William Dobyns to In Situ Hybridization, Fluorescence
This is a "connection" page, showing publications William Dobyns has written about In Situ Hybridization, Fluorescence.
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Cerebellar and posterior fossa malformations in patients with autism-associated chromosome 22q13 terminal deletion. Am J Med Genet A. 2013 Jan; 161A(1):131-6.
Score: 0.104
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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. 2008 Jul 01; 146A(13):1637-54.
Score: 0.076
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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: 0.028
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Phenotypic spectrum associated with CASK loss-of-function mutations. J Med Genet. 2011 Nov; 48(11):741-51.
Score: 0.024
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Unbalanced der(5)t(5;20) translocation associated with megalencephaly, perisylvian polymicrogyria, polydactyly and hydrocephalus. Am J Med Genet A. 2010 Jun; 152A(6):1488-97.
Score: 0.022
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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: 0.018
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Recurrent 16p11.2 microdeletions in autism. Hum Mol Genet. 2008 Feb 15; 17(4):628-38.
Score: 0.018
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Truncation of NHEJ1 in a patient with polymicrogyria. Hum Mutat. 2007 Apr; 28(4):356-64.
Score: 0.017
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Molecular characterisation of four cases of intrachromosomal triplication of chromosome 15q11-q14. J Med Genet. 2001 Jan; 38(1):26-34.
Score: 0.011
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Microcephaly with simplified gyral pattern in six related children. Am J Med Genet. 1999 May 21; 84(2):137-44.
Score: 0.010
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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: 0.010
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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: 0.009
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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: 0.009
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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: 0.009
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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