A novel locus for autosomal recessive primary microcephaly (MCPH6) maps to 13q12.2
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Disruption of mouse Cenpj, a regulator of centriole biogenesis, phenocopies Seckel syndromeSex-dependent association of common variants of microcephaly genes with brain structureCDK6 associates with the centrosome during mitosis and is mutated in a large Pakistani family with primary microcephalyAutosomal Recessive Primary Microcephaly (MCPH): clinical manifestations, genetic heterogeneity and mutation continuumA centrosomal mechanism involving CDK5RAP2 and CENPJ controls brain sizeCrystal structures of the CPAP/STIL complex reveal its role in centriole assembly and human microcephalyAutosomal recessive primary microcephaly (MCPH): a review of clinical, molecular, and evolutionary findingsMicrocephaly models in the developing zebrafish retinal neuroepithelium point to an underlying defect in metaphase progression.Cenpj/CPAP regulates progenitor divisions and neuronal migration in the cerebral cortex downstream of Ascl1Genetic, physiologic and ecogeographic factors contributing to variation in Homo sapiens: Homo floresiensis reconsidered.Previously described sequence variant in CDK5RAP2 gene in a Pakistani family with autosomal recessive primary microcephaly.MCPH1: a window into brain development and evolution.Mutations in microcephalin cause aberrant regulation of chromosome condensation.OSVZ progenitors in the human cortex: an updated perspective on neurodevelopmental disease.A novel MCPH1 isoform complements the defective chromosome condensation of human MCPH1-deficient cells.Cortical malformation and pediatric epilepsy: a molecular genetic approach.Genetic links between brain development and brain evolution.Mutations in STIL, encoding a pericentriolar and centrosomal protein, cause primary microcephaly.A Novel Deletion Mutation in ASPM Gene in an Iranian Family with Autosomal Recessive Primary Microcephaly.Genetic regulation of human brain development: lessons from Mendelian diseases.What's the hype about CDK5RAP2?Cancer predisposing mutations in BRCT domains.Electron Microscopy Structural Insights into CPAP Oligomeric Behavior: A Plausible Assembly Process of a Supramolecular Scaffold of the Centrosome.A translocation breakpoint disrupts the ASPM gene in a patient with primary microcephaly.Protein-truncating mutations in ASPM cause variable reduction in brain size.Analysis of ASPM in an ethnically diverse cohort of 400 patient samples: perspectives of the molecular diagnostic laboratory.Two Missense Mutations in the Primary Autosomal Recessive Microcephaly Gene MCPH1 Disrupt the Function of the Highly Conserved N-Terminal BRCT Domain of Microcephalin.Whole exome sequencing identifies a novel homozygous frameshift mutation in the ASPM gene, which causes microcephaly 5, primary, autosomal recessive.Exploring the implications of INDELs in neuropsychiatric genetics: challenges and perspectives.PPP1R35 is a novel centrosomal protein that regulates centriole length in concert with the microcephaly protein RTTN
P2860
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P2860
A novel locus for autosomal recessive primary microcephaly (MCPH6) maps to 13q12.2
description
2003 nî lūn-bûn
@nan
2003 թուականի Յուլիսին հրատարակուած գիտական յօդուած
@hyw
2003 թվականի հուլիսին հրատարակված գիտական հոդված
@hy
2003年の論文
@ja
2003年論文
@yue
2003年論文
@zh-hant
2003年論文
@zh-hk
2003年論文
@zh-mo
2003年論文
@zh-tw
2003年论文
@wuu
name
A novel locus for autosomal recessive primary microcephaly (MCPH6) maps to 13q12.2
@ast
A novel locus for autosomal recessive primary microcephaly (MCPH6) maps to 13q12.2
@en
A novel locus for autosomal recessive primary microcephaly (MCPH6) maps to 13q12.2
@nl
type
label
A novel locus for autosomal recessive primary microcephaly (MCPH6) maps to 13q12.2
@ast
A novel locus for autosomal recessive primary microcephaly (MCPH6) maps to 13q12.2
@en
A novel locus for autosomal recessive primary microcephaly (MCPH6) maps to 13q12.2
@nl
prefLabel
A novel locus for autosomal recessive primary microcephaly (MCPH6) maps to 13q12.2
@ast
A novel locus for autosomal recessive primary microcephaly (MCPH6) maps to 13q12.2
@en
A novel locus for autosomal recessive primary microcephaly (MCPH6) maps to 13q12.2
@nl
P2093
P356
P1476
A novel locus for autosomal recessive primary microcephaly (MCPH6) maps to 13q12.2
@en
P2093
D J Hampshire
S M R Costa
P356
10.1136/JMG.40.7.540
P407
P577
2003-07-01T00:00:00Z