William Dobyns to Congenital Abnormalities
This is a "connection" page, showing publications William Dobyns has written about Congenital Abnormalities.
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Recurrent constellations of embryonic malformations re-conceptualized as an overlapping group of disorders with shared pathogenesis. Am J Med Genet A. 2020 11; 182(11):2646-2661.
Score: 0.187
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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: 0.056
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Cortical dysplasias, genetics, and epileptogenesis. Adv Neurol. 1999; 79:95-121.
Score: 0.042
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A classification scheme for malformations of cortical development. Neuropediatrics. 1996 Apr; 27(2):59-63.
Score: 0.034
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Lissencephaly. A human brain malformation associated with deletion of the LIS1 gene located at chromosome 17p13. JAMA. 1993 Dec 15; 270(23):2838-42.
Score: 0.029
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Causal heterogeneity in isolated lissencephaly. Neurology. 1992 Jul; 42(7):1375-88.
Score: 0.027
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Isolated lissencephaly: report of four patients from two unrelated families. J Child Neurol. 1990 Jan; 5(1):52-9.
Score: 0.022
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FOXC1 is required for normal cerebellar development and is a major contributor to chromosome 6p25.3 Dandy-Walker malformation. Nat Genet. 2009 Sep; 41(9):1037-42.
Score: 0.022
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Cobblestone-like brain dysgenesis and altered glycosylation in congenital cutis laxa, Debre type. Neurology. 2008 Nov 11; 71(20):1602-8.
Score: 0.020
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Genotypically defined lissencephalies show distinct pathologies. J Neuropathol Exp Neurol. 2005 Oct; 64(10):847-57.
Score: 0.017
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Isolation of a Miller-Dieker lissencephaly gene containing G protein beta-subunit-like repeats. Nature. 1993 Aug 19; 364(6439):717-21.
Score: 0.007