William Dobyns to Dandy-Walker Syndrome
This is a "connection" page, showing publications William Dobyns has written about Dandy-Walker Syndrome.
Connection Strength
2.598
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Undifferentiated psychosis or schizophrenia associated with vermis-predominant cerebellar hypoplasia. Am J Med Genet A. 2024 Mar; 194(3):e63416.
Score: 0.953
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Dandy-Walker Phenotype with Brainstem Involvement: 2 Distinct Subgroups with Different Prognosis. AJNR Am J Neuroradiol. 2023 10; 44(10):1201-1207.
Score: 0.235
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Refining the Neuroimaging Definition of the Dandy-Walker Phenotype. AJNR Am J Neuroradiol. 2022 10; 43(10):1488-1493.
Score: 0.220
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Phenotypic outcomes in Mouse and Human Foxc1 dependent Dandy-Walker cerebellar malformation suggest shared mechanisms. Elife. 2017 01 16; 6.
Score: 0.149
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A novel rasopathy caused by recurrent de novo missense mutations in PPP1CB closely resembles Noonan syndrome with loose anagen hair. Am J Med Genet A. 2016 09; 170(9):2237-47.
Score: 0.142
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Agenesis of the corpus callosum and Dandy-Walker malformation associated with hemimegalencephaly in the sebaceous nevus syndrome. Am J Med Genet. 1995 Mar 27; 56(2):147-50.
Score: 0.131
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AP1S2 is mutated in X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizures (Pettigrew syndrome). Eur J Hum Genet. 2014 Mar; 22(3):363-8.
Score: 0.116
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Mutations in extracellular matrix genes NID1 and LAMC1 cause autosomal dominant Dandy-Walker malformation and occipital cephaloceles. Hum Mutat. 2013 Aug; 34(8):1075-9.
Score: 0.115
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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: 0.089
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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: 0.083
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Linkage to chromosome 2q36.1 in autosomal dominant Dandy-Walker malformation with occipital cephalocele and evidence for genetic heterogeneity. Hum Genet. 2008 Apr; 123(3):237-45.
Score: 0.080
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Heterozygous deletion of the linked genes ZIC1 and ZIC4 is involved in Dandy-Walker malformation. Nat Genet. 2004 Oct; 36(10):1053-5.
Score: 0.063
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Human malformations of the midbrain and hindbrain: review and proposed classification scheme. Mol Genet Metab. 2003 Sep-Oct; 80(1-2):36-53.
Score: 0.059
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Clinical and genetic distinction between Walker-Warburg syndrome and muscle-eye-brain disease. Neurology. 2001 Apr 24; 56(8):1059-69.
Score: 0.050
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Spatiotemporal expansion of primary progenitor zones in the developing human cerebellum. Science. 2019 10 25; 366(6464):454-460.
Score: 0.045
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Cobblestone lissencephaly with normal eyes and muscle. Neuropediatrics. 1996 Apr; 27(2):70-5.
Score: 0.035
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Lissencephaly and other malformations of cortical development: 1995 update. Neuropediatrics. 1995 Jun; 26(3):132-47.
Score: 0.033