Complex genomic rearrangements at the PLP1 locus include triplication and quadruplication
Beck, Christine R, Carvalho, Claudia M B, Banser, Linda, Gambin, Tomasz, Stubbolo, Danielle, Yuan, Bo, Sperle, Karen, McCahan, Suzanne M, Henneke, Marco, Seeman, Pavel, Garbern, James Y, Hobson, Grace M, Lupski, James R
Published in PLoS genetics (01.03.2015)
Published in PLoS genetics (01.03.2015)
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PMD patient mutations reveal a long-distance intronic interaction that regulates PLP1/DM20 alternative splicing
Taube, Jennifer R, Sperle, Karen, Banser, Linda, Seeman, Pavel, Cavan, Barbra Charina V, Garbern, James Y, Hobson, Grace M
Published in Human molecular genetics (15.10.2014)
Published in Human molecular genetics (15.10.2014)
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Gait abnormalities and progressive myelin degeneration in a new murine model of Pelizaeus-Merzbacher disease with tandem genomic duplication
Clark, Kristi, Sakowski, Lauren, Sperle, Karen, Banser, Linda, Landel, Carlisle P, Bessert, Denise A, Skoff, Robert P, Hobson, Grace M
Published in The Journal of neuroscience (17.07.2013)
Published in The Journal of neuroscience (17.07.2013)
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Complex Genomic Rearrangements at the PLP1 Locus Include Triplication and Quadruplication: e1005050
Beck, Christine R, Carvalho, Claudia MB, Banser, Linda, Gambin, Tomasz, Stubbolo, Danielle, Yuan, Bo, Sperle, Karen, McCahan, Suzanne M, Henneke, Marco, Seeman, Pavel, Garbern, James Y, Hobson, Grace M, Lupski, James R
Published in PLoS genetics (01.03.2015)
Published in PLoS genetics (01.03.2015)
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A large X-chromosomal deletion is associated with microphthalmia with linear skin defects (MLS) and amelogenesis imperfecta (XAI)
Hobson, Grace M., Gibson, Carolyn W., Aragon, Melissa, Yuan, Zhi-an, Davis-Williams, Angelique, Banser, Linda, Kirkham, Jennifer, Brook, Alan H.
Published in American journal of medical genetics. Part A (01.08.2009)
Published in American journal of medical genetics. Part A (01.08.2009)
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