high-resolution c microarray scanner Search Results


95
Agilent technologies r-phycoerythrin
R Phycoerythrin, supplied by Agilent technologies, used in various techniques. Bioz Stars score: 95/100, based on 1 PubMed citations. ZERO BIAS - scores, article reviews, protocol conditions and more
https://www.bioz.com/product/high-resolution+c+microarray+scanner/custom%40pb32%4016199750?v=Agilent+technologies
Average 95 stars, based on 1 article reviews
r-phycoerythrin - by Bioz Stars, 2026-07
95/100 stars
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90
Oxford Gene Technology cytosure interpret software
Junction analysis for patient 2 (A) Tiled DMD array-CGH profile of patient 2. Genomic DNA from the patient was hybridized to a <t>CytoSure</t> 4 × 44k DMD tiling array to determine the size of the chromosome X deletions flanking the inverted exon 50 of DMD . (B) The deletions flanking the inversion were 12.2 kb in intron 50 and 618 bp in intron 49, respectively. (C) Alignment of sequences at the junctions. Sequence data alignment for breakpoint junctions (microhomologies are boxed). Two base pairs microhomologies were found at each of the two breakpoint junctions; the reverse complement strand of intron 49 (1F, red) and the inverted complement strand of intron 50 (2F, blue) and the inverted complement strand of intron 49 (1R, red) and the reverse complement strand of intron 50 (2R, blue) are shown. (D) Complex rearrangement explained via the FoSTeS/MMBIR mechanism: (I) A DNA lesion is encountered in the first replication fork (red, solid line) of intron 49; the lagging strand (red, dotted line) disengages and invades the leading strand (blue, dotted line) in the first replication fork (dark blue, solid line) of intron 50 thus facilitating resumption of replication. (2) Simultaneously, another DNA lesion is encountered in a second replication fork (red, solid line) on intron 49 downstream of the initial fork. The leading strand (orange, dotted line) disengages and invades the lagging strand (dark blue, dotted line) of a second replication fork (light blue, solid line) on intron 50 downstream of that original fork. Dotted lines represent newly synthesized DNA. (3) Resumption of replication on the original template occurs.
Cytosure Interpret Software, supplied by Oxford Gene Technology, used in various techniques. Bioz Stars score: 90/100, based on 1 PubMed citations. ZERO BIAS - scores, article reviews, protocol conditions and more
https://www.bioz.com/product/high-resolution+c+microarray+scanner/pmc04303224-59-17-20?v=Oxford+Gene+Technology
Average 90 stars, based on 1 article reviews
cytosure interpret software - by Bioz Stars, 2026-07
90/100 stars
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90
BioDiscovery Inc nexus copy software® discovery edition v. 6.0
Junction analysis for patient 2 (A) Tiled DMD array-CGH profile of patient 2. Genomic DNA from the patient was hybridized to a <t>CytoSure</t> 4 × 44k DMD tiling array to determine the size of the chromosome X deletions flanking the inverted exon 50 of DMD . (B) The deletions flanking the inversion were 12.2 kb in intron 50 and 618 bp in intron 49, respectively. (C) Alignment of sequences at the junctions. Sequence data alignment for breakpoint junctions (microhomologies are boxed). Two base pairs microhomologies were found at each of the two breakpoint junctions; the reverse complement strand of intron 49 (1F, red) and the inverted complement strand of intron 50 (2F, blue) and the inverted complement strand of intron 49 (1R, red) and the reverse complement strand of intron 50 (2R, blue) are shown. (D) Complex rearrangement explained via the FoSTeS/MMBIR mechanism: (I) A DNA lesion is encountered in the first replication fork (red, solid line) of intron 49; the lagging strand (red, dotted line) disengages and invades the leading strand (blue, dotted line) in the first replication fork (dark blue, solid line) of intron 50 thus facilitating resumption of replication. (2) Simultaneously, another DNA lesion is encountered in a second replication fork (red, solid line) on intron 49 downstream of the initial fork. The leading strand (orange, dotted line) disengages and invades the lagging strand (dark blue, dotted line) of a second replication fork (light blue, solid line) on intron 50 downstream of that original fork. Dotted lines represent newly synthesized DNA. (3) Resumption of replication on the original template occurs.
Nexus Copy Software® Discovery Edition V. 6.0, supplied by BioDiscovery Inc, used in various techniques. Bioz Stars score: 90/100, based on 1 PubMed citations. ZERO BIAS - scores, article reviews, protocol conditions and more
https://www.bioz.com/product/high-resolution+c+microarray+scanner/pm25051214-47-33-41?v=BioDiscovery+Inc
Average 90 stars, based on 1 article reviews
nexus copy software® discovery edition v. 6.0 - by Bioz Stars, 2026-07
90/100 stars
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90
Bacus Laboratories automated scanner
Junction analysis for patient 2 (A) Tiled DMD array-CGH profile of patient 2. Genomic DNA from the patient was hybridized to a <t>CytoSure</t> 4 × 44k DMD tiling array to determine the size of the chromosome X deletions flanking the inverted exon 50 of DMD . (B) The deletions flanking the inversion were 12.2 kb in intron 50 and 618 bp in intron 49, respectively. (C) Alignment of sequences at the junctions. Sequence data alignment for breakpoint junctions (microhomologies are boxed). Two base pairs microhomologies were found at each of the two breakpoint junctions; the reverse complement strand of intron 49 (1F, red) and the inverted complement strand of intron 50 (2F, blue) and the inverted complement strand of intron 49 (1R, red) and the reverse complement strand of intron 50 (2R, blue) are shown. (D) Complex rearrangement explained via the FoSTeS/MMBIR mechanism: (I) A DNA lesion is encountered in the first replication fork (red, solid line) of intron 49; the lagging strand (red, dotted line) disengages and invades the leading strand (blue, dotted line) in the first replication fork (dark blue, solid line) of intron 50 thus facilitating resumption of replication. (2) Simultaneously, another DNA lesion is encountered in a second replication fork (red, solid line) on intron 49 downstream of the initial fork. The leading strand (orange, dotted line) disengages and invades the lagging strand (dark blue, dotted line) of a second replication fork (light blue, solid line) on intron 50 downstream of that original fork. Dotted lines represent newly synthesized DNA. (3) Resumption of replication on the original template occurs.
Automated Scanner, supplied by Bacus Laboratories, used in various techniques. Bioz Stars score: 90/100, based on 1 PubMed citations. ZERO BIAS - scores, article reviews, protocol conditions and more
https://www.bioz.com/product/high-resolution+c+microarray+scanner/pmc02813949-70-51-52?v=Bacus+Laboratories
Average 90 stars, based on 1 article reviews
automated scanner - by Bioz Stars, 2026-07
90/100 stars
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90
BioMicro Systems Inc maui wash system biomicro systems
Junction analysis for patient 2 (A) Tiled DMD array-CGH profile of patient 2. Genomic DNA from the patient was hybridized to a <t>CytoSure</t> 4 × 44k DMD tiling array to determine the size of the chromosome X deletions flanking the inverted exon 50 of DMD . (B) The deletions flanking the inversion were 12.2 kb in intron 50 and 618 bp in intron 49, respectively. (C) Alignment of sequences at the junctions. Sequence data alignment for breakpoint junctions (microhomologies are boxed). Two base pairs microhomologies were found at each of the two breakpoint junctions; the reverse complement strand of intron 49 (1F, red) and the inverted complement strand of intron 50 (2F, blue) and the inverted complement strand of intron 49 (1R, red) and the reverse complement strand of intron 50 (2R, blue) are shown. (D) Complex rearrangement explained via the FoSTeS/MMBIR mechanism: (I) A DNA lesion is encountered in the first replication fork (red, solid line) of intron 49; the lagging strand (red, dotted line) disengages and invades the leading strand (blue, dotted line) in the first replication fork (dark blue, solid line) of intron 50 thus facilitating resumption of replication. (2) Simultaneously, another DNA lesion is encountered in a second replication fork (red, solid line) on intron 49 downstream of the initial fork. The leading strand (orange, dotted line) disengages and invades the lagging strand (dark blue, dotted line) of a second replication fork (light blue, solid line) on intron 50 downstream of that original fork. Dotted lines represent newly synthesized DNA. (3) Resumption of replication on the original template occurs.
Maui Wash System Biomicro Systems, supplied by BioMicro Systems Inc, used in various techniques. Bioz Stars score: 90/100, based on 1 PubMed citations. ZERO BIAS - scores, article reviews, protocol conditions and more
https://www.bioz.com/product/high-resolution+c+microarray+scanner/pmc06989614-263-18-21?v=BioMicro+Systems+Inc
Average 90 stars, based on 1 article reviews
maui wash system biomicro systems - by Bioz Stars, 2026-07
90/100 stars
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90
BioMicro Systems Inc maui wash system
Junction analysis for patient 2 (A) Tiled DMD array-CGH profile of patient 2. Genomic DNA from the patient was hybridized to a <t>CytoSure</t> 4 × 44k DMD tiling array to determine the size of the chromosome X deletions flanking the inverted exon 50 of DMD . (B) The deletions flanking the inversion were 12.2 kb in intron 50 and 618 bp in intron 49, respectively. (C) Alignment of sequences at the junctions. Sequence data alignment for breakpoint junctions (microhomologies are boxed). Two base pairs microhomologies were found at each of the two breakpoint junctions; the reverse complement strand of intron 49 (1F, red) and the inverted complement strand of intron 50 (2F, blue) and the inverted complement strand of intron 49 (1R, red) and the reverse complement strand of intron 50 (2R, blue) are shown. (D) Complex rearrangement explained via the FoSTeS/MMBIR mechanism: (I) A DNA lesion is encountered in the first replication fork (red, solid line) of intron 49; the lagging strand (red, dotted line) disengages and invades the leading strand (blue, dotted line) in the first replication fork (dark blue, solid line) of intron 50 thus facilitating resumption of replication. (2) Simultaneously, another DNA lesion is encountered in a second replication fork (red, solid line) on intron 49 downstream of the initial fork. The leading strand (orange, dotted line) disengages and invades the lagging strand (dark blue, dotted line) of a second replication fork (light blue, solid line) on intron 50 downstream of that original fork. Dotted lines represent newly synthesized DNA. (3) Resumption of replication on the original template occurs.
Maui Wash System, supplied by BioMicro Systems Inc, used in various techniques. Bioz Stars score: 90/100, based on 1 PubMed citations. ZERO BIAS - scores, article reviews, protocol conditions and more
https://www.bioz.com/product/high-resolution+c+microarray+scanner/pmc03008265-101-46-49?v=BioMicro+Systems+Inc
Average 90 stars, based on 1 article reviews
maui wash system - by Bioz Stars, 2026-07
90/100 stars
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90
NimbleGen Systems GmbH nimblescan software
Junction analysis for patient 2 (A) Tiled DMD array-CGH profile of patient 2. Genomic DNA from the patient was hybridized to a <t>CytoSure</t> 4 × 44k DMD tiling array to determine the size of the chromosome X deletions flanking the inverted exon 50 of DMD . (B) The deletions flanking the inversion were 12.2 kb in intron 50 and 618 bp in intron 49, respectively. (C) Alignment of sequences at the junctions. Sequence data alignment for breakpoint junctions (microhomologies are boxed). Two base pairs microhomologies were found at each of the two breakpoint junctions; the reverse complement strand of intron 49 (1F, red) and the inverted complement strand of intron 50 (2F, blue) and the inverted complement strand of intron 49 (1R, red) and the reverse complement strand of intron 50 (2R, blue) are shown. (D) Complex rearrangement explained via the FoSTeS/MMBIR mechanism: (I) A DNA lesion is encountered in the first replication fork (red, solid line) of intron 49; the lagging strand (red, dotted line) disengages and invades the leading strand (blue, dotted line) in the first replication fork (dark blue, solid line) of intron 50 thus facilitating resumption of replication. (2) Simultaneously, another DNA lesion is encountered in a second replication fork (red, solid line) on intron 49 downstream of the initial fork. The leading strand (orange, dotted line) disengages and invades the lagging strand (dark blue, dotted line) of a second replication fork (light blue, solid line) on intron 50 downstream of that original fork. Dotted lines represent newly synthesized DNA. (3) Resumption of replication on the original template occurs.
Nimblescan Software, supplied by NimbleGen Systems GmbH, used in various techniques. Bioz Stars score: 90/100, based on 1 PubMed citations. ZERO BIAS - scores, article reviews, protocol conditions and more
https://www.bioz.com/product/high-resolution+c+microarray+scanner/pmc03924705-444-30-32?v=NimbleGen+Systems+GmbH
Average 90 stars, based on 1 article reviews
nimblescan software - by Bioz Stars, 2026-07
90/100 stars
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90
Becton Dickinson lsrii facs instrument
Junction analysis for patient 2 (A) Tiled DMD array-CGH profile of patient 2. Genomic DNA from the patient was hybridized to a <t>CytoSure</t> 4 × 44k DMD tiling array to determine the size of the chromosome X deletions flanking the inverted exon 50 of DMD . (B) The deletions flanking the inversion were 12.2 kb in intron 50 and 618 bp in intron 49, respectively. (C) Alignment of sequences at the junctions. Sequence data alignment for breakpoint junctions (microhomologies are boxed). Two base pairs microhomologies were found at each of the two breakpoint junctions; the reverse complement strand of intron 49 (1F, red) and the inverted complement strand of intron 50 (2F, blue) and the inverted complement strand of intron 49 (1R, red) and the reverse complement strand of intron 50 (2R, blue) are shown. (D) Complex rearrangement explained via the FoSTeS/MMBIR mechanism: (I) A DNA lesion is encountered in the first replication fork (red, solid line) of intron 49; the lagging strand (red, dotted line) disengages and invades the leading strand (blue, dotted line) in the first replication fork (dark blue, solid line) of intron 50 thus facilitating resumption of replication. (2) Simultaneously, another DNA lesion is encountered in a second replication fork (red, solid line) on intron 49 downstream of the initial fork. The leading strand (orange, dotted line) disengages and invades the lagging strand (dark blue, dotted line) of a second replication fork (light blue, solid line) on intron 50 downstream of that original fork. Dotted lines represent newly synthesized DNA. (3) Resumption of replication on the original template occurs.
Lsrii Facs Instrument, supplied by Becton Dickinson, used in various techniques. Bioz Stars score: 90/100, based on 1 PubMed citations. ZERO BIAS - scores, article reviews, protocol conditions and more
https://www.bioz.com/product/high-resolution+c+microarray+scanner/pmc02813949-70-8-11?v=Becton+Dickinson
Average 90 stars, based on 1 article reviews
lsrii facs instrument - by Bioz Stars, 2026-07
90/100 stars
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90
Promega genomic dna
Junction analysis for patient 2 (A) Tiled DMD array-CGH profile of patient 2. Genomic DNA from the patient was hybridized to a <t>CytoSure</t> 4 × 44k DMD tiling array to determine the size of the chromosome X deletions flanking the inverted exon 50 of DMD . (B) The deletions flanking the inversion were 12.2 kb in intron 50 and 618 bp in intron 49, respectively. (C) Alignment of sequences at the junctions. Sequence data alignment for breakpoint junctions (microhomologies are boxed). Two base pairs microhomologies were found at each of the two breakpoint junctions; the reverse complement strand of intron 49 (1F, red) and the inverted complement strand of intron 50 (2F, blue) and the inverted complement strand of intron 49 (1R, red) and the reverse complement strand of intron 50 (2R, blue) are shown. (D) Complex rearrangement explained via the FoSTeS/MMBIR mechanism: (I) A DNA lesion is encountered in the first replication fork (red, solid line) of intron 49; the lagging strand (red, dotted line) disengages and invades the leading strand (blue, dotted line) in the first replication fork (dark blue, solid line) of intron 50 thus facilitating resumption of replication. (2) Simultaneously, another DNA lesion is encountered in a second replication fork (red, solid line) on intron 49 downstream of the initial fork. The leading strand (orange, dotted line) disengages and invades the lagging strand (dark blue, dotted line) of a second replication fork (light blue, solid line) on intron 50 downstream of that original fork. Dotted lines represent newly synthesized DNA. (3) Resumption of replication on the original template occurs.
Genomic Dna, supplied by Promega, used in various techniques. Bioz Stars score: 90/100, based on 1 PubMed citations. ZERO BIAS - scores, article reviews, protocol conditions and more
https://www.bioz.com/product/high-resolution+c+microarray+scanner/pmc05532302__41598_2017_6659_MOESM1_ESM-6-14-17?v=Promega
Average 90 stars, based on 1 article reviews
genomic dna - by Bioz Stars, 2026-07
90/100 stars
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90
BioMicro Systems Inc 12-bay hybridization station biomicro systems
Junction analysis for patient 2 (A) Tiled DMD array-CGH profile of patient 2. Genomic DNA from the patient was hybridized to a <t>CytoSure</t> 4 × 44k DMD tiling array to determine the size of the chromosome X deletions flanking the inverted exon 50 of DMD . (B) The deletions flanking the inversion were 12.2 kb in intron 50 and 618 bp in intron 49, respectively. (C) Alignment of sequences at the junctions. Sequence data alignment for breakpoint junctions (microhomologies are boxed). Two base pairs microhomologies were found at each of the two breakpoint junctions; the reverse complement strand of intron 49 (1F, red) and the inverted complement strand of intron 50 (2F, blue) and the inverted complement strand of intron 49 (1R, red) and the reverse complement strand of intron 50 (2R, blue) are shown. (D) Complex rearrangement explained via the FoSTeS/MMBIR mechanism: (I) A DNA lesion is encountered in the first replication fork (red, solid line) of intron 49; the lagging strand (red, dotted line) disengages and invades the leading strand (blue, dotted line) in the first replication fork (dark blue, solid line) of intron 50 thus facilitating resumption of replication. (2) Simultaneously, another DNA lesion is encountered in a second replication fork (red, solid line) on intron 49 downstream of the initial fork. The leading strand (orange, dotted line) disengages and invades the lagging strand (dark blue, dotted line) of a second replication fork (light blue, solid line) on intron 50 downstream of that original fork. Dotted lines represent newly synthesized DNA. (3) Resumption of replication on the original template occurs.
12 Bay Hybridization Station Biomicro Systems, supplied by BioMicro Systems Inc, used in various techniques. Bioz Stars score: 90/100, based on 1 PubMed citations. ZERO BIAS - scores, article reviews, protocol conditions and more
https://www.bioz.com/product/high-resolution+c+microarray+scanner/pmc03478167-128-5-8?v=BioMicro+Systems+Inc
Average 90 stars, based on 1 article reviews
12-bay hybridization station biomicro systems - by Bioz Stars, 2026-07
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94
Jackson Immuno cy 5 conjugated streptavidin
Junction analysis for patient 2 (A) Tiled DMD array-CGH profile of patient 2. Genomic DNA from the patient was hybridized to a <t>CytoSure</t> 4 × 44k DMD tiling array to determine the size of the chromosome X deletions flanking the inverted exon 50 of DMD . (B) The deletions flanking the inversion were 12.2 kb in intron 50 and 618 bp in intron 49, respectively. (C) Alignment of sequences at the junctions. Sequence data alignment for breakpoint junctions (microhomologies are boxed). Two base pairs microhomologies were found at each of the two breakpoint junctions; the reverse complement strand of intron 49 (1F, red) and the inverted complement strand of intron 50 (2F, blue) and the inverted complement strand of intron 49 (1R, red) and the reverse complement strand of intron 50 (2R, blue) are shown. (D) Complex rearrangement explained via the FoSTeS/MMBIR mechanism: (I) A DNA lesion is encountered in the first replication fork (red, solid line) of intron 49; the lagging strand (red, dotted line) disengages and invades the leading strand (blue, dotted line) in the first replication fork (dark blue, solid line) of intron 50 thus facilitating resumption of replication. (2) Simultaneously, another DNA lesion is encountered in a second replication fork (red, solid line) on intron 49 downstream of the initial fork. The leading strand (orange, dotted line) disengages and invades the lagging strand (dark blue, dotted line) of a second replication fork (light blue, solid line) on intron 50 downstream of that original fork. Dotted lines represent newly synthesized DNA. (3) Resumption of replication on the original template occurs.
Cy 5 Conjugated Streptavidin, supplied by Jackson Immuno, used in various techniques. Bioz Stars score: 94/100, based on 1 PubMed citations. ZERO BIAS - scores, article reviews, protocol conditions and more
https://www.bioz.com/product/high-resolution+c+microarray+scanner/pmc04158663-156-13-15?v=Jackson+Immuno
Average 94 stars, based on 1 article reviews
cy 5 conjugated streptavidin - by Bioz Stars, 2026-07
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Image Search Results


Junction analysis for patient 2 (A) Tiled DMD array-CGH profile of patient 2. Genomic DNA from the patient was hybridized to a CytoSure 4 × 44k DMD tiling array to determine the size of the chromosome X deletions flanking the inverted exon 50 of DMD . (B) The deletions flanking the inversion were 12.2 kb in intron 50 and 618 bp in intron 49, respectively. (C) Alignment of sequences at the junctions. Sequence data alignment for breakpoint junctions (microhomologies are boxed). Two base pairs microhomologies were found at each of the two breakpoint junctions; the reverse complement strand of intron 49 (1F, red) and the inverted complement strand of intron 50 (2F, blue) and the inverted complement strand of intron 49 (1R, red) and the reverse complement strand of intron 50 (2R, blue) are shown. (D) Complex rearrangement explained via the FoSTeS/MMBIR mechanism: (I) A DNA lesion is encountered in the first replication fork (red, solid line) of intron 49; the lagging strand (red, dotted line) disengages and invades the leading strand (blue, dotted line) in the first replication fork (dark blue, solid line) of intron 50 thus facilitating resumption of replication. (2) Simultaneously, another DNA lesion is encountered in a second replication fork (red, solid line) on intron 49 downstream of the initial fork. The leading strand (orange, dotted line) disengages and invades the lagging strand (dark blue, dotted line) of a second replication fork (light blue, solid line) on intron 50 downstream of that original fork. Dotted lines represent newly synthesized DNA. (3) Resumption of replication on the original template occurs.

Journal: Molecular Genetics & Genomic Medicine

Article Title: Complex genomic rearrangements in the dystrophin gene due to replication-based mechanisms

doi: 10.1002/mgg3.108

Figure Lengend Snippet: Junction analysis for patient 2 (A) Tiled DMD array-CGH profile of patient 2. Genomic DNA from the patient was hybridized to a CytoSure 4 × 44k DMD tiling array to determine the size of the chromosome X deletions flanking the inverted exon 50 of DMD . (B) The deletions flanking the inversion were 12.2 kb in intron 50 and 618 bp in intron 49, respectively. (C) Alignment of sequences at the junctions. Sequence data alignment for breakpoint junctions (microhomologies are boxed). Two base pairs microhomologies were found at each of the two breakpoint junctions; the reverse complement strand of intron 49 (1F, red) and the inverted complement strand of intron 50 (2F, blue) and the inverted complement strand of intron 49 (1R, red) and the reverse complement strand of intron 50 (2R, blue) are shown. (D) Complex rearrangement explained via the FoSTeS/MMBIR mechanism: (I) A DNA lesion is encountered in the first replication fork (red, solid line) of intron 49; the lagging strand (red, dotted line) disengages and invades the leading strand (blue, dotted line) in the first replication fork (dark blue, solid line) of intron 50 thus facilitating resumption of replication. (2) Simultaneously, another DNA lesion is encountered in a second replication fork (red, solid line) on intron 49 downstream of the initial fork. The leading strand (orange, dotted line) disengages and invades the lagging strand (dark blue, dotted line) of a second replication fork (light blue, solid line) on intron 50 downstream of that original fork. Dotted lines represent newly synthesized DNA. (3) Resumption of replication on the original template occurs.

Article Snippet: The slides were scanned on an Agilent High-Resolution C Scanner (Agilent, Santa Clara, CA) and analyzed using CytoSure Interpret software (Oxford Gene Technology IP, UK).

Techniques: Sequencing, Synthesized

Microarray analysis for patient 3 A) Tiled DMD array-CGH profile of patient 3 and her parents. Genomic DNA from patient 3 and her parents were hybridized to a CytoSure 4 × 44k DMD tiling array to determine the carrier status in the parents and to confirm the duplication breakpoint junctions in patient 3 on DMD . No deletion/duplication was identified in the father, a deletion of exon 47 was revealed in the mother and an apparent duplication, deletion, duplication was seen in the proband. B) Schematic overview of the DMD rearrangements in the patient with a deletion of exon 47 on the maternal allele and a de novo non-contiguous duplication ( MID1 , upstream of DMD and exons 45–49 of DMD ) on the paternal allele. Red lines indicate duplications and green lines indicate deletion.

Journal: Molecular Genetics & Genomic Medicine

Article Title: Complex genomic rearrangements in the dystrophin gene due to replication-based mechanisms

doi: 10.1002/mgg3.108

Figure Lengend Snippet: Microarray analysis for patient 3 A) Tiled DMD array-CGH profile of patient 3 and her parents. Genomic DNA from patient 3 and her parents were hybridized to a CytoSure 4 × 44k DMD tiling array to determine the carrier status in the parents and to confirm the duplication breakpoint junctions in patient 3 on DMD . No deletion/duplication was identified in the father, a deletion of exon 47 was revealed in the mother and an apparent duplication, deletion, duplication was seen in the proband. B) Schematic overview of the DMD rearrangements in the patient with a deletion of exon 47 on the maternal allele and a de novo non-contiguous duplication ( MID1 , upstream of DMD and exons 45–49 of DMD ) on the paternal allele. Red lines indicate duplications and green lines indicate deletion.

Article Snippet: The slides were scanned on an Agilent High-Resolution C Scanner (Agilent, Santa Clara, CA) and analyzed using CytoSure Interpret software (Oxford Gene Technology IP, UK).

Techniques: Microarray

Microarray analysis for patients 4 and 5. Genomic DNA from patients was hybridized to a CytoSure 4 × 44k DMD tiling array to determine the duplication breakpoint junctions on chromosome X of DMD . (A) Patient 4: High-density arrays show two duplication segments of the dystophin gene; exons 45–51 and 60–67. The second duplication segment was interrupted with a small region of no copy number changes in intron 62. (C) Patient 5: Two non-contiguous duplications in DMD were seen: exon 1 and exons 11–12. (B and D). Schematic overview of the suggested FoSTeS/MMBIR mechanism creating the noncontiguous duplication in DMD in patients 4 and 5. The numbers indicate where template switching would have occurred and the arrows indicate the direction. Red lines indicate duplications.

Journal: Molecular Genetics & Genomic Medicine

Article Title: Complex genomic rearrangements in the dystrophin gene due to replication-based mechanisms

doi: 10.1002/mgg3.108

Figure Lengend Snippet: Microarray analysis for patients 4 and 5. Genomic DNA from patients was hybridized to a CytoSure 4 × 44k DMD tiling array to determine the duplication breakpoint junctions on chromosome X of DMD . (A) Patient 4: High-density arrays show two duplication segments of the dystophin gene; exons 45–51 and 60–67. The second duplication segment was interrupted with a small region of no copy number changes in intron 62. (C) Patient 5: Two non-contiguous duplications in DMD were seen: exon 1 and exons 11–12. (B and D). Schematic overview of the suggested FoSTeS/MMBIR mechanism creating the noncontiguous duplication in DMD in patients 4 and 5. The numbers indicate where template switching would have occurred and the arrows indicate the direction. Red lines indicate duplications.

Article Snippet: The slides were scanned on an Agilent High-Resolution C Scanner (Agilent, Santa Clara, CA) and analyzed using CytoSure Interpret software (Oxford Gene Technology IP, UK).

Techniques: Microarray