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Dobyns, William
One or more keywords matched the following items that are connected to Dobyns, William
Item TypeName
Concept Microcephaly
Academic Article Phenotypic spectrum associated with CASK loss-of-function mutations.
Academic Article Genetic links between brain development and brain evolution.
Academic Article The core FOXG1 syndrome phenotype consists of postnatal microcephaly, severe mental retardation, absent language, dyskinesia, and corpus callosum hypogenesis.
Academic Article Mutations in STAMBP, encoding a deubiquitinating enzyme, cause microcephaly-capillary malformation syndrome.
Academic Article Mutation and evolutionary analyses identify NR2E1-candidate-regulatory mutations in humans with severe cortical malformations.
Academic Article New recessive syndrome of microcephaly, cerebellar hypoplasia, and congenital heart conduction defect.
Academic Article Mutations of CASK cause an X-linked brain malformation phenotype with microcephaly and hypoplasia of the brainstem and cerebellum.
Academic Article The molecular landscape of ASPM mutations in primary microcephaly.
Academic Article Flores hominid: new species or microcephalic dwarf?
Academic Article PRKDC mutations in a SCID patient with profound neurological abnormalities.
Academic Article STIL mutation causes autosomal recessive microcephalic lobar holoprosencephaly.
Academic Article Congenital microcephaly and chorioretinopathy due to de novo heterozygous KIF11 mutations: five novel mutations and review of the literature.
Academic Article WDR62 is associated with the spindle pole and is mutated in human microcephaly.
Academic Article Clinical manifestations and evaluation of isolated lissencephaly.
Academic Article Microcephaly with simplified gyral pattern in six related children.
Academic Article Clinical and brain imaging heterogeneity of severe microcephaly.
Academic Article Primary microcephaly: new approaches for an old disorder.
Academic Article Computed tomographic appearance of lissencephaly syndromes.
Academic Article Recessive developmental delay, small stature, microcephaly and brain calcifications with locus on chromosome 2.
Academic Article Mutations in WDR62, encoding a centrosome-associated protein, cause microcephaly with simplified gyri and abnormal cortical architecture.
Academic Article Deletion 16p13.11 uncovers NDE1 mutations on the non-deleted homolog and extends the spectrum of severe microcephaly to include fetal brain disruption.
Academic Article Mutations in KATNB1 cause complex cerebral malformations by disrupting asymmetrically dividing neural progenitors.
Academic Article Infantile cerebral and cerebellar atrophy is associated with a mutation in the MED17 subunit of the transcription preinitiation mediator complex.
Academic Article Mapping of deletion and translocation breakpoints in 1q44 implicates the serine/threonine kinase AKT3 in postnatal microcephaly and agenesis of the corpus callosum.
Academic Article Cellular and clinical impact of haploinsufficiency for genes involved in ATR signaling.
Academic Article Novel mutations in ATP1A3 associated with catastrophic early life epilepsy, episodic prolonged apnea, and postnatal microcephaly.
Academic Article Syndromes with lissencephaly. I: Miller-Dieker and Norman-Roberts syndromes and isolated lissencephaly.
Academic Article Miller-Dieker syndrome: lissencephaly and monosomy 17p.
Academic Article Polymicrogyria and motor neuropathy in Micro syndrome.
Academic Article Practice parameter: Evaluation of the child with microcephaly (an evidence-based review): report of the Quality Standards Subcommittee of the American Academy of Neurology and the Practice Committee of the Child Neurology Society.
Academic Article CHMP1A encodes an essential regulator of BMI1-INK4A in cerebellar development.
Academic Article Mutations in CENPE define a novel kinetochore-centromeric mechanism for microcephalic primordial dwarfism.
Academic Article Microcephaly, sensorineural deafness and Currarino triad with duplication-deletion of distal 7q.
Academic Article Periventricular heterotopia: phenotypic heterogeneity and correlation with Filamin A mutations.
Academic Article The microcephaly-capillary malformation syndrome.
Academic Article Lissencephaly with cerebellar hypoplasia (LCH): a heterogeneous group of cortical malformations.
Academic Article Comment on "The Brain of LB1, Homo floresiensis".
Academic Article Microcephaly, jejunal atresia, aberrant right bronchus, ocular anomalies, and XY sex reversal.
Academic Article Microlissencephaly: a heterogeneous malformation of cortical development.
Academic Article MICRO syndrome: an entity distinct from COFS syndrome.
Academic Article Bilateral frontoparietal polymicrogyria: clinical and radiological features in 10 families with linkage to chromosome 16.
Academic Article Loss-of-function mutations in RAB18 cause Warburg micro syndrome.
Academic Article Clinical and imaging heterogeneity of polymicrogyria: a study of 328 patients.
Academic Article Mandibulofacial Dysostosis with Microcephaly: Mutation and Database Update.
Academic Article Neuroimaging findings in Mowat-Wilson syndrome: a study of 54 patients.
Academic Article Description of 13 Infants Born During October 2015-January 2016 With Congenital Zika Virus Infection Without Microcephaly at Birth - Brazil.
Academic Article Corrigendum to "Congenital microcephaly and chorioretinopathy due to de novo heterozygous KIF11 mutations: Five novel mutations and review of the literature. Am J Med Genet Part A 2014 164A:2879-86".
Academic Article Congenital Zika virus infection as a silent pathology with loss of neurogenic output in the fetal brain.
Academic Article Homozygous TAF8 mutation in a patient with intellectual disability results in undetectable TAF8 protein, but preserved RNA polymerase II transcription.
Academic Article Tubulinopathies continued: refining the phenotypic spectrum associated with variants in TUBG1.
Academic Article Biallelic loss of function variants in ATP1A2 cause hydrops fetalis, microcephaly, arthrogryposis and extensive cortical malformations.
Academic Article Heterogeneous clinical phenotypes and cerebral malformations reflected by rotatin cellular dynamics.
Academic Article Loss of SMPD4 Causes a Developmental Disorder Characterized by Microcephaly and Congenital Arthrogryposis.
Academic Article Proximal variants in CCND2 associated with microcephaly, short stature, and developmental delay: A case series and review of inverse brain growth phenotypes.
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  • Microcephaly