The University of Chicago Header Logo

Search Result Details

Back to Search Results
This page shows the details of why an item matched the keywords from your search.
Search Results
Dobyns, William
One or more keywords matched the following items that are connected to Dobyns, William
Item TypeName
Concept Amniotic Band Syndrome
Concept Dandy-Walker Syndrome
Concept Ehlers-Danlos Syndrome
Concept Cockayne Syndrome
Concept Fragile X Syndrome
Concept Klippel-Trenaunay-Weber Syndrome
Concept Pierre Robin Syndrome
Concept Wolff-Parkinson-White Syndrome
Concept Reye Syndrome
Concept Syndrome
Concept Rett Syndrome
Concept Antiphospholipid Syndrome
Concept Stiff-Person Syndrome
Concept Noonan Syndrome
Concept Sotos Syndrome
Concept Neurocutaneous Syndromes
Concept Costello Syndrome
Concept Aicardi Syndrome
Concept Acrocallosal Syndrome
Concept Williams Syndrome
Concept Walker-Warburg Syndrome
Concept Orofaciodigital Syndromes
Concept Loose Anagen Hair Syndrome
Academic Article Genetic and neuroradiological heterogeneity of double cortex syndrome.
Academic Article Clinical and molecular basis of classical lissencephaly: Mutations in the LIS1 gene (PAFAH1B1).
Academic Article Hereditary hyperekplexia caused by novel mutations of GLRA1 in Turkish families.
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 Mutations in STAMBP, encoding a deubiquitinating enzyme, cause microcephaly-capillary malformation syndrome.
Academic Article Baraitser-Winter cerebrofrontofacial syndrome: delineation of the spectrum in 42 cases.
Academic Article New recessive syndrome of microcephaly, cerebellar hypoplasia, and congenital heart conduction defect.
Academic Article Epilepsy and malformations of the cerebral cortex.
Academic Article Further comments on the lissencephaly syndromes.
Academic Article Mutations of CASK cause an X-linked brain malformation phenotype with microcephaly and hypoplasia of the brainstem and cerebellum.
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 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 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 Unbalanced der(5)t(5;20) translocation associated with megalencephaly, perisylvian polymicrogyria, polydactyly and hydrocephalus.
Academic Article Unsuccessful physostigmine therapy in Reye syndrome.
Academic Article Interstitial deletion of (17)(p11.2p11.2): report of six additional patients with a new chromosome deletion syndrome.
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 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 Classical lissencephaly syndromes: does the face reflect the brain?
Academic Article X Chromosome-Inactivation Patterns in 31 Individuals with PHACE Syndrome.
Academic Article Polymicrogyria and deletion 22q11.2 syndrome: window to the etiology of a common cortical malformation.
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 Interneuron deficits in patients with the Miller-Dieker syndrome.
Academic Article Developmental aspects of lissencephaly and the lissencephaly syndromes.
Academic Article Rhombencephalosynapsis: a hindbrain malformation associated with incomplete separation of midbrain and forebrain, hydrocephalus and a broad spectrum of severity.
Academic Article Mutations in LAMB1 cause cobblestone brain malformation without muscular or ocular abnormalities.
Academic Article Cerebello-oculo-renal syndromes including Arima, Senior-Löken and COACH syndromes: more than just variants of Joubert syndrome.
Academic Article Megalencephaly syndromes and activating mutations in the PI3K-AKT pathway: MPPH and MCAP.
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 De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndrome.
Academic Article Clinical spectrum of Wilson's disease (hepatolenticular degeneration).
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 Characterization of mutations in the gene doublecortin in patients with double cortex syndrome.
Academic Article Familial remitting chorea, nystagmus, and cataracts.
Academic Article Megalencephaly and perisylvian polymicrogyria with postaxial polydactyly and hydrocephalus: a rare brain malformation syndrome associated with mental retardation and seizures.
Academic Article Mutations in POMT1 are found in a minority of patients with Walker-Warburg 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 Mutations in extracellular matrix genes NID1 and LAMC1 cause autosomal dominant Dandy-Walker malformation and occipital cephaloceles.
Academic Article Computed tomographic appearance of lissencephaly syndromes.
Academic Article PIK3CA-related overgrowth spectrum (PROS): diagnostic and testing eligibility criteria, differential diagnosis, and evaluation.
Academic Article Rapid-onset dystonia-parkinsonism.
Academic Article Identification of genomic loci contributing to agenesis of the corpus callosum.
Academic Article Homonucleotide expansion and contraction mutations of PAX2 and inclusion of Chiari 1 malformation as part of renal-coloboma syndrome.
Academic Article Deficiency of chromosome 8p21.1----8pter: case report and review of the literature.
Academic Article Mutations of the catalytic subunit of RAB3GAP cause Warburg Micro syndrome.
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 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 Absence makes the search grow longer.
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 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 The "megalencephaly-capillary malformation" (MCAP) syndrome: the nomenclature of a highly recognizable multiple congenital anomaly syndrome.
Academic Article Significant overlap and possible identity of macrocephaly capillary malformation and megalencephaly polymicrogyria-polydactyly hydrocephalus syndromes.
Academic Article Congenital muscular dystrophies: clinical review and proposed classification.
Academic Article Autosomal dominant optic nerve colobomas, vesicoureteral reflux, and renal anomalies.
Academic Article Cobblestone lissencephaly with normal eyes and muscle.
Academic Article Cellular and clinical impact of haploinsufficiency for genes involved in ATR signaling.
Academic Article Periventricular nodular heterotopia with overlying polymicrogyria.
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 Rapid-onset dystonia-parkinsonism in a second family.
Academic Article Expanding CEP290 mutational spectrum in ciliopathies.
Academic Article De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes.
Academic Article 14-3-3epsilon is important for neuronal migration by binding to NUDEL: a molecular explanation for Miller-Dieker syndrome.
Academic Article AHI1 mutations cause both retinal dystrophy and renal cystic disease in Joubert syndrome.
Academic Article Distinguishing 3 classes of corpus callosal abnormalities in consanguineous families.
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 Autosomal dominant torsion dystonia with onset in infancy.
Academic Article FOXC1 is required for normal cerebellar development and is a major contributor to chromosome 6p25.3 Dandy-Walker malformation.
Academic Article Miller-Dieker syndrome: lissencephaly and monosomy 17p.
Academic Article A revision of the lissencephaly and Miller-Dieker syndrome critical regions in chromosome 17p13.3.
Academic Article Point mutations and an intragenic deletion in LIS1, the lissencephaly causative gene in isolated lissencephaly sequence and Miller-Dieker syndrome.
Academic Article Clinical and genetic distinction between Walker-Warburg syndrome and muscle-eye-brain disease.
Academic Article Brain anomalies in encephalocraniocutaneous lipomatosis.
Academic Article Polymicrogyria and motor neuropathy in Micro syndrome.
Academic Article Expansion of the TARP syndrome phenotype associated with de novo mutations and mosaicism.
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 Lissencephaly and other malformations of cortical development: 1995 update.
Academic Article Toriello-Carey syndrome: delineation and review.
Academic Article Characterization of brain malformations in the Baraitser-Winter syndrome and review of the literature.
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 Macrocephaly-cutis marmorata telangiectatica congenita: a distinct disorder with developmental delay and connective tissue abnormalities.
Academic Article COL4A1 mutations cause ocular dysgenesis, neuronal localization defects, and myopathy in mice and Walker-Warburg syndrome in humans.
Academic Article AHI1 gene mutations cause specific forms of Joubert syndrome-related disorders.
Academic Article Identification of a duplication of Xq28 associated with bilateral periventricular nodular heterotopia.
Academic Article The neurogenetics of lissencephaly.
Academic Article Doublecortin, a brain-specific gene mutated in human X-linked lissencephaly and double cortex syndrome, encodes a putative signaling protein.
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 Four new patients with Gomez-Lopez-Hernandez syndrome and proposed diagnostic criteria.
Academic Article Human malformations of the midbrain and hindbrain: review and proposed classification scheme.
Academic Article Copy number variation analysis in 98 individuals with PHACE syndrome.
Academic Article The molar tooth sign: a new Joubert syndrome and related cerebellar disorders classification system tested in Egyptian families.
Academic Article New syndrome: focal dermal hypoplasia, morning glory anomaly, and polymicrogyria.
Academic Article Previously apparently undescribed syndrome: shallow orbits, ptosis, coloboma, trigonocephaly, gyral malformations, and mental and growth retardation.
Academic Article Long-term survival in TARP syndrome and confirmation of RBM10 as the disease-causing gene.
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 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 Bilateral periventricular nodular heterotopia with mental retardation and syndactyly in boys: a new X-linked mental retardation syndrome.
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 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 De novo CCND2 mutations leading to stabilization of cyclin D2 cause megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome.
Academic Article Heterozygous deletion of the linked genes ZIC1 and ZIC4 is involved in Dandy-Walker malformation.
Academic Article Mutations in the cilia gene ARL13B lead to the classical form of Joubert syndrome.
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 Lissencephaly and the molecular basis of neuronal migration.
Academic Article Bilateral frontoparietal polymicrogyria: clinical and radiological features in 10 families with linkage to chromosome 16.
Academic Article Olivopontocerebellar atrophy leading to recognition of carbohydrate-deficient glycoprotein syndrome type I.
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 Neuroimaging findings in macrocephaly-capillary malformation: a longitudinal study of 17 patients.
Academic Article Rapid diagnosis of Miller-Dieker syndrome and isolated lissencephaly sequence by the polymerase chain reaction.
Academic Article Loss-of-function mutations in RAB18 cause Warburg micro syndrome.
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 Bilateral periventricular nodular heterotopia with mental retardation and frontonasal malformation.
Academic Article Cobblestone-like brain dysgenesis and altered glycosylation in congenital cutis laxa, Debre type.
Academic Article Childhood stroke and lupus anticoagulant.
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 Expanding the SHOC2 mutation associated phenotype of Noonan syndrome with loose anagen hair: structural brain anomalies and myelofibrosis.
Academic Article Vascular abnormalities in epidermal nevus syndrome.
Academic Article Phenotypic analysis of individuals with Costello syndrome due to HRAS p.G13C.
Academic Article Genetic and functional analyses identify DISC1 as a novel callosal agenesis candidate gene.
Academic Article Functional genome-wide siRNA screen identifies KIAA0586 as mutated in Joubert syndrome.
Academic Article Familial recurrences of FOXG1-related disorder: Evidence for mosaicism.
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 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 A Recurrent Mosaic Mutation in SMO, Encoding the Hedgehog Signal Transducer Smoothened, Is the Major Cause of Curry-Jones Syndrome.
Academic Article A novel rasopathy caused by recurrent de novo missense mutations in PPP1CB closely resembles Noonan syndrome with loose anagen hair.
Academic Article Update on the ACTG1-associated Baraitser-Winter cerebrofrontofacial syndrome.
Academic Article Neuroimaging findings in Mowat-Wilson syndrome: a study of 54 patients.
Academic Article Phenotypic outcomes in Mouse and Human Foxc1 dependent Dandy-Walker cerebellar malformation suggest shared mechanisms.
Academic Article Characterizing the Pattern of Anomalies in Congenital Zika Syndrome for Pediatric Clinicians.
Academic Article Human mutations in integrator complex subunits link transcriptome integrity to brain development.
Academic Article Mutations in ARMC9, which Encodes a Basal Body Protein, Cause Joubert Syndrome in Humans and Ciliopathy Phenotypes in Zebrafish.
Academic Article Walker-Warburg syndrome and tectocerebellar dysraphia: A novel association caused by a homozygous DAG1 mutation.
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 Structural malformations of the brain, eye, and pituitary gland in PHACE syndrome.
Academic Article Tubulinopathies continued: refining the phenotypic spectrum associated with variants in TUBG1.
Academic Article An update on oculocerebrocutaneous (Delleman-Oorthuys) syndrome.
Academic Article Costello syndrome: Clinical phenotype, genotype, and management guidelines.
Academic Article Megalencephaly syndromes associated with mutations of core components of the PI3K-AKT-MTOR pathway: PIK3CA, PIK3R2, AKT3, and MTOR.
Academic Article Postzygotic inactivating mutations of RHOA cause a mosaic neuroectodermal syndrome.
Academic Article Author Correction: Postzygotic inactivating mutations of RHOA cause a mosaic neuroectodermal syndrome.
Academic Article Spatiotemporal expansion of primary progenitor zones in the developing human cerebellum.
Academic Article SETD2 related overgrowth syndrome: Presentation of four new patients and review of the literature.
Academic Article Approach to overgrowth syndromes in the genome era.
Academic Article MN1 C-terminal truncation syndrome is a novel neurodevelopmental and craniofacial disorder with partial rhombencephalosynapsis.
Academic Article De novo TBR1 variants cause a neurocognitive phenotype with ID and autistic traits: report of 25 new individuals and review of the literature.
Academic Article Author Correction: Postzygotic inactivating mutations of RHOA cause a mosaic neuroectodermal syndrome.
Academic Article Autosomal dominant TUBB3-related syndrome: Fetal, radiologic, clinical and morphological features.
Academic Article Bilateral polymicrogyria associated with dystonia: A new neurogenetic syndrome?
Academic Article Variants in GNAI1 cause a syndrome associated with variable features including developmental delay, seizures, and hypotonia.
Academic Article Refining the Neuroimaging Definition of the Dandy-Walker Phenotype.
Grant ACC: Callosal Agenesis as a Window into Common Neurodevelopmental Disorders
Grant Megalencephaly and segmental brain overgrowth in humans
Academic Article Dandy-Walker Phenotype with Brainstem Involvement: 2 Distinct Subgroups with Different Prognosis.
Academic Article Undifferentiated psychosis or schizophrenia associated with vermis-predominant cerebellar hypoplasia.
Search Criteria
  • Syndrome