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Typus
KeineWertung
Bearbeiter
Graf Isolan
Gesichtet
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Untersuchte Arbeit:
Seite: 15, Zeilen: 25-30
Quelle: Capra et al 2012
Seite(n): 2, Zeilen: left col. 1-10
All the submicroscopic rearrangements reported until now, are variable in size and have distinct breakpoints. Bruno et al. proposed to divide 17p13.3 microduplications in two different classes: class I duplications involving YWHAE but not PAFAH1B1 showing a phenotype characterized by learning difficulties and/or autism with or without other congenital abnormalities; class II duplications always harboring PAFAH1B1 that may also [include the genomic region encompassing the CRK and YWHAE genes, which are associated with developmental delay, psychomotor delay and associated hypotonia.]

13. Bruno D.L. et al. Further molecular and clinical delineation of co-locating 17p13.3 microdeletions and microduplications that show distinctive phenotypes. J Med Genet 2010;47:299e311.

[All these submicroscopic rearrangements are] variable in size and have distinct breakpoints. Bruno et al. [5] proposed to divide 17p13.3 microduplications in two different classes: class I microduplications involving YWHAE but not PAFAH1B1 showing a phenotype characterized by learning difficulties and/or autism with or without other congenital abnormalities; class II microduplications always harboring PAFAH1B1 that may also include the genomic region encompassing the CRK and YWHAE genes, which are associated with developmental delay, psychomotor delay, and associated hypotonia.

5. Bruno DL, Anderlid BM, Lindstrand A, van Ravenswaaij-Arts C, Ganesamoorthy D, Lundin J, Martin CL, Douglas J, Nowak C, Adam MP, Kooy RF, Van der Aa N, Reyniers E, Vandeweyer G, Stolte-Dijkstra I, Dijkhuizen T, Yeung A, Delatycki M, Borgström B, Thelin L, Cardoso C, van Bon B, Pfundt R, de Vries BB, Wallin A, Amor DJ, James PA, Slater HR, Schoumans J: Further molecular and clinical delineation of co-locating 17p13.3 microdeletions and microduplications that show distinctive phenotypes. J Med Genet 2010, 47:299–311.

Anmerkungen

Not marked as a citation.

Although Capra et al (2012) was published in October 2012 and thus was beyond the deadline of the thesis of Mmu, there already existed a version of the article, where this passage could be found, before August 3rd (see the pre-publication history of Capra et al (2012) here). According to Mmu's CV (which can be found in the thesis), there was a "Three months attendance of the “Département de Médicine Génétique et Développement”, University of Geneva, Switzerland" in 2012, where one of the co-authors of Capra et al (2012) is seated. Thus there is a high probability that this article (or at least a preliminary version of it) was known to Mmu during the writing of her thesis.

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