Deletion 16p13.11 uncovers NDE1 mutations on the non-deleted homolog and extends the spectrum of severe microcephaly to include fetal brain disruption.
about
Severe NDE1-mediated microcephaly results from neural progenitor cell cycle arrests at multiple specific stagesAxonal transport: cargo-specific mechanisms of motility and regulationCharacterizing the Pattern of Anomalies in Congenital Zika Syndrome for Pediatric CliniciansBurden analysis of rare microdeletions suggests a strong impact of neurodevelopmental genes in genetic generalised epilepsiesThe phenotypic spectrum of congenital Zika syndromeClinical, genetic and imaging findings identify new causes for corpus callosum development syndromes.The scaffold protein Nde1 safeguards the brain genome during S phase of early neural progenitor differentiation.Both rare and de novo copy number variants are prevalent in agenesis of the corpus callosum but not in cerebellar hypoplasia or polymicrogyriaExome sequencing identifies pathogenic variants of VPS13B in a patient with familial 16p11.2 duplicationCopy Number Variations in DISC1 and DISC1-Interacting Partners in Major Mental Illness.NDE1 and NDEL1: twin neurodevelopmental proteins with similar 'nature' but different 'nurture'.Copy number variation analysis in the context of electronic medical records and large-scale genomics consortium efforts.Pathogenic or not? Assessing the clinical relevance of copy number variants.Regulation of neuronal migration, an emerging topic in autism spectrum disorders.Recurrent copy number variations as risk factors for neurodevelopmental disorders: critical overview and analysis of clinical implications.NDE1 and NDEL1 from genes to (mal)functions: parallel but distinct roles impacting on neurodevelopmental disorders and psychiatric illness.Severe congenital microcephaly with 16p13.11 microdeletion combined with NDE1 mutation, a case report and literature review.The NDE1 genomic locus can affect treatment of psychiatric illness through gene expression changes related to microRNA-484.Lissencephaly: Expanded imaging and clinical classification.Analysis of 17 genes detects mutations in 81% of 811 patients with lissencephaly.Fetal brain disruption sequence versus fetal brain arrest: A distinct autosomal recessive developmental brain malformation phenotype.Whole-exome sequence analysis highlights the role of unmasked recessive mutations in copy number variants with incomplete penetrance.Manifestation of recessive combined D-2-, L-2-hydroxyglutaric aciduria in combination with 22q11.2 deletion syndrome.
P2860
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P2860
Deletion 16p13.11 uncovers NDE1 mutations on the non-deleted homolog and extends the spectrum of severe microcephaly to include fetal brain disruption.
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2013 nî lūn-bûn
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Deletion 16p13.11 uncovers NDE ...... nclude fetal brain disruption.
@en
Deletion 16p13.11 uncovers NDE ...... nclude fetal brain disruption.
@nl
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label
Deletion 16p13.11 uncovers NDE ...... nclude fetal brain disruption.
@en
Deletion 16p13.11 uncovers NDE ...... nclude fetal brain disruption.
@nl
prefLabel
Deletion 16p13.11 uncovers NDE ...... nclude fetal brain disruption.
@en
Deletion 16p13.11 uncovers NDE ...... nclude fetal brain disruption.
@nl
P2093
P2860
P50
P356
P1476
Deletion 16p13.11 uncovers NDE ...... nclude fetal brain disruption.
@en
P2093
Alex R Paciorkowski
Christopher Sullivan
Elliott H Sherr
Luther Robinson
Polina Bukshpun
Samin Sajan
Stacy B Gabriel
Susan L Christian
P2860
P304
P356
10.1002/AJMG.A.35969
P407
P577
2013-05-23T00:00:00Z