Search Results - "Cadena, Elizabeth D"

Detection of Large Structural Variants Causing Inherited Retinal Diseases by Daiger, Stephen P, Sullivan, Lori S, Bowne, Sara J, Cadena, Elizabeth D, Koboldt, Dan, Bujakowska, Kinga M, Pierce, Eric A

“…Current application of next-generation sequencing (NGS) leads to detection of the underlying disease-causing gene and mutation or mutations in from 60% to 85%…”
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Molecular Findings in Families with an Initial Diagnose of Autosomal Dominant Retinitis Pigmentosa (adRP) by Daiger, Stephen P, Bowne, Sara J, Sullivan, Lori S, Branham, Kari, Wheaton, Dianna K, Jones, Kaylie D, Avery, Cheryl E, Cadena, Elizabeth D, Heckenlively, John R, Birch, David G

“…Genetic testing of probands in families with an initial diagnosis of autosomal dominant retinitis pigmentosa (adRP) usually confirms the diagnosis, but there…”
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Identification of a Novel Gene on 10q22.1 Causing Autosomal Dominant Retinitis Pigmentosa (adRP) by Daiger, Stephen P, Sullivan, Lori S, Bowne, Sara J, Koboldt, Daniel C, Blanton, Susan H, Wheaton, Dianna K, Avery, Cheryl E, Cadena, Elizabeth D, Koenekoop, Robert K, Fulton, Robert S, Wilson, Richard K, Weinstock, George M, Lewis, Richard A, Birch, David G

“…Whole-genome linkage mapping identified a region on chromosome 10q21.3-q22.1 with a maximum LOD score of 3.0 at 0 % recombination in a six-generation family…”
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