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New insights into the pathogenic mechanisms associated with CNVs: duplication of 17p13.3, mirror effect in 16p11.2 and recessive phenotype in 22q11.22

von Dott. Mafalda Mucciolo

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[1.] Mmu/Fragment 006 01 - Diskussion
Zuletzt bearbeitet: 2014-11-19 20:00:28 Singulus
Fragment, Gesichtet, KomplettPlagiat, Mmu, Papa 2010, SMWFragment, Schutzlevel sysop

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KomplettPlagiat
Bearbeiter
Graf Isolan
Gesichtet
Yes.png
Untersuchte Arbeit:
Seite: 6, Zeilen: 1-5
Quelle: Papa 2010
Seite(n): 10, Zeilen: 9-13
SKY and m-FISH rely mainly on the principal of differentially labelling each chromosome using a unique combination of fluorochromes and are especially beneficial for identifying the origin and content of supernumerary marker chromosomes (SMCs) and complex chromosome rearrangements (CCRs) that involve more than two chromosomes (Fig.1c). SKY and m-FISH rely mainly on the principal of differentially labelling each chromosome using a unique combination of fluorochromes and are especially beneficial for identifying the origin and content of supernumerary marker chromosomes (SMCs) and complex chromosome rearrangements (CCRs) that involve more than two chromosomes.
Anmerkungen

Nothing has been marked as a citation.

Sichter
(Graf Isolan), SleepyHollow02

[2.] Mmu/Fragment 006 13 - Diskussion
Zuletzt bearbeitet: 2014-12-22 15:35:29 Hindemith
Fragment, Gesichtet, Katzaki 2009, KomplettPlagiat, Mmu, SMWFragment, Schutzlevel sysop

Typus
KomplettPlagiat
Bearbeiter
Graf Isolan
Gesichtet
Yes.png
Untersuchte Arbeit:
Seite: 6, Zeilen: 13-20
Quelle: Katzaki 2009
Seite(n): 16, 18, Zeilen: 16: 21-26; 18:1-4
This method is very useful for determining the origin of unknown genetic material, such as SMCs and other unbalanced rearrangements. However, CGH does not detect balanced rearrangements, the resolution is on the order of 5–10 Mb and consequently many genomic disorders cannot be detected (Yunis 1976). The need to screen the whole genome at a resolution that surpassed the existing technologies led to the implementation of microarray based CGH. The principle is very similar to that employed for traditional CGH, where two differentially labelled specimens are cohybridized in the presence of Cot1 DNA (Fig.2).

88. Yunis J: High resolution of human chromosomes. Science 1976; 191: 1268-1270.

[Page 16]

This method allows the investigation of the whole genome and is very useful for determining the origin of unknown genetic material, such as SMCs and other unbalanced rearrangements.5 However, CGH does not detect balanced rearrangements, and the resolution is on the order of 5–10Mb, and consequently many genomic disorders cannot be detected.3

[Page 18]

The need to screen the whole genome at a resolution that surpassed the existing technologies led to the implementation of microarray based CGH. The principle is very similar to that employed for traditional CGH, where two differentially labeled specimens are cohybridized in the presence of Cot1 DNA; however, instead of metaphase spreads, the hybridization targets are DNA substrates immobilized on a glass slide.5-7


3 Edelmann L, Hirschhorn K: Clinical utility of array CGH for the detection of chromosomal imbalances associated with mental retardation and multiple congenital anomalies. Ann N Y Acad Sci 2009; 1151: 157-166.

4 Yunis J: High resolution of human chromosomes. Science 1976; 191: 1268-1270.

5 Trask BJ: Fluorescence in situ hybridization: applications in cytogenetics and gene mapping. Trends Genet 1991; 7: 149-154.

6 Pinkel D, Segraves R, Sudar D et al: High resolution analysis of DNA copy number variation using comparative genomic hybridization to microarrays. Nat Genet 1998; 20: 207-211.

7 Cai WW, Mao JH, Chow CW, Damani S, Balmain A, Bradley A: Genome-wide detection of chromosomal imbalances in tumors using BAC microarrays. Nat Biotechnol 2002; 20: 393-396.

Anmerkungen

Nothing has been marked as a citation. The wrong reference in Mmu can be found in Katzaki's list of references right behind the correct one.

Sichter
(Graf Isolan), SleepyHollow02


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