|
Lissencephaly, X-Linked, 1
|
|
0.800 |
GeneticVariation
|
UNIPROT |
A novel DCX missense mutation in a family with X-linked lissencephaly and subcortical band heterotopia syndrome inherited from a low-level somatic mosaic mother: Genetic and functional studies.
|
27292316 |
2016 |
|
Lissencephaly, X-Linked, 1
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Somatic mosaicism and variable penetrance in doublecortin-associated migration disorders.
|
12552055 |
2003 |
|
Lissencephaly, X-Linked, 1
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Subcortical band heterotopia (SBH) in males: clinical, imaging and genetic findings in comparison with females.
|
12390976 |
2002 |
|
Lissencephaly, X-Linked, 1
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Incomplete penetrance with normal MRI in a woman with germline mutation of the DCX gene.
|
11468322 |
2001 |
|
Lissencephaly, X-Linked, 1
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Mutation analysis of the DCX gene and genotype/phenotype correlation in subcortical band heterotopia.
|
11175293 |
2001 |
|
Lissencephaly, X-Linked, 1
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Mutation of the doublecortin gene in male patients with double cortex syndrome: somatic mosaicism detected by hair root analysis.
|
11601509 |
2001 |
|
Lissencephaly, X-Linked, 1
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Genetic alteration of the DCX gene in Japanese patients with subcortical laminar heterotopia or isolated lissencephaly sequence.
|
10807542 |
2000 |
|
Lissencephaly, X-Linked, 1
|
|
0.800 |
GeneticVariation
|
UNIPROT |
A novel mutation of the doublecortin gene in Japanese patients with X-linked lissencephaly and subcortical band heterotopia.
|
10369164 |
1999 |
|
Lissencephaly, X-Linked, 1
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Characterization of mutations in the gene doublecortin in patients with double cortex syndrome.
|
9989615 |
1999 |
|
Lissencephaly, X-Linked, 1
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Subcortical band heterotopia in rare affected males can be caused by missense mutations in DCX (XLIS) or LIS1.
|
10441340 |
1999 |
|
Lissencephaly, X-Linked, 1
|
|
0.800 |
GeneticVariation
|
UNIPROT |
doublecortin is the major gene causing X-linked subcortical laminar heterotopia (SCLH).
|
9618162 |
1998 |
|
Lissencephaly, X-Linked, 1
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Human doublecortin (DCX) and the homologous gene in mouse encode a putative Ca2+-dependent signaling protein which is mutated in human X-linked neuronal migration defects.
|
9668176 |
1998 |
|
Lissencephaly, X-Linked, 1
|
|
0.800 |
GeneticVariation
|
UNIPROT |
LIS1 and XLIS (DCX) mutations cause most classical lissencephaly, but different patterns of malformation.
|
9817918 |
1998 |
|
Lissencephaly, X-Linked, 1
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Doublecortin, a brain-specific gene mutated in human X-linked lissencephaly and double cortex syndrome, encodes a putative signaling protein.
|
9489700 |
1998 |
|
Lissencephaly, X-Linked, 1
|
|
0.800 |
GeneticVariation
|
UNIPROT |
A novel CNS gene required for neuronal migration and involved in X-linked subcortical laminar heterotopia and lissencephaly syndrome.
|
9489699 |
1998 |
|
Lissencephaly, X-Linked, 1
|
|
0.800 |
CausalMutation
|
CLINVAR |
|
|
|