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Dobyns, William
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Concept NFI Transcription Factors
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Concept Lissencephaly
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Concept Saccharomyces cerevisiae
Concept Protein Phosphatase 1
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Concept Class I Phosphatidylinositol 3-Kinases
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Concept Agenesis of Corpus Callosum
Concept Sex Factors
Concept Adaptor Proteins, Signal Transducing
Concept Periventricular Nodular Heterotopia
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Concept Classical Lissencephalies and Subcortical Band Heterotopias
Concept Comparative Genomic Hybridization
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Concept 46, XX Disorders of Sex Development
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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 Inheritance of most X-linked traits is not dominant or recessive, just X-linked.
Academic Article Recurrent 16p11.2 microdeletions in autism.
Academic Article Novel submicroscopic chromosomal abnormalities detected in autism spectrum disorder.
Academic Article Copy number variants and infantile spasms: evidence for abnormalities in ventral forebrain development and pathways of synaptic function.
Academic Article Association and mutation analyses of 16p11.2 autism candidate genes.
Academic Article The core FOXG1 syndrome phenotype consists of postnatal microcephaly, severe mental retardation, absent language, dyskinesia, and corpus callosum hypogenesis.
Academic Article Mutation analysis of the DCX gene and genotype/phenotype correlation in subcortical band heterotopia.
Academic Article Polyalanine expansion of ARX associated with cryptogenic West syndrome.
Academic Article The location and type of mutation predict malformation severity in isolated lissencephaly caused by abnormalities within the LIS1 gene.
Academic Article Mutations in STAMBP, encoding a deubiquitinating enzyme, cause microcephaly-capillary malformation syndrome.
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 Mutations of CASK cause an X-linked brain malformation phenotype with microcephaly and hypoplasia of the brainstem and cerebellum.
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 Interstitial deletion of (17)(p11.2p11.2): report of six additional patients with a new chromosome deletion syndrome.
Academic Article Band-like intracranial calcification with simplified gyration and polymicrogyria: a distinct "pseudo-TORCH" phenotype.
Academic Article Cortical dysplasias, genetics, and epileptogenesis.
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 AP1S2 is mutated in X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizures (Pettigrew 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 Males with epilepsy, complete subcortical band heterotopia, and somatic mosaicism for DCX.
Academic Article Familial Miller-Dieker syndrome associated with pericentric inversion of chromosome 17.
Academic Article Developmental aspects of lissencephaly and the lissencephaly syndromes.
Academic Article LIS1 and XLIS (DCX) mutations cause most classical lissencephaly, but different patterns of malformation.
Academic Article Familial pericentric and paracentric inversions of chromosome 1.
Academic Article Chiari I malformation, delayed gross motor skills, severe speech delay, and epileptiform discharges in a child with FOXP1 haploinsufficiency.
Academic Article Flores hominid: new species or microcephalic dwarf?
Academic Article PRKDC mutations in a SCID patient with profound neurological 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 Clinical manifestations and evaluation of isolated lissencephaly.
Academic Article Truncation of NHEJ1 in a patient with polymicrogyria.
Academic Article Familial remitting chorea, nystagmus, and cataracts.
Academic Article Mutations in POMT1 are found in a minority of patients with Walker-Warburg syndrome.
Academic Article Mutation of FOXC1 and PITX2 induces cerebral small-vessel disease.
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 Primary microcephaly: new approaches for an old disorder.
Academic Article Computed tomographic appearance of lissencephaly syndromes.
Academic Article Differences in the gyral pattern distinguish chromosome 17-linked and X-linked lissencephaly.
Academic Article Microdeletions of chromosome 17p13 as a cause of isolated lissencephaly.
Academic Article Rapid-onset dystonia-parkinsonism.
Academic Article Subcortical band heterotopia in rare affected males can be caused by missense mutations in DCX (XLIS) or LIS1.
Academic Article Rapid-onset dystonia-parkinsonism: linkage to chromosome 19q13.
Academic Article Deficiency of chromosome 8p21.1----8pter: case report and review of the literature.
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 X-linked lissencephaly with absent corpus callosum and ambiguous genitalia.
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 X-linked hereditary hemihypotrophy hemiparesis hemiathetosis.
Academic Article A classification scheme for malformations of cortical development.
Academic Article Absence makes the search grow longer.
Academic Article Isolation of a Miller-Dieker lissencephaly gene containing G protein beta-subunit-like repeats.
Academic Article Detection of deletions and cryptic translocations in Miller-Dieker syndrome by in situ hybridization.
Academic Article Mutations in KATNB1 cause complex cerebral malformations by disrupting asymmetrically dividing neural progenitors.
Academic Article Somatic and germline mosaic mutations in the doublecortin gene are associated with variable phenotypes.
Academic Article The duplication 17p13.3 phenotype: analysis of 21 families delineates developmental, behavioral and brain abnormalities, and rare variant phenotypes.
Academic Article X-linked lissencephaly with abnormal genitalia as a tangential migration disorder causing intractable epilepsy: proposal for a new term, "interneuronopathy".
Academic Article Evidence for genetic heterogeneity in tuberous sclerosis: one locus on chromosome 9 and at least one locus elsewhere.
Academic Article A developmental classification of malformations of the brainstem.
Academic Article Causal heterogeneity in isolated lissencephaly.
Academic Article Infantile cerebral and cerebellar atrophy is associated with a mutation in the MED17 subunit of the transcription preinitiation mediator complex.
Academic Article Cobblestone lissencephaly with normal eyes and muscle.
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 Periventricular nodular heterotopia with overlying polymicrogyria.
Academic Article Molecular characterisation of four cases of intrachromosomal triplication of chromosome 15q11-q14.
Academic Article Diffuse polymicrogyria associated with an unusual pattern of multiple congenital anomalies including turribrachycephaly and hypogenitalism.
Academic Article Mutation of the gene in a family with optic nerve colobomas, renal anomolies and vesicoureteral reflux.
Academic Article Molecular analysis of the Smith-Magenis syndrome: a possible contiguous-gene syndrome associated with del(17)(p11.2).
Academic Article X-linked malformations of neuronal migration.
Academic Article Lissencephaly and subcortical band heterotopia: molecular basis and diagnosis.
Academic Article 14-3-3epsilon is important for neuronal migration by binding to NUDEL: a molecular explanation for Miller-Dieker syndrome.
Academic Article Mutations in the oligophrenin-1 gene (OPHN1) cause X linked congenital cerebellar hypoplasia.
Academic Article Enzymatic diagnostic test for Muscle-Eye-Brain type congenital muscular dystrophy using commercially available reagents.
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 Fluorescence in situ hybridization analysis with LIS1 specific probes reveals a high deletion mutation rate in isolated lissencephaly sequence.
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 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 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 Mosaic mutations of the LIS1 gene cause subcortical band heterotopia.
Academic Article Clinical and genetic distinction between Walker-Warburg syndrome and muscle-eye-brain disease.
Academic Article Expansion of the TARP syndrome phenotype associated with de novo mutations and mosaicism.
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 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 CHMP1A encodes an essential regulator of BMI1-INK4A in cerebellar development.
Academic Article Peritrigonal and temporo-occipital heterotopia with corpus callosum and cerebellar dysgenesis.
Academic Article New chromosomal syndrome: Miller-Dieker syndrome and monosomy 17p13.
Academic Article Macrocephaly-cutis marmorata telangiectatica congenita: a distinct disorder with developmental delay and connective tissue abnormalities.
Academic Article Cerebellar ataxia with progressive improvement.
Academic Article Identification of a duplication of Xq28 associated with bilateral periventricular nodular heterotopia.
Academic Article A developmental and genetic classification for midbrain-hindbrain malformations.
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 The neurogenetics of lissencephaly.
Academic Article De novo mutations in the beta-tubulin gene TUBB2A cause simplified gyral patterning and infantile-onset epilepsy.
Academic Article Doublecortin, a brain-specific gene mutated in human X-linked lissencephaly and double cortex syndrome, encodes a putative signaling protein.
Academic Article Microcephaly, sensorineural deafness and Currarino triad with duplication-deletion of distal 7q.
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 Copy number variation analysis in 98 individuals with PHACE syndrome.
Academic Article The pattern of inheritance of X-linked traits is not dominant or recessive, just X-linked.
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 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 A novel mechanistic spectrum underlies glaucoma-associated chromosome 6p25 copy number variation.
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 Refined linkage to the RDP/DYT12 locus on 19q13.2 and evaluation of GRIK5 as a candidate gene.
Academic Article Bilateral periventricular nodular heterotopia with mental retardation and syndactyly in boys: a new X-linked mental retardation syndrome.
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 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 Mutations in the X-linked filamin 1 gene cause periventricular nodular heterotopia in males as well as in females.
Academic Article The clinical patterns and molecular genetics of lissencephaly and subcortical band heterotopia.
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 A locus for bilateral perisylvian polymicrogyria maps to Xq28.
Academic Article Heterozygous deletion of the linked genes ZIC1 and ZIC4 is involved in Dandy-Walker malformation.
Academic Article Malformations of cortical development and epilepsy.
Academic Article Lissencephaly. A human brain malformation associated with deletion of the LIS1 gene located at chromosome 17p13.
Academic Article Germline and mosaic mutations of FLN1 in men with periventricular heterotopia.
Academic Article Epilepsy and outcome in FOXG1-related disorders.
Academic Article Infantile hydrocephalus: a review of epidemiology, classification and causes.
Academic Article Human doublecortin (DCX) and the homologous gene in mouse encode a putative Ca2+-dependent signaling protein which is mutated in human X-linked neuronal migration defects.
Academic Article MICRO syndrome: an entity distinct from COFS syndrome.
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 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 Rapid diagnosis of Miller-Dieker syndrome and isolated lissencephaly sequence by the polymerase chain reaction.
Academic Article X-linked malformations of cortical development.
Academic Article Albright hereditary osteodystrophy and del(2) (q37.3) in four unrelated individuals.
Academic Article Mutation of the PAX2 gene in a family with optic nerve colobomas, renal anomalies and vesicoureteral reflux.
Academic Article Reciprocal fusion transcripts of two novel Zn-finger genes in a female with absence of the corpus callosum, ocular colobomas and a balanced translocation between chromosomes 2p24 and 9q32.
Academic Article Childhood stroke and lupus anticoagulant.
Academic Article A developmental and genetic classification for malformations of cortical development: update 2012.
Academic Article Vascular abnormalities in epidermal nevus syndrome.
Academic Article Genetic and functional analyses identify DISC1 as a novel callosal agenesis candidate gene.
Academic Article Semiquantitative analysis of hypothalamic damage on MRI predicts risk for hypothalamic obesity.
Academic Article Characterisation of mutations of the phosphoinositide-3-kinase regulatory subunit, PIK3R2, in perisylvian polymicrogyria: a next-generation sequencing study.
Academic Article Familial recurrences of FOXG1-related disorder: Evidence for mosaicism.
Academic Article A Recurrent Mosaic Mutation in SMO, Encoding the Hedgehog Signal Transducer Smoothened, Is the Major Cause of Curry-Jones Syndrome.
Academic Article Consensus Paper: Cerebellar Development.
Academic Article Description of a new oncogenic mechanism for atypical teratoid rhabdoid tumors in patients with ring chromosome 22.
Academic Article Fetal brain lesions after subcutaneous inoculation of Zika virus in a pregnant nonhuman primate.
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 Distinctive Phenotypic Abnormalities Associated with Submicroscopic 21q22 Deletion Including DYRK1A.
Academic Article MACF1 Mutations Encoding Highly Conserved Zinc-Binding Residues of the GAR Domain Cause Defects in Neuronal Migration and Axon Guidance.
Academic Article Walker-Warburg syndrome and tectocerebellar dysraphia: A novel association caused by a homozygous DAG1 mutation.
Academic Article Homozygous TAF8 mutation in a patient with intellectual disability results in undetectable TAF8 protein, but preserved RNA polymerase II transcription.
Academic Article De novo mutations in GRIN1 cause extensive bilateral polymicrogyria.
Academic Article Mutations in MAST1 Cause Mega-Corpus-Callosum Syndrome with Cerebellar Hypoplasia and Cortical Malformations.
Academic Article Primary brain calcification: an international study reporting novel variants and associated phenotypes.
Academic Article PARD3 dysfunction in conjunction with dynamic HIPPO signaling drives cortical enlargement with massive heterotopia.
Academic Article An update on oculocerebrocutaneous (Delleman-Oorthuys) syndrome.
Academic Article Rhombencephalosynapsis: Fused cerebellum, confused geneticists.
Academic Article Biallelic loss of function variants in ATP1A2 cause hydrops fetalis, microcephaly, arthrogryposis and extensive cortical malformations.
Academic Article De Novo Missense Variants in FBXW11 Cause Diverse Developmental Phenotypes Including Brain, Eye, and Digit Anomalies.
Academic Article Megalencephaly syndromes associated with mutations of core components of the PI3K-AKT-MTOR pathway: PIK3CA, PIK3R2, AKT3, and MTOR.
Academic Article Redefining the Etiologic Landscape of Cerebellar Malformations.
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 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 Duplication 2p16 is associated with perisylvian polymicrogyria.
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 Autosomal dominant TUBB3-related syndrome: Fetal, radiologic, clinical and morphological features.
Academic Article Cell-free DNA as a diagnostic analyte for molecular diagnosis of vascular malformations.
Academic Article Recurrent constellations of embryonic malformations re-conceptualized as an overlapping group of disorders with shared pathogenesis.
Academic Article International consensus recommendations on the diagnostic work-up for malformations of cortical development.
Academic Article The Names of Things: The 2018 Bernard Sachs Lecture.
Academic Article Expanding the KIF4A-associated phenotype.
Academic Article A de novo GRIN1 Variant Associated With Myoclonus and Developmental Delay: From Molecular Mechanism to Rescue Pharmacology.
Academic Article Human KCNQ5 de novo mutations underlie epilepsy and intellectual disability.
Academic Article TMEM161B modulates radial glial scaffolding in neocortical development.
Concept Autism Spectrum Disorder
Concept Imatinib Mesylate
Concept Drug Resistant Epilepsy
Concept Enhancer of Zeste Homolog 2 Protein
Concept Axon Guidance
Concept WD40 Repeats
Concept SMARCB1 Protein
Concept Regulatory Factor X Transcription Factors
Concept PAX6 Transcription Factor
Concept Smoothened Receptor
Concept Protein Domains
Concept Katanin
Concept Interferon-Induced Helicase, IFIH1
Concept Disks Large Homolog 4 Protein
Concept Mechanistic Target of Rapamycin Complex 1
Concept Pediatric Obesity
Concept Gene Ontology
Concept Polycomb Repressive Complex 2
Concept Exosome Multienzyme Ribonuclease Complex
Concept Ependymoglial Cells
Concept Ataxia Telangiectasia Mutated Proteins
Concept Receptor, Metabotropic Glutamate 5
Concept MEF2 Transcription Factors
Concept Hemimegalencephaly
Concept Neurodevelopmental Disorders
Concept Polymicrogyria
Grant LISSENCEPHALY--MOLECULAR BASIS OF NEURONAL MIGRATION
Grant The genetic basis of Dandy-Walker and other mid-hindbrain malformations
Academic Article Pathogenic variants in SMARCA1 cause an X-linked neurodevelopmental disorder modulated by NURF complex composition.
Academic Article Dandy-Walker Phenotype with Brainstem Involvement: 2 Distinct Subgroups with Different Prognosis.
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