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| Fältnamn | Indikatorer | Metadata |
|---|---|---|
| 000 | 04113naa a2200577 4500 | |
| 001 | oai:DiVA.org:kth-23095 | |
| 003 | SwePub | |
| 008 | 100810s2004 | |||||||||||000 ||eng| | |
| 009 | oai:DiVA.org:uu-71961 | |
| 009 | oai:prod.swepub.kib.ki.se:1951895 | |
| 009 | oai:DiVA.org:uu-92895 | |
| 024 | 7 | a https://urn.kb.se/resolve?urn=urn:nbn:se:kth:diva-230952 URI |
| 024 | 7 | a https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-719612 URI |
| 024 | 7 | a http://kipublications.ki.se/Default.aspx?queryparsed=id:19518952 URI |
| 024 | 7 | a https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-928952 URI |
| 040 | a (SwePub)kthd (SwePub)uud (SwePub)kid (SwePub)uu | |
| 041 | a engb eng | |
| 042 | 9 SwePub | |
| 072 | 7 | a ref2 swepub-contenttype |
| 072 | 7 | a art2 swepub-publicationtype |
| 100 | 1 | a Mantripragada, K. K.u Uppsala universitet,Institutionen för genetik och patologi4 aut |
| 245 | 1 0 | a DNA copy-number analysis of the 22q11 deletion-syndrome region using array-CGH with genomic and PCR-based targets |
| 264 | 1 | c 2004 |
| 338 | a print2 rdacarrier | |
| 500 | a QC 20100525 QC 20111031 | |
| 520 | a Deletions and duplications of genomic segments commonly cause developmental disorders. The resolution and efficiency in diagnosing such gene-dosage alterations can be drastically increased using microarray-based comparative genomic hybridization (array-CGH). However, array-CGH currently relies on spotting genomic clones as targets, which confers severe limitations to the approach including resolution of analysis and reliable gene-dosage assessment of regions with high content of redundant sequences. To improve the methodology for analysis, we compared the use of genomic clones, repeat-free pools of amplified genomic DNA and cDNAs (single and pooled) as targets on the array. For this purpose, we chose q11.2 locus on chromosome 22 as a testing ground. Microdeletions at 22q11 cause birth defects collectively described as the DiGeorge/velocardiofacial syndrome. The majority of patients present 3 Mb typical deletions. Here, we report the construction of a gene-dosage array, covering 6 Mb of 22q11 and including the typically deleted region. We hybridized DNA from six DiGeorge syndrome patients to the array, and show that as little as 11.5 kb non-redundant, repeat-free PCR-generated sequence can be used for reliable detection of hemizygous deletions. By extrapolation, this would allow analysis of the genome with an average resolution of 25 kb. In the case of cDNAs our results indicate that 3.5 kb sequence is necessary for accurate identification of haploid/diploid dosage alterations. Thus, for regions rich in redundant sequences and repeats, such as 22q11, a specifically tailored array-CGH approach is good for gene copy number profiling. | |
| 653 | a array-CGH | |
| 653 | a DNA dosage analysis | |
| 653 | a DiGeorge syndrome | |
| 653 | a chromosome 22 | |
| 653 | a DGS/VCFS | |
| 653 | a comparative genomic hybridization | |
| 653 | a digeorge-syndrome | |
| 653 | a digeorge/velocardiofacial syndrome | |
| 653 | a defects | |
| 653 | a mice | |
| 653 | a tbx1 | |
| 653 | a microarrays | |
| 653 | a gene | |
| 700 | 1 | a Tapia-Paez, I.u Karolinska Institutet4 aut |
| 700 | 1 | a Blennow, E.u Karolinska Institutet4 aut |
| 700 | 1 | a Nilsson, Peteru KTH,Bioteknologi4 aut0 (Swepub:kth)u1ws88sk |
| 700 | 1 | a Wedell, A.u Karolinska Institutet4 aut |
| 700 | 1 | a Dumanski, J. P.u Uppsala universitet,Institutionen för genetik och patologi4 aut |
| 710 | 2 | a Uppsala universitetb Institutionen för genetik och patologi4 org |
| 773 | 0 | t International Journal of Molecular Medicineg 13:2, s. 273-279q 13:2<273-279x 1107-3756x 1791-244X |
| 856 | 4 | u http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?db=PubMed&cmd=Retrieve&list_uids=14719134&dopt=Citation |
| 856 | 4 8 | u https://urn.kb.se/resolve?urn=urn:nbn:se:kth:diva-23095 |
| 856 | 4 8 | u https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-71961 |
| 856 | 4 8 | u http://kipublications.ki.se/Default.aspx?queryparsed=id:1951895 |
| 856 | 4 8 | u https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-92895 |
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