Results 1 -
10
of
20
for
Lissencephaly 1
- ... About This Health Condition LIS1 LIS1_HUMAN LIS2 lissencephaly 1 protein MDCR platelet-activating factor acetylhydrolase 1b, regulatory ... subunit platelet-activating factor acetylhydrolase, isoform Ib, subunit 1 (45kDa) ... region allows genotypic differentiation between isolated lissencephaly, Miller-Dieker syndrome, and other phenotypes secondary to ...
- ... NORD) ClinicalTrials.gov LISSENCEPHALY, X-LINKED, 1; LISX1 LISSENCEPHALY 1; LIS1 LISSENCEPHALY 3; LIS3 PubMed de Wit MC, ... Mancini GM. Long-term follow-up of type 1 lissencephaly: survival is related to neuroimaging abnormalities. Dev Med ...
- ... NORD) ClinicalTrials.gov LISSENCEPHALY, X-LINKED, 1; LISX1 LISSENCEPHALY 1; LIS1 PubMed Bahi-Buisson N, Souville I, Fourniol ... into genotype-phenotype correlations for the doublecortin-related lissencephaly spectrum. Brain. 2013 Jan;136(Pt 1):223-44. doi: 10.1093/brain/aws323. Citation ...
- ... of 17p13 and LIS1 gene mutation in isolated lissencephaly sequence. Pediatr Neurol. 2006 Jul;35(1):42-6. doi: 10.1016/j.pediatrneurol.2005. ...
- ... into genotype-phenotype correlations for the doublecortin-related lissencephaly spectrum. Brain. 2013 Jan;136(Pt 1):223-44. doi: 10.1093/brain/aws323. Citation ...
- ... mutations cause several XLID syndromes, including X-linked lissencephaly with abnormal genitalia, early infantile epileptic encephalopathy 1, and Partington syndrome (described above). Another is X- ...
- ... H, Walsh CA. The role of RELN in lissencephaly and neuropsychiatric disease. Am J Med Genet B Neuropsychiatr Genet. 2007 Jan 5;144B(1):58-63. doi: 10.1002/ajmg.b.30392. ...
- ... H, Walsh CA. The role of RELN in lissencephaly and neuropsychiatric disease. Am J Med Genet B Neuropsychiatr Genet. 2007 Jan 5;144B(1):58-63. doi: 10.1002/ajmg.b.30392. ...
- ... with a YWHAE gene deletion do not have lissencephaly but tend to have other brain abnormalities. 14-3-3 epsilon 14-3-3E 1433E_HUMAN KCIP-1 mitochondrial import stimulation factor L subunit protein kinase ...
- ... LCH). This condition affects brain development, resulting in lissencephaly and an ... B-ALPHA-1 TBA1A_HUMAN TUBA3 tubulin alpha-1A chain tubulin ...