Search Results - "Callaway, Jonathan L A"

Perspective on the Technical Challenges Involved in the Implementation of Array-CGH in Prenatal Diagnostic Testing by Callaway, Jonathan L. A, Huang, Shuwen, Karampetsou, Evangelia, Crolla, John A

“…Our aim was to construct a streamlined technical workflow to facilitate a prospective, multi-centre evaluation of array comparative genomic hybridisation…”
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Hypomethylation of multiple imprinted loci in individuals with transient neonatal diabetes is associated with mutations in ZFP57 by Mackay, Deborah J G, Callaway, Jonathan L A, Marks, Sophie M, White, Helen E, Acerini, Carlo L, Boonen, Susanne E, Dayanikli, Pinar, Firth, Helen V, Goodship, Judith A, Haemers, Andreas P, Hahnemann, Johanne M D, Kordonouri, Olga, Masoud, Ahmed F, Oestergaard, Elsebet, Storr, John, Ellard, Sian, Hattersley, Andrew T, Robinson, David O, Temple, I Karen

“…We have previously described individuals presenting with transient neonatal diabetes and showing a variable pattern of DNA hypomethylation at imprinted loci…”
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The clinical utility of microarray technologies applied to prenatal cytogenetics in the presence of a normal conventional karyotype: a review of the literature by Callaway, Jonathan L. A., Shaffer, Lisa G., Chitty, Lyn S., Rosenfeld, Jill A., Crolla, John A.

“…ABSTRACT The clinical utility of microarray technologies when used in the context of prenatal diagnosis lies in the technology's ability to detect…”
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Methylation analysis of 79 patients with growth restriction reveals novel patterns of methylation change at imprinted loci by TURNER, Claire Louise Susan, MACKAY, Deborah M, MEHTA, Sarju G, MANSOUR, Sahar, WAKELING, Emma L, MATHEW, Verghese, MADDEN, Jackie, DAVIES, Justin H, KAREN TEMPLE, I, CALLAWAY, Jonathan La, DOCHERTY, Louise E, POOLE, Rebecca L, BULLMAN, Hilary, LEVER, Margaret, CASTLE, Bruce M, KIVUVA, Emma C, TURNPENNY, Peter D

“…This study was an investigation of 79 patients referred to the Wessex Regional Genetics Laboratory with suspected Russell-Silver Syndrome or unexplained short…”
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Detection of Partial Deletions of Y-chromosome AZFc in Infertile Men Using the Multiplex Ligation-dependent Probe Amplification Assay by Bunyan, David J, Callaway, Jonathan L A, Laddach, Nadja

“…In recent studies, partial deletions of the azoospermia factor c region (AZFc) on the Y-chromosome have been detected in males with infertility problems…”
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Apparent Homozygosity for a gr/gr AZFc Deletion in A 47,XYY Man with Oligozoospermia and Secondary Infertility by J. Bunyan, David J. Bunyan, Saran, Mili, I Hobbs, James, J Anderson, David, J. Duncan-Flavell, Philippa, J Howarth, Rachel, L.A. Callaway, Jonathan, N MacPherson, James

“…Background: Approximately 1 in 1000 men have a 47,XYY karyotype. Previous publications have presented cases of infertile XYY men and have suggested that the…”
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