Počet záznamov: 1
lissencefálie klasické a heterotopie subkortikálne pruhovité
SYS d054221 LBL 00000nx--j2200000---45-- 005 20240119200818.4 100 $a 20080101asloy0103----ba0 152 $b mesh 250 $a lissencefálie klasické a heterotopie subkortikálne pruhovité $x BL $x CF $x CI $x CL $x CO $x DG $x DH $x DI $x DT $x EC $x EH $x EM $x EN $x EP $x ET $x GE $x HI $x IM $x ME $x MI $x MO $x NU $x PA $x PC $x PP $x PS $x PX $x RH $x RT $x SU $x TH $x UR $x VE $x VI $8 slo 300 1-
$a 2008 $8 eng 300 1-
$a Cerebral Cortex/abnormalities (1993-2007) $8 eng 330 1-
$a Disorders comprising a spectrum of brain malformations representing the paradigm of a diffuse neuronal migration disorder. They result in cognitive impairment; SEIZURES; and HYPOTONIA or spasticity. Mutations of two genes, LIS1, the gene for the non-catalytic subunit of PLATELET-ACTIVATING FACTOR ACETYLHYDROLASE IB; and DCX or XLIS, the gene for doublecortin, have been identified as the most common causes of disorders in this spectrum. Additional variants of classical (Type I) lissencephaly have been linked to RELN, the gene for reelin, and ARX, the gene for aristaless related homeobox protein. (From Leventer, R.J., et al, Mol Med Today. 2000 Jul;6(7):277-84 and Barkovich, A.J., et al, Neurology. 2005 Dec 27;65(12):1873-87.) $8 eng 450 $a Heterotopia, Subcortical Band $5 e $8 eng 450 $a Lissencephalies, Classical $5 e $8 eng 450 $a Lissencephaly, Type 1 $5 e $8 eng 450 $a Lissencephaly, X-Linked $5 e $8 eng 450 $a Lissencephaly-Subcortical Band Heterotopia $5 e $8 eng 450 $a Miller-Dieker Syndrome $5 e $8 eng 450 $a Subcortical Band Heterotopia $5 e $8 eng 450 $a lissencefálie klasické a heterotopie subkortikálne pruhovité $5 e $8 slo 450 $a heterotopia podkôrová pruhovitá $5 e $8 slo 450 $a lissencefálie klasické $5 e $8 slo 450 $a lissencefália, typ 1 $5 e $8 slo 450 $a lissencefália typu 1 $5 e $8 slo 450 $a lissencefália viazaná na X-chromozóm $5 e $8 slo 450 $a lissencefália – subkortikálna pruhovitá heterotopia $5 e $8 slo 450 $a Miller-Diekerov syndróm $5 e $8 slo 450 $a Millerov-Diekerov syndróm $5 e $8 slo 550 $3 sllk_un_auth*d000089662 $Y Doublecortin Protein $5 B $a proteín s dvojitým kortínom 686 $a C10.500.507.450.230 686 $a C10.500.507.450.499.230 686 $a C16.131.666.507.450.230 686 $a C16.131.666.507.450.499.230 686 $a C16.320.322.500.186 750 $a Classical Lissencephalies and Subcortical Band Heterotopias $8 eng 801 -0
$a SK $b BA006 $c 20080318 801 -2
$a SK $b BA006 $c 20220301 980 $x M
Počet záznamov: 1