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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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Statistik und Sichtungsnachweis dieser Seite findet sich am Artikelende
[1.] Mmu/Fragment 034 01 - Diskussion
Zuletzt bearbeitet: 2014-12-22 15:35:33 Hindemith
Fragment, Gesichtet, Katzaki 2009, Mmu, SMWFragment, Schutzlevel sysop, Verschleierung

Typus
Verschleierung
Bearbeiter
Graf Isolan
Gesichtet
Yes.png
Untersuchte Arbeit:
Seite: 34, Zeilen: 1-4
Quelle: Katzaki 2009
Seite(n): 71, Zeilen: left col. 11-16
[At the] time of our examination Patient 2 had just begun to formulate sentences, always spoke to catch attention, displayed hyperactivity, and brought all objects to to her mouth. Patient 2’s mother exhibited isolated microcephaly (OFC 52 cm, <3rd percentile) and normal height (169 cm; 75-90th percentile). At the time of our examination she had just begun to formulate sentences, she was always speaking to catch attention, she showed hyperactivity and she used to bring everything to the mouth. Her mother showed isolated microcephaly (OFC 52 cm, <3rd percentile) and normal height (169 cm; 75-90th percentile).
Anmerkungen

Continued from previous page. Nothing has been marked as a citation.

The original text is part of an article which is included in Katzaki's thesis. The patient described here is obviously the same (albeit now several years older). Mmu was not one of the coauthors of the original article. There is no hint given that this description is not Mmu's own. Neither is there a hint given that this patient's genetic material has been analyzed in a different context before.

Sichter
(Graf Isolan), SleepyHollow02

[2.] Mmu/Fragment 034 12 - Diskussion
Zuletzt bearbeitet: 2016-02-07 14:56:21 Hindemith
Fragment, Gesichtet, Katzaki 2009, KomplettPlagiat, Mmu, SMWFragment, Schutzlevel sysop

Typus
KomplettPlagiat
Bearbeiter
Graf Isolan
Gesichtet
Yes.png
Untersuchte Arbeit:
Seite: 34, Zeilen: 12-23, 25-28
Quelle: Katzaki 2009
Seite(n): 71, Zeilen: left col. 18-34, 43-48
Multiplex Ligation-dependant Probe Amplification (MLPA) analysis

We used a distinct commercially available MLPA kit, the SALSA P036D subtelomeric primer set (MRC-Holland, Amsterdam, The Netherlands). This kit contains oligonucleotide primer sets specific for the amplification of selected loci in the subtelomeric regions of all chromosome arms, except for the acrocentric chromosomes 13, 14, 15, 21 and 22 that effectively lack a short arm. For the latter, the manufacturer has included in this kit primer sets specific for loci adjacent to the centromere in the long arm of the acrocentric chromosomes, referred to as the ‘acrocentric’ primer. This kit was previously validated in other laboratories (data not shown) on series of patients with known subtelomeric ultra conserved regions (UCRs) [29, 30]. The target loci of this kit represent known functional genes or protein coding sequences. Each experiment was carried out according to the manufacturer’s instructions.

Fluorescent in situ hybridization (FISH) analysis

Chromosomal preparations for the analysis were obtained according to standard techniques. FISH was performed with TelVision 9p and 17p probes (Vysis). Each experiment was carried out according to the manufacturer’s instructions.


[29] Ahn J W, Ogilvie C M, Welch A, Thomas H, Madula R, Hills A, Donaghue C, Mann K. (2007) Detection of subtelomere imbalance using MLPA: validation, development of an analysis protocol, and application in a diagnostic centre. BMC Med Genet 8:9

[30] Rooms L, Reyniers E, van Luijk R, Scheers S, Wauters J, Ceulemans B, Van Den Ende J, Van Bever Y, Kooy R F. (2004) Subtelomeric deletions detected in patients with idiopathic mental retardation using multiplex ligation-dependent probe amplification (MLPA). Hum Mutat 23:17-21

MATERIAL AND METHODS

Multiplex Ligation-dependant Probe Amplification (MLPA) analysis

We used a distinct commercially available MLPA kit, the SALSA P036D subtelomeric primer set (MRC-Holland, Amsterdam, The Netherlands). This kit contains oligonucleotide primer sets specific for the amplification of selected loci in the subtelomeric regions of all chromosome arms, except for the acrocentric chromosomes 13, 14, 15, 21 and 22 that effectively lack a short or p-arm. For the latter the manufacturer has included in this kit primer sets specific for loci adjacent to the centromere in the long arm of the acrocentric chromosomes, referred to as the ‘acrocentric’ primer. This kit was previously validated in other laboratories (data not shown) on series of patients with known subtelomeric UCRs [Ahn J et al. 2007, Kirchhoff et al. 2005, Rooms et al. 2004]. The target loci of this kit represent known functional genes or protein coding sequences.

[...]

FISH analysis

Chromosomal preparations for the analysis were obtained according to standard techniques. Fluorescent in situ hybridization (FISH) was performed with TelVision 9p and 17p probes (Vysis). Each experiment was carried out according to the manufacturer’s instructions.

Anmerkungen

Nothing has been marked as a citation.

The original text is part of an article which is included in Katzaki's thesis. Mmu was not one of the coauthors of this article. The references for Ahn J et al. 2007, Kirchhoff et al. 2005, Rooms et al. 2004 are all missing in Katzaki (2009).

Sichter
(Graf Isolan), SleepyHollow02


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