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One or more keywords matched the following items that are connected to Dobyns, William
Item TypeName
Concept Aortic Coarctation
Concept Ataxia
Concept Aneurysm
Concept Congenital Abnormalities
Concept Abnormalities, Multiple
Concept Adrenal Gland Diseases
Concept Amino Acid Metabolism, Inborn Errors
Concept Brain Damage, Chronic
Concept Brain Diseases
Concept Alopecia
Concept Adrenoleukodystrophy
Concept Intracranial Aneurysm
Concept Diffuse Cerebral Sclerosis of Schilder
Concept Aneuploidy
Concept Chromosome Fragility
Concept Anus, Imperforate
Concept Arthrogryposis
Concept Amniotic Band Syndrome
Concept Cleft Lip
Concept Arnold-Chiari Malformation
Concept Corneal Diseases
Concept Cerebral Infarction
Concept Attention Deficit Disorder with Hyperactivity
Concept Ataxia Telangiectasia
Concept DNA Damage
Concept Atrophy
Concept Choristoma
Concept Autistic Disorder
Concept Basal Ganglia Diseases
Concept Mental Disorders
Concept Bladder Exstrophy
Concept Blepharoptosis
Concept Calcinosis
Concept Cerebrovascular Disorders
Concept Cataract
Concept Catastrophic Illness
Concept Cerebellar Ataxia
Concept Developmental Disabilities
Concept Child Development Disorders, Pervasive
Concept Cerebellar Diseases
Concept Child Behavior Disorders
Concept Fetal Diseases
Concept Cell Transformation, Neoplastic
Concept Chromosome Deletion
Concept Coloboma
Concept Cleft Palate
Concept Cognition Disorders
Concept Growth Disorders
Concept Connective Tissue Diseases
Concept Chorea
Concept Hearing Loss, Sensorineural
Concept Dandy-Walker Syndrome
Concept Diabetes Mellitus, Type 1
Concept Hernia, Umbilical
Concept Cystic Fibrosis
Concept Cysts
Concept Hypesthesia
Concept Digestive System Abnormalities
Concept Disease
Concept Demyelinating Diseases
Concept Epilepsy
Concept Congenital Hypothyroidism
Concept Cerebral Hemorrhage
Concept Cutis Laxa
Concept Ehlers-Danlos Syndrome
Concept Eye Movements
Concept Gonadal Dysgenesis, 46,XY
Concept Deglutition Disorders
Concept Eye Diseases
Concept Facial Neoplasms
Concept Eye Neoplasms
Concept Cockayne Syndrome
Concept Craniosynostoses
Concept Diplopia
Concept Diseases in Twins
Concept Dwarfism
Concept Fragile X Syndrome
Concept Fetal Growth Retardation
Concept Fibroma
Concept Chromosome Inversion
Concept Esophageal Atresia
Concept Eye Abnormalities
Concept Muscle Hypotonia
Concept Musculoskeletal Abnormalities
Concept Glaucoma
Concept Fibrous Dysplasia, Polyostotic
Concept Kidney Diseases
Concept Klippel-Trenaunay-Weber Syndrome
Concept Haemophilus Infections
Concept Focal Dermal Hypoplasia
Concept Osteogenesis Imperfecta
Concept Dystonia
Concept Dysarthria
Concept Edema
Concept Hypertrophy
Concept Intestinal Atresia
Concept Paresis
Concept Facial Expression
Concept Gastroesophageal Reflux
Concept Headache
Concept Language Development Disorders
Concept Functional Laterality
Concept Hypertension, Portal
Concept Microcephaly
Concept Movement Disorders
Concept Muscular Diseases
Concept Necrosis
Concept Intellectual Disability
Concept Microphthalmos
Concept Hemangioma, Cavernous
Concept Ring Chromosomes
Concept Nervous System Diseases
Concept Osteochondrodysplasias
Concept Liver Cirrhosis
Concept Peripheral Nervous System Diseases
Concept Parkinson Disease, Secondary
Concept Disorders of Sex Development
Concept Pierre Robin Syndrome
Concept Olivopontocerebellar Atrophies
Concept Postmortem Changes
Concept Genetic Markers
Concept Hirschsprung Disease
Concept Hamartoma
Concept Heart Defects, Congenital
Concept Retinal Degeneration
Concept Retinal Diseases
Concept Psychomotor Disorders
Concept Psychotic Disorders
Concept Quadriplegia
Concept Wolff-Parkinson-White Syndrome
Concept Spasms, Infantile
Concept Reye Syndrome
Concept Retinitis Pigmentosa
Concept Skin Abnormalities
Concept Skin Pigmentation
Concept Hepatolenticular Degeneration
Concept Skin Diseases
Concept Syndactyly
Concept Hypogonadism
Concept Body Mass Index
Concept Holoprosencephaly
Concept Tremor
Concept Tracheoesophageal Fistula
Concept Syndrome
Concept Trisomy
Concept Vesico-Ureteral Reflux
Concept Rett Syndrome
Concept Trinucleotide Repeat Expansion
Concept Vascular Diseases
Concept Velopharyngeal Insufficiency
Concept Urogenital Abnormalities
Concept Central Nervous System Neoplasms
Concept Sex Chromosome Disorders
Concept Antiphospholipid Syndrome
Concept Lupus Erythematosus, Systemic
Concept Mandibulofacial Dysostosis
Concept Weight Gain
Concept Vestibular Diseases
Concept Myoclonus
Concept Nervous System Malformations
Concept Limb Deformities, Congenital
Concept Muscular Dystrophies
Concept Neoplasm Metastasis
Concept Nerve Degeneration
Concept Nystagmus, Pathologic
Concept Severe Combined Immunodeficiency
Concept Blepharophimosis
Concept Stiff-Person Syndrome
Concept Sequence Deletion
Concept Myofibromatosis
Concept Craniofacial Abnormalities
Concept Stereotypic Movement Disorder
Concept Recovery of Function
Concept Aging, Premature
Concept Malformations of Cortical Development
Concept Parkinson Disease
Concept Nevus
Concept Nevus, Pigmented
Concept Noonan Syndrome
Concept Skin Diseases, Vascular
Concept Respiratory Rate
Concept Genetic Association Studies
Concept Polydactyly
Concept Fatal Outcome
Concept Sotos Syndrome
Concept Megalencephaly
Concept Optic Atrophy
Concept Genetic Diseases, X-Linked
Concept Lymphatic Abnormalities
Concept Mental Retardation, X-Linked
Concept Rhabdoid Tumor
Concept Congenital Disorders of Glycosylation
Concept Paraparesis, Spastic
Concept Intracranial Arterial Diseases
Concept Central Nervous System Cysts
Concept Migraine with Aura
Concept Genetic Diseases, Inborn
Concept Neurocutaneous Syndromes
Concept Spinocerebellar Ataxias
Concept Dyskinesias
Concept Septo-Optic Dysplasia
Concept Polyradiculoneuropathy
Concept Pregnancy Complications, Infectious
Concept Pseudopseudohypoparathyroidism
Concept Pseudotumor Cerebri
Concept Lissencephaly
Concept Cobblestone Lissencephaly
Concept Sex Chromosome Aberrations
Concept Schizophrenia
Concept Spinocerebellar Degenerations
Concept Teratoma
Concept Primary Myelofibrosis
Concept Costello Syndrome
Concept Cerebral Small Vessel Diseases
Concept Cognitive Dysfunction
Concept Agenesis of Corpus Callosum
Concept Skin Neoplasms
Concept Periventricular Nodular Heterotopia
Concept Telangiectasis
Concept Hydrops Fetalis
Concept Aicardi Syndrome
Concept Kidney Diseases, Cystic
Concept Tuberous Sclerosis
Concept Eye Diseases, Hereditary
Concept Malformations of Cortical Development, Group II
Concept Ectopia Cordis
Concept Stroke
Concept Acrocallosal Syndrome
Concept Williams Syndrome
Concept Neurodegenerative Diseases
Concept Dystonic Disorders
Concept Hearing Loss
Concept Chromosome Disorders
Concept Vascular Malformations
Concept Immune Evasion
Concept Haploinsufficiency
Concept Chromosome Duplication
Concept Classical Lissencephalies and Subcortical Band Heterotopias
Concept Body Dysmorphic Disorders
Concept 46, XX Disorders of Sex Development
Concept Walker-Warburg Syndrome
Concept Anemia, Sickle Cell
Concept Bone Diseases, Developmental
Concept Brain Neoplasms
Concept Chromosome Aberrations
Concept Clubfoot
Concept Craniopharyngioma
Concept Cryptorchidism
Concept Disease Models, Animal
Concept Encephalocele
Concept Facial Asymmetry
Concept Facial Paralysis
Concept Fetal Death
Concept Hand Deformities, Congenital
Concept Hydrocephalus
Concept Hyperkinesis
Concept Hypothalamic Diseases
Concept Lipomatosis
Concept Liver Diseases
Concept Lymphedema
Concept Muscle Spasticity
Concept Neoplasms
Concept Orofaciodigital Syndromes
Concept Pituitary Neoplasms
Concept Seizures
Concept Retinal Dysplasia
Concept Ocular Motility Disorders
Concept Liver Failure, Acute
Concept Age of Onset
Concept Chromosome Breakage
Concept Parkinsonian Disorders
Concept Central Nervous System Vascular Malformations
Concept Leukoencephalopathies
Concept Loose Anagen Hair Syndrome
Academic Article Mutations of ARX are associated with striking pleiotropy and consistent genotype-phenotype correlation.
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 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 Clinical spectrum of Wilson's disease (hepatolenticular degeneration).
Academic Article The phenotypic spectrum of rapid-onset dystonia-parkinsonism (RDP) and mutations in the ATP1A3 gene.
Academic Article PIK3CA-related overgrowth spectrum (PROS): diagnostic and testing eligibility criteria, differential diagnosis, and evaluation.
Academic Article Antibodies to ACTH in opsoclonus-myoclonus.
Academic Article Deficiency of chromosome 8p21.1----8pter: case report and review of the literature.
Academic Article Clinical nosologic and genetic aspects of Joubert and related syndromes.
Academic Article A classification scheme for malformations of cortical development.
Academic Article Absence makes the search grow longer.
Academic Article The duplication 17p13.3 phenotype: analysis of 21 families delineates developmental, behavioral and brain abnormalities, and rare variant phenotypes.
Academic Article Causal heterogeneity in isolated lissencephaly.
Academic Article Lymphatic and other vascular malformative/overgrowth disorders are caused by somatic mutations in PIK3CA.
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 Congenital pontocerebellar atrophy in three patients: clinical, radiologic and etiologic considerations.
Academic Article Miller-Dieker syndrome: lissencephaly and monosomy 17p.
Academic Article Polymicrogyria and motor neuropathy in Micro syndrome.
Academic Article Lissencephaly and other malformations of cortical development: 1995 update.
Academic Article New chromosomal syndrome: Miller-Dieker syndrome and monosomy 17p13.
Academic Article Cerebellar ataxia with progressive improvement.
Academic Article AHI1 gene mutations cause specific forms of Joubert syndrome-related disorders.
Academic Article The neurogenetics of lissencephaly.
Academic Article Four new patients with Gomez-Lopez-Hernandez syndrome and proposed diagnostic criteria.
Academic Article Copy number and sequence variants implicate APBA2 as an autism candidate gene.
Academic Article The molar tooth sign: a new Joubert syndrome and related cerebellar disorders classification system tested in Egyptian families.
Academic Article Refined linkage to the RDP/DYT12 locus on 19q13.2 and evaluation of GRIK5 as a candidate gene.
Academic Article Cerebrospinal fluid homovanillic acid levels in rapid-onset dystonia-parkinsonism.
Academic Article Cerebellar and posterior fossa malformations in patients with autism-associated chromosome 22q13 terminal deletion.
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 Epilepsy and outcome in FOXG1-related disorders.
Academic Article Microlissencephaly: a heterogeneous malformation of cortical development.
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 Olivopontocerebellar atrophy leading to recognition of carbohydrate-deficient glycoprotein syndrome type I.
Academic Article Diagnostic criteria for 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 Childhood stroke and lupus anticoagulant.
Academic Article Progress in autism and related disorders of brain development.
Academic Article Association of MTOR Mutations With Developmental Brain Disorders, Including Megalencephaly, Focal Cortical Dysplasia, and Pigmentary Mosaicism.
Academic Article Description of a new oncogenic mechanism for atypical teratoid rhabdoid tumors in patients with ring chromosome 22.
Academic Article Phenotype Differentiation of FOXG1 and MECP2 Disorders: A New Method for Characterization of Developmental Encephalopathies.
Academic Article Comparison of brain MRI findings with language and motor function in the dystroglycanopathies.
Academic Article PIK3CA-associated developmental disorders exhibit distinct classes of mutations with variable expression and tissue distribution.
Academic Article Delineating SPTAN1 associated phenotypes: from isolated epilepsy to encephalopathy with progressive brain atrophy.
Academic Article Mutations of AKT3 are associated with a wide spectrum of developmental disorders including extreme megalencephaly.
Academic Article Rhombencephalosynapsis: Fused cerebellum, confused geneticists.
Academic Article SLC35A2-CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals.
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 SETD2 related overgrowth syndrome: Presentation of four new patients and review of the literature.
Academic Article MN1 C-terminal truncation syndrome is a novel neurodevelopmental and craniofacial disorder with partial rhombencephalosynapsis.
Academic Article Pathogenic DDX3X Mutations Impair RNA Metabolism and Neurogenesis during Fetal Cortical Development.
Academic Article 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 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 DLG4-related synaptopathy: a new rare brain disorder.
Academic Article Missense variants in DPYSL5 cause a neurodevelopmental disorder with corpus callosum agenesis and cerebellar abnormalities.
Academic Article Expanding the KIF4A-associated phenotype.
Academic Article De novo coding variants in the AGO1 gene cause a neurodevelopmental disorder with intellectual disability.
Academic Article Monoallelic and biallelic mutations in RELN underlie a graded series of neurodevelopmental disorders.
Academic Article Heterozygous variants in MYH10 associated with neurodevelopmental disorders and congenital anomalies with evidence for primary cilia-dependent defects in Hedgehog signaling.
Concept Pediatric Obesity
Concept Hemimegalencephaly
Concept Neurodevelopmental Disorders
Concept Polymicrogyria
Grant ACC: Callosal Agenesis as a Window into Common Neurodevelopmental Disorders
Grant The genetic basis of Dandy-Walker and other mid-hindbrain malformations
Academic Article Undifferentiated psychosis or schizophrenia associated with vermis-predominant cerebellar hypoplasia.
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  • Neurogenetic
  • disorders