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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 Pedigree
Academic Article Periventricular nodular heterotopia in patients with filamin-1 gene mutations: neuroimaging findings.
Academic Article Mutations in filamin 1 prevent migration of cerebral cortical neurons in human periventricular heterotopia.
Academic Article Nonsyndromic mental retardation and cryptogenic epilepsy in women with doublecortin gene mutations.
Academic Article Mutations of ARX are associated with striking pleiotropy and consistent genotype-phenotype correlation.
Academic Article Recurrent 16p11.2 microdeletions in autism.
Academic Article Hereditary hyperekplexia caused by novel mutations of GLRA1 in Turkish families.
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 Identification of a novel recessive RELN mutation using a homozygous balanced reciprocal translocation.
Academic Article Risk of abnormal pregnancy outcome in carriers of balanced reciprocal translocations involving the Miller-Dieker syndrome (MDS) critical region in chromosome 17p13.3.
Academic Article Familial hydrocephalus with normal cognition and distinctive radiological features.
Academic Article Unbalanced der(5)t(5;20) translocation associated with megalencephaly, perisylvian polymicrogyria, polydactyly and hydrocephalus.
Academic Article Mutations in the O-mannosyltransferase gene POMT1 give rise to the severe neuronal migration disorder Walker-Warburg syndrome.
Academic Article Ethnically diverse causes of Walker-Warburg syndrome (WWS): FCMD mutations are a more common cause of WWS outside of the Middle East.
Academic Article AP1S2 is mutated in X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizures (Pettigrew syndrome).
Academic Article Familial pericentric and paracentric inversions of chromosome 1.
Academic Article Characterization of mutations in the gene doublecortin in patients with double cortex syndrome.
Academic Article Microcephaly with simplified gyral pattern in six related children.
Academic Article Mutations in POMT1 are found in a minority of patients with Walker-Warburg syndrome.
Academic Article Rapid-onset dystonia-parkinsonism.
Academic Article Rapid-onset dystonia-parkinsonism: linkage to chromosome 19q13.
Academic Article Homonucleotide expansion and contraction mutations of PAX2 and inclusion of Chiari 1 malformation as part of renal-coloboma syndrome.
Academic Article Mutations in WDR62, encoding a centrosome-associated protein, cause microcephaly with simplified gyri and abnormal cortical architecture.
Academic Article X-linked hereditary hemihypotrophy hemiparesis hemiathetosis.
Academic Article Detection of deletions and cryptic translocations in Miller-Dieker syndrome by in situ hybridization.
Academic Article Somatic and germline mosaic mutations in the doublecortin gene are associated with variable phenotypes.
Academic Article Evidence for genetic heterogeneity in tuberous sclerosis: one locus on chromosome 9 and at least one locus elsewhere.
Academic Article Autosomal dominant optic nerve colobomas, vesicoureteral reflux, and renal anomalies.
Academic Article Cobblestone lissencephaly with normal eyes and muscle.
Academic Article Molecular analysis of the Smith-Magenis syndrome: a possible contiguous-gene syndrome associated with del(17)(p11.2).
Academic Article Rapid-onset dystonia-parkinsonism in a second family.
Academic Article Variable phenotype of rapid-onset dystonia-parkinsonism.
Academic Article X-linked malformations of neuronal migration.
Academic Article Mutations in the oligophrenin-1 gene (OPHN1) cause X linked congenital cerebellar hypoplasia.
Academic Article AHI1 mutations cause both retinal dystrophy and renal cystic disease in Joubert syndrome.
Academic Article Diencephalic-mesencephalic junction dysplasia: a novel recessive brain malformation.
Academic Article Clinical and genetic distinction between Walker-Warburg syndrome and muscle-eye-brain disease.
Academic Article Autosomal dominant cerebellar ataxia (SCA6) associated with small polyglutamine expansions in the alpha 1A-voltage-dependent calcium channel.
Academic Article Mutations and polymorphisms in the tuberous sclerosis complex gene on chromosome 16.
Academic Article Linkage and physical mapping of X-linked lissencephaly/SBH (XLIS): a gene causing neuronal migration defects in human brain.
Academic Article Cerebellar ataxia with progressive improvement.
Academic Article Valproate-induced liver failure in one of two siblings with Alpers disease.
Academic Article Patient with bilateral periventricular nodular heterotopia and polymicrogyria with apparently balanced reciprocal translocation t(1;6)(p12;p12.2) that interrupts the mannosidase alpha, class 1A, and glutathione S-transferase A2 genes.
Academic Article Incomplete penetrance with normal MRI in a woman with germline mutation of the DCX gene.
Academic Article A homozygous nonsense mutation in the fukutin gene causes a Walker-Warburg syndrome phenotype.
Academic Article Linkage to chromosome 2q36.1 in autosomal dominant Dandy-Walker malformation with occipital cephalocele and evidence for genetic heterogeneity.
Academic Article Copy number and sequence variants implicate APBA2 as an autism candidate gene.
Academic Article Spinocerebellar ataxia type 6: gaze-evoked and vertical nystagmus, Purkinje cell degeneration, and variable age of onset.
Academic Article Molecular detection of microscopic and submicroscopic deletions associated with Miller-Dieker syndrome.
Academic Article Periventricular heterotopia: phenotypic heterogeneity and correlation with Filamin A mutations.
Academic Article Novel mutations including deletions of the entire OFD1 gene in 30 families with type 1 orofaciodigital syndrome: a study of the extensive clinical variability.
Academic Article Cerebrospinal fluid homovanillic acid levels in rapid-onset dystonia-parkinsonism.
Academic Article The NPHP1 gene deletion associated with juvenile nephronophthisis is present in a subset of individuals with Joubert syndrome.
Academic Article Molar tooth sign of the midbrain-hindbrain junction: occurrence in multiple distinct syndromes.
Academic Article A locus for bilateral perisylvian polymicrogyria maps to Xq28.
Academic Article Germline and mosaic mutations of FLN1 in men with periventricular heterotopia.
Academic Article Familial perisylvian polymicrogyria: a new familial syndrome of cortical maldevelopment.
Academic Article Bilateral frontoparietal polymicrogyria: clinical and radiological features in 10 families with linkage to chromosome 16.
Academic Article Expansion of the first PolyA tract of ARX causes infantile spasms and status dystonicus.
Academic Article Genotype-phenotype analysis of human frontoparietal polymicrogyria syndromes.
Academic Article Corpus callosum agenesis, severe mental retardation, epilepsy, and dyskinetic quadriparesis due to a novel mutation in the homeodomain of ARX.
Academic Article Loss-of-function mutations in RAB18 cause Warburg micro syndrome.
Academic Article Mutation of the PAX2 gene in a family with optic nerve colobomas, renal anomalies and vesicoureteral reflux.
Academic Article A novel SIX3 mutation segregates with holoprosencephaly in a large family.
Academic Article Mutations in EXOSC2 are associated with a novel syndrome characterised by retinitis pigmentosa, progressive hearing loss, premature ageing, short stature, mild intellectual disability and distinctive gestalt.
Academic Article Human mutations in integrator complex subunits link transcriptome integrity to brain development.
Academic Article Autosomal-dominant early-onset spastic paraparesis with brain calcification due to IFIH1 gain-of-function.
Academic Article Biallelic loss of human CTNNA2, encoding aN-catenin, leads to ARP2/3 complex overactivity and disordered cortical neuronal migration.
Academic Article Primary brain calcification: an international study reporting novel variants and associated phenotypes.
Academic Article Loss of SMPD4 Causes a Developmental Disorder Characterized by Microcephaly and Congenital Arthrogryposis.
Academic Article Bi-allelic Loss of Human APC2, Encoding Adenomatous Polyposis Coli Protein 2, Leads to Lissencephaly, Subcortical Heterotopia, and Global Developmental Delay.
Academic Article Pathogenic Variants in CEP85L Cause Sporadic and Familial Posterior Predominant Lissencephaly.
Academic Article Activating variants in PDGFRB result in a spectrum of disorders responsive to imatinib monotherapy.

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