Connection | Profiles RNS

Search Result Details

Back to Search Results

This page shows the details of why an item matched the keywords from your search.

Search Results

Dobyns, William

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

Item Type	Name
Academic Article	Unbalanced der(5)t(5;20) translocation associated with megalencephaly, perisylvian polymicrogyria, polydactyly and hydrocephalus.
Academic Article	Band-like intracranial calcification with simplified gyration and polymicrogyria: a distinct "pseudo-TORCH" phenotype.
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	Polymicrogyria and deletion 22q11.2 syndrome: window to the etiology of a common cortical malformation.
Academic Article	Truncation of NHEJ1 in a patient with polymicrogyria.
Academic Article	Megalencephaly and perisylvian polymicrogyria with postaxial polydactyly and hydrocephalus: a rare brain malformation syndrome associated with mental retardation and seizures.
Academic Article	Ultra-high-field MR imaging in polymicrogyria and epilepsy.
Academic Article	Bilateral frontal polymicrogyria: a newly recognized brain malformation syndrome.
Academic Article	Significant overlap and possible identity of macrocephaly capillary malformation and megalencephaly polymicrogyria-polydactyly hydrocephalus syndromes.
Academic Article	Periventricular nodular heterotopia with overlying polymicrogyria.
Academic Article	Diffuse polymicrogyria associated with an unusual pattern of multiple congenital anomalies including turribrachycephaly and hypogenitalism.
Academic Article	Diffuse polymicrogyria associated with congenital hydrocephalus, craniosynostosis, severe mental retardation, and minor facial and genital anomalies.
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	Polymicrogyria and motor neuropathy in Micro syndrome.
Academic Article	Megalencephaly and perisylvian polymicrogyria with postaxial polydactyly and hydrocephalus (MPPH): report of a new case.
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	Polymicrogyria includes fusion of the molecular layer and decreased neuronal populations but normal cortical laminar organization.
Academic Article	Consistent chromosome abnormalities identify novel polymicrogyria loci in 1p36.3, 2p16.1-p23.1, 4q21.21-q22.1, 6q26-q27, and 21q2.
Academic Article	New syndrome: focal dermal hypoplasia, morning glory anomaly, and polymicrogyria.
Academic Article	De novo CCND2 mutations leading to stabilization of cyclin D2 cause megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome.
Academic Article	A locus for bilateral perisylvian polymicrogyria maps to Xq28.
Academic Article	Familial perisylvian polymicrogyria: a new familial syndrome of cortical maldevelopment.
Academic Article	Bilateral frontoparietal polymicrogyria: clinical and radiological features in 10 families with linkage to chromosome 16.
Academic Article	Genotype-phenotype analysis of human frontoparietal polymicrogyria syndromes.
Academic Article	Clinical and imaging heterogeneity of polymicrogyria: a study of 328 patients.
Academic Article	Characterisation of mutations of the phosphoinositide-3-kinase regulatory subunit, PIK3R2, in perisylvian polymicrogyria: a next-generation sequencing study.
Academic Article	Recurrent de novo BICD2 mutation associated with arthrogryposis multiplex congenita and bilateral perisylvian polymicrogyria.
Academic Article	De novo mutations in GRIN1 cause extensive bilateral polymicrogyria.
Academic Article	Heterogeneous clinical phenotypes and cerebral malformations reflected by rotatin cellular dynamics.
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	Defining the phenotypical spectrum associated with variants in TUBB2A.
Academic Article	Bilateral polymicrogyria associated with dystonia: A new neurogenetic syndrome?
Academic Article	ATP1A2- and ATP1A3-associated early profound epileptic encephalopathy and polymicrogyria.
Academic Article	Proximal variants in CCND2 associated with microcephaly, short stature, and developmental delay: A case series and review of inverse brain growth phenotypes.
Academic Article	The Names of Things: The 2018 Bernard Sachs Lecture.
Concept	Polymicrogyria

Search Criteria

Polymicrogyria