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Dobyns, William
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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 Chromosomal Proteins, Non-Histone
Concept Hearing Loss, Sensorineural
Concept Dandy-Walker Syndrome
Concept Diabetes Mellitus, Type 1
Concept Hernia, Umbilical
Concept Cystic Fibrosis
Concept Cysts
Concept Contractile Proteins
Concept Hypesthesia
Concept Digestive System Abnormalities
Concept Disease
Concept DNA-Binding Proteins
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 Eye Proteins
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 Microtubule-Associated Proteins
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
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Concept Intestinal Atresia
Concept Paresis
Concept Facial Expression
Concept Gastroesophageal Reflux
Concept Headache
Concept Membrane Proteins
Concept Language Development Disorders
Concept Functional Laterality
Concept Hypertension, Portal
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Concept Microfilament Proteins
Concept Movement Disorders
Concept Muscular Diseases
Concept Nerve Tissue Proteins
Concept Monosaccharide Transport Proteins
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 Proteins
Concept Genetic Markers
Concept Hirschsprung Disease
Concept Hamartoma
Concept Heart Defects, Congenital
Concept Repressor Proteins
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 Oncogene Proteins, Fusion
Concept Rett Syndrome
Concept Trinucleotide Repeat Expansion
Concept Vascular Diseases
Concept Velopharyngeal Insufficiency
Concept Urogenital Abnormalities
Concept Extracellular Matrix Proteins
Concept Central Nervous System Neoplasms
Concept Sex Chromosome Disorders
Concept Antiphospholipid Syndrome
Concept Zebrafish Proteins
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 RNA-Binding Proteins
Concept Stiff-Person Syndrome
Concept Sequence Deletion
Concept ras Proteins
Concept Myofibromatosis
Concept Craniofacial Abnormalities
Concept Armadillo Domain Proteins
Concept Stereotypic Movement Disorder
Concept Recovery of Function
Concept Aging, Premature
Concept Drosophila Proteins
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 rab GTP-Binding Proteins
Concept Polydactyly
Concept Fatal Outcome
Concept Sotos Syndrome
Concept Megalencephaly
Concept Optic Atrophy
Concept Intercellular Signaling Peptides and Proteins
Concept Genetic Diseases, X-Linked
Concept Lymphatic Abnormalities
Concept Mental Retardation, X-Linked
Concept Green Fluorescent Proteins
Concept Rhabdoid Tumor
Concept Sodium-Phosphate Cotransporter Proteins, Type III
Concept Cell Cycle Proteins
Concept Congenital Disorders of Glycosylation
Concept Paraparesis, Spastic
Concept rab3 GTP-Binding Proteins
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 Saccharomyces cerevisiae Proteins
Concept Polyradiculoneuropathy
Concept Pregnancy Complications, Infectious
Concept Pseudopseudohypoparathyroidism
Concept Pseudotumor Cerebri
Concept Recombinant Proteins
Concept Hedgehog Proteins
Concept Lissencephaly
Concept Cobblestone Lissencephaly
Concept Sex Chromosome Aberrations
Concept Schizophrenia
Concept Spinocerebellar Degenerations
Concept beta-Transducin Repeat-Containing Proteins
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 Adaptor Proteins, Signal Transducing
Concept Periventricular Nodular Heterotopia
Concept Telangiectasis
Concept Hydrops Fetalis
Concept Aicardi Syndrome
Concept Kidney Diseases, Cystic
Concept Tuberous Sclerosis
Concept Eye Diseases, Hereditary
Concept Argonaute Proteins
Concept Proto-Oncogene Proteins p21(ras)
Concept GTP-Binding Proteins
Concept Malformations of Cortical Development, Group II
Concept Ectopia Cordis
Concept Stroke
Concept T-Box Domain Proteins
Concept Acrocallosal Syndrome
Concept Homeodomain Proteins
Concept Williams Syndrome
Concept Neurodegenerative Diseases
Concept GTPase-Activating Proteins
Concept Dystonic Disorders
Concept Hearing Loss
Concept Chromosome Disorders
Concept Tumor Suppressor Proteins
Concept Mutant Proteins
Concept Vascular Malformations
Concept Immune Evasion
Concept Haploinsufficiency
Concept Chromosome Duplication
Concept Intracellular Signaling Peptides and Proteins
Concept 14-3-3 Proteins
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 Calcium-Binding Proteins
Concept Carrier Proteins
Concept Chromosome Aberrations
Concept Clubfoot
Concept Craniopharyngioma
Concept Cryptorchidism
Concept Cytoskeletal Proteins
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 Luminescent Proteins
Concept Lymphedema
Concept Muscle Spasticity
Concept Neoplasm Proteins
Concept Neoplasms
Concept Nuclear Proteins
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 Proto-Oncogene Proteins c-sis
Concept Parkinsonian Disorders
Concept Central Nervous System Vascular Malformations
Concept Membrane Transport Proteins
Concept Vesicular Transport Proteins
Concept Adaptor Proteins, Vesicular Transport
Concept Proto-Oncogene Proteins c-akt
Concept Leukoencephalopathies
Concept Loose Anagen Hair Syndrome
Academic Article Genetic and neuroradiological heterogeneity of double cortex syndrome.
Academic Article Periventricular nodular heterotopia in patients with filamin-1 gene mutations: neuroimaging findings.
Academic Article Mutations in filamin 1 prevent migration of cerebral cortical neurons in human periventricular heterotopia.
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 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 Recurrent 16p11.2 microdeletions in autism.
Academic Article Novel submicroscopic chromosomal abnormalities detected in autism spectrum disorder.
Academic Article Association and mutation analyses of 16p11.2 autism candidate genes.
Academic Article Genetic links between brain development and brain evolution.
Academic Article Intragenic deletions and duplications of the LIS1 and DCX genes: a major disease-causing mechanism in lissencephaly and subcortical band heterotopia.
Academic Article A novel missense mutation in LIS1 in a child with subcortical band heterotopia and pachygyria inherited from his mildly affected mother with somatic mosaicism.
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 CDKL5 and ARX mutations in males with early-onset epilepsy.
Academic Article Identification of a novel recessive RELN mutation using a homozygous balanced reciprocal translocation.
Academic Article Clinical spectrum of SIX3-associated mutations in holoprosencephaly: correlation between genotype, phenotype and function.
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 The molecular landscape of ASPM mutations in primary microcephaly.
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 Ethnically diverse causes of Walker-Warburg syndrome (WWS): FCMD mutations are a more common cause of WWS outside of the Middle East.
Academic Article Males with epilepsy, complete subcortical band heterotopia, and somatic mosaicism for DCX.
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 Chiari I malformation, delayed gross motor skills, severe speech delay, and epileptiform discharges in a child with FOXP1 haploinsufficiency.
Academic Article PRKDC mutations in a SCID patient with profound neurological abnormalities.
Academic Article Megalencephaly syndromes and activating mutations in the PI3K-AKT pathway: MPPH and MCAP.
Academic Article STIL mutation causes autosomal recessive microcephalic lobar holoprosencephaly.
Academic Article WDR62 is associated with the spindle pole and is mutated in human microcephaly.
Academic Article Clinical spectrum of Wilson's disease (hepatolenticular degeneration).
Academic Article Truncation of NHEJ1 in a patient with polymicrogyria.
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 Primary microcephaly: new approaches for an old disorder.
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 Subcortical band heterotopia in rare affected males can be caused by missense mutations in DCX (XLIS) or LIS1.
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 Clinical nosologic and genetic aspects of Joubert and related syndromes.
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 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 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 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 Causal heterogeneity in isolated lissencephaly.
Academic Article Autosomal dominant optic nerve colobomas, vesicoureteral reflux, and renal anomalies.
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 Lissencephaly associated mutations suggest a requirement for the PAFAH1B heterotrimeric complex in brain development.
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 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 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 AHI1 mutations cause both retinal dystrophy and renal cystic disease in Joubert syndrome.
Academic Article Enzymatic diagnostic test for Muscle-Eye-Brain type congenital muscular dystrophy using commercially available reagents.
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 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 Congenital pontocerebellar atrophy in three patients: clinical, radiologic and etiologic considerations.
Academic Article A de novo 1p34.2 microdeletion identifies the synaptic vesicle gene RIMS3 as a novel candidate for autism.
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 Polymicrogyria and motor neuropathy in Micro syndrome.
Academic Article Autosomal dominant cerebellar ataxia (SCA6) associated with small polyglutamine expansions in the alpha 1A-voltage-dependent calcium channel.
Academic Article Lissencephaly and other malformations of cortical development: 1995 update.
Academic Article CHMP1A encodes an essential regulator of BMI1-INK4A in cerebellar development.
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 Macrocephaly-cutis marmorata telangiectatica congenita: a distinct disorder with developmental delay and connective tissue abnormalities.
Academic Article Cerebellar ataxia with progressive improvement.
Academic Article AHI1 gene mutations cause specific forms of Joubert syndrome-related disorders.
Academic Article Mutations in CENPE define a novel kinetochore-centromeric mechanism for microcephalic primordial dwarfism.
Academic Article Incomplete penetrance with normal MRI in a woman with germline mutation of the DCX gene.
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 Polymicrogyria includes fusion of the molecular layer and decreased neuronal populations but normal cortical laminar organization.
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 No major role for the EMX2 gene in schizencephaly.
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 Long-term survival in TARP syndrome and confirmation of RBM10 as the disease-causing gene.
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 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 LIS1: from cortical malformation to essential protein of cellular dynamics.
Academic Article Cerebrospinal fluid homovanillic acid levels in rapid-onset dystonia-parkinsonism.
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 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 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 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 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 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 Olivopontocerebellar atrophy leading to recognition of carbohydrate-deficient glycoprotein syndrome type I.
Academic Article Corpus callosum agenesis, severe mental retardation, epilepsy, and dyskinetic quadriparesis due to a novel mutation in the homeodomain of ARX.
Academic Article Loss-of-function mutations in RAB18 cause Warburg micro syndrome.
Academic Article RTTN mutations link primary cilia function to organization of the human cerebral cortex.
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 Mutation of the PAX2 gene in a family with optic nerve colobomas, renal anomalies and vesicoureteral reflux.
Academic Article Childhood stroke and lupus anticoagulant.
Academic Article SRD5A3 is required for converting polyprenol to dolichol and is mutated in a congenital glycosylation disorder.
Academic Article Expanding the SHOC2 mutation associated phenotype of Noonan syndrome with loose anagen hair: structural brain anomalies and myelofibrosis.
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 Genetic and functional analyses identify DISC1 as a novel callosal agenesis candidate gene.
Academic Article PI3K/AKT pathway mutations cause a spectrum of brain malformations from megalencephaly to focal cortical dysplasia.
Academic Article Functional genome-wide siRNA screen identifies KIAA0586 as mutated in Joubert syndrome.
Academic Article Progress in autism and related disorders of brain development.
Academic Article Familial recurrences of FOXG1-related disorder: Evidence for mosaicism.
Academic Article Mouse models of human PIK3CA-related brain overgrowth have acutely treatable epilepsy.
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 Association of MTOR Mutations With Developmental Brain Disorders, Including Megalencephaly, Focal Cortical Dysplasia, and Pigmentary Mosaicism.
Academic Article A novel rasopathy caused by recurrent de novo missense mutations in PPP1CB closely resembles Noonan syndrome with loose anagen hair.
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 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 Biallelic mutations in the 3' exonuclease TOE1 cause pontocerebellar hypoplasia and uncover a role in snRNA processing.
Academic Article Catenin delta-1 (CTNND1) phosphorylation controls the mesenchymal to epithelial transition in astrocytic tumors.
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 Mutations in ARMC9, which Encodes a Basal Body Protein, Cause Joubert Syndrome in Humans and Ciliopathy Phenotypes in Zebrafish.
Academic Article MACF1 Mutations Encoding Highly Conserved Zinc-Binding Residues of the GAR Domain Cause Defects in Neuronal Migration and Axon Guidance.
Academic Article Progress in autism research and postgenomic studies - Authors' reply.
Academic Article De novo and inherited private variants in MAP1B in periventricular nodular heterotopia.
Academic Article The Genetic Landscape of Cerebral Steno-Occlusive Arteriopathy and Stroke in Sickle Cell Anemia.
Academic Article Delineating SPTAN1 associated phenotypes: from isolated epilepsy to encephalopathy with progressive brain atrophy.
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 Hypomorphic Recessive Variants in SUFU Impair the Sonic Hedgehog Pathway and Cause Joubert Syndrome with Cranio-facial and Skeletal Defects.
Academic Article Mutations of AKT3 are associated with a wide spectrum of developmental disorders including extreme megalencephaly.
Academic Article Biallelic loss of human CTNNA2, encoding aN-catenin, leads to ARP2/3 complex overactivity and disordered cortical neuronal migration.
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 Rhombencephalosynapsis: Fused cerebellum, confused geneticists.
Academic Article SLC35A2-CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals.
Academic Article Heterogeneous clinical phenotypes and cerebral malformations reflected by rotatin cellular dynamics.
Academic Article Costello syndrome: Clinical phenotype, genotype, and management guidelines.
Academic Article De Novo Variants in WDR37 Are Associated with Epilepsy, Colobomas, Dysmorphism, Developmental Delay, Intellectual Disability, and Cerebellar Hypoplasia.
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 Loss of SMPD4 Causes a Developmental Disorder Characterized by Microcephaly and Congenital Arthrogryposis.
Academic Article Bi-allelic Loss of Human APC2, Encoding Adenomatous Polyposis Coli Protein 2, Leads to Lissencephaly, Subcortical Heterotopia, and Global Developmental Delay.
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 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 Pathogenic Variants in CEP85L Cause Sporadic and Familial Posterior Predominant Lissencephaly.
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 Disruption of RFX family transcription factors causes autism, attention-deficit/hyperactivity disorder, intellectual disability, and dysregulated behavior.
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 NRF1 association with AUTS2-Polycomb mediates specific gene activation in the brain.
Academic Article De novo coding variants in the AGO1 gene cause a neurodevelopmental disorder with intellectual disability.
Academic Article Profiling PI3K-AKT-MTOR variants in focal brain malformations reveals new insights for diagnostic care.
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.
Academic Article ATP6V0C variants impair V-ATPase function causing a neurodevelopmental disorder often associated with epilepsy.
Academic Article Bi-allelic CAMSAP1 variants cause a clinically recognizable neuronal migration disorder.
Concept Autism Spectrum Disorder
Concept Pediatric Obesity
Concept Ataxia Telangiectasia Mutated Proteins
Concept Hemimegalencephaly
Concept Neurodevelopmental Disorders
Concept Polymicrogyria
Grant ACC: Callosal Agenesis as a Window into Common Neurodevelopmental Disorders
Grant LISSENCEPHALY--MOLECULAR BASIS OF NEURONAL MIGRATION
Grant Megalencephaly and segmental brain overgrowth in humans
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 Undifferentiated psychosis or schizophrenia associated with vermis-predominant cerebellar hypoplasia.
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