Search Results - "Ireland, Maggie"

A giant novel gene undergoing extensive alternative splicing is severed by a Cornelia de Lange-associated translocation breakpoint at 3q26.3 by TONKIN, Emma T, SMITH, Melanie, KRANTZ, Ian D, CARR, Philippa, STRACHAN, Tom, EICHHORN, Piet, JONES, Sandie, IMAMWERDI, Burhan, LINDSAY, Susan, JACKSON, Mike, WANG, Tzu-Jou, IRELAND, Maggie, BURN, John

“…Cornelia de Lange syndrome (CdLS) is a rare developmental malformation syndrome characterised by mental handicap, growth retardation, distinctive facial…”
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De Lange syndrome: subjective and objective comparison of the classical and mild phenotypes by Allanson, J E, Hennekam, R C, Ireland, M

“…Classical de Lange syndrome presents with a striking face, pronounced growth and mental retardation, and variable limb deficiencies. Over the past five years,…”
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Second-trimester pregnancy associated plasma protein-A levels are reduced in Cornelia de Lange syndrome pregnancies by Aitken, David A., Ireland, Maggie, Berry, Esther, Crossley, Jennifer A., Macri, James N., Burn, John, Connor, J. Michael

“…Maternal serum samples were collected from 19 pregnancies which resulted in the birth of a child with the classical Cornelia de Lange syndrome phenotype…”
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Large scale deletions in the GPC3 gene may account for a minority of cases of Simpson-Golabi-Behmel syndrome by Lindsay, S, Ireland, M, O'Brien, O, Clayton-Smith, J, Hurst, J A, Mann, J, Cole, T, Sampson, J, Slaney, S, Schlessinger, D, Burn, J, Pilia, G

“…AIMS OF THE STUDY: To identify the proportion and type of deletions present in the glypican 3 (GPC3) gene in a group of patients with Simpson-Golabi-Behmel…”
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Genomic organisation of the human chordin gene and mutation screening of candidate Cornelia de Lange syndrome genes by Smith, M., Herrell, S., Lusher, M., Lako, L., Simpson, C., Wiestner, A., Skoda, R., Ireland, M., Strachan, T.

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Glypican 3 and glypican 4 are juxtaposed in Xq26.1 by Huber, Reid, Mazzarella, Richard, Chen, Chun-Nan, Chen, Ellson, Ireland, Maggie, Lindsay, Susan, Pilia, Giuseppe, Crisponi, Laura

“…Recently, we have shown that mutations in the X-linked glypican 3 ( GPC3) gene cause the Simpson–Golabi–Behmel overgrowth syndrome (SGBS; Pilia et al., 1996)…”
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Radiological features in Brachmann-de Lange syndrome by Braddock, S R, Lachman, R S, Stoppenhagen, C C, Carey, J C, Ireland, M, Moeschler, J B, Cunniff, C, Graham, Jr, J M

“…Brachmann-de Lange syndrome (BDLS) is a well-delineated disorder consisting variably of pre- and postnatal growth deficiency, microbrachycephaly,…”
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