly
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
A novel inverted 17p13.3 microduplication disrupting PAFAH1B1 (LIS1) in a girl with syndromic lissencephaly.
|
23633430 |
2013 |
|
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 |
|
Lissencephaly
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
An ovel mutation (c.83_84delAT, p.Tyr28Phefs*31) was identified in LIS1 in 1 of the boys with lissencephaly and another novel mutation (c.200delG, p.Ile68Leufs*87) was found in DCX in the girl with subcortical band heterotopia.
|
22408144 |
2012 |
|
Lissencephaly
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
As sequence analysis of the parental chromosomes in the vicinity of the breakpoint identified no additional putative transcripts, haploinsufficiency of the LIS1 gene is likely to be solely responsible for the patient's lissencephaly.
|
9760204 |
1998 |
|
Lissencephaly
|
0.700 |
Biomarker
|
disease |
BEFREE |
Both mutations lead to a classic form of lissencephaly, with a posterior to anterior gradient, almost indistinguishable from LIS1-related lissencephaly.
|
27747449 |
2017 |
|
Lissencephaly
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Brain malformations caused by 17p13.3 deletions include lissencephaly with deletions of the larger Miller-Dieker syndrome region or smaller deletions of only PAFAH1B1, white matter changes, and a distinct syndrome due to deletions including YWHAE and CRK but sparing PAFAH1B1.
|
30568308 |
2019 |
|
Lissencephaly
|
0.700 |
Biomarker
|
disease |
BEFREE |
Deficiency of the LIS1 protein causes lissencephaly, a brain developmental disorder.
|
31562232 |
2019 |
|
Lissencephaly
|
0.700 |
Biomarker
|
disease |
BEFREE |
Evidence for tangential migration disturbances in human lissencephaly resulting from a defect in LIS1, DCX and ARX genes.
|
20461390 |
2010 |
|
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 |
|
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 |
|
Lissencephaly
|
0.700 |
Biomarker
|
disease |
MGD |
Graded reduction of Pafah1b1 (Lis1) activity results in neuronal migration defects and early embryonic lethality.
|
9697693 |
1998 |
|
Lissencephaly
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Heterozygous LIS1 mutations are responsible for the human neuronal migration disorder lissencephaly.
|
24030547 |
2014 |
|
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 |