Search Results - "VOULLAIRE, L"

Chromosome abnormalities identified by comparative genomic hybridization in embryos from women with repeated implantation failure by Voullaire, L., Wilton, L., McBain, J., Callaghan, T., Williamson, R.

“…Using comparative genomic hybridization, we have detected chromosome abnormality in 76/126 (60%) single blastomeres biopsied prior to implantation from embryos…”
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Chromosome analysis of blastomeres from human embryos by using comparative genomic hybridization by VOULLAIRE, L, SLATER, H, WILLIAMSON, R, WILTON, L

“…Karyotypic studies of aborted fetuses have been used to draw the inference that the proportion of conceptuses with chromosome abnormalities is very high…”
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Site-specific, Rep-mediated integration of the intact β-globin locus in the human erythroleukaemic cell line K562 by Howden, S E, Voullaire, L, Wardan, H, Williamson, R, Vadolas, J

“…The stable, regulated and tissue-specific expression of a therapeutic transgene can be best achieved by the transfer of a complete genomic locus, which will…”
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The transient expression of mRNA coding for Rep protein from AAV facilitates targeted plasmid integration by Howden, S. E., Voullaire, L., Vadolas, J.

“…Background There is a risk of insertional mutagenesis when techniques that facilitate random integration of exogenous DNA into the human genome are used for…”
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A functional marker centromere with no detectable alpha-satellite, satellite III, or CENP-B protein : activation of a latent centromere ? by VOULLAIRE, L. E, SLATER, H. R, PETROVIC, V, ANDY CHOO, K. H

“…We report the investigation of an unusual human supernumerary marker chromosome 10 designated "mar del(10)." This marker is present together with two other…”
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Association of a chromosome deletion syndrome with a fragile site within the proto-oncogene CBL2 by Jones, C, Penny, L, Mattina, T, Yu, S, Baker, E, Voullaire, L, Langdon, W. Y, Sutherland, G. R, Richards, R. I, Tunnacliffe, A

“…The fragile site FRA11B has been localized to the p(CCG)n repeat of the CBL2 proto-oncogene. A proportion of Jacobsen (11q-) syndrome patients inherited a…”
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Fetal nucleated red blood cells from CVS washings: an aid to development of first trimester non-invasive prenatal diagnosis by Voullaire, Lucille, Ioannou, Panayiotis, Nouri, Sara, Williamson, Robert

“…Fetal nucleated red blood cells (n‐rbc) occur in the maternal circulation from 7 weeks of pregnancy. The enrichment of these cells from maternal blood will…”
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Distal 8p deletion (8p23.1----8pter): a common deletion? by Hutchinson, R, Wilson, M, Voullaire, L

“…The clinical manifestations and cytogenetic details of five patients with a de novo deletion of the short arm of chromosome 8, del(8)(p23), are described. Of…”
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Asymmetry and skin pigmentary anomalies in chromosome mosaicism by Woods, C G, Bankier, A, Curry, J, Sheffield, L J, Slaney, S F, Smith, K, Voullaire, L, Wellesley, D

“…We report six persons mosaic for a chromosome anomaly. All were mentally retarded and dysmorphic. Unilateral or asymmetrical features were found in all cases,…”
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Comparative chromosome painting between marsupial orders: relationships with a 2n = 14 ancestral marsupial karyotype by De Leo, A A, Guedelha, N, Toder, R, Voullaire, L, Ferguson-Smith, M A, O'Brien, P C, Graves, J A

“…A 2n = 14 karyotype is shared by some species in each of the marsupial orders in Australian and American superfamilies, suggesting that the ancestral marsupial…”
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Chromosomal painting detects non-random chromosome arrangement in dasyurid marsupial sperm by Greaves, I K, Svartman, M, Wakefield, M, Taggart, D, De Leo, A, Ferguson-Smith, M A, Rens, W, O'Brien, P C, Voullaire, L, Westerman, M, Graves, J A

“…Chromosome arrangements have been studied in metaphase and interphase somatic cells and in sperm of many animal species, but there are conflicting data and it…”
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Directly inherited partial trisomy of chromosome 6p identified in a father and daughter by chromosome microdissection by Delatycki, Martin B, Voullaire, Lucille, Francis, David, Petrovic, Vida, Robertson, Anne, Webber, Lorna M, Slater, Howard R

“…Cytogenetic analysis of a 4 year old girl with developmental delay and dysmorphic features showed extra chromosomal material of unknown origin on 20p…”
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Evidence that Rieger syndrome maps to 4q25 or 4q27 by Vaux, C, Sheffield, L, Keith, C G, Voullaire, L

“…We report a baby with the features of Rieger syndrome and a de novo interstitial deletion of 4q which includes band 4q26 and an adjoining GTL light band,…”
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Chromosomal duplication of band 10p14 segregating through four generations by VOULLAIRE, LUCILLE, GARDNER, R J MCKINLAY, VAUX, CATHRYN, ROBERTSON, ANNE, OERTEL, RALPH, SLATER, HOWARD

“…Microduplication and microdeletion of chromosomal material is presumed to occur as a meiotic event following uneven crossing over between short sequences of…”
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Preimplantation aneuploidy screening using comparative genomic hybridization or fluorescence in situ hybridization of embryos from patients with recurrent implantation failure by Wilton, Leeanda, Voullaire, Lucille, Sargeant, Peta, Williamson, Robert, McBain, John

“…To select chromosomally euploid embryos for transfer by analyzing single biopsied blastomeres using either fluorescence in situ hybridization (FISH) for…”
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Minute Y chromosome derived marker in a child with gonadoblastoma: cytogenetic and DNA studies by Petrovic, V, Nasioulas, S, Chow, C W, Voullaire, L, Schmidt, M, Dahl, H

“…A 12 year old girl referred for chromosome analysis because of short stature was found to have karyotype mos 45,X/46,X,+mar. The marker chromosome was observed…”
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Five cases demonstrating the distinctive behavioural features of chromosome deletion 17(p11.2 p11.2) (Smith-Magenis syndrome) by Colley, A F, Leversha, M A, Voullaire, L E, Rogers, J G

“…Children with hyperactivity and self-destructive behaviour present a difficult problem for parents and paediatricians. The syndrome described by Smith and…”
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Olfactory Receptor–Gene Clusters, Genomic-Inversion Polymorphisms, and Common Chromosome Rearrangements by Giglio, Sabrina, Broman, Karl W., Matsumoto, Naomichi, Calvari, Vladimiro, Gimelli, Giorgio, Neumann, Thomas, Ohashi, Hirofumi, Voullaire, Lucille, Larizza, Daniela, Giorda, Roberto, Weber, Jim L., Ledbetter, David H., Zuffardi, Orsetta

“…The olfactory receptor (OR)–gene superfamily is the largest in the mammalian genome. Several of the human OR genes appear in clusters with ⩾10 members located…”
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Absence of satellite III DNA in the centromere and the proximal long-arm region of human chromosome 14: analysis of a 14p- variant by Earle, E, Voullaire, L E, Hills, L, Slater, H, Choo, K H

“…Cytogenetic methods and molecular probes derived from the centromere and short arm of chromosome 14 were used to investigate the structural properties of a…”
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Complex chromosome rearrangements involving chromosomes 1;3 and 2;3 in two abnormal children by Voullaire, L E, Webb, G C

“…Complex chromosome rearrangements (CCR) involving multiple breaks in two chromosomes are rare. The detection of a four-break apparently balanced rearrangement…”
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