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Dobyns, William

One or more keywords matched the following items that are connected to Dobyns, William

Item Type	Name
Concept	Adrenal Gland Diseases
Concept	Brain Diseases
Concept	Corneal Diseases
Concept	Basal Ganglia Diseases
Concept	Cerebellar Diseases
Concept	Fetal Diseases
Concept	Connective Tissue Diseases
Concept	Disease
Concept	Demyelinating Diseases
Concept	Eye Diseases
Concept	Diseases in Twins
Concept	Kidney Diseases
Concept	Muscular Diseases
Concept	Nervous System Diseases
Concept	Peripheral Nervous System Diseases
Concept	Parkinson Disease, Secondary
Concept	Hirschsprung Disease
Concept	Retinal Diseases
Concept	Skin Diseases
Concept	Disease Management
Concept	Vascular Diseases
Concept	Vestibular Diseases
Concept	Disease Progression
Concept	Parkinson Disease
Concept	Skin Diseases, Vascular
Concept	Genetic Diseases, X-Linked
Concept	Intracranial Arterial Diseases
Concept	Genetic Diseases, Inborn
Concept	Cerebral Small Vessel Diseases
Concept	Kidney Diseases, Cystic
Concept	Eye Diseases, Hereditary
Concept	Neurodegenerative Diseases
Concept	Bone Diseases, Developmental
Concept	Disease Models, Animal
Concept	Hypothalamic Diseases
Concept	Liver Diseases
Concept	Genetic Predisposition to Disease
Academic Article	Mutations in filamin 1 prevent migration of cerebral cortical neurons in human periventricular heterotopia.
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	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	Intragenic deletions and duplications of the LIS1 and DCX genes: a major disease-causing mechanism in lissencephaly and subcortical band heterotopia.
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	Identification of a novel recessive RELN mutation using a homozygous balanced reciprocal translocation.
Academic Article	Mutations of CASK cause an X-linked brain malformation phenotype with microcephaly and hypoplasia of the brainstem and cerebellum.
Academic Article	Expanding the differential diagnosis of fetal hydrops: an unusual prenatal presentation of megalencephaly-capillary malformation syndrome.
Academic Article	POMGnT1 mutation and phenotypic spectrum in muscle-eye-brain disease.
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	AP1S2 is mutated in X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizures (Pettigrew syndrome).
Academic Article	Developmental aspects of lissencephaly and the lissencephaly syndromes.
Academic Article	Mutations in LAMB1 cause cobblestone brain malformation without muscular or ocular abnormalities.
Academic Article	Clinical spectrum of Wilson's disease (hepatolenticular degeneration).
Academic Article	Neonatal adrenoleukodystrophy: new cases, biochemical studies, and differentiation from Zellweger and related peroxisomal polydystrophy syndromes.
Academic Article	Characterization of mutations in the gene doublecortin in patients with double cortex syndrome.
Academic Article	Mutation of FOXC1 and PITX2 induces cerebral small-vessel disease.
Academic Article	Familial cavernous malformations of the central nervous system and retina.
Academic Article	Genetic and biologic classification of infantile spasms.
Academic Article	Primary microcephaly: new approaches for an old disorder.
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	Rapid-onset dystonia-parkinsonism.
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	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	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	Absence makes the search grow longer.
Academic Article	Somatic and germline mosaic mutations in the doublecortin gene are associated with variable phenotypes.
Academic Article	Rapid onset dystonia-parkinsonism in a 14-year-old girl.
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	Epidermal nevus syndrome: a neurologic variant with hemimegalencephaly, gyral malformation, mental retardation, seizures, and facial hemihypertrophy.
Academic Article	Familial lissencephaly with cleft palate and severe cerebellar hypoplasia.
Academic Article	The "megalencephaly-capillary malformation" (MCAP) syndrome: the nomenclature of a highly recognizable multiple congenital anomaly syndrome.
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	Rapid-onset dystonia-parkinsonism in a second family.
Academic Article	Variable phenotype of rapid-onset dystonia-parkinsonism.
Academic Article	Novel mutations in ATP1A3 associated with catastrophic early life epilepsy, episodic prolonged apnea, and postnatal microcephaly.
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	AHI1 mutations cause both retinal dystrophy and renal cystic disease in Joubert syndrome.
Academic Article	Beyond Gómez-López-Hernández syndrome: recurring phenotypic themes in rhombencephalosynapsis.
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	A developmental and genetic classification for malformations of cortical development.
Academic Article	Clinical and genetic distinction between Walker-Warburg syndrome and muscle-eye-brain disease.
Academic Article	Brain anomalies in encephalocraniocutaneous lipomatosis.
Academic Article	Polymicrogyria and motor neuropathy in Micro syndrome.
Academic Article	LIS1 missense mutations cause milder lissencephaly phenotypes including a child with normal IQ.
Academic Article	Carriers and patients with muscle-eye-brain disease can be rapidly diagnosed by enzymatic analysis of fibroblasts and lymphoblasts.
Academic Article	Cerebellar ataxia with progressive improvement.
Academic Article	COL4A1 mutations cause ocular dysgenesis, neuronal localization defects, and myopathy in mice and Walker-Warburg syndrome in humans.
Academic Article	AHI1 gene mutations cause specific forms of Joubert syndrome-related disorders.
Academic Article	Valproate-induced liver failure in one of two siblings with Alpers disease.
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	Incomplete penetrance with normal MRI in a woman with germline mutation of the DCX gene.
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	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	Bilateral periventricular nodular heterotopia with mental retardation and syndactyly in boys: a new X-linked mental retardation syndrome.
Academic Article	Cerebrospinal fluid homovanillic acid levels in rapid-onset dystonia-parkinsonism.
Academic Article	Septo-optic dysplasia and amniotic bands: further evidence for a vascular pathogenesis.
Academic Article	The NPHP1 gene deletion associated with juvenile nephronophthisis is present in a subset of individuals with Joubert syndrome.
Academic Article	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	Mutations in the cilia gene ARL13B lead to the classical form of Joubert syndrome.
Academic Article	Familial perisylvian polymicrogyria: a new familial syndrome of cortical maldevelopment.
Academic Article	Lissencephaly and the molecular basis of neuronal migration.
Academic Article	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	Mutations in the FKRP gene can cause muscle-eye-brain disease and Walker-Warburg syndrome.
Academic Article	Rapid-onset dystonia-parkinsonism: a report of clinical, biochemical, and genetic studies in two families.
Academic Article	Classification of the cerebro-oculo-muscular syndrome(s). Commentary to Kimura's paper (pp. 182-91)
Academic Article	Vascular abnormalities in epidermal nevus syndrome.
Academic Article	PI3K/AKT pathway mutations cause a spectrum of brain malformations from megalencephaly to focal cortical dysplasia.
Academic Article	Semiquantitative analysis of hypothalamic damage on MRI predicts risk for hypothalamic obesity.
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	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	Variable brain phenotype primarily affects the brainstem and cerebellum in patients with osteogenesis imperfecta caused by recessive WNT1 mutations.
Academic Article	Phenotype Differentiation of FOXG1 and MECP2 Disorders: A New Method for Characterization of Developmental Encephalopathies.
Academic Article	Neuroimaging findings in Mowat-Wilson syndrome: a study of 54 patients.
Academic Article	Biallelic mutations in the 3' exonuclease TOE1 cause pontocerebellar hypoplasia and uncover a role in snRNA processing.
Academic Article	Phenotypic outcomes in Mouse and Human Foxc1 dependent Dandy-Walker cerebellar malformation suggest shared mechanisms.
Academic Article	GRIN2B encephalopathy: novel findings on phenotype, variant clustering, functional consequences and treatment aspects.
Academic Article	Mutations in ARMC9, which Encodes a Basal Body Protein, Cause Joubert Syndrome in Humans and Ciliopathy Phenotypes in Zebrafish.
Academic Article	Congenital Zika virus infection as a silent pathology with loss of neurogenic output in the fetal brain.
Academic Article	Early-Life Epilepsies and the Emerging Role of Genetic Testing.
Academic Article	Autosomal-dominant early-onset spastic paraparesis with brain calcification due to IFIH1 gain-of-function.
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 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	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	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	Biallelic loss of function variants in ATP1A2 cause hydrops fetalis, microcephaly, arthrogryposis and extensive cortical malformations.
Academic Article	Costello syndrome: Clinical phenotype, genotype, and management guidelines.
Academic Article	Subcortical heterotopic gray matter brain malformations: Classification study of 107 individuals.
Academic Article	Loss of SMPD4 Causes a Developmental Disorder Characterized by Microcephaly and Congenital Arthrogryposis.
Academic Article	Duplication 2p16 is associated with perisylvian polymicrogyria.
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	Defining the phenotypical spectrum associated with variants in TUBB2A.
Academic Article	Genotype-phenotype correlation at codon 1740 of SETD2.
Academic Article	The spectrum of brain malformations and disruptions in twins.
Academic Article	A dyadic approach to the delineation of diagnostic entities in clinical genomics.
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	ATP1A2- and ATP1A3-associated early profound epileptic encephalopathy and polymicrogyria.
Academic Article	Missense variants in DPYSL5 cause a neurodevelopmental disorder with corpus callosum agenesis and cerebellar abnormalities.
Academic Article	The Names of Things: The 2018 Bernard Sachs Lecture.
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.
Academic Article	ATP6V0C variants impair V-ATPase function causing a neurodevelopmental disorder often associated with epilepsy.
Concept	Neurodevelopmental Disorders
Grant	ACC: Callosal Agenesis as a Window into Common Neurodevelopmental Disorders
Academic Article	Pathogenic variants in SMARCA1 cause an X-linked neurodevelopmental disorder modulated by NURF complex composition.

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Neurodevelopmental
Diseases