William Dobyns to Microtubule-Associated Proteins
This is a "connection" page, showing publications William Dobyns has written about Microtubule-Associated Proteins.
Connection Strength
3.312
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The duplication 17p13.3 phenotype: analysis of 21 families delineates developmental, behavioral and brain abnormalities, and rare variant phenotypes. Am J Med Genet A. 2013 Aug; 161A(8):1833-52.
Score: 0.423
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Deletion 16p13.11 uncovers NDE1 mutations on the non-deleted homolog and extends the spectrum of severe microcephaly to include fetal brain disruption. Am J Med Genet A. 2013 Jul; 161A(7):1523-30.
Score: 0.420
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Males with epilepsy, complete subcortical band heterotopia, and somatic mosaicism for DCX. Neurology. 2002 May 28; 58(10):1559-62.
Score: 0.196
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LIS1: from cortical malformation to essential protein of cellular dynamics. Trends Neurosci. 2001 Sep; 24(9):489-92.
Score: 0.186
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LIS1 missense mutations cause milder lissencephaly phenotypes including a child with normal IQ. Neurology. 2001 Aug 14; 57(3):416-22.
Score: 0.186
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Mutation analysis of the DCX gene and genotype/phenotype correlation in subcortical band heterotopia. Eur J Hum Genet. 2001 Jan; 9(1):5-12.
Score: 0.178
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Mutations in MAST1 Cause Mega-Corpus-Callosum Syndrome with Cerebellar Hypoplasia and Cortical Malformations. Neuron. 2018 12 19; 100(6):1354-1368.e5.
Score: 0.154
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De novo and inherited private variants in MAP1B in periventricular nodular heterotopia. PLoS Genet. 2018 05; 14(5):e1007281.
Score: 0.148
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Lissencephaly: Expanded imaging and clinical classification. Am J Med Genet A. 2017 Jun; 173(6):1473-1488.
Score: 0.138
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Recurrent de novo BICD2 mutation associated with arthrogryposis multiplex congenita and bilateral perisylvian polymicrogyria. Neuromuscul Disord. 2016 11; 26(11):744-748.
Score: 0.132
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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. J Child Neurol. 2010 Jun; 25(6):738-41.
Score: 0.082
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Intragenic deletions and duplications of the LIS1 and DCX genes: a major disease-causing mechanism in lissencephaly and subcortical band heterotopia. Eur J Hum Genet. 2009 Jul; 17(7):911-8.
Score: 0.077
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Mosaic mutations of the LIS1 gene cause subcortical band heterotopia. Neurology. 2003 Oct 28; 61(8):1042-6.
Score: 0.054
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Nonsyndromic mental retardation and cryptogenic epilepsy in women with doublecortin gene mutations. Ann Neurol. 2003 Jul; 54(1):30-7.
Score: 0.053
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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: 0.052
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Refinement of a 400-kb critical region allows genotypic differentiation between isolated lissencephaly, Miller-Dieker syndrome, and other phenotypes secondary to deletions of 17p13.3. Am J Hum Genet. 2003 Apr; 72(4):918-30.
Score: 0.052
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Bi-allelic CAMSAP1 variants cause a clinically recognizable neuronal migration disorder. Am J Hum Genet. 2022 11 03; 109(11):2068-2079.
Score: 0.050
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Clinical and molecular basis of classical lissencephaly: Mutations in the LIS1 gene (PAFAH1B1). Hum Mutat. 2002 Jan; 19(1):4-15.
Score: 0.048
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Lissencephaly with cerebellar hypoplasia (LCH): a heterogeneous group of cortical malformations. Neuropediatrics. 2001 Oct; 32(5):256-63.
Score: 0.047
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Incomplete penetrance with normal MRI in a woman with germline mutation of the DCX gene. Neurology. 2001 Jul 24; 57(2):327-30.
Score: 0.046
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Missense variants in DPYSL5 cause a neurodevelopmental disorder with corpus callosum agenesis and cerebellar abnormalities. Am J Hum Genet. 2021 05 06; 108(5):951-961.
Score: 0.045
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The location and type of mutation predict malformation severity in isolated lissencephaly caused by abnormalities within the LIS1 gene. Hum Mol Genet. 2000 Dec 12; 9(20):3019-28.
Score: 0.044
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Somatic and germline mosaic mutations in the doublecortin gene are associated with variable phenotypes. Am J Hum Genet. 2000 Sep; 67(3):574-81.
Score: 0.043
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Lissencephaly and subcortical band heterotopia: molecular basis and diagnosis. Mol Med Today. 2000 Jul; 6(7):277-84.
Score: 0.043
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Lissencephaly associated mutations suggest a requirement for the PAFAH1B heterotrimeric complex in brain development. Mech Dev. 2000 Apr; 92(2):263-71.
Score: 0.042
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Genetic and neuroradiological heterogeneity of double cortex syndrome. Ann Neurol. 2000 Feb; 47(2):265-9.
Score: 0.042
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Subcortical band heterotopia in rare affected males can be caused by missense mutations in DCX (XLIS) or LIS1. Hum Mol Genet. 1999 Sep; 8(9):1757-60.
Score: 0.041
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LIS1 and XLIS (DCX) mutations cause most classical lissencephaly, but different patterns of malformation. Hum Mol Genet. 1998 Dec; 7(13):2029-37.
Score: 0.039
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Fluorescence in situ hybridization analysis with LIS1 specific probes reveals a high deletion mutation rate in isolated lissencephaly sequence. Genet Med. 1998 Nov-Dec; 1(1):29-33.
Score: 0.038
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Human doublecortin (DCX) and the homologous gene in mouse encode a putative Ca2+-dependent signaling protein which is mutated in human X-linked neuronal migration defects. Hum Mol Genet. 1998 Aug; 7(8):1327-32.
Score: 0.038
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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: 0.036
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A revision of the lissencephaly and Miller-Dieker syndrome critical regions in chromosome 17p13.3. Hum Mol Genet. 1997 Feb; 6(2):147-55.
Score: 0.034
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Point mutations and an intragenic deletion in LIS1, the lissencephaly causative gene in isolated lissencephaly sequence and Miller-Dieker syndrome. Hum Mol Genet. 1997 Feb; 6(2):157-64.
Score: 0.034
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Mutations in KATNB1 cause complex cerebral malformations by disrupting asymmetrically dividing neural progenitors. Neuron. 2014 Dec 17; 84(6):1226-39.
Score: 0.029
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Genotypically defined lissencephalies show distinct pathologies. J Neuropathol Exp Neurol. 2005 Oct; 64(10):847-57.
Score: 0.015
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14-3-3epsilon is important for neuronal migration by binding to NUDEL: a molecular explanation for Miller-Dieker syndrome. Nat Genet. 2003 Jul; 34(3):274-85.
Score: 0.013
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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: 0.013