Search Results - "Carter, N. P."

Array-based comparative genomic hybridisation identifies high frequency of cryptic chromosomal rearrangements in patients with syndromic autism spectrum disorders by Jacquemont, M-L, Sanlaville, D, Redon, R, Raoul, O, Cormier-Daire, V, Lyonnet, S, Amiel, J, Le Merrer, M, Heron, D, de Blois, M-C, Prieur, M, Vekemans, M, Carter, N P, Munnich, A, Colleaux, L, Philippe, A

“…Background: Autism spectrum disorders (ASD) refer to a broader group of neurobiological conditions, pervasive developmental disorders. They are characterised…”
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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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Array painting reveals a high frequency of balanced translocations in breast cancer cell lines that break in cancer-relevant genes by Howarth, K D, Blood, K A, Ng, B L, Beavis, J C, Chua, Y, Cooke, S L, Raby, S, Ichimura, K, Collins, V P, Carter, N P, Edwards, P A W

“…Chromosome translocations in the common epithelial cancers are abundant, yet little is known about them. They have been thought to be almost all unbalanced and…”
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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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Integration of cytogenetic landmarks into the draft sequence of the human genome by Trask, B. J, BAC Resource Consortium, The, Cheung, V. G, Nowak, N, Jang, W, Kirsch, I. R, Zhao, S, Chen, X.-N, Furey, T. S, Kim, U.-J, Kuo, W.-L, Olivier, M, Conroy, J, Kasprzyk, A, Massa, H, Yonescu, R, Sait, S, Thoreen, C, Snijders, A, Lemyre, E, Bailey, J. A, Bruzel, A, Burrill, W. D, Clegg, S. M, Collins, S, Dhami, P, Friedman, C, Han, C. S, Herrick, S, Lee, J, Ligon, A. H, Lowry, S, Morley, M, Narasimhan, S, Osoegawa, K, Peng, Z, Plajzer-Frick, I, Quade, B. J, Scott, D, Sirotkin, K, Thorpe, A. A, Gray, J. W, Hudson, J, Pinkel, D, Ried, T, Rowen, L, Shen-Ong, G. L, Strausberg, R. L, Birney, E, Callen, D. F, Cheng, J.-F, Cox, D. R, Doggett, N. A, Carter, N. P, Eichler, E. E, Haussler, D, Korenberg, J. R, Morton, C. C, Albertson, D, Schuler, G, de Jong, P. J

“…We have placed 7,600 cytogenetically defined landmarks on the draft sequence of the human genome to help with the characterization of genes altered by gross…”
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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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An SNP map of human chromosome 22 by Bentley, D. R, Mullikin, J. C, Hunt, S. E, Cole, C. G, Mortimore, B. J, Rice, C. M, Burton, J, Matthews, L. H, Pavitt, R, Plumb, R. W, Sims, S. K, Ainscough, R. M. R, Attwood, J, Bailey, J. M, Barlow, K, Bruskiewich, R. M. M, Butcher, P. N, Carter, N. P, Chen, Y, Clee, C. M, Coggill, P. C, Davies, J, Davies, R. M, Dawson, E, Francis, M. D, Joy, A. A, Lamble, R. G, Langford, C. F, Macarthy, J, Mall, V, Moreland, A, Overton-Larty, E. K, Ross, M. T, Smith, L. C, Steward, C. A, Sulston, J. E, Tinsley, E. J, Turney, K. J, Willey, D. L, Wilson, G. D, McMurray, A. A, Dunham, I, Rogers, J

“…The human genome sequence will provide a reference for measuring DNA sequence variation in human populations. Sequence variants are responsible for the genetic…”
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NIPBL mutations and genetic heterogeneity in Cornelia de Lange syndrome by Borck, G, Redon, R, Sanlaville, D, Rio, M, Prieur, M, Lyonnet, S, Vekemans, M, Carter, N P, Munnich, A, Colleaux, L, Cormier-Daire, V

“…Cornelia de Lange syndrome (CdLS, also called Brachmann de Lange syndrome; OMIM 122470) is characterised by pre- and postnatal growth retardation,…”
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Ultra-high resolution array painting facilitates breakpoint sequencing by Gribble, S M, Kalaitzopoulos, D, Burford, D C, Prigmore, E, Selzer, R R, Ng, B L, Matthews, N S W, Porter, K M, Curley, R, Lindsay, S J, Baptista, J, Richmond, T A, Carter, N P

“…Objective: To describe a considerably advanced method of array painting, which allows the rapid, ultra-high resolution mapping of translocation breakpoints…”
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Degenerate oligonucleotide-primed PCR: general amplification of target DNA by a single degenerate primer by Telenius, H, Carter, N P, Bebb, C E, Nordenskjöld, M, Ponder, B A, Tunnacliffe, A

“…A version of the polymerase chain reaction (PCR), termed degenerate oligonucleotide-primed PCR (DOP-PCR), which employs oligonucleotides of partially…”
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A comparative study of karyotypes of muntjacs by chromosome painting by Yang, F, Carter, N P, Shi, L, Ferguson-Smith, M A

“…We have used a combination of chromosome sorting, degenerate oligonucleotide-primed polymerase chain reaction (DOP-PCR), chromosome painting and digital image…”
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Reciprocal Chromosome Painting Reveals Detailed Regions of Conserved Synteny between the Karyotypes of the Domestic Dog (Canis familiaris) and Human by Breen, Matthew, Thomas, Rachael, Binns, Matthew M., Carter, Nigel P., Langford, Cordelia F.

“…The domestic dog is increasingly being recognized as a useful model for human disease. The aim of this study was to conduct the first detailed whole-genome…”
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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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DECIPHER: web-based, community resource for clinical interpretation of rare variants in developmental disorders by SWAMINATHAN, Ganesh J, BRAGIN, Eugene, CHATZIMICHALI, Eleni A, CORPAS, Manuel, BEVAN, A. Paul, WRIGHT, Caroline F, CARTER, Nigel P, HURLES, Matthew E, FIRTH, Helen V

“…Patients with developmental disorders often harbour sub-microscopic deletions or duplications that lead to a disruption of normal gene expression or…”
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Applications of genomic microarrays to explore human chromosome structure and function by Carter, Nigel P., Vetrie, David

“…The combination of genomic microarrays with comparative genomic hybridization and with chromatin immunoprecipitation is providing an increasingly detailed view…”
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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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