(Q33654193)

24477430

28 July 2017

title

Clinical, genetic and imaging findings identify new causes for corpus callosum development syndromes (English)

1 reference

28 July 2017

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24477430%20AND%20SRC:MED&resulttype=core&format=json

3 June 2020

Linda Richards

series ordinal

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24477430%20AND%20SRC:MED&resulttype=core&format=json

3 June 2020

author name string

Elliott H Sherr

series ordinal

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24477430%20AND%20SRC:MED&resulttype=core&format=json

3 June 2020

A James Barkovich

series ordinal

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24477430%20AND%20SRC:MED&resulttype=core&format=json

3 June 2020

language of work or name

English

0 references

publication date

28 January 2014

1 reference

28 July 2017

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24477430%20AND%20SRC:MED&resulttype=core&format=json

3 June 2020

volume

137

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24477430%20AND%20SRC:MED&resulttype=core&format=json

3 June 2020

issue

Pt 6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24477430%20AND%20SRC:MED&resulttype=core&format=json

3 June 2020

page(s)

1579-1613

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24477430%20AND%20SRC:MED&resulttype=core&format=json

Both rare and de novo copy number variants are prevalent in agenesis of the corpus callosum but not in cerebellar hypoplasia or polymicrogyria

3 June 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4032094

Integration of guidance cues: parallel signaling and crosstalk

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4032094

A novel syndrome caused by the E410K amino acid substitution in the neuronal β-tubulin isotype 3.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4032094

Neuropsychological profile of agenesis of the corpus callosum: a systematic review

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4032094

The Hedgehog signal transduction network

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4032094

Autism traits in individuals with agenesis of the corpus callosum

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4032094

Gli3 controls corpus callosum formation by positioning midline guideposts during telencephalic patterning.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4032094

Counseling in fetal medicine: agenesis of the corpus callosum

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4032094

The spectrum of pyruvate dehydrogenase complex deficiency: clinical, biochemical and genetic features in 371 patients

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4032094

Genetic Overlap between Holoprosencephaly and Kallmann Syndrome.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4032094

Further delineation of novel 1p36 rearrangements by array-CGH analysis: narrowing the breakpoints and clarifying the "extended" phenotype.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4032094

GPSM2 mutations cause the brain malformations and hearing loss in Chudley-McCullough syndrome

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4032094

The ciliogenic transcription factor RFX3 regulates early midline distribution of guidepost neurons required for corpus callosum development

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4032094

A developmental and genetic classification for malformations of cortical development: update 2012

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4032094

Protooncogene Ski cooperates with the chromatin-remodeling factor Satb2 in specifying callosal neurons.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4032094

Neurodevelopment after prenatal diagnosis of isolated agenesis of the corpus callosum: an integrative review

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4032094

Modeling human disease in humans: the ciliopathies

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4032094

Novel FGF8 mutations associated with recessive holoprosencephaly, craniofacial defects, and hypothalamo-pituitary dysfunction

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4032094

Biometry of the corpus callosum in children: MR imaging reference data

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4032094

Lipid modifications of Sonic hedgehog ligand dictate cellular reception and signal response.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4032094

Human L1CAM carrying the missense mutations of the fibronectin-like type III domains is localized in the endoplasmic reticulum and degraded by polyubiquitylation

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4032094

Autosomal Recessive Primary Microcephaly (MCPH): clinical manifestations, genetic heterogeneity and mutation continuum

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4032094

The desmosterolosis phenotype: spasticity, microcephaly and micrognathia with agenesis of corpus callosum and loss of white matter

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4032094

Human mutations in NDE1 cause extreme microcephaly with lissencephaly [corrected]

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4032094

Developmental malformation of the corpus callosum: a review of typical callosal development and examples of developmental disorders with callosal involvement

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4032094

DISC1-dependent switch from progenitor proliferation to migration in the developing cortex

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4032094

Cilia in the nervous system: linking cilia function and neurodevelopmental disorders

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4032094

L1 cell adhesion molecule promotes resistance to alcohol-induced silencing of growth cone responses to guidance cues

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4032094

Development, specification, and diversity of callosal projection neurons.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4032094

The development of the corpus callosum in the healthy human brain

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4032094

Distinct effects of allelic NFIX mutations on nonsense-mediated mRNA decay engender either a Sotos-like or a Marshall-Smith syndrome

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4032094

Molecular regulation of the developing commissural plate

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4032094

Diffusion tensor imaging of Aicardi syndrome

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4032094

Developmental differences of the major forebrain commissures in lissencephalies

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4032094

Birth defects caused by mutations in human GLI3 and mouse Gli3 genes

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4032094

The subplate and early cortical circuits

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4032094

Neuropathology of holoprosencephaly

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4032094

Human TUBB3 mutations perturb microtubule dynamics, kinesin interactions, and axon guidance

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4032094

Transient neuronal populations are required to guide callosal axons: a role for semaphorin 3C

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4032094

Novel subtype-specific genes identify distinct subpopulations of callosal projection neurons

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4032094

Mouse Kif7/Costal2 is a cilia-associated protein that regulates Sonic hedgehog signaling

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4032094

Deletion of YWHAE in a patient with periventricular heterotopias and pronounced corpus callosum hypoplasia.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4032094

Molecular regulation of neuronal migration during neocortical development

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4032094

The level of the transcription factor Pax6 is essential for controlling the balance between neural stem cell self-renewal and neurogenesis

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4032094

Neuropilin 1-Sema signaling regulates crossing of cingulate pioneering axons during development of the corpus callosum

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4032094

Anatomical characterization of human fetal brain development with diffusion tensor magnetic resonance imaging

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4032094

Disrupted in schizophrenia 1 regulates neuronal progenitor proliferation via modulation of GSK3beta/beta-catenin signaling

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4032094

Diffusion abnormalities and reduced volume of the ventral cingulum bundle in agenesis of the corpus callosum: a 3T imaging study.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4032094

Intermediate neuronal progenitors (basal progenitors) produce pyramidal-projection neurons for all layers of cerebral cortex

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4032094

Tbr2 directs conversion of radial glia into basal precursors and guides neuronal amplification by indirect neurogenesis in the developing neocortex

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4032094

The Fezf2-Ctip2 genetic pathway regulates the fate choice of subcortical projection neurons in the developing cerebral cortex

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4032094

Decreased FGF8 signaling causes deficiency of gonadotropin-releasing hormone in humans and mice

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4032094

Cell-autonomous roles of ARX in cell proliferation and neuronal migration during corticogenesis

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4032094

Satb2 is a postmitotic determinant for upper-layer neuron specification in the neocortex

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4032094

Satb2 regulates callosal projection neuron identity in the developing cerebral cortex

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4032094

Atypical Mowat-Wilson patient confirms the importance of the novel association between ZFHX1B/SIP1 and NuRD corepressor complex

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4032094

Clinical and molecular characteristics of 1qter microdeletion syndrome: delineating a critical region for corpus callosum agenesis/hypogenesis.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4032094

Neuroepithelial progenitors undergo LGN-dependent planar divisions to maintain self-renewability during mammalian neurogenesis.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4032094

Area patterning of the mammalian cortex

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4032094

21 June 2018

Mowat-Wilson syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4032094

Monosomy 1p36 deletion syndrome.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4032094

Mapping of deletion and translocation breakpoints in 1q44 implicates the serine/threonine kinase AKT3 in postnatal microcephaly and agenesis of the corpus callosum

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4032094

Mutations in LRP2, which encodes the multiligand receptor megalin, cause Donnai-Barrow and facio-oculo-acoustico-renal syndromes

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4032094

Large spectrum of lissencephaly and pachygyria phenotypes resulting from de novo missense mutations in tubulin alpha 1A (TUBA1A).

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4032094

Agenesis of the corpus callosum: genetic, developmental and functional aspects of connectivity.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4032094

Homozygous silencing of T-box transcription factor EOMES leads to microcephaly with polymicrogyria and corpus callosum agenesis

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4032094

Commissure formation in the mammalian forebrain.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4032094

ZFHX1B mutations in patients with Mowat-Wilson syndrome

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4032094

DISC1-NDEL1/NUDEL protein interaction, an essential component for neurite outgrowth, is modulated by genetic variations of DISC1

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4032094

Inhibition of gap junction communication at ectopic Eph/ephrin boundaries underlies craniofrontonasal syndrome

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4032094

Mutations within Sox2/SOX2 are associated with abnormalities in the hypothalamo-pituitary-gonadal axis in mice and humans

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4032094

White and gray matter development in human fetal, newborn and pediatric brains

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4032094

The timing of cortical neurogenesis is encoded within lineages of individual progenitor cells

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4032094

Doublecortin-like kinase functions with doublecortin to mediate fiber tract decussation and neuronal migration

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4032094

Genetic interactions between doublecortin and doublecortin-like kinase in neuronal migration and axon outgrowth

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4032094

Exuberance in the development of cortical networks

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4032094

Fezl regulates the differentiation and axon targeting of layer 5 subcortical projection neurons in cerebral cortex

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4032094

Genomic microarray analysis identifies candidate loci in patients with corpus callosum anomalies.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4032094

The axon guidance receptor gene ROBO1 is a candidate gene for developmental dyslexia

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4032094

Fezl is required for the birth and specification of corticospinal motor neurons

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4032094

Clinical and genetic aspects of craniofrontonasal syndrome: towards resolving a genetic paradox

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4032094

Axon retraction and degeneration in development and disease

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4032094

Neuronal migration in cortical development

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4032094

Molecular and clinical analyses of Greig cephalopolysyndactyly and Pallister-Hall syndromes: robust phenotype prediction from the type and position of GLI3 mutations

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4032094

The phenotypic spectrum of ARX mutations

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4032094

Neuronal subtype-specific genes that control corticospinal motor neuron development in vivo

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4032094

Pax6, Tbr2, and Tbr1 are expressed sequentially by radial glia, intermediate progenitor cells, and postmitotic neurons in developing neocortex

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4032094

LRP2/megalin is required for patterning of the ventral telencephalon

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4032094

Mutations of CDKL5 cause a severe neurodevelopmental disorder with infantile spasms and mental retardation.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4032094

Mitotic spindle regulation by Nde1 controls cerebral cortical size

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4032094

Mutations of ephrin-B1 (EFNB1), a marker of tissue boundary formation, cause craniofrontonasal syndrome

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4032094

Mutations of the ephrin-B1 gene cause craniofrontonasal syndrome

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4032094

Mutations of ARX are associated with striking pleiotropy and consistent genotype-phenotype correlation

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4032094

Cortical neurons arise in symmetric and asymmetric division zones and migrate through specific phases

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4032094

The development of the human corpus callosum.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4032094

SOX2 functions to maintain neural progenitor identity

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4032094

Smith-Lemli-Opitz syndrome and the DHCR7 gene

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4032094

Hereditary motor and sensory neuropathy with agenesis of the corpus callosum

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4032094

14-3-3epsilon is important for neuronal migration by binding to NUDEL: a molecular explanation for Miller-Dieker syndrome

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4032094

The glial sling is a migratory population of developing neurons

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4032094

21 June 2018

Mowat-Wilson syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4032094

Schizophrenia, neurodevelopment and corpus callosum

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4032094

Refinement of a 400-kb critical region allows genotypic differentiation between isolated lissencephaly, Miller-Dieker syndrome, and other phenotypes secondary to deletions of 17p13.3

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4032094

Abnormal development of forebrain midline glia and commissural projections in Nfia knock-out mice.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4032094

The netrin 1 receptors Unc5h3 and Dcc are necessary at multiple choice points for the guidance of corticospinal tract axons.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4032094

De novo GLI3 mutation in acrocallosal syndrome: broadening the phenotypic spectrum of GLI3 defects and overlap with murine models

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4032094

The role of the anterior commissure in callosal agenesis

21 June 2018

2 references

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4032094

21 June 2018

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWT358

Mutation of ARX causes abnormal development of forebrain and testes in mice and X-linked lissencephaly with abnormal genitalia in humans

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4032094

The K-Cl cotransporter KCC3 is mutant in a severe peripheral neuropathy associated with agenesis of the corpus callosum

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4032094

"Molecular rulers" for calibrating phenotypic effects of telomere imbalance

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4032094

Haploinsufficiency of NSD1 causes Sotos syndrome

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4032094

X-linked lissencephaly with absent corpus callosum and ambiguous genitalia (XLAG): clinical, magnetic resonance imaging, and neuropathological findings

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4032094

Mutations in the human ortholog of Aristaless cause X-linked mental retardation and epilepsy

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4032094

Disease-associated mutations in L1 CAM interfere with ligand interactions and cell-surface expression

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4032094

Loss of the SKI proto-oncogene in individuals affected with 1p36 deletion syndrome is predicted by strain-dependent defects in Ski-/- mice

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4032094

Radial glia is a progenitor of neocortical neurons in the developing cerebral cortex

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4032094

Loss-of-function mutations in SIP1 Smad interacting protein 1 result in a syndromic Hirschsprung disease

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4032094

A role for cingulate pioneering axons in the development of the corpus callosum.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4032094

Hierarchical organization of guidance receptors: silencing of netrin attraction by slit through a Robo/DCC receptor complex

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4032094

Neurons derived from radial glial cells establish radial units in neocortex

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4032094

NUDEL is a novel Cdk5 substrate that associates with LIS1 and cytoplasmic dynein

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4032094

The adhesion signaling molecule p190 RhoGAP is required for morphogenetic processes in neural development

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4032094

Progressive restriction in fate potential by neural progenitors during cerebral cortical development.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4032094

Pathological missense mutations of neural cell adhesion molecule L1 affect homophilic and heterophilic binding activities.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4032094

SIP1, a novel zinc finger/homeodomain repressor, interacts with Smad proteins and binds to 5'-CACCT sequences in candidate target genes

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4032094

Ethanol inhibits L1-mediated neurite outgrowth in postnatal rat cerebellar granule cells

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4032094

Mutations in the Delta7-sterol reductase gene in patients with the Smith-Lemli-Opitz syndrome

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4032094

Doublecortin, a brain-specific gene mutated in human X-linked lissencephaly and double cortex syndrome, encodes a putative signaling protein

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4032094

Phenotype of mice lacking functional Deleted in colorectal cancer (Dcc) gene

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4032094

The neuroimaging findings in Sotos syndrome

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4032094

Netrin-1 is required for commissural axon guidance in the developing vertebrate nervous system

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4032094

The normal and abnormal genu of the corpus callosum: an evolutionary, embryologic, anatomic, and MR analysis.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4032094

The molecular biology of axon guidance

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4032094

Ontogeny of the projection tracts and commissural fibres in the forebrain of the tammar wallaby (Macropus eugenii): timing in comparison with other mammals

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4032094

Defective forebrain development in mice lacking gp330/megalin

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4032094

Differential effects of FGFR2 mutations on syndactyly and cleft palate in Apert syndrome

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4032094

Alcohol inhibits cell-cell adhesion mediated by human L1

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4032094

Mosaic "tetrasomy" 8p: case report and review of the literature

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4032094

CRASH syndrome: clinical spectrum of corpus callosum hypoplasia, retardation, adducted thumbs, spastic paraparesis and hydrocephalus due to mutations in one single gene, L1.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4032094

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4032094

Ethanol inhibits neural cell-cell adhesion

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4032094

Glia-neuron interactions at the midline of the developing mammalian brain and spinal cord

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4032094

X-linked spastic paraplegia (SPG1), MASA syndrome and X-linked hydrocephalus result from mutations in the L1 gene

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4032094

Meta-analysis of corpus callosum size in schizophrenia

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4032094

Apert syndrome results from localized mutations of FGFR2 and is allelic with Crouzon syndrome

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4032094

Mosaic tetrasomy 8p in two patients: clinical data and review of the literature

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4032094

Development of the corpus callosum and cavum septi in man.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4032094

Neurological involvement in the Smith-Lemli-Opitz syndrome: clinical and neuropathological findings

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4032094

Congenital absence of pyramids and its significance in genetic diseases

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4032094

X linked hydrocephalus: a survey of a 20 year period in Victoria, Australia

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4032094

Abnormalities of corpus callosum in patients with inherited metabolic diseases

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4032094

Hand and sex differences in the isthmus and genu of the human corpus callosum. A postmortem morphological study

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4032094

Secondary trisomy or mosaic "tetrasomy" 8p.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4032094

Formation, maturation, and disorders of white matter

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4032094

Mechanisms of interhemispheric transfer and patterns of cognitive function in acallosal patients of normal intelligence

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4032094

Aberrant splicing of neural cell adhesion molecule L1 mRNA in a family with X-linked hydrocephalus

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4032094

The organization and postnatal development of the commissural projection of the rat somatic sensory cortex.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4032094

Smith-Lemli-Opitz syndrome: neuropathological and ophthalmological observations

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4032094

Absence of the corpus callosum: computed tomographic evaluation in infants and children

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4032094

GLI3 zinc-finger gene interrupted by translocations in Greig syndrome families

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4032094

Robo1 regulates the development of major axon tracts and interneuron migration in the forebrain.

28 July 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWT358

Spectrum of epilepsy in terminal 1p36 deletion syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWT358

Further delineation of deletion 1p36 syndrome in 60 patients: a recognizable phenotype and common cause of developmental delay and mental retardation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWT358

Agenesis of the corpus callosum: clinical and genetic study in 63 young patients.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWT358

Primary cilia control telencephalic patterning and morphogenesis via Gli3 proteolytic processing.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWT358

Bilateral field advantage and evoked potential interhemispheric transmission in commissurotomy and callosal agenesis

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWT358

Further molecular and clinical delineation of co-locating 17p13.3 microdeletions and microduplications that show distinctive phenotypes

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWT358

LRP2 is an auxiliary SHH receptor required to condition the forebrain ventral midline for inductive signals.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWT358

GPSM2 mutations in Chudley-McCullough syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWT358

A novel DCC mutation and genetic heterogeneity in congenital mirror movements

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWT358

Loss-of-function mutations in FGFR1 cause autosomal dominant Kallmann syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWT358

Shape and size of the corpus callosum in schizophrenia and schizotypal personality disorder

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWT358

Interstitial deletion 1q42 in a patient with agenesis of corpus callosum: Phenotype-genotype comparison to the 1q41q42 microdeletion suggests a contiguous 1q4 syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWT358

Prenatal diagnosis and outcome of partial agenesis and hypoplasia of the corpus callosum

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWT358

Agenesis of the corpus callosum in California 1983-2003: a population-based study.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWT358

Distinct roles of neuropilin 1 signaling for radial and tangential extension of callosal axons.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWT358

Ongoing sonic hedgehog signaling is required for dorsal midline formation in the developing forebrain

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWT358

Anomalies of the corpus callosum: an MR analysis of the phenotypic spectrum of associated malformations

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWT358

Neuroimaging aspects of Aicardi syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWT358

Neuroradiologic findings in Sotos syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWT358

Joubert syndrome: brain and spinal cord malformations in genotyped cases and implications for neurodevelopmental functions of primary cilia.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWT358

GLI3 frameshift mutations cause autosomal dominant Pallister-Hall syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWT358

Doublecortin maintains bipolar shape and nuclear translocation during migration in the adult forebrain

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWT358

Human ROBO1 regulates interaural interaction in auditory pathways.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWT358

Cellular and molecular tunnels surrounding the forebrain commissures of human fetuses.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWT358

Increased axon number in the anterior commissure of mice lacking a corpus callosum.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWT358

Metopic craniosynostosis due to mutations in GLI3: A novel association.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWT358

Multiple Eph receptors and B-class ephrins regulate midline crossing of corpus callosum fibers in the developing mouse forebrain.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWT358

Delineation of the cryptic 1qter deletion phenotype.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWT358

Analysis of the hypothalamus in a case of X-linked lissencephaly with abnormal genitalia (XLAG).

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWT358

Agenesis of corpus callosum: prenatal diagnosis and prognosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWT358

Microdeletions including YWHAE in the Miller-Dieker syndrome region on chromosome 17p13.3 result in facial dysmorphisms, growth restriction, and cognitive impairment.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWT358

Two specific populations of GABAergic neurons originating from the medial and the caudal ganglionic eminences aid in proper navigation of callosal axons

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWT358

Identification of genomic loci contributing to agenesis of the corpus callosum

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWT358

FGF8 signaling patterns the telencephalic midline by regulating putative key factors of midline development.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWT358

Genetic and functional analyses identify DISC1 as a novel callosal agenesis candidate gene.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWT358

Deletion 16p13.11 uncovers NDE1 mutations on the non-deleted homolog and extends the spectrum of severe microcephaly to include fetal brain disruption.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWT358

Communicative deficits in agenesis of the corpus callosum: nonliteral language and affective prosody

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWT358

Haploinsufficiency of ZNF238 is associated with corpus callosum abnormalities in 1q44 deletions.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWT358

Dandy-Walker complex in a boy with a 5 Mb deletion of region 1q44 due to a paternal t(1;20)(q44;q13.33).

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWT358

Intracranial anomalies detected by imaging studies in 30 patients with Apert syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWT358

Magnetic resonance imaging features and classification of central nervous system malformations in Joubert syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWT358

Tiling path resolution mapping of constitutional 1p36 deletions by array-CGH: contiguous gene deletion or "deletion with positional effect" syndrome?

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWT358

Abnormalities of the corpus callosum in children prenatally exposed to alcohol.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWT358

Refinement of causative genes in monosomy 1p36 through clinical and molecular cytogenetic characterization of small interstitial deletions.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWT358

Craniofrontonasal syndrome: study of 41 patients

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWT358

Agenesis and dysgenesis of the corpus callosum: clinical, genetic and neuroimaging findings in a series of 41 patients.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWT358

Sip1 regulates sequential fate decisions by feedback signaling from postmitotic neurons to progenitors

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWT358

Loss of neuronal potassium/chloride cotransporter 3 (KCC3) is responsible for the degenerative phenotype in a conditional mouse model of hereditary motor and sensory neuropathy associated with agenesis of the corpus callosum.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWT358

Schizophrenia-related neural and behavioral phenotypes in transgenic mice expressing truncated Disc1.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWT358

Structural basis for self-renewal of neural progenitors in cortical neurogenesis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWT358

Axonal guidance during development of the great cerebral commissures: descriptive and experimental studies, in vivo, on the role of preformed glial pathways.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWT358

Postnatally induced formation of the corpus callosum in acallosal mice on glia-coated cellulose bridges.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWT358

Mutations in DCC cause congenital mirror movements.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWT358

Agenesis of the corpus callosum: an MR imaging analysis of associated abnormalities in the fetus

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWT358

Neuroplasticity in human callosal dysgenesis: a diffusion tensor imaging study.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWT358

Essential role of protein kinase B gamma (PKB gamma/Akt3) in postnatal brain development but not in glucose homeostasis

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWT358

Genotype-phenotype correlations in L1 syndrome: a guide for genetic counselling and mutation analysis

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWT358

Variability of homotopic and heterotopic callosal connectivity in partial agenesis of the corpus callosum: a 3T diffusion tensor imaging and Q-ball tractography study.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWT358

Recombinant inbreeding in mice reveals thresholds in embryonic corpus callosum development.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWT358

Morphology of the corpus callosum at different stages of schizophrenia: cross-sectional study in first-episode and chronic illness.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWT358

In utero disappearance of the corpus callosum secondary to extensive brain injury

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWT358

Twenty-six novel EFNB1 mutations in familial and sporadic craniofrontonasal syndrome (CFNS)

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWT358

A molecular mechanism that regulates medially oriented axonal growth of upper layer neurons in the developing neocortex.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWT358

Netrin-DCC signaling regulates corpus callosum formation through attraction of pioneering axons and by modulating Slit2-mediated repulsion.

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4032094

Human motor corpus callosum: topography, somatotopy, and link between microstructure and function.

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4032094

Sotos syndrome (cerebral gigantism): analysis of 8 cases.

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4032094

Abnormalities in neuronal process extension, hippocampal development, and the ventricular system of L1 knockout mice

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4032094

Axons of early generated neurons in cingulate cortex pioneer the corpus callosum.

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4032094

Craniofacial abnormalities, agenesis of the corpus callosum, polysyndactyly and abnormal skin and gut development--the Curry Jones syndrome

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4032094

Imaging, anatomical, and molecular analysis of callosal formation in the developing human fetal brain

30 October 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWT358

Agenesis of the fetal corpus callosum: sonographic signs change with advancing gestational age

21 January 2018

1 reference

12 December 2020

A 2-Mb critical region implicated in the microcephaly associated with terminal 1q deletion syndrome

1 reference

12 December 2020

Toriello-Carey syndrome and unbalanced translocation t(8;18)(p12;q22)

1 reference

12 December 2020

[Interhemispheric transfer and agenesis of the corpus callosum. Capacities and limitations of the anterior commissure]

1 reference

12 December 2020

Toriello-Carey syndrome with a 6Mb interstitial deletion at 22q12 detected by array CGH

1 reference

12 December 2020

Neuroimaging and fetal alcohol spectrum disorders

1 reference

12 December 2020

Normal postnatal development of the corpus callosum as demonstrated by MR imaging

1 reference

12 December 2020

Detection of a novel FH whole gene deletion in the propositus leading to subsequent prenatal diagnosis in a sibship with fumarase deficiency

1 reference

12 December 2020

Molecular analysis and prenatal diagnosis of human fumarase deficiency

1 reference

12 December 2020

Diffusion-weighted magnetic resonance imaging in boys with neural cell adhesion molecule L1 mutations and congenital hydrocephalus

1 reference

12 December 2020

Agenesis of the corpus callosum in mosaic tetrasomy 8p

1 reference

12 December 2020

Identifiers

DOI

10.1093/BRAIN/AWT358

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24477430%20AND%20SRC:MED&resulttype=core&format=json

3 June 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24477430%20AND%20SRC:MED&resulttype=core&format=json

3 June 2020

24477430

1 reference