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 Aortic Coarctation
Concept Congenital Abnormalities
Concept Abnormalities, Multiple
Concept Sodium-Potassium-Exchanging ATPase
Concept Adenosine Triphosphate
Concept Adrenoleukodystrophy
Concept Cerebellar Cortex
Concept Chromosome Banding
Concept Chromosomes, Human, Pair 11
Concept Chromosomes, Human, Pair 2
Concept Chromosomes, Human, Pair 6
Concept Anus, Imperforate
Concept Arthrogryposis
Concept Analysis of Variance
Concept Cleft Lip
Concept Arnold-Chiari Malformation
Concept Cell Differentiation
Concept Cerebral Infarction
Concept Attention Deficit Disorder with Hyperactivity
Concept Awards and Prizes
Concept Bacterial Vaccines
Concept Biological Science Disciplines
Concept Bladder Exstrophy
Concept Calcinosis
Concept Brain Stem
Concept Bromodeoxyuridine
Concept Chromosomes, Human, Pair 1
Concept Chromosomes, Human, Pair 15
Concept Chromosomes, Human, Pair 21
Concept Chromosomes, Human, Pair 3
Concept Cerebellum
Concept Chromosomes, Human, Pair 14
Concept Chromosomes, Human, 6-12 and X
Concept Clonazepam
Concept Chromosome Deletion
Concept Chromosomes, Human, Pair 22
Concept Chromosomes, Human, Pair 4
Concept Codon
Concept Coloboma
Concept Chromosomes, Human, Pair 5
Concept Chromosomes, Human, Pair 7
Concept Cleft Palate
Concept Cricetulus
Concept Chromosomes, Human, 16-18
Concept Dandy-Walker Syndrome
Concept Digestive System Abnormalities
Concept Congenital Hypothyroidism
Concept Drosophila
Concept Ehlers-Danlos Syndrome
Concept Gonadal Dysgenesis, 46,XY
Concept Chromosomes, Human, Pair 10
Concept Chromosomes, Human, Pair 17
Concept Chromosomes, Human, Pair 19
Concept Chromosomes, Human, Pair 9
Concept Exons
Concept Family
Concept Cockayne Syndrome
Concept Craniosynostoses
Concept Drosophila melanogaster
Concept Fragile X Syndrome
Concept Introns
Concept Esophageal Atresia
Concept Eye Abnormalities
Concept Musculoskeletal Abnormalities
Concept Genetics
Concept Glycosylation
Concept Focal Dermal Hypoplasia
Concept Dyneins
Concept Ouabain
Concept Dysarthria
Concept Intestinal Atresia
Concept Macaca nemestrina
Concept Mesencephalon
Concept Language Development Disorders
Concept Microcephaly
Concept Mice, Neurologic Mutants
Concept Immunohistochemistry
Concept Monosaccharide Transport Proteins
Concept Mice, Inbred C57BL
Concept Microphthalmos
Concept Molecular Biology
Concept Cricetinae
Concept Rhombencephalon
Concept Disorders of Sex Development
Concept Periaqueductal Gray
Concept Pierre Robin Syndrome
Concept Nuclear Family
Concept Physostigmine
Concept Primates
Concept Hirschsprung Disease
Concept Glutamine
Concept Receptors, Androgen
Concept Heart Defects, Congenital
Concept Rabbits
Concept Pons
Concept Wolff-Parkinson-White Syndrome
Concept Retinoids
Concept Reye Syndrome
Concept Skin Abnormalities
Concept Hepatolenticular Degeneration
Concept Syndactyly
Concept Humans
Concept Holoprosencephaly
Concept Receptors, N-Methyl-D-Aspartate
Concept Tretinoin
Concept Trisomy
Concept Calcium Channels
Concept Isotretinoin
Concept Codon, Terminator
Concept Velopharyngeal Insufficiency
Concept RNA Splice Sites
Concept Urogenital Abnormalities
Concept Sex Chromosome Disorders
Concept Vacuolar Proton-Translocating ATPases
Concept Mandibulofacial Dysostosis
Concept Rats, Wistar
Concept Nervous System Malformations
Concept Medulla Oblongata
Concept Limb Deformities, Congenital
Concept Neurobiology
Concept Blepharophimosis
Concept RNA-Binding Proteins
Concept Mice, Knockout
Concept ras Proteins
Concept Craniofacial Abnormalities
Concept DNA-Activated Protein Kinase
Concept Malformations of Cortical Development
Concept Cystic Fibrosis Transmembrane Conductance Regulator
Concept Noonan Syndrome
Concept rab GTP-Binding Proteins
Concept Polydactyly
Concept Sotos Syndrome
Concept Megalencephaly
Concept Lymphatic Abnormalities
Concept Proteomics
Concept E1A-Associated p300 Protein
Concept Sodium-Phosphate Cotransporter Proteins, Type III
Concept Parents
Concept rab3 GTP-Binding Proteins
Concept CRADD Signaling Adaptor Protein
Concept rhoA GTP-Binding Protein
Concept Central Nervous System Cysts
Concept Neurocutaneous Syndromes
Concept Septo-Optic Dysplasia
Concept Promoter Regions, Genetic
Concept Mice
Concept Purkinje Cells
Concept Lissencephaly
Concept Cobblestone Lissencephaly
Concept beta-Transducin Repeat-Containing Proteins
Concept Rats
Concept Costello Syndrome
Concept Immunoprecipitation
Concept Agenesis of Corpus Callosum
Concept Adaptor Proteins, Signal Transducing
Concept Regulatory Elements, Transcriptional
Concept Periventricular Nodular Heterotopia
Concept Zebrafish
Concept Multivariate Analysis
Concept Open Reading Frames
Concept Aicardi Syndrome
Concept Tuberous Sclerosis
Concept Hominidae
Concept Ribonucleoprotein, U5 Small Nuclear
Concept Argonaute Proteins
Concept Haemophilus Vaccines
Concept Proto-Oncogene Proteins p21(ras)
Concept Antisense Elements (Genetics)
Concept GTP-Binding Proteins
Concept Malformations of Cortical Development, Group II
Concept Ectopia Cordis
Concept Receptors, Glycine
Concept Acrocallosal Syndrome
Concept Williams Syndrome
Concept alpha Karyopherins
Concept GTPase-Activating Proteins
Concept Calreticulin
Concept Chromosome Disorders
Concept Replication Protein C
Concept Vascular Malformations
Concept Adaptor Protein Complex sigma Subunits
Concept RNA, Small Interfering
Concept 14-3-3 Proteins
Concept CREB-Binding Protein
Concept KCNQ Potassium Channels
Concept Classical Lissencephalies and Subcortical Band Heterotopias
Concept Cyclin D2
Concept 46, XX Disorders of Sex Development
Concept Walker-Warburg Syndrome
Concept Molecular Typing
Concept Anemia, Sickle Cell
Concept Calcium-Binding Proteins
Concept Chromosomes, Human, Pair 16
Concept Clubfoot
Concept Cryptorchidism
Concept Encephalocele
Concept Genetic Counseling
Concept Hand Deformities, Congenital
Concept Membrane Potentials
Concept Mice, Mutant Strains
Concept Orofaciodigital Syndromes
Concept Retinal Dysplasia
Concept Ribonucleoproteins, Small Nuclear
Concept Computational Biology
Concept ADP-Ribosylation Factors
Concept Central Nervous System Vascular Malformations
Concept Genomics
Concept Membrane Transport Proteins
Concept Adaptor Proteins, Vesicular Transport
Concept Chromosomes, Human, X
Concept Neurogenesis
Concept Mediator Complex
Academic Article Mutations in filamin 1 prevent migration of cerebral cortical neurons in human periventricular heterotopia.
Academic Article "Molecular rulers" for calibrating phenotypic effects of telomere imbalance.
Academic Article Clinical and molecular basis of classical lissencephaly: Mutations in the LIS1 gene (PAFAH1B1).
Academic Article Mutations of ARX are associated with striking pleiotropy and consistent genotype-phenotype correlation.
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 Hereditary hyperekplexia caused by novel mutations of GLRA1 in Turkish families.
Academic Article Association and mutation analyses of 16p11.2 autism candidate genes.
Academic Article Genetic links between brain development and brain evolution.
Academic Article The core FOXG1 syndrome phenotype consists of postnatal microcephaly, severe mental retardation, absent language, dyskinesia, and corpus callosum hypogenesis.
Academic Article The location and type of mutation predict malformation severity in isolated lissencephaly caused by abnormalities within the LIS1 gene.
Academic Article New recessive syndrome of microcephaly, cerebellar hypoplasia, and congenital heart conduction defect.
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 Familial hydrocephalus with normal cognition and distinctive radiological features.
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 POMGnT1 mutation and phenotypic spectrum in muscle-eye-brain disease.
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 A drosophila genetic resource of mutants to study mechanisms underlying human genetic diseases.
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 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 Interneuron deficits in patients with the Miller-Dieker syndrome.
Academic Article Rhombencephalosynapsis: a hindbrain malformation associated with incomplete separation of midbrain and forebrain, hydrocephalus and a broad spectrum of severity.
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 STIL mutation causes autosomal recessive microcephalic lobar holoprosencephaly.
Academic Article Agenesis of the corpus callosum and congenital lymphedema: A novel recognizable syndrome?
Academic Article Microcephaly with simplified gyral pattern in six related children.
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 Molecular and neuroimaging findings in pontocerebellar hypoplasia type 2 (PCH2): is prenatal diagnosis possible?
Academic Article The phenotypic spectrum of rapid-onset dystonia-parkinsonism (RDP) and mutations in the ATP1A3 gene.
Academic Article Differences in the gyral pattern distinguish chromosome 17-linked and X-linked lissencephaly.
Academic Article Pontocerebellar hypoplasia type 6: A British case with PEHO-like features.
Academic Article Microdeletions of chromosome 17p13 as a cause of isolated lissencephaly.
Academic Article Antibodies to ACTH in opsoclonus-myoclonus.
Academic Article Identification of genomic loci contributing to agenesis of the corpus callosum.
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 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 Targeted loss of Arx results in a developmental epilepsy mouse model and recapitulates the human phenotype in heterozygous females.
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 Absence makes the search grow longer.
Academic Article Isolation of a Miller-Dieker lissencephaly gene containing G protein beta-subunit-like repeats.
Academic Article Clinical, neuroradiological and genetic findings in pontocerebellar hypoplasia.
Academic Article Mechanisms of interhemispheric transfer and patterns of cognitive function in acallosal patients of normal intelligence.
Academic Article Detection of deletions and cryptic translocations in Miller-Dieker syndrome by in situ hybridization.
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 Bilateral frontal polymicrogyria: a newly recognized brain malformation syndrome.
Academic Article Evidence for genetic heterogeneity in tuberous sclerosis: one locus on chromosome 9 and at least one locus elsewhere.
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 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 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 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 Variable phenotype of rapid-onset dystonia-parkinsonism.
Academic Article Lissencephaly and subcortical band heterotopia: molecular basis and diagnosis.
Academic Article Mutations in the oligophrenin-1 gene (OPHN1) cause X linked congenital cerebellar hypoplasia.
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 Fluorescence in situ hybridization analysis with LIS1 specific probes reveals a high deletion mutation rate in isolated lissencephaly sequence.
Academic Article Neuropathology of brain and spinal malformations in a case of monosomy 1p36.
Academic Article Autosomal dominant torsion dystonia with onset in infancy.
Academic Article Diencephalic-mesencephalic junction dysplasia: a novel recessive brain malformation.
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 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 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 Bioinformatics and data-intensive scientific discovery in the beginning of the 21st century.
Academic Article New chromosomal syndrome: Miller-Dieker syndrome and monosomy 17p13.
Academic Article Carriers and patients with muscle-eye-brain disease can be rapidly diagnosed by enzymatic analysis of fibroblasts and lymphoblasts.
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 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 G protein-coupled receptor-dependent development of human frontal cortex.
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 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 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 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 Refined linkage to the RDP/DYT12 locus on 19q13.2 and evaluation of GRIK5 as a candidate gene.
Academic Article The microcephaly-capillary malformation syndrome.
Academic Article Septo-optic dysplasia and amniotic bands: further evidence for a vascular pathogenesis.
Academic Article Cerebellar and posterior fossa malformations in patients with autism-associated chromosome 22q13 terminal deletion.
Academic Article The NPHP1 gene deletion associated with juvenile nephronophthisis is present in a subset of individuals with Joubert syndrome.
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 Mutations in the Na+/K+ -ATPase alpha3 gene ATP1A3 are associated with rapid-onset dystonia parkinsonism.
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 Heterozygous deletion of the linked genes ZIC1 and ZIC4 is involved in Dandy-Walker malformation.
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 Overlapping cortical malformations and mutations in TUBB2B and TUBA1A.
Academic Article Malformations of cortical development: clinical features and genetic causes.
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 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 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 Albright hereditary osteodystrophy and del(2) (q37.3) in four unrelated individuals.
Academic Article Mutations in the FKRP gene can cause muscle-eye-brain disease and Walker-Warburg syndrome.
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 TUBA1A mutations cause wide spectrum lissencephaly (smooth brain) and suggest that multiple neuronal migration pathways converge on alpha tubulins.
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 developmental and genetic classification for malformations of cortical development: update 2012.
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 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 Recognizable cerebellar dysplasia associated with mutations in multiple tubulin genes.
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 Description of 13 Infants Born During October 2015-January 2016 With Congenital Zika Virus Infection Without Microcephaly at Birth - Brazil.
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 Progress in autism research and postgenomic studies - Authors' reply.
Academic Article Why West? Comparisons of clinical, genetic and molecular features of infants with and without spasms.
Academic Article Homozygous TAF8 mutation in a patient with intellectual disability results in undetectable TAF8 protein, but preserved RNA polymerase II transcription.
Academic Article Analysis of 17 genes detects mutations in 81% of 811 patients with lissencephaly.
Academic Article Abstracts from Hydrocephalus 2016.
Academic Article Mutations in MAST1 Cause Mega-Corpus-Callosum Syndrome with Cerebellar Hypoplasia and Cortical Malformations.
Academic Article Duplication 2p16 is associated with perisylvian polymicrogyria.
Academic Article Activating variants in PDGFRB result in a spectrum of disorders responsive to imatinib monotherapy.
Academic Article Cell-free DNA as a diagnostic analyte for molecular diagnosis of vascular malformations.
Academic Article A dyadic approach to the delineation of diagnostic entities in clinical genomics.
Academic Article Acetylsalicylic acid suppression of the PI3K pathway as a novel medical therapy for head and neck lymphatic malformations.
Academic Article Lissencephaly: Update on diagnostics and clinical management.
Academic Article ACTA2-Related Dysgyria: An Under-Recognized Malformation of Cortical Development.
Academic Article ATP6V0C variants impair V-ATPase function causing a neurodevelopmental disorder often associated with epilepsy.
Concept Axon Guidance
Concept Katanin
Concept Ciliopathies
Concept Gene Ontology
Concept Ataxia Telangiectasia Mutated Proteins
Concept Hemimegalencephaly
Concept Cerebellar Vermis
Concept Polymicrogyria
Grant LISSENCEPHALY--MOLECULAR BASIS OF NEURONAL MIGRATION
Search Criteria
  • Chromosomes Human
  • 13
  • 15