A revision of the lissencephaly and Miller-Dieker syndrome critical regions in chromosome 17p13.3.
about
Maternal genes and facial clefts in offspring: a comprehensive search for genetic associations in two population-based cleft studies from ScandinaviaCloning of the SCA7 gene reveals a highly unstable CAG repeat expansionPoint mutations and an intragenic deletion in LIS1, the lissencephaly causative gene in isolated lissencephaly sequence and Miller-Dieker syndromeRefinement of a 400-kb critical region allows genotypic differentiation between isolated lissencephaly, Miller-Dieker syndrome, and other phenotypes secondary to deletions of 17p13.3Disruption of the ProSAP2 gene in a t(12;22)(q24.1;q13.3) is associated with the 22q13.3 deletion syndromeGenomic organization of the murine Miller-Dieker/lissencephaly region: conservation of linkage with the human region14-3-3epsilon is important for neuronal migration by binding to NUDEL: a molecular explanation for Miller-Dieker syndromeMolecular analysis of an unstable genomic region at chromosome band 11q23 reveals a disruption of the gene encoding the alpha2 subunit of platelet-activating factor acetylhydrolase (Pafah1a2) in human lymphomaOvca1 regulates cell proliferation, embryonic development, and tumorigenesisHuman iPSC-Derived Cerebral Organoids Model Cellular Features of Lissencephaly and Reveal Prolonged Mitosis of Outer Radial GliaEvolutionary conservation of a coding function for D4Z4, the tandem DNA repeat mutated in facioscapulohumeral muscular dystrophyRoles of NUDE and NUDF proteins of Aspergillus nidulans: insights from intracellular localization and overexpression effectsMolecular characterisation of four cases of intrachromosomal triplication of chromosome 15q11-q14.Neuronal migration, cerebral cortical development, and cerebral cortical anomalies.Characterization of physical gap sizes at human telomeres.Neuronal migration disorders, genetics, and epileptogenesis.Isolation of BAC clones spanning the Xq22.3 translocation breakpoint in a lissencephaly patient with a de novo X;2 translocation.Two 22q telomere deletions serendipitously detected by FISHBilateral renal agenesis/hypoplasia/dysplasia (BRAHD): postmortem analysis of 45 cases with breakpoint mapping of two de novo translocationsRecent advances in the genetics of epilepsy: insights from human and animal studies.Molecular genetics of neuronal migration disorders.The effect of translocation-induced nuclear reorganization on gene expression.How to construct a neural tube.The LEF1/beta -catenin complex activates movo1, a mouse homolog of Drosophila ovo required for epidermal appendage differentiationInterstitial Deletions at 6q14.1-q15 Associated with Obesity, Developmental Delay and a Distinct Clinical Phenotype.An optimized set of human telomere clones for studying telomere integrity and architecture.Partial paternal uniparental disomy of chromosome 6 in an infant with neonatal diabetes, macroglossia, and craniofacial abnormalities.The 12q14 microdeletion syndrome: six new cases confirming the role of HMGA2 in growth.Clinical and molecular basis of classical lissencephaly: Mutations in the LIS1 gene (PAFAH1B1).A potential tumor suppressor role for Hic1 in breast cancer through transcriptional repression of ephrin-A1.Mutations in SOX2 cause anophthalmia-esophageal-genital (AEG) syndrome.FRA2A is a CGG repeat expansion associated with silencing of AFF3Miller-Dieker syndrome: analysis of a human contiguous gene syndrome in the mouse."Molecular rulers" for calibrating phenotypic effects of telomere imbalance.Organisation of the pericentromeric region of chromosome 15: at least four partial gene copies are amplified in patients with a proximal duplication of 15qHigh expression of doublecortin and KIAA0369 protein in fetal brain suggests their specific role in neuronal migration.Complex chromosome 17p rearrangements associated with low-copy repeats in two patients with congenital anomaliesMapping of deletion and translocation breakpoints in 1q44 implicates the serine/threonine kinase AKT3 in postnatal microcephaly and agenesis of the corpus callosum.Genetic Analysis of 'PAX6-Negative' Individuals with Aniridia or Gillespie SyndromeThe search for cerebral biomarkers of Huntington's disease: a review of genetic models of age at onset prediction.
P2860
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P2860
A revision of the lissencephaly and Miller-Dieker syndrome critical regions in chromosome 17p13.3.
description
1997 nî lūn-bûn
@nan
1997 թուականի Փետրուարին հրատարակուած գիտական յօդուած
@hyw
1997 թվականի փետրվարին հրատարակված գիտական հոդված
@hy
1997年の論文
@ja
1997年論文
@yue
1997年論文
@zh-hant
1997年論文
@zh-hk
1997年論文
@zh-mo
1997年論文
@zh-tw
1997年论文
@wuu
name
A revision of the lissencephal ...... regions in chromosome 17p13.3.
@ast
A revision of the lissencephal ...... regions in chromosome 17p13.3.
@en
A revision of the lissencephal ...... regions in chromosome 17p13.3.
@nl
type
label
A revision of the lissencephal ...... regions in chromosome 17p13.3.
@ast
A revision of the lissencephal ...... regions in chromosome 17p13.3.
@en
A revision of the lissencephal ...... regions in chromosome 17p13.3.
@nl
prefLabel
A revision of the lissencephal ...... regions in chromosome 17p13.3.
@ast
A revision of the lissencephal ...... regions in chromosome 17p13.3.
@en
A revision of the lissencephal ...... regions in chromosome 17p13.3.
@nl
P2093
P2860
P356
P1476
A revision of the lissencephal ...... regions in chromosome 17p13.3.
@en
P2093
Carrozzo R
Ledbetter DH
Roschke AV
Tanigami A
P2860
P304
P356
10.1093/HMG/6.2.147
P577
1997-02-01T00:00:00Z