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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 Developmental Disabilities
Concept Child Development Disorders, Pervasive
Concept Language Development Disorders
Concept Disorders of Sex Development
Concept Embryonic and Fetal Development
Concept Gene Expression Regulation, Developmental
Concept Malformations of Cortical Development
Concept Bone Diseases, Developmental
Academic Article Mutations in filamin 1 prevent migration of cerebral cortical neurons in human periventricular heterotopia.
Academic Article Copy number variants and infantile spasms: evidence for abnormalities in ventral forebrain development and pathways of synaptic function.
Academic Article Genetic links between brain development and brain evolution.
Academic Article A novel missense mutation in LIS1 in a child with subcortical band heterotopia and pachygyria inherited from his mildly affected mother with somatic mosaicism.
Academic Article Mutations in STAMBP, encoding a deubiquitinating enzyme, cause microcephaly-capillary malformation syndrome.
Academic Article Unbalanced der(5)t(5;20) translocation associated with megalencephaly, perisylvian polymicrogyria, polydactyly and hydrocephalus.
Academic Article Band-like intracranial calcification with simplified gyration and polymicrogyria: a distinct "pseudo-TORCH" phenotype.
Academic Article Megalencephaly-capillary malformation (MCAP) and megalencephaly-polydactyly-polymicrogyria-hydrocephalus (MPPH) syndromes: two closely related disorders of brain overgrowth and abnormal brain and body morphogenesis.
Academic Article Recessive mutations in the gene encoding the tight junction protein occludin cause band-like calcification with simplified gyration and polymicrogyria.
Academic Article Developmental aspects of lissencephaly and the lissencephaly syndromes.
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 ARX causes abnormal development of forebrain and testes in mice and X-linked lissencephaly with abnormal genitalia in humans.
Academic Article Genetic and biologic classification of infantile spasms.
Academic Article Recessive developmental delay, small stature, microcephaly and brain calcifications with locus on chromosome 2.
Academic Article Clinical nosologic and genetic aspects of Joubert and related syndromes.
Academic Article Targeted loss of Arx results in a developmental epilepsy mouse model and recapitulates the human phenotype in heterozygous females.
Academic Article A classification scheme for malformations of cortical development.
Academic Article The duplication 17p13.3 phenotype: analysis of 21 families delineates developmental, behavioral and brain abnormalities, and rare variant phenotypes.
Academic Article A developmental classification of malformations of the brainstem.
Academic Article Significant overlap and possible identity of macrocephaly capillary malformation and megalencephaly polymicrogyria-polydactyly hydrocephalus syndromes.
Academic Article Lissencephaly associated mutations suggest a requirement for the PAFAH1B heterotrimeric complex in brain development.
Academic Article De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes.
Academic Article Periventricular heterotopia in 6q terminal deletion syndrome: role of the C6orf70 gene.
Academic Article Radiologic classification of malformations of cortical development.
Academic Article Both rare and de novo copy number variants are prevalent in agenesis of the corpus callosum but not in cerebellar hypoplasia or polymicrogyria.
Academic Article FOXC1 is required for normal cerebellar development and is a major contributor to chromosome 6p25.3 Dandy-Walker malformation.
Academic Article A developmental and genetic classification for malformations of cortical development.
Academic Article Lissencephaly and other malformations of cortical development: 1995 update.
Academic Article Megalencephaly and perisylvian polymicrogyria with postaxial polydactyly and hydrocephalus (MPPH): report of a new case.
Academic Article Characterization of brain malformations in the Baraitser-Winter syndrome and review of the literature.
Academic Article CHMP1A encodes an essential regulator of BMI1-INK4A in cerebellar development.
Academic Article Macrocephaly-cutis marmorata telangiectatica congenita: a distinct disorder with developmental delay and connective tissue abnormalities.
Academic Article AHI1 gene mutations cause specific forms of Joubert syndrome-related disorders.
Academic Article A developmental and genetic classification for midbrain-hindbrain malformations.
Academic Article Mutations in CENPE define a novel kinetochore-centromeric mechanism for microcephalic primordial dwarfism.
Academic Article G protein-coupled receptor-dependent development of human frontal cortex.
Academic Article Polymicrogyria includes fusion of the molecular layer and decreased neuronal populations but normal cortical laminar organization.
Academic Article Copy number and sequence variants implicate APBA2 as an autism candidate gene.
Academic Article No major role for the EMX2 gene in schizencephaly.
Academic Article Consistent chromosome abnormalities identify novel polymicrogyria loci in 1p36.3, 2p16.1-p23.1, 4q21.21-q22.1, 6q26-q27, and 21q2.
Academic Article Abnormal development of the human cerebral cortex: genetics, functional consequences and treatment options.
Academic Article Previously apparently undescribed syndrome: shallow orbits, ptosis, coloboma, trigonocephaly, gyral malformations, and mental and growth retardation.
Academic Article Classification system for malformations of cortical development: update 2001.
Academic Article Cerebellar and posterior fossa malformations in patients with autism-associated chromosome 22q13 terminal deletion.
Academic Article Molar tooth sign of the midbrain-hindbrain junction: occurrence in multiple distinct syndromes.
Academic Article Microcephaly, jejunal atresia, aberrant right bronchus, ocular anomalies, and XY sex reversal.
Academic Article The Developmental Brain Disorders Database (DBDB): a curated neurogenetics knowledge base with clinical and research applications.
Academic Article De novo CCND2 mutations leading to stabilization of cyclin D2 cause megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome.
Academic Article Malformations of cortical development and epilepsy.
Academic Article Microlissencephaly: a heterogeneous malformation of cortical development.
Academic Article Overlapping cortical malformations and mutations in TUBB2B and TUBA1A.
Academic Article Malformations of cortical development: clinical features and genetic causes.
Academic Article De novo mutations in SIK1 cause a spectrum of developmental epilepsies.
Academic Article RTTN mutations link primary cilia function to organization of the human cerebral cortex.
Academic Article X-linked malformations of cortical development.
Academic Article MEF2C Haploinsufficiency features consistent hyperkinesis, variable epilepsy, and has a role in dorsal and ventral neuronal developmental pathways.
Academic Article A developmental and genetic classification for malformations of cortical development: update 2012.
Academic Article Clinical and imaging heterogeneity of polymicrogyria: a study of 328 patients.
Academic Article PI3K/AKT pathway mutations cause a spectrum of brain malformations from megalencephaly to focal cortical dysplasia.
Academic Article Malformations of cortical development and epilepsy.
Academic Article Progress in autism and related disorders of brain development.
Academic Article Characterisation of mutations of the phosphoinositide-3-kinase regulatory subunit, PIK3R2, in perisylvian polymicrogyria: a next-generation sequencing study.
Academic Article Two Hundred Thirty-Six Children With Developmental Hydrocephalus: Causes and Clinical Consequences.
Academic Article Variable brain phenotype primarily affects the brainstem and cerebellum in patients with osteogenesis imperfecta caused by recessive WNT1 mutations.
Academic Article Association of MTOR Mutations With Developmental Brain Disorders, Including Megalencephaly, Focal Cortical Dysplasia, and Pigmentary Mosaicism.
Academic Article Recurrent de novo BICD2 mutation associated with arthrogryposis multiplex congenita and bilateral perisylvian polymicrogyria.
Academic Article Consensus Paper: Cerebellar Development.
Academic Article Phenotype Differentiation of FOXG1 and MECP2 Disorders: A New Method for Characterization of Developmental Encephalopathies.
Academic Article Comparison of brain MRI findings with language and motor function in the dystroglycanopathies.
Academic Article PIK3CA-associated developmental disorders exhibit distinct classes of mutations with variable expression and tissue distribution.
Academic Article Human mutations in integrator complex subunits link transcriptome integrity to brain development.
Academic Article Correction: Human mutations in integrator complex subunits link transcriptome integrity to brain development.
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.
Academic Article Mutations of AKT3 are associated with a wide spectrum of developmental disorders including extreme megalencephaly.
Academic Article PARD3 dysfunction in conjunction with dynamic HIPPO signaling drives cortical enlargement with massive heterotopia.
Academic Article Heterogeneous clinical phenotypes and cerebral malformations reflected by rotatin cellular dynamics.
Academic Article Costello syndrome: Clinical phenotype, genotype, and management guidelines.
Academic Article De Novo Variants in WDR37 Are Associated with Epilepsy, Colobomas, Dysmorphism, Developmental Delay, Intellectual Disability, and Cerebellar Hypoplasia.
Academic Article De Novo Missense Variants in FBXW11 Cause Diverse Developmental Phenotypes Including Brain, Eye, and Digit Anomalies.
Academic Article De Novo Variants in WDR37 Are Associated with Epilepsy, Colobomas, Dysmorphism, Developmental Delay, Intellectual Disability, and Cerebellar Hypoplasia.
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 Duplication 2p16 is associated with perisylvian polymicrogyria.
Academic Article MN1 C-terminal truncation syndrome is a novel neurodevelopmental and craniofacial disorder with partial rhombencephalosynapsis.
Academic Article Pathogenic DDX3X Mutations Impair RNA Metabolism and Neurogenesis during Fetal Cortical Development.
Academic Article Autosomal dominant TUBB3-related syndrome: Fetal, radiologic, clinical and morphological features.
Academic Article International consensus recommendations on the diagnostic work-up for malformations of cortical development.
Academic Article Variants in GNAI1 cause a syndrome associated with variable features including developmental delay, seizures, and hypotonia.

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