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Dobyns, William

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

Item Type	Name
Concept	Developmental Disabilities
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	Mutations in STAMBP, encoding a deubiquitinating enzyme, cause microcephaly-capillary malformation syndrome.
Academic Article	Chiari I malformation, delayed gross motor skills, severe speech delay, and epileptiform discharges in a child with FOXP1 haploinsufficiency.
Academic Article	De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndrome.
Academic Article	Genetic and biologic classification of infantile spasms.
Academic Article	Recessive developmental delay, small stature, microcephaly and brain calcifications with locus on chromosome 2.
Academic Article	Clinical nosologic and genetic aspects of Joubert and related syndromes.
Academic Article	Periventricular heterotopia in 6q terminal deletion syndrome: role of the C6orf70 gene.
Academic Article	Both rare and de novo copy number variants are prevalent in agenesis of the corpus callosum but not in cerebellar hypoplasia or polymicrogyria.
Academic Article	Megalencephaly and perisylvian polymicrogyria with postaxial polydactyly and hydrocephalus (MPPH): report of a new case.
Academic Article	Characterization of brain malformations in the Baraitser-Winter syndrome and review of the literature.
Academic Article	Macrocephaly-cutis marmorata telangiectatica congenita: a distinct disorder with developmental delay and connective tissue abnormalities.
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	Previously apparently undescribed syndrome: shallow orbits, ptosis, coloboma, trigonocephaly, gyral malformations, and mental and growth retardation.
Academic Article	Cerebellar and posterior fossa malformations in patients with autism-associated chromosome 22q13 terminal deletion.
Academic Article	Molar tooth sign of the midbrain-hindbrain junction: occurrence in multiple distinct syndromes.
Academic Article	The Developmental Brain Disorders Database (DBDB): a curated neurogenetics knowledge base with clinical and research applications.
Academic Article	Microlissencephaly: a heterogeneous malformation of cortical development.
Academic Article	Malformations of cortical development: clinical features and genetic causes.
Academic Article	MEF2C Haploinsufficiency features consistent hyperkinesis, variable epilepsy, and has a role in dorsal and ventral neuronal developmental pathways.
Academic Article	A developmental and genetic classification for malformations of cortical development: update 2012.
Academic Article	Clinical and imaging heterogeneity of polymicrogyria: a study of 328 patients.
Academic Article	Variable brain phenotype primarily affects the brainstem and cerebellum in patients with osteogenesis imperfecta caused by recessive WNT1 mutations.
Academic Article	Association of MTOR Mutations With Developmental Brain Disorders, Including Megalencephaly, Focal Cortical Dysplasia, and Pigmentary Mosaicism.
Academic Article	Human mutations in integrator complex subunits link transcriptome integrity to brain development.
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	Mutations of AKT3 are associated with a wide spectrum of developmental disorders including extreme megalencephaly.
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	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	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	Autosomal dominant TUBB3-related syndrome: Fetal, radiologic, clinical and morphological features.
Academic Article	Defining the phenotypical spectrum associated with variants in TUBB2A.
Academic Article	Genotype-phenotype correlation at codon 1740 of SETD2.
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.
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.
Academic Article	Undifferentiated psychosis or schizophrenia associated with vermis-predominant cerebellar hypoplasia.

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Neurodevelopmental
Disabilities