William Dobyns to Cerebral Cortex
This is a "connection" page, showing publications William Dobyns has written about Cerebral Cortex.
Connection Strength
4.069
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Lissencephaly: Expanded imaging and clinical classification. Am J Med Genet A. 2017 Jun; 173(6):1473-1488.
Score: 0.390
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A developmental and genetic classification for malformations of cortical development: update 2012. Brain. 2012 May; 135(Pt 5):1348-69.
Score: 0.274
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Malformations of cortical development and epilepsy. Dialogues Clin Neurosci. 2008; 10(1):47-62.
Score: 0.204
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Polymicrogyria and deletion 22q11.2 syndrome: window to the etiology of a common cortical malformation. Am J Med Genet A. 2006 Nov 15; 140(22):2416-25.
Score: 0.189
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A developmental and genetic classification for malformations of cortical development. Neurology. 2005 Dec 27; 65(12):1873-87.
Score: 0.175
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X-linked lissencephaly with abnormal genitalia as a tangential migration disorder causing intractable epilepsy: proposal for a new term, "interneuronopathy". J Child Neurol. 2005 Apr; 20(4):392-7.
Score: 0.169
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Lissencephaly with cerebellar hypoplasia (LCH): a heterogeneous group of cortical malformations. Neuropediatrics. 2001 Oct; 32(5):256-63.
Score: 0.133
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LIS1: from cortical malformation to essential protein of cellular dynamics. Trends Neurosci. 2001 Sep; 24(9):489-92.
Score: 0.132
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Radiologic classification of malformations of cortical development. Curr Opin Neurol. 2001 Apr; 14(2):145-9.
Score: 0.128
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Lissencephaly and subcortical band heterotopia: molecular basis and diagnosis. Mol Med Today. 2000 Jul; 6(7):277-84.
Score: 0.122
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Pathogenic DDX3X Mutations Impair RNA Metabolism and Neurogenesis during Fetal Cortical Development. Neuron. 2020 05 06; 106(3):404-420.e8.
Score: 0.119
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X-linked malformations of cortical development. Am J Med Genet. 2000; 97(3):213-20.
Score: 0.117
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Familial lissencephaly with cleft palate and severe cerebellar hypoplasia. Am J Med Genet. 1999 Dec 22; 87(5):440-5.
Score: 0.117
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X-linked lissencephaly with absent corpus callosum and ambiguous genitalia. Am J Med Genet. 1999 Oct 08; 86(4):331-7.
Score: 0.116
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Epilepsy and malformations of the cerebral cortex. Neurologia. 1999 May; 14 Suppl 3:32-47.
Score: 0.112
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Cortical dysplasias, genetics, and epileptogenesis. Adv Neurol. 1999; 79:95-121.
Score: 0.110
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Biallelic loss of human CTNNA2, encoding aN-catenin, leads to ARP2/3 complex overactivity and disordered cortical neuronal migration. Nat Genet. 2018 08; 50(8):1093-1101.
Score: 0.106
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PARD3 dysfunction in conjunction with dynamic HIPPO signaling drives cortical enlargement with massive heterotopia. Genes Dev. 2018 06 01; 32(11-12):763-780.
Score: 0.105
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Association of MTOR Mutations With Developmental Brain Disorders, Including Megalencephaly, Focal Cortical Dysplasia, and Pigmentary Mosaicism. JAMA Neurol. 2016 07 01; 73(7):836-845.
Score: 0.092
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Malformations of cortical development: clinical features and genetic causes. Lancet Neurol. 2014 Jul; 13(7):710-26.
Score: 0.080
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RTTN mutations link primary cilia function to organization of the human cerebral cortex. Am J Hum Genet. 2012 Sep 07; 91(3):533-40.
Score: 0.071
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Polymicrogyria includes fusion of the molecular layer and decreased neuronal populations but normal cortical laminar organization. J Neuropathol Exp Neurol. 2011 Jun; 70(6):438-43.
Score: 0.065
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Mutations in WDR62, encoding a centrosome-associated protein, cause microcephaly with simplified gyri and abnormal cortical architecture. Nat Genet. 2010 Nov; 42(11):1015-20.
Score: 0.062
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Abnormal development of the human cerebral cortex: genetics, functional consequences and treatment options. Trends Neurosci. 2008 Mar; 31(3):154-62.
Score: 0.051
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Truncation of NHEJ1 in a patient with polymicrogyria. Hum Mutat. 2007 Apr; 28(4):356-64.
Score: 0.048
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Mutation and evolutionary analyses identify NR2E1-candidate-regulatory mutations in humans with severe cortical malformations. Genes Brain Behav. 2007 Aug; 6(6):503-16.
Score: 0.047
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Computed tomographic appearance of lissencephaly syndromes. AJNR Am J Neuroradiol. 1985 Jul-Aug; 6(4):545-50.
Score: 0.043
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G protein-coupled receptor-dependent development of human frontal cortex. Science. 2004 Mar 26; 303(5666):2033-6.
Score: 0.039
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Miller-Dieker syndrome: lissencephaly and monosomy 17p. J Pediatr. 1983 Apr; 102(4):552-8.
Score: 0.037
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Lissencephaly and the molecular basis of neuronal migration. Hum Mol Genet. 2003 Apr 01; 12 Spec No 1:R89-96.
Score: 0.037
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Subcortical band heterotopia (SBH) in males: clinical, imaging and genetic findings in comparison with females. Brain. 2002 Nov; 125(Pt 11):2507-22.
Score: 0.036
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A locus for bilateral perisylvian polymicrogyria maps to Xq28. Am J Hum Genet. 2002 Apr; 70(4):1003-8.
Score: 0.034
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Lissencephaly: Update on diagnostics and clinical management. Eur J Paediatr Neurol. 2021 Nov; 35:147-152.
Score: 0.033
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Mutations in the X-linked filamin 1 gene cause periventricular nodular heterotopia in males as well as in females. Hum Mol Genet. 2001 Aug 15; 10(17):1775-83.
Score: 0.033
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Bilateral polymicrogyria associated with dystonia: A new neurogenetic syndrome? Am J Med Genet A. 2020 10; 182(10):2207-2213.
Score: 0.031
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Familial perisylvian polymicrogyria: a new familial syndrome of cortical maldevelopment. Ann Neurol. 2000 Jul; 48(1):39-48.
Score: 0.030
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Genetic and neuroradiological heterogeneity of double cortex syndrome. Ann Neurol. 2000 Feb; 47(2):265-9.
Score: 0.030
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Characterization of mutations in the gene doublecortin in patients with double cortex syndrome. Ann Neurol. 1999 Feb; 45(2):146-53.
Score: 0.028
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Mutations in filamin 1 prevent migration of cerebral cortical neurons in human periventricular heterotopia. Neuron. 1998 Dec; 21(6):1315-25.
Score: 0.027
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NFIB Haploinsufficiency Is Associated with Intellectual Disability and Macrocephaly. Am J Hum Genet. 2018 11 01; 103(5):752-768.
Score: 0.027
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Microlissencephaly: a heterogeneous malformation of cortical development. Neuropediatrics. 1998 Jun; 29(3):113-9.
Score: 0.026
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Doublecortin, a brain-specific gene mutated in human X-linked lissencephaly and double cortex syndrome, encodes a putative signaling protein. Cell. 1998 Jan 09; 92(1):63-72.
Score: 0.026
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Identification of a duplication of Xq28 associated with bilateral periventricular nodular heterotopia. Am J Hum Genet. 1997 Aug; 61(2):379-87.
Score: 0.025
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Linkage and physical mapping of X-linked lissencephaly/SBH (XLIS): a gene causing neuronal migration defects in human brain. Hum Mol Genet. 1997 Apr; 6(4):555-62.
Score: 0.024
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A classification scheme for malformations of cortical development. Neuropediatrics. 1996 Apr; 27(2):59-63.
Score: 0.023
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Lissencephaly and other malformations of cortical development: 1995 update. Neuropediatrics. 1995 Jun; 26(3):132-47.
Score: 0.021
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Ultra-high-field MR imaging in polymicrogyria and epilepsy. AJNR Am J Neuroradiol. 2015 Feb; 36(2):309-16.
Score: 0.020
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Clinical manifestations and evaluation of isolated lissencephaly. Childs Nerv Syst. 1993 Nov; 9(7):387-90.
Score: 0.019
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Mutations in LAMB1 cause cobblestone brain malformation without muscular or ocular abnormalities. Am J Hum Genet. 2013 Mar 07; 92(3):468-74.
Score: 0.018
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Overlapping cortical malformations and mutations in TUBB2B and TUBA1A. Brain. 2013 Feb; 136(Pt 2):536-48.
Score: 0.018
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Recessive mutations in the gene encoding the tight junction protein occludin cause band-like calcification with simplified gyration and polymicrogyria. Am J Hum Genet. 2010 Sep 10; 87(3):354-64.
Score: 0.015
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Recessive developmental delay, small stature, microcephaly and brain calcifications with locus on chromosome 2. Am J Med Genet A. 2009 Feb; 149A(2):129-37.
Score: 0.014
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Genotypically defined lissencephalies show distinct pathologies. J Neuropathol Exp Neurol. 2005 Oct; 64(10):847-57.
Score: 0.011
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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. J Med Genet. 2003 Dec; 40(12):e128.
Score: 0.010
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Neonatal adrenoleukodystrophy: new cases, biochemical studies, and differentiation from Zellweger and related peroxisomal polydystrophy syndromes. Am J Med Genet. 1986 Apr; 23(4):869-901.
Score: 0.003