Skip navigation

Official websites use .gov
A .gov website belongs to an official government organization in the United States.

Secure .gov websites use HTTPS
A lock ( ) or https:// means you’ve safely connected to the .gov website. Share sensitive information only on official, secure websites.

Results 1 - 10 of 20 for Lissencephaly 1
  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) ... between isolated lissencephaly, Miller-Dieker syndrome, and other phenotypes secondary to ...
  2. ... gene mutation Genetic Testing Registry: Lissencephaly type 3 Lissencephaly 1 Disease InfoSearch National Organization for Rare Disorders (NORD) ClinicalTrials.gov LISSENCEPHALY, X-LINKED, 1; LISX1 LISSENCEPHALY 1; LIS1 LISSENCEPHALY 3; LIS3 PubMed de Wit MC, ...
  3. ... 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 ...
  4. ... of 17p13 and LIS1 gene mutation in isolated lissencephaly sequence. Pediatr Neurol. 2006 Jul;35(1):42-6. doi: 10.1016/j.pediatrneurol.2005. ...
  5. ... into genotype-phenotype correlations for the doublecortin-related lissencephaly spectrum. Brain. 2013 Jan;136(Pt 1):223-44. doi: 10.1093/brain/aws323. Citation ...
  6. ... 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- ...
  7. ... 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. ...
  8. ... 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. ...
  9. ... 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 ...
  10. ... LCH). This condition affects brain development, resulting in lissencephaly and ... B-ALPHA-1 TBA1A_HUMAN TUBA3 tubulin alpha-1A chain tubulin ...
previous · 1 · 2 · next