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Results 1 - 10 of 22 for Lissencephaly 2
  1. Lissencephaly with cerebellar hypoplasia 
    ... the disorder in their family. LCH LIS2 LIS3 Lissencephaly 2 Lissencephaly 3 Lissencephaly syndrome, Norman-Roberts type Norman- ... Cobblestone lissencephaly National Organization for Rare Disorders (NORD) LISSENCEPHALY 2; LIS2 LISSENCEPHALY 3; LIS3 PubMed Chang BS, Duzcan ...
    https://medlineplus.gov/.../lissencephaly-with-cerebellar-hypoplasia - Genetics
  2. X-linked lissencephaly with abnormal genitalia 
    ... linked traits to their sons. LISX2 X-linked lissencephaly 2 X-linked lissencephaly with ambiguous genitalia XLAG XLISG ... abnormal genitalia National Organization for Rare Disorders (NORD) LISSENCEPHALY, X-LINKED, 2; LISX2 PubMed Bonneau D, Toutain A, Laquerriere A, ...
    https://medlineplus.gov/...ked-lissencephaly-with-abnormal-genitalia - Genetics
  3. PAFAH1B1 gene 
    ... in the neuropathology and pathophysiology of type I lissencephaly. Acta Neuropathol. 2011 Feb;121(2):149-70. doi: 10.1007/s00401-010-0768- ... AE, Cushion TD, Pilz DT. The genetics of lissencephaly. Am J Med Genet C Semin Med Genet. 2014 Jun;166C(2):198-210. doi: 10.1002/ajmg.c.31402. ...
    https://medlineplus.gov/genetics/gene/pafah1b1 - Genetics
  4. DCX gene 
    ... in the neuropathology and pathophysiology of type I lissencephaly. Acta Neuropathol. 2011 Feb;121(2):149-70. doi: 10.1007/s00401-010-0768- ... AE, Cushion TD, Pilz DT. The genetics of lissencephaly. Am J Med Genet C Semin Med Genet. 2014 Jun;166C(2):198-210. doi: 10.1002/ajmg.c.31402. ...
    https://medlineplus.gov/genetics/gene/dcx - Genetics
  5. Isolated lissencephaly sequence 
    ... in the neuropathology and pathophysiology of type I lissencephaly. Acta Neuropathol. 2011 Feb;121(2):149-70. doi: 10.1007/s00401-010-0768- ... disorders. Curr Neurol Neurosci Rep. 2011 Apr;11(2):171-8. doi: ... spectrum of mutations and relationships with malformation severity. ...
    https://medlineplus.gov/.../isolated-lissencephaly-sequence - Genetics
  6. ARX gene 
    ... U, Winkler J. ARX mutations in X-linked lissencephaly with abnormal genitalia. Neurology. 2003 Jul 22;61(2):232-5. doi: 10.1212/01.wnl.0000079371. ...
    https://medlineplus.gov/genetics/gene/arx - Genetics
  7. Subcortical band heterotopia 
    ... AE, Cushion TD, Pilz DT. The genetics of lissencephaly. Am J Med Genet C Semin Med Genet. 2014 Jun;166C(2):198-210. doi: 10.1002/ajmg.c.31402. ...
    https://medlineplus.gov/.../condition/subcortical-band-heterotopia - Genetics
  8. Miller-Dieker syndrome 
    ... Clark GD, Prokscha A, Dobyns WB, Eichele G. Lissencephaly associated mutations suggest a requirement for the PAFAH1B heterotrimeric complex in brain development. Mech Dev. 2000 Apr;92(2):263-71. doi: 10.1016/s0925-4773(00) ...
    https://medlineplus.gov/genetics/condition/miller-dieker-syndrome - Genetics
  9. RELN gene 
    ... Hourihane JO, Martin ND, Walsh CA. Autosomal recessive lissencephaly with cerebellar hypoplasia is associated with human RELN mutations. Nat Genet. 2000 Sep;26(1):93-6. doi: 10.1038/79246. Erratum In: Nat Genet 2001 Feb;27(2):225. Citation on PubMed Lakatosova S, Ostatnikova D. ...
    https://medlineplus.gov/genetics/gene/reln - Genetics
  10. Chromosome 17 
    ... of 17p13 and LIS1 gene mutation in isolated lissencephaly sequence. Pediatr ... human genome. Chromosome 17. Genet Test. 1998;2(4):357-81. doi: 10.1089/gte.1998. ...
    https://medlineplus.gov/genetics/chromosome/17 - Genetics
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