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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 Infant, Newborn
Concept Infant, Premature
Concept Infant
Academic Article Periventricular nodular heterotopia in patients with filamin-1 gene mutations: neuroimaging findings.
Academic Article Subcortical band heterotopia (SBH) in males: clinical, imaging and genetic findings in comparison with females.
Academic Article Nonsyndromic mental retardation and cryptogenic epilepsy in women with doublecortin gene mutations.
Academic Article "Molecular rulers" for calibrating phenotypic effects of telomere imbalance.
Academic Article Mutations of ARX are associated with striking pleiotropy and consistent genotype-phenotype correlation.
Academic Article Copy number variants and infantile spasms: evidence for abnormalities in ventral forebrain development and pathways of synaptic function.
Academic Article Phenotypic spectrum associated with CASK loss-of-function mutations.
Academic Article Polyalanine expansion of ARX associated with cryptogenic West syndrome.
Academic Article Mutations in STAMBP, encoding a deubiquitinating enzyme, cause microcephaly-capillary malformation syndrome.
Academic Article CDKL5 and ARX mutations in males with early-onset epilepsy.
Academic Article Mutations in B3GALNT2 cause congenital muscular dystrophy and hypoglycosylation of a-dystroglycan.
Academic Article New recessive syndrome of microcephaly, cerebellar hypoplasia, and congenital heart conduction defect.
Academic Article Further comments on the lissencephaly syndromes.
Academic Article Expanding the differential diagnosis of fetal hydrops: an unusual prenatal presentation of megalencephaly-capillary malformation syndrome.
Academic Article Clinical and molecular diagnosis of Miller-Dieker syndrome.
Academic Article 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.
Academic Article POMGnT1 mutation and phenotypic spectrum in muscle-eye-brain disease.
Academic Article Band-like intracranial calcification with simplified gyration and polymicrogyria: a distinct "pseudo-TORCH" phenotype.
Academic Article Benign hereditary chorea.
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 Mutations in the O-mannosyltransferase gene POMT1 give rise to the severe neuronal migration disorder Walker-Warburg syndrome.
Academic Article Classical lissencephaly syndromes: does the face reflect the brain?
Academic Article Oculocerebrocutaneous syndrome: the brain malformation defines a core phenotype.
Academic Article Familial Miller-Dieker syndrome associated with pericentric inversion of chromosome 17.
Academic Article Rhombencephalosynapsis: a hindbrain malformation associated with incomplete separation of midbrain and forebrain, hydrocephalus and a broad spectrum of severity.
Academic Article Chiari I malformation, delayed gross motor skills, severe speech delay, and epileptiform discharges in a child with FOXP1 haploinsufficiency.
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 Agenesis of the corpus callosum and congenital lymphedema: A novel recognizable syndrome?
Academic Article Neonatal adrenoleukodystrophy: new cases, biochemical studies, and differentiation from Zellweger and related peroxisomal polydystrophy syndromes.
Academic Article Clinical manifestations and evaluation of isolated lissencephaly.
Academic Article Megalencephaly and perisylvian polymicrogyria with postaxial polydactyly and hydrocephalus: a rare brain malformation syndrome associated with mental retardation and seizures.
Academic Article Ultra-high-field MR imaging in polymicrogyria and epilepsy.
Academic Article Genetic and biologic classification of infantile spasms.
Academic Article Molecular and neuroimaging findings in pontocerebellar hypoplasia type 2 (PCH2): is prenatal diagnosis possible?
Academic Article Pontocerebellar hypoplasia type 6: A British case with PEHO-like features.
Academic Article Deficiency of chromosome 8p21.1----8pter: case report and review of the literature.
Academic Article ISPD loss-of-function mutations disrupt dystroglycan O-mannosylation and cause Walker-Warburg syndrome.
Academic Article X-linked lissencephaly with absent corpus callosum and ambiguous genitalia.
Academic Article Targeted loss of Arx results in a developmental epilepsy mouse model and recapitulates the human phenotype in heterozygous females.
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 A classification scheme for malformations of cortical development.
Academic Article Autosomal recessive mutations in nuclear transport factor KPNA7 are associated with infantile spasms and cerebellar malformation.
Academic Article Clinical, neuroradiological and genetic findings in pontocerebellar hypoplasia.
Academic Article The duplication 17p13.3 phenotype: analysis of 21 families delineates developmental, behavioral and brain abnormalities, and rare variant phenotypes.
Academic Article Persistent figure-eight and side-to-side head shaking is a marker for rhombencephalosynapsis.
Academic Article X-linked lissencephaly with abnormal genitalia as a tangential migration disorder causing intractable epilepsy: proposal for a new term, "interneuronopathy".
Academic Article Bilateral frontal polymicrogyria: a newly recognized brain malformation syndrome.
Academic Article Epidermal nevus syndrome: a neurologic variant with hemimegalencephaly, gyral malformation, mental retardation, seizures, and facial hemihypertrophy.
Academic Article Familial lissencephaly with cleft palate and severe cerebellar hypoplasia.
Academic Article Causal heterogeneity in isolated lissencephaly.
Academic Article Significant overlap and possible identity of macrocephaly capillary malformation and megalencephaly polymicrogyria-polydactyly hydrocephalus syndromes.
Academic Article Infantile cerebral and cerebellar atrophy is associated with a mutation in the MED17 subunit of the transcription preinitiation mediator complex.
Academic Article Congenital muscular dystrophies: clinical review and proposed classification.
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 Periventricular nodular heterotopia with overlying polymicrogyria.
Academic Article Molecular characterisation of four cases of intrachromosomal triplication of chromosome 15q11-q14.
Academic Article Lymphatic and other vascular malformative/overgrowth disorders are caused by somatic mutations in PIK3CA.
Academic Article Diffuse polymicrogyria associated with an unusual pattern of multiple congenital anomalies including turribrachycephaly and hypogenitalism.
Academic Article Molecular analysis of the Smith-Magenis syndrome: a possible contiguous-gene syndrome associated with del(17)(p11.2).
Academic Article Plasmapheresis with acute inflammatory polyneuropathy.
Academic Article Novel mutations in ATP1A3 associated with catastrophic early life epilepsy, episodic prolonged apnea, and postnatal microcephaly.
Academic Article X-linked malformations of neuronal migration.
Academic Article Diffuse polymicrogyria associated with congenital hydrocephalus, craniosynostosis, severe mental retardation, and minor facial and genital anomalies.
Academic Article Periventricular heterotopia in 6q terminal deletion syndrome: role of the C6orf70 gene.
Academic Article Syndromes with lissencephaly. I: Miller-Dieker and Norman-Roberts syndromes and isolated lissencephaly.
Academic Article Beyond Gómez-López-Hernández syndrome: recurring phenotypic themes in rhombencephalosynapsis.
Academic Article Mutations in 3 genes (MKS3, CC2D2A and RPGRIP1L) cause COACH syndrome (Joubert syndrome with congenital hepatic fibrosis).
Academic Article Genotypically defined lissencephalies show distinct pathologies.
Academic Article Neuropathology of brain and spinal malformations in a case of monosomy 1p36.
Academic Article Congenital pontocerebellar atrophy in three patients: clinical, radiologic and etiologic considerations.
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 Miller-Dieker syndrome: lissencephaly and monosomy 17p.
Academic Article Clinical and genetic distinction between Walker-Warburg syndrome and muscle-eye-brain disease.
Academic Article Brain anomalies in encephalocraniocutaneous lipomatosis.
Academic Article Expansion of the TARP syndrome phenotype associated with de novo mutations and mosaicism.
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 Toriello-Carey syndrome: delineation and review.
Academic Article Peritrigonal and temporo-occipital heterotopia with corpus callosum and cerebellar dysgenesis.
Academic Article LIS1 missense mutations cause milder lissencephaly phenotypes including a child with normal IQ.
Academic Article New chromosomal syndrome: Miller-Dieker syndrome and monosomy 17p13.
Academic Article Agenesis of the corpus callosum and Dandy-Walker malformation associated with hemimegalencephaly in the sebaceous nevus syndrome.
Academic Article Carriers and patients with muscle-eye-brain disease can be rapidly diagnosed by enzymatic analysis of fibroblasts and lymphoblasts.
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 De novo mutations in the beta-tubulin gene TUBB2A cause simplified gyral patterning and infantile-onset epilepsy.
Academic Article A homozygous nonsense mutation in the fukutin gene causes a Walker-Warburg syndrome phenotype.
Academic Article Polymicrogyria includes fusion of the molecular layer and decreased neuronal populations but normal cortical laminar organization.
Academic Article Copy number variation analysis in 98 individuals with PHACE syndrome.
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 Previously apparently undescribed syndrome: shallow orbits, ptosis, coloboma, trigonocephaly, gyral malformations, and mental and growth retardation.
Academic Article The microcephaly-capillary malformation syndrome.
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 Acute inflammatory demyelinating polyradiculoneuropathy (Guillain-Barré syndrome) after immunization with Haemophilus influenzae type b conjugate vaccine.
Academic Article Septo-optic dysplasia and amniotic bands: further evidence for a vascular pathogenesis.
Academic Article Lissencephaly with cerebellar hypoplasia (LCH): a heterogeneous group of cortical malformations.
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 Agenesis of the corpus callosum and gyral malformations are frequent manifestations of nonketotic hyperglycinemia.
Academic Article Germline and mosaic mutations of FLN1 in men with periventricular heterotopia.
Academic Article Epilepsy and outcome in FOXG1-related disorders.
Academic Article Microlissencephaly: a heterogeneous malformation of cortical development.
Academic Article Infantile hydrocephalus: a review of epidemiology, classification and causes.
Academic Article Overlapping cortical malformations and mutations in TUBB2B and TUBA1A.
Academic Article High incidence of progressive postnatal cerebellar enlargement in Costello syndrome: brain overgrowth associated with HRAS mutations as the likely cause of structural brain and spinal cord abnormalities.
Academic Article MICRO syndrome: an entity distinct from COFS syndrome.
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 De novo mutations in SIK1 cause a spectrum of developmental epilepsies.
Academic Article Genotype-phenotype analysis of human frontoparietal polymicrogyria syndromes.
Academic Article Neuroimaging findings in macrocephaly-capillary malformation: a longitudinal study of 17 patients.
Academic Article Isolated lissencephaly: report of four patients from two unrelated families.
Academic Article Diagnostic criteria for Walker-Warburg syndrome.
Academic Article Mutations in the FKRP gene can cause muscle-eye-brain disease and Walker-Warburg syndrome.
Academic Article MEF2C Haploinsufficiency features consistent hyperkinesis, variable epilepsy, and has a role in dorsal and ventral neuronal developmental pathways.
Academic Article Cobblestone-like brain dysgenesis and altered glycosylation in congenital cutis laxa, Debre type.
Academic Article Classification of the cerebro-oculo-muscular syndrome(s). Commentary to Kimura's paper (pp. 182-91)
Academic Article Syndromes with lissencephaly. II: Walker-Warburg and cerebro-oculo-muscular syndromes and a new syndrome with type II lissencephaly.
Academic Article A novel SIX3 mutation segregates with holoprosencephaly in a large family.
Academic Article Phenotypic analysis of individuals with Costello syndrome due to HRAS p.G13C.
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 Characterisation of mutations of the phosphoinositide-3-kinase regulatory subunit, PIK3R2, in perisylvian polymicrogyria: a next-generation sequencing study.
Academic Article Weaver Syndrome-Associated EZH2 Protein Variants Show Impaired Histone Methyltransferase Function In Vitro.
Academic Article Mosaic Activating Mutations in FGFR1 Cause Encephalocraniocutaneous Lipomatosis.
Academic Article A Recurrent Mosaic Mutation in SMO, Encoding the Hedgehog Signal Transducer Smoothened, Is the Major Cause of Curry-Jones Syndrome.
Academic Article Update on the ACTG1-associated Baraitser-Winter cerebrofrontofacial syndrome.
Academic Article Recurrent de novo BICD2 mutation associated with arthrogryposis multiplex congenita and bilateral perisylvian polymicrogyria.
Academic Article Description of a new oncogenic mechanism for atypical teratoid rhabdoid tumors in patients with ring chromosome 22.
Academic Article Anatomical configurations associated with posthemorrhagic hydrocephalus among premature infants with intraventricular hemorrhage.
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 Comparison of brain MRI findings with language and motor function in the dystroglycanopathies.
Academic Article Characterizing the Pattern of Anomalies in Congenital Zika Syndrome for Pediatric Clinicians.
Academic Article PIK3CA-associated developmental disorders exhibit distinct classes of mutations with variable expression and tissue distribution.
Academic Article Lissencephaly: Expanded imaging and clinical classification.
Academic Article Early-Life Epilepsies and the Emerging Role of Genetic Testing.
Academic Article Why West? Comparisons of clinical, genetic and molecular features of infants with and without spasms.
Academic Article De novo mutations in GRIN1 cause extensive bilateral polymicrogyria.
Academic Article Structural malformations of the brain, eye, and pituitary gland in PHACE syndrome.
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 De Novo Variants in WDR37 Are Associated with Epilepsy, Colobomas, Dysmorphism, Developmental Delay, Intellectual Disability, and Cerebellar Hypoplasia.
Academic Article Subcortical heterotopic gray matter brain malformations: Classification study of 107 individuals.
Academic Article SETD2 related overgrowth syndrome: Presentation of four new patients and review of the literature.
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 Variants in CEP85L Cause Sporadic and Familial Posterior Predominant Lissencephaly.
Academic Article Autosomal dominant TUBB3-related syndrome: Fetal, radiologic, clinical and morphological features.
Academic Article Activating variants in PDGFRB result in a spectrum of disorders responsive to imatinib monotherapy.
Academic Article Genotype-phenotype correlation at codon 1740 of SETD2.
Academic Article Recurrent constellations of embryonic malformations re-conceptualized as an overlapping group of disorders with shared pathogenesis.
Academic Article The spectrum of brain malformations and disruptions in twins.
Academic Article ATP1A2- and ATP1A3-associated early profound epileptic encephalopathy and polymicrogyria.
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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