Search Results - "Lindley, Victoria"

Application of multiplex ligation-dependent probe analysis to define a small deletion encompassing PMP22 exons 4 and 5 in hereditary neuropathy with liability to pressure palsies by Sutton, Ian J, Mocroft, A Paul, Lindley, Victoria H, Barber, Richard M, Bryon, R Jane, Winer, John B, MacDonald, Fiona

“…Hereditary neuropathy with liability to pressure palsies arises as a result of defects at the chromosome 17p11.2-12 locus and in 84% of cases a 1.5 Mb deletion…”
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Mutations in BMP4 Cause Eye, Brain, and Digit Developmental Anomalies: Overlap between the BMP4 and Hedgehog Signaling Pathways by Bakrania, Preeti, Efthymiou, Maria, Klein, Johannes C., Salt, Alison, Bunyan, David J., Wyatt, Alex, Ponting, Chris P., Martin, Angela, Williams, Steven, Lindley, Victoria, Gilmore, Joanne, Restori, Marie, Robson, Anthony G., Neveu, Magella M., Holder, Graham E., Collin, J Richard O., Robinson, David O., Farndon, Peter, Johansen-Berg, Heidi, Gerrelli, Dianne, Ragge, Nicola K.

“…Developmental ocular malformations, including anophthalmia-microphthalmia (AM), are heterogeneous disorders with frequent sporadic or non-Mendelian…”
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Mutations in BMP4 Cause Eye, Brain, and Digit Developmental Anomalies: Overlap between the BMP4 and Hedgehog Signaling Pathways by Bakrania, Preeti, Efthymiou, Maria, Klein, Johannes C, Salt, Alison, Bunyan, David J, Wyatt, Alex, Ponting, Chris P, Martin, Angela, Williams, Steven, Lindley, Victoria, Gilmore, Joanne, Restori, Marie, Robson, Anthony G, Neveu, Magella M, Holder, Graham E, Collin, J Richard O, Robinson, David O, Farndon, Peter, Johansen-Berg, Heidi, Gerrelli, Dianne, Ragge, Nicola K

“…Developmental ocular malformations, including anophthalmiamicrophthalmia (AM), are heterogeneous disorders with frequent sporadic or non-Mendelian inheritance…”
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Cystic fibrosis mutation analysis: report from 22 U.K. regional genetics laboratories by Schwarz, M J, Malone, G M, Haworth, A, Cheadle, J P, Meredith, A L, Gardner, A, Sawyer, I H, Connarty, M, Dennis, N, Seller, A

“…We have collated the results of cystic fibrosis (CF) mutation analysis conducted in 22 laboratories in the United Kingdom. A total of 9,807 CF chromosomes have…”
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