Search Results - "Fiegler, H."

Microarray based comparative genomic hybridisation (array-CGH) detects submicroscopic chromosomal deletions and duplications in patients with learning disability/mental retardation and dysmorphic features by Shaw-Smith, C, Redon, R, Rickman, L, Rio, M, Willatt, L, Fiegler, H, Firth, H, Sanlaville, D, Winter, R, Colleaux, L, Bobrow, M, Carter, N P

“…The underlying causes of learning disability and dysmorphic features in many patients remain unidentified despite extensive investigation. Routine karyotype…”
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Array-CGH detection of micro rearrangements in mentally retarded individuals: clinical significance of imbalances present both in affected children and normal parents by Rosenberg, C, Knijnenburg, J, Bakker, E, Vianna-Morgante, A M, Sloos, W, Otto, P A, Kriek, M, Hansson, K, Krepischi-Santos, A C V, Fiegler, H, Carter, N P, Bijlsma, E K, van Haeringen, A, Szuhai, K, Tanke, H J

“…Background: The underlying causes of mental retardation remain unknown in about half the cases. Recent array-CGH studies demonstrated cryptic imbalances in…”
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Prenatal detection of unbalanced chromosomal rearrangements by array CGH by Rickman, L, Fiegler, H, Shaw-Smith, C, Nash, R, Cirigliano, V, Voglino, G, Ng, B L, Scott, C, Whittaker, J, Adinolfi, M, Carter, N P, Bobrow, M

“…Background: Karyotype analysis has been the standard method for prenatal cytogenetic diagnosis since the 1970s. Although highly reliable, the major limitation…”
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The complex nature of constitutional de novo apparently balanced translocations in patients presenting with abnormal phenotypes by Gribble, S M, Prigmore, E, Burford, D C, Porter, K M, Ng, Bee Ling, Douglas, E J, Fiegler, H, Carr, P, Kalaitzopoulos, D, Clegg, S, Sandstrom, R, Temple, I K, Youings, S A, Thomas, N S, Dennis, N R, Jacobs, P A, Crolla, J A, Carter, N P

“…Objective: To describe the systematic analysis of constitutional de novo apparently balanced translocations in patients presenting with abnormal phenotypes,…”
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A comprehensive study of chromosome 16q in invasive ductal and lobular breast carcinoma using array CGH by ROYLANCE, R, GORMAN, P, CARTER, N, GILLETT, C, SASIENI, P, PINDER, S, HANBY, A, TOMLINSON, I, PAPIOR, T, WAN, Y.-L, IVES, M, WATSON, J. E, COLLINS, C, WORTHAM, N, LANGFORD, C, FIEGLER, H

“…We analysed chromosome 16q in 106 breast cancers using tiling-path array-comparative genomic hybridization (aCGH). About 80% of ductal cancers (IDCs) and all…”
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Small regions of overlapping deletions on 6q26 in human astrocytic tumours identified using chromosome 6 tile path array-CGH by ICHIMURA, K, MUNGALL, A. J, FIEGLER, H, PEARSON, D. M, DUNHAM, I, CARTER, N. P, COLLINS, V. Peter

“…Deletions of chromosome 6 are a common abnormality in diverse human malignancies including astrocytic tumours, suggesting the presence of tumour suppressor…”
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Multiple sub-microscopic genomic lesions are a universal feature of chronic myeloid leukaemia at diagnosis by Khorashad, J S, De Melo, V A, Fiegler, H, Gerrard, G, Marin, D, Apperley, J F, Goldman, J M, Foroni, L, Reid, A G

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Array painting: a method for the rapid analysis of aberrant chromosomes using DNA microarrays by Fiegler, H, Gribble, S M, Burford, D C, Carr, P, Prigmore, E, Porter, K M, Clegg, S, Crolla, J A, Dennis, N R, Jacobs, P, Carter, N P

“…Objective: The authors describe a method, termed array painting, which allows the rapid, high resolution analysis of the content and breakpoints of aberrant…”
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Prenatal Diagnosis by Array-CGH by Rickman, L., Fiegler, H., Carter, N.P., Bobrow, M.

“…Microscopic karyotype analysis of cultured cells has been regarded as the gold standard for prenatal diagnosis for over 30 years. Since the first application…”
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Tiling path resolution mapping of constitutional 1p36 deletions by array-CGH: contiguous gene deletion or “deletion with positional effect” syndrome? by Redon, R, Rio, M, Gregory, S G, Cooper, R A, Fiegler, H, Sanlaville, D, Banerjee, R, Scott, C, Carr, P, Langford, C, Cormier-Daire, V, Munnich, A, Carter, N P, Colleaux, L

“…Detailed molecular characterisation of patients with 1p36 constitutional deletions showed variability in the parental origin, deletion size, and complexity of…”
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A canine cancer-gene microarray for CGH analysis of tumors by Thomas, R, Fiegler, H, Ostrander, E A, Galibert, F, Carter, N P, Breen, M

“…As with many human cancers, canine tumors demonstrate recurrent chromosome aberrations. A detailed knowledge of such aberrations may facilitate diagnosis,…”
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Tetrasomy 21pter→q21.2 in a male infant without typical Down’s syndrome dysmorphic features but moderate mental retardation by Rost, I, Fiegler, H, Fauth, C, Carr, P, Bettecken, T, Kraus, J, Meyer, C, Enders, A, Wirtz, A, Meitinger, T, Carter, N P, Speicher, M R

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Applications of combined DNA microarray and chromosome sorting technologies by Gribble, S M, Fiegler, H, Burford, D C, Prigmore, E, Yang, F, Carr, P, Ng, B L, Sun, T, Kamberov, E S, Makarov, V L, Langmore, J P, Carter, N P

“…The sequencing of the human genome has led to the availability of an extensive mapped clone resource that is ideal for the construction of DNA microarrays…”
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Identification of the serine acetyltransferase gene of Staphylococcus xylosus by Fiegler, Heike, Brückner, Reinhold

“…A transposon Tn 917-induced mutant strain of Staphylococcus xylosus was isolated that required exogenous cysteine for growth. The transposon was found to…”
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Chromatin Architecture of the Human Genome: Gene-Rich Domains Are Enriched in Open Chromatin Fibers by Gilbert, Nick, Boyle, Shelagh, Fiegler, Heike, Woodfine, Kathryn, Carter, Nigel P., Bickmore, Wendy A.

“…We present an analysis of chromatin fiber structure across the human genome. Compact and open chromatin fiber structures were separated by sucrose…”
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A DNA damage checkpoint response in telomere-initiated senescence by Fagagna, Fabrizio d'Adda di, Jackson, Stephen P, Reaper, Philip M, Clay-Farrace, Lorena, Fiegler, Heike, Carr, Philippa, von Zglinicki, Thomas, Saretzki, Gabriele, Carter, Nigel P

“…Most human somatic cells can undergo only a limited number of population doublings in vitro. This exhaustion of proliferative potential, called senescence, can…”
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Sites of Differential DNA Methylation between Placenta and Peripheral Blood: Molecular Markers for Noninvasive Prenatal Diagnosis of Aneuploidies by Papageorgiou, Elisavet A, Fiegler, Heike, Rakyan, Vardhman, Beck, Stephan, Hulten, Maj, Lamnissou, Klea, Carter, Nigel P, Patsalis, Philippos C

“…The use of epigenetic differences between maternal whole blood and fetal (placental) DNA is one of the main areas of interest for the development of…”
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DNA microarrays for comparative genomic hybridization based on DOP-PCR amplification of BAC and PAC clones by Fiegler, Heike, Carr, Philippa, Douglas, Eleanor J., Burford, Deborah C., Hunt, Sarah, Smith, James, Vetrie, David, Gorman, Patricia, Tomlinson, Ian P.M., Carter, Nigel P.

“…We have designed DOP‐PCR primers specifically for the amplification of large insert clones for use in the construction of DNA microarrays. A bioinformatic…”
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Replication timing of the human genome by Woodfine, Kathryn, Fiegler, Heike, Beare, David M., Collins, John E., McCann, Owen T., Young, Bryan D., Debernardi, Silvana, Mott, Richard, Dunham, Ian, Carter, Nigel P.

“…We have developed a directly quantitative method utilizing genomic clone DNA microarrays to assess the replication timing of sequences during the S phase of…”
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Guidelines for molecular karyotyping in constitutional genetic diagnosis by VERMEESCH, Joris Robert, FIEGLER, Heike, SANLAVILLE, Damien, PATSALIS, Philippos C, FIRTH, Helen, DEVRIENDT, Koen, ZUFFARDI, Orsetta, DE LEEUW, Nicole, SZUHAI, Karoly, SCHOUMANS, Jacqueline, CICCONE, Roberto, SPELEMAN, Frank, RAUCH, Anita, CLAYTON-SMITH, Jill, VAN RAVENSWAAIJ, Conny

“…Array-based whole genome investigation or molecular karyotyping enables the genome-wide detection of submicroscopic imbalances. Proof-of-principle experiments…”
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