Agency
National Institute of Health (NIH)
Institute
National Institute of Neurological Disorders and Stroke (NINDS)
Type
Research Program Projects (P01)
Project #
1P01NS039404-01
Application #
6210948
Study Section
Special Emphasis Panel (ZNS1-SRB-W (01))
Project Start
1999-04-05
Project End
2004-03-31
Budget Start
Budget End
Support Year
1
Fiscal Year
1999
Total Cost
Indirect Cost
Name
University of Chicago
Department
Type
DUNS #
225410919
City
Chicago
State
IL
Country
United States
Zip Code
60637
Di Donato, Nataliya; Timms, Andrew E; Aldinger, Kimberly A et al. (2018) Analysis of 17 genes detects mutations in 81% of 811 patients with lissencephaly. Genet Med 20:1354-1364
Brock, Stefanie; Stouffs, Katrien; Scalais, Emmanuel et al. (2018) Tubulinopathies continued: refining the phenotypic spectrum associated with variants in TUBG1. Eur J Hum Genet 26:1132-1142
Di Donato, Nataliya; Chiari, Sara; Mirzaa, Ghayda M et al. (2017) Lissencephaly: Expanded imaging and clinical classification. Am J Med Genet A 173:1473-1488
Di Donato, Nataliya; Kuechler, Alma; Vergano, Samantha et al. (2016) Update on the ACTG1-associated Baraitser-Winter cerebrofrontofacial syndrome. Am J Med Genet A 170:2644-51
Parrini, Elena; Conti, Valerio; Dobyns, William B et al. (2016) Genetic Basis of Brain Malformations. Mol Syndromol 7:220-233
Labelle-Dumais, Cassandre; Dilworth, David J; Harrington, Emily P et al. (2011) COL4A1 mutations cause ocular dysgenesis, neuronal localization defects, and myopathy in mice and Walker-Warburg syndrome in humans. PLoS Genet 7:e1002062
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Nicholas, Adeline K; Khurshid, Maryam; Désir, Julie et al. (2010) WDR62 is associated with the spindle pole and is mutated in human microcephaly. Nat Genet 42:1010-4
Haverfield, Eden V; Whited, Amanda J; Petras, Kristin S et al. (2009) 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 17:911-8
Dobyns, William B; Mirzaa, Ghayda; Christian, Susan L et al. (2008) Consistent chromosome abnormalities identify novel polymicrogyria loci in 1p36.3, 2p16.1-p23.1, 4q21.21-q22.1, 6q26-q27, and 21q2. Am J Med Genet A 146A:1637-54

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