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3 gesichtete Fragmente: "Verdächtig" oder "Keine Wertung"

[1.] Mmu/Fragment 004 10 - Diskussion
Bearbeitet: 22. December 2014, 15:58 (Hindemith)
Erstellt: 4. November 2014, 20:12 Graf Isolan
Dublette, Fragment, Gesichtet, KeineWertung, Mmu, Papa 2010, SMWFragment, Schutzlevel sysop

Typus
KeineWertung
Bearbeiter
Graf Isolan
Gesichtet
Yes.png
Untersuchte Arbeit:
Seite: 4, Zeilen: 10-16
Quelle: Papa 2010
Seite(n): 9-10, Zeilen: 9: 25-27 - 10:1-3
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.

[Page 9]

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

[Page 10]

origin. 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. [3]


3. Trask, B.J., Fluorescence in situ hybridization: applications in cytogenetics and gene mapping. Trends Genet, 1991. 7(5): p. 149-54.

Anmerkungen

Nothing has been marked as a citation.

Sichter
(Graf Isolan), SleepyHollow02

[2.] Mmu/Fragment 059 06 - Diskussion
Bearbeitet: 20. December 2014, 14:58 (Singulus)
Erstellt: 13. November 2014, 17:14 SleepyHollow02
Fragment, Gesichtet, KeineWertung, Mmu, Papa 2010, SMWFragment, Schutzlevel

Typus
KeineWertung
Bearbeiter
SleepyHollow02
Gesichtet
Yes.png
Untersuchte Arbeit:
Seite: 59, Zeilen: 6-9
Quelle: Papa 2010
Seite(n): 45, Zeilen: left col., last lines
Array-CGH analysis was performed using commercially available oligonucleotide microarrays containing about 105.000 60-mer probes (Human Genome CGH Microarray 105K Kit respectively, Agilent Technologies, Santa Clara, California) as previously reported by Pescucci et al.

17. Pescucci C, Caselli R, Grosso S, et al. 2q24-q31 deletion: report of a case and review of the literature. Eur J Med Genet 2007;50(1):21-32.

Array-CGH analysis was performed using commercially available oligonucleotide microarrays containing about 43.000 60-mer probes (Human Genome CGH Microarray 44B Kit, Agilent Technologies, Santa Clara, California) as previously reported.[6]

6.Pescucci C, Caselli R, Grosso S, Mencarelli MA, Mari F, Farnetani MA, Piccini B, Artuso R, Bruttini M, Priolo M, Zuffardi O, Gimelli S, Balestri P, Renieri A. 2q24-q31 deletion: report of a case and review of the literature. Eur J Med Genet 2007;50:21-32.

Anmerkungen
Sichter
(SleepyHollow02) Singulus

[3.] Mmu/Fragment 016 18 - Diskussion
Bearbeitet: 16. December 2014, 06:24 (SleepyHollow02)
Erstellt: 15. December 2014, 12:18 Graf Isolan
Fragment, Gesichtet, KeineWertung, Mmu, SMWFragment, Schutzlevel, Walters et al 2010

Typus
KeineWertung
Bearbeiter
Graf Isolan
Gesichtet
Yes.png
Untersuchte Arbeit:
Seite: 16, Zeilen: 18-25
Quelle: Walters et al 2010
Seite(n): 672, 673, Zeilen: 672:left col. 12-17; 673:left col. 25-30
Furthermore Walters et al; demonstrated that, in addition to the cognitive deficits or behavioural abnormalities, a 16p11.2 deletion give rise to a strongly-expressed obesity phenotype in adults, with a more variable phenotype in childhood (Walters 2011). The authors stated that the higher frequency of 16p11.2 deletions in the cohort ascertained for both phenotypes (2.9%), compared to cohorts ascertained for either phenotype alone (0.4% cognitive deficit and 0.6% obesity), confirms their impact on both obesity and developmental delay, adding to the evidence that these two phenotypes may be fundamentally interrelated.

84. Walters R. G. et al. A novel highly-penetrant form of obesity due to microdeletions on chromosome 16p11.2. Nature. 2010 February 4; 463(7281): 671–675

[Page 672]

Analysis of the available clinical data for these 22 new carriers indicated that, in addition to the ascertained cognitive deficits or behavioural abnormalities (including hyperphagia, specifically identified inat least nine cases; see Supplementary Table 1), a 16p11.2 deletion gave rise to a strongly expressed obesity phenotype in adults, with a more variable phenotype in childhood.

[Page 673]

The higher frequency of 16p11.2 deletions in the cohort ascertained for both phenotypes (2.9%), compared with cohorts ascertained for either phenotype alone (0.4% and 0.6%, respectively), confirms their impact on both obesity and developmental delay, adding to the evidence that these two phenotypes may be fundamentally interrelated.

Anmerkungen

Although the source is mentioned in the text, it is nowhere made clear that the whole passage contains of sentences which have been taken identically from various places in the original text.

Since this fragment can also be interpreted as Mmu not being able to correctly form sentences in indirect speech in English it is rated as "keine Wertung". Otherwise it would have been counted as a "pawn sacrifice". In any case, Mmu's contribution with regard to own content is negligible here.

The text preceding the passage from page 673 which is used here is presented by Mmu on page 87 of her work (see [Mmu/Fragment_087_22]).

Sichter
(Graf Isolan), SleepyHollow02

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