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Search Results to William B. Dobyns

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One or more keywords matched the following items that are connected to Dobyns, William

Item TypeName
Concept Transcription Factors
Concept PAX2 Transcription Factor
Concept Transcription Factor TFIID
Concept NFI Transcription Factors
Concept Kruppel-Like Transcription Factors
Concept PAX9 Transcription Factor
Concept Forkhead Transcription Factors
Academic Article Mutations of ARX are associated with striking pleiotropy and consistent genotype-phenotype correlation.
Academic Article The core FOXG1 syndrome phenotype consists of postnatal microcephaly, severe mental retardation, absent language, dyskinesia, and corpus callosum hypogenesis.
Academic Article Polyalanine expansion of ARX associated with cryptogenic West syndrome.
Academic Article CDKL5 and ARX mutations in males with early-onset epilepsy.
Academic Article Chiari I malformation, delayed gross motor skills, severe speech delay, and epileptiform discharges in a child with FOXP1 haploinsufficiency.
Academic Article De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndrome.
Academic Article Mutation of FOXC1 and PITX2 induces cerebral small-vessel disease.
Academic Article Mutation of ARX causes abnormal development of forebrain and testes in mice and X-linked lissencephaly with abnormal genitalia in humans.
Academic Article Homonucleotide expansion and contraction mutations of PAX2 and inclusion of Chiari 1 malformation as part of renal-coloboma syndrome.
Academic Article Targeted loss of Arx results in a developmental epilepsy mouse model and recapitulates the human phenotype in heterozygous females.
Academic Article X-linked lissencephaly with abnormal genitalia as a tangential migration disorder causing intractable epilepsy: proposal for a new term, "interneuronopathy".
Academic Article Autosomal dominant optic nerve colobomas, vesicoureteral reflux, and renal anomalies.
Academic Article Genotypically defined lissencephalies show distinct pathologies.
Academic Article FOXC1 is required for normal cerebellar development and is a major contributor to chromosome 6p25.3 Dandy-Walker malformation.
Academic Article No major role for the EMX2 gene in schizencephaly.
Academic Article A novel mechanistic spectrum underlies glaucoma-associated chromosome 6p25 copy number variation.
Academic Article Heterozygous deletion of the linked genes ZIC1 and ZIC4 is involved in Dandy-Walker malformation.
Academic Article Epilepsy and outcome in FOXG1-related disorders.
Academic Article Lissencephaly and the molecular basis of neuronal migration.
Academic Article Expansion of the first PolyA tract of ARX causes infantile spasms and status dystonicus.
Academic Article Corpus callosum agenesis, severe mental retardation, epilepsy, and dyskinetic quadriparesis due to a novel mutation in the homeodomain of ARX.
Academic Article Mutation of the PAX2 gene in a family with optic nerve colobomas, renal anomalies and vesicoureteral reflux.
Academic Article MEF2C Haploinsufficiency features consistent hyperkinesis, variable epilepsy, and has a role in dorsal and ventral neuronal developmental pathways.
Academic Article Familial recurrences of FOXG1-related disorder: Evidence for mosaicism.
Academic Article Astroglial-Mediated Remodeling of the Interhemispheric Midline Is Required for the Formation of the Corpus Callosum.
Academic Article Phenotype Differentiation of FOXG1 and MECP2 Disorders: A New Method for Characterization of Developmental Encephalopathies.
Academic Article Phenotypic outcomes in Mouse and Human Foxc1 dependent Dandy-Walker cerebellar malformation suggest shared mechanisms.
Academic Article NFIB Haploinsufficiency Is Associated with Intellectual Disability and Macrocephaly.
Academic Article Homozygous TAF8 mutation in a patient with intellectual disability results in undetectable TAF8 protein, but preserved RNA polymerase II transcription.
Academic Article Mutations in MAST1 Cause Mega-Corpus-Callosum Syndrome with Cerebellar Hypoplasia and Cortical Malformations.
Academic Article Hypomorphic Recessive Variants in SUFU Impair the Sonic Hedgehog Pathway and Cause Joubert Syndrome with Cranio-facial and Skeletal Defects.

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