Item Type | Name |
Concept
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Developmental Disabilities
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Concept
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Child Development Disorders, Pervasive
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Academic Article
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A novel missense mutation in LIS1 in a child with subcortical band heterotopia and pachygyria inherited from his mildly affected mother with somatic mosaicism.
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Academic Article
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Mutations in STAMBP, encoding a deubiquitinating enzyme, cause microcephaly-capillary malformation syndrome.
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Academic Article
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Chiari I malformation, delayed gross motor skills, severe speech delay, and epileptiform discharges in a child with FOXP1 haploinsufficiency.
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Academic Article
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De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndrome.
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Academic Article
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Genetic and biologic classification of infantile spasms.
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Academic Article
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Recessive developmental delay, small stature, microcephaly and brain calcifications with locus on chromosome 2.
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Academic Article
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Clinical nosologic and genetic aspects of Joubert and related syndromes.
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Academic Article
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The duplication 17p13.3 phenotype: analysis of 21 families delineates developmental, behavioral and brain abnormalities, and rare variant phenotypes.
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Academic Article
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Periventricular heterotopia in 6q terminal deletion syndrome: role of the C6orf70 gene.
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Academic Article
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Both rare and de novo copy number variants are prevalent in agenesis of the corpus callosum but not in cerebellar hypoplasia or polymicrogyria.
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Academic Article
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Megalencephaly and perisylvian polymicrogyria with postaxial polydactyly and hydrocephalus (MPPH): report of a new case.
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Academic Article
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Characterization of brain malformations in the Baraitser-Winter syndrome and review of the literature.
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Academic Article
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Macrocephaly-cutis marmorata telangiectatica congenita: a distinct disorder with developmental delay and connective tissue abnormalities.
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Academic Article
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AHI1 gene mutations cause specific forms of Joubert syndrome-related disorders.
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Academic Article
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Mutations in CENPE define a novel kinetochore-centromeric mechanism for microcephalic primordial dwarfism.
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Academic Article
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Copy number and sequence variants implicate APBA2 as an autism candidate gene.
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Academic Article
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Previously apparently undescribed syndrome: shallow orbits, ptosis, coloboma, trigonocephaly, gyral malformations, and mental and growth retardation.
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Academic Article
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Cerebellar and posterior fossa malformations in patients with autism-associated chromosome 22q13 terminal deletion.
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Academic Article
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Molar tooth sign of the midbrain-hindbrain junction: occurrence in multiple distinct syndromes.
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Academic Article
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The Developmental Brain Disorders Database (DBDB): a curated neurogenetics knowledge base with clinical and research applications.
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Academic Article
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Microlissencephaly: a heterogeneous malformation of cortical development.
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Academic Article
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Malformations of cortical development: clinical features and genetic causes.
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Academic Article
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MEF2C Haploinsufficiency features consistent hyperkinesis, variable epilepsy, and has a role in dorsal and ventral neuronal developmental pathways.
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Academic Article
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A developmental and genetic classification for malformations of cortical development: update 2012.
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Academic Article
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Clinical and imaging heterogeneity of polymicrogyria: a study of 328 patients.
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Academic Article
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Variable brain phenotype primarily affects the brainstem and cerebellum in patients with osteogenesis imperfecta caused by recessive WNT1 mutations.
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Academic Article
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Association of MTOR Mutations With Developmental Brain Disorders, Including Megalencephaly, Focal Cortical Dysplasia, and Pigmentary Mosaicism.
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Academic Article
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Human mutations in integrator complex subunits link transcriptome integrity to brain development.
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Academic Article
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Mutations in MAST1 Cause Mega-Corpus-Callosum Syndrome with Cerebellar Hypoplasia and Cortical Malformations.
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Academic Article
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Mutations of AKT3 are associated with a wide spectrum of developmental disorders including extreme megalencephaly.
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Academic Article
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Costello syndrome: Clinical phenotype, genotype, and management guidelines.
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Academic Article
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De Novo Variants in WDR37 Are Associated with Epilepsy, Colobomas, Dysmorphism, Developmental Delay, Intellectual Disability, and Cerebellar Hypoplasia.
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Academic Article
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Bi-allelic Loss of Human APC2, Encoding Adenomatous Polyposis Coli Protein 2, Leads to Lissencephaly, Subcortical Heterotopia, and Global Developmental Delay.
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Academic Article
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Autosomal dominant TUBB3-related syndrome: Fetal, radiologic, clinical and morphological features.
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Academic Article
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Defining the phenotypical spectrum associated with variants in TUBB2A.
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Academic Article
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Variants in GNAI1 cause a syndrome associated with variable features including developmental delay, seizures, and hypotonia.
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Academic Article
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Monoallelic and biallelic mutations in RELN underlie a graded series of neurodevelopmental disorders.
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Academic Article
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Undifferentiated psychosis or schizophrenia associated with vermis-predominant cerebellar hypoplasia.
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