User profiles for "author:William B Dobyns"

William B. Dobyns

Professor of Pediatrics
Verified email at umn.edu
Cited by 56161

A developmental and genetic classification for malformations of cortical development: update 2012

AJ Barkovich, R Guerrini, RI Kuzniecky, GD Jackson… - Brain, 2012 - academic.oup.com
Malformations of cerebral cortical development include a wide range of developmental
disorders that are common causes of neurodevelopmental delay and epilepsy. In addition …

Characterizing the pattern of anomalies in congenital Zika syndrome for pediatric clinicians

CA Moore, JE Staples, WB Dobyns, A Pessoa… - JAMA …, 2017 - jamanetwork.com
Importance Zika virus infection can be prenatally passed from a pregnant woman to her
fetus. There is sufficient evidence to conclude that intrauterine Zika virus infection is a cause …

A classification scheme for malformations of cortical development

AJ Barkovich, RI Kuzniecky, WB Dobyns… - …, 1996 - thieme-connect.com
Malformations of the cerebral cortex are being recognized more frequently as a cause of
epilepsy, developmental delay, neurological deficits, and mental retardation. Nonetheless, a …

Autosomal dominant cerebellar ataxia (SCA6) associated with small polyglutamine expansions in the α1A-voltage-dependent calcium channel

O Zhuchenko, J Bailey, P Bonnen, T Ashizawa… - Nature …, 1997 - nature.com
A polymorphic CAG repeat was identified in the human α1A voltage-dependent calcium
channel subunit. To test the hypothesis that expansion of this CAG repeat could be the …

[PDF][PDF] Mutations in filamin 1 prevent migration of cerebral cortical neurons in human periventricular heterotopia

JW Fox, ED Lamperti, YZ Ekşioğlu, SE Hong, Y Feng… - Neuron, 1998 - cell.com
Long-range, directed migration is particularly dramatic in the cerebral cortex, where
postmitotic neurons generated deep in the brain migrate to form layers with distinct form and …

Isolation of a Miller–Dicker lissencephaly gene containing G protein β-subunit-like repeats

O Reiner, R Carrozzo, Y Shen, M Wehnert… - Nature, 1993 - nature.com
LISSENCEPHALY (agyria-pachygyria) is a human brain malformation manifested by a
smooth cerebral surface and abnormal neuronal migration1, 2. Identification of the gene (s) …

[HTML][HTML] Doublecortin, a brain-specific gene mutated in human X-linked lissencephaly and double cortex syndrome, encodes a putative signaling protein

JG Gleeson, KM Allen, JW Fox, ED Lamperti… - Cell, 1998 - cell.com
X-linked lissencephaly and" double cortex" are allelic human disorders mapping to Xq22. 3-
Xq23 associated with arrest of migrating cerebral cortical neurons. We identified a novel 10 …

[PDF][PDF] Mutations in the O-mannosyltransferase gene POMT1 give rise to the severe neuronal migration disorder Walker-Warburg syndrome

DBV de Bernabé, S Currier, A Steinbrecher… - The American Journal of …, 2002 - cell.com
Walker-Warburg syndrome (WWS) is an autosomal recessive developmental disorder
characterized by congenital muscular dystrophy and complex brain and eye abnormalities …

De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes

JB Rivière, GM Mirzaa, BJ O'Roak, M Beddaoui… - Nature …, 2012 - nature.com
Megalencephaly-capillary malformation (MCAP) and megalencephaly-polymicrogyria-
polydactyly-hydrocephalus (MPPH) syndromes are sporadic overgrowth disorders …

Recurrent 16p11. 2 microdeletions in autism

RA Kumar, S KaraMohamed, J Sudi… - Human molecular …, 2008 - academic.oup.com
Autism is a childhood neurodevelopmental disorder with a strong genetic component, yet
the identification of autism susceptibility loci remains elusive. We investigated 180 autism …