Results 31 to 40 of about 23,719,178 (251)

A novel custom high density-comparative genomic hybridization array detects common rearrangements as well as deep intronic mutations in dystrophinopathies [PDF]

, 2008
Background: The commonest pathogenic DMD changes are intragenic deletions/duplications which make up to 78% of all cases and point mutations (roughly 20%) detectable through direct sequencing.
McCauley, J, A. Ferlini, Martoni Elena, Cecilia Trabanelli, Ashton Emma, Ciccone, R, S. Abbs, Elena Bassi, Venturoli A, F. Muntoni, Emma Ashton, Rimessi P, Brioschi S, Neri M, Venturoli, A, Elena Martoni, Bovolenta, M, McCauley J, M. Neri, Trabanelli Cecilia, Maria S Falzarano, McCauley Joanne, Ferlini Alessandra, Muntoni Francesco, J. McCauley, Fabris M, CICCONE, ROBERTO, Merlini Luciano, Gualandi, F, Shu Yau, Yau S, Martoni, E, Paola Rimessi, Yau Shu, M. S. Falzarano, E. Martoni, Venturoli Anna, Ferlini, A, Luciano Merlini, Merlini L, Brioschi Simona, Spitali, P, Falzarano Maria S, Ciccone Roberto, Martoni E, Anna Venturoli, Spitali P, Abbs S, Marina Fabris, Sergio Fini, Abbs, S, Bassi E, Ferlini A., Ashton E, E. Bassi, Merlini, L, C. Trabanelli, Fini Sergio, M. Bovolenta, Roberto Ciccone, Fini, S, Yau, S, M. Fabris, Ashton, E, Alessandra Ferlini, L. Merlini, S. Fini, E. Ashton, Muntoni, F, Rimessi, P, Simona Brioschi, P. Rimessi, F. Gualandi, Francesco Muntoni, Brioschi, S, Neri, M, Matteo Bovolenta, Marcella Neri, Gualandi F, Bassi, E, Falzarano MS, Pietro Spitali, P. Spitali, S. Yau, Fabris, M, Abbs Stephen, S. Brioschi, Trabanelli C, Falzarano, MS, Fabris Marina, A. Venturoli, Spitali Pietro, Stephen Abbs, Francesca Gualandi, Bassi Elena, Muntoni F, Trabanelli, C, Bovolenta Matteo, Bovolenta M, Gualandi Francesca, Joanne McCauley, Neri Marcella, Rimessi Paola, Fini S   +103 more
core   +1 more source

Efficient oligonucleotide probe selection for pan-genomic tiling arrays

BMC Bioinformatics, 2009
Background Array comparative genomic hybridization is a fast and cost-effective method for detecting, genotyping, and comparing the genomic sequence of unknown bacterial isolates.
Zhang Wei, Deng Xiangyu, Phillippy Adam M, Salzberg Steven L   +3 more
doaj   +1 more source

A strategy for detection of known and unknown SNP using a minimum number of oligonucleotides applicable in the clinical settings

Journal of Translational Medicine, 2003
Detection of unknown single nucleotide polymorphism (SNP) relies on large scale sequencing expeditions of genomic fragments or complex high-throughput chip technology.
Klein Harvey, Simon Richard, Panelli Monica, Zhao Yingdong, Adams Sharon, Wang Ena, Marincola Francesco M   +6 more
doaj   +1 more source

CGHpower: exploring sample size calculations for chromosomal copy number experiments [PDF]

, 2010
Background Determining a suitable sample size is an important step in the planning of microarray experiments. Increasing the number of arrays gives more statistical power, but adds to the total cost of the experiment.
Scheinin, A.I., Ferreira, J.A., Mark A van de Wiel, Scheinin Ilari, Gerrit A Meijer, Bauke Ylstra, Ylstra Bauke, Ilari Scheinin, Knuutila, Sakari, Ferreira, Jose A., José A Ferreira, Knuutila Sakari, Scheinin, Ilari, Knuutila, S., van de Wiel, Mark A., Wiel, M.A. van de, Sakari Knuutila, Ferreira José A, Ylstra, Bauke, Meijer Gerrit A, Meijer, Gerrit A., Ylstra, B., Meijer, G.A., van de Wiel, M.A., van de Wiel Mark A   +24 more
core   +3 more sources

Identical probes on different high-density oligonucleotide microarrays can produce different measurements of gene expression

BMC Genomics, 2006
Background There are many potential sources of variability in a microarray experiment. Variation can arise from many aspects of the collection and processing of samples for gene expression analysis.
Enkemann Steven A, Yoder Sean J, Zhang LanMin   +2 more
doaj   +1 more source

DNA microarrays in cancer diagnosis and prognosis [PDF]

Einstein (São Paulo), 2005
This review discusses recent advances in our understanding ofthe human genome and the application of derived technologies inthe medical area. It focuses on the use of DNA microarray fordiagnosis, prognosis, and therapeutic purposes in oncology, andthe ...
Oswaldo Keith Okamoto
doaj  

Design and evaluation of Actichip, a thematic microarray for the study of the actin cytoskeleton

BMC Genomics, 2007
Background The actin cytoskeleton plays a crucial role in supporting and regulating numerous cellular processes. Mutations or alterations in the expression levels affecting the actin cytoskeleton system or related regulatory mechanisms are often ...
Chalmel Frédéric, Muller Arnaud, Yatskou Mikalai, Vetter Guillaume, Mehlen André, Muller Jean, Poch Olivier, Friederich Evelyne, Vallar Laurent   +8 more
doaj   +1 more source

Correction of scaling mismatches in oligonucleotide microarray data [PDF]

, 2006
Background: Gene expression microarray data is notoriously subject to high signal variability. Moreover, unavoidable variation in the concentration of transcripts applied to microarrays may result in poor scaling of the summarized data which can hamper ...
Hubank, M, Barenco, M, Callard, Robin, Barenco, Martino, Michael Hubank, Callard, R, Brewer, Daniel, Jaroslav Stark, Daniel Brewer, Stark, J, Hubank, Michael, Tomescu Daniela, Brewer Daniel, Brewer, D, Stark Jaroslav, Barenco Martino, Callard Robin, Tomescu, Daniela, Martino Barenco, Stark, Jaroslav, Hubank Michael, Robin Callard, Tomescu, D, Daniela Tomescu   +23 more
core   +1 more source

A comparison of alternative 60-mer probe designs in an in-situ synthesized oligonucleotide microarray

BMC Genomics, 2006
Background DNA microarrays have proven powerful for functional genomics studies. Several technologies exist for the generation of whole-genome arrays.
Fairbanks Benjamin D, Hume Patrick S, Karimpour-Fard Anis, Leiske Danielle L, Gill Ryan T   +4 more
doaj   +1 more source

NOTCH2 is neither rearranged nor mutated in t(1;19) positive oligodendrogliomas. [PDF]

PLoS ONE, 2009
The combined deletion of 1p and 19q chromosomal arms is frequent in oligodendrogliomas (OD) and has recently been shown to be mediated by an unbalanced t(1;19) translocation.
Magdalena Benetkiewicz, Ahmed Idbaih, Pierre-Yves Cousin, Blandine Boisselier, Yannick Marie, Emmanuelle Crinière, Khê Hoang-Xuan, Jean-Yves Delattre, Marc Sanson, Olivier Delattre   +9 more
doaj   +1 more source