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Lissencephaly 2
- ... 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 ...
- ... 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, ...
- ... 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. ...
- ... 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. ...
- ... 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. ...
- ... 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. ...
- ... 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. ...
- ... 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) ...
- The ADGRG1 gene, formerly known as GPR56, provides instructions for making a protein that is critical for normal brain development. Before birth, the ADGRG1 ...
- ... 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. ...