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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 004 07 - Diskussion
Zuletzt bearbeitet: 2016-02-06 20:32:27 Schumann
Fragment, Gesichtet, Katzaki 2009, Mmu, SMWFragment, Schutzlevel sysop, Verschleierung

Typus
Verschleierung
Bearbeiter
Graf Isolan
Gesichtet
Yes.png
Untersuchte Arbeit:
Seite: 4, Zeilen: 7-16
Quelle: Katzaki 2009
Seite(n): 15-16, Zeilen: 15:12-14 - 16:1-6
However, even high resolution karyotypes (Yunis 1976) are enable [sic] to detect many known microdeletion syndromes, which range from 3-5 Mb in size, and cannot detect smaller aberrations. In the 1990s the introduction of molecular cytogenetic techniques into the clinical laboratory setting represented a major advance in the ability to detect known syndromes and identify chromosomal rearrangements of unknown origin. Fluorescent in situ hybridization (FISH), which is the annealing of fluorescently labelled locus-specific probes to their complementary sequences in the genome, allowed for the detection of specific microdeletion syndromes (Trask 1991) (Fig.1b1-b2).

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

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

[Page 15]

However, even high resolution karyotypes4 are unreliable for detecting many known microdeletion syndromes, which range from 3-5 Mb in size, and cannot detect smaller aberrations.

[Page 16]

In the 1990s the introduction of molecular cytogenetic techniques into the clinical laboratory setting represented a major advance in the ability to detect known syndromes and identify chromosomal rearrangements of unknown origin. Fluorescence in situ hybridization (FISH), which is the annealing of fluorescently labelled locus-specific probes to their complimentary [sic] sequences in the genome, allowed the detection of specific microdeletion syndromes (Fig. 2).5


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.

Anmerkungen

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Sichter
(Graf Isolan), SleepyHollow02

[2.] Mmu/Fragment 004 21 - Diskussion
Zuletzt bearbeitet: 2014-11-19 19:59:04 Singulus
Fragment, Gesichtet, KomplettPlagiat, Mmu, Papa 2010, SMWFragment, Schutzlevel sysop

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KomplettPlagiat
Bearbeiter
Graf Isolan
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Yes.png
Untersuchte Arbeit:
Seite: 4, Zeilen: 21-25
Quelle: Papa 2010
Seite(n): 10, Zeilen: 4-9
Therefore this method is still predominantly used when the clinical phenotype is suggestive of a particular disorder. Several other FISH-based methods, including spectral karyotyping (SKY), multicolour FISH (m-FISH), and comparative genomic hybridization (CGH) have proven extremely useful in the identification of unknown chromosomal material. There are currently a number of commercially available FISH probes for the most common disorders and this method is still predominantly used when the clinical phenotype is suggestive of a particular disorder. Several other FISH-based methods, including spectral karyotyping (SKY), multicolour FISH (m-FISH), and comparative genomic hybridization (CGH) have proven extremely useful in the identification of unknown chromosomal material.
Anmerkungen

Nothing has been marked as a citation.

Sichter
(Graf Isolan), SleepyHollow02


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