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Autor     Kyle M. Walsh, Michael B. Bracken
Titel    Copy number variation in the dosage-sensitive 16p11.2 interval accounts for only a small proportion of autism incidence: A systematic review and meta-analysis
Zeitschrift    Genetics in Medicine
Ausgabe    13
Datum    May 2011
Nummer    5
Seiten    377–384
DOI    10.1097/GIM.0b013e3182076c0c
URL    http://www.nature.com/gim/journal/v13/n5/pdf/gim9201166a.pdf

Literaturverz.   

yes
Fußnoten    yes
Fragmente    2


Fragmente der Quelle:
[1.] Mmu/Fragment 086 25 - Diskussion
Zuletzt bearbeitet: 2014-11-19 19:46:08 Singulus
BauernOpfer, Fragment, Gesichtet, Mmu, SMWFragment, Schutzlevel sysop, Walsh and Bracken 2011

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BauernOpfer
Bearbeiter
Hindemith
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Untersuchte Arbeit:
Seite: 86, Zeilen: 25-31
Quelle: Walsh and Bracken 2011
Seite(n): 377, Zeilen: l.col: 26 ff.
Autism spectrum disorders (ASDs), typically apparent by the age of 3 years, encompass a broad range of developmental disorders that are marked by limitations in one of three behavioural/developmental domains: social interaction; language, communication, and imaginative play; and range of interest and activities (Muhle 2004). The ASDs range from phenotypically mild to severe and include autism, atypical autism, Asperger syndrome, and pervasive developmental disorders. The heritability of autism may as high as 90%, making it one of the most heritable [complex disorders.]

55.Muhle R, Trentacoste SV, Rapin I. The genetics of autism. Pediatrics 2004;113:e472– e486.

Autism spectrum disorders (ASDs) encompass a broad range of developmental disorders that are marked by limitations in one of three behavioral/developmental domains: (1) social interaction; (2) language, communication, and imaginative play; and (3) range of interests and activities.1 The ASDs range from phenotypically mild to severe and include autism, atypical autism, Asperger syndrome, Rett syndrome, and pervasive developmental disorders.2 [...]

[...] Results of twin and family studies have shown that the heritability of autism may be as high as 90%, making it one of the most heritable complex disorders.6


1. Muhle R, Trentacoste SV, Rapin I. The genetics of autism. Pediatrics 2004;113:e472– e486.

2. Sykes NH, Lamb JA. Autism: the quest for the genes. Expert Rev Mol Med 2007;9:1–15.

6. Freitag CM. The genetics of autistic disorders and its clinical relevance: a review of the literature. Mol Psychiatry 2007;12:2–22.

Anmerkungen

The source is given at the end of the paragraph on the following page. The reader cannot assume, however, that also this passage is taken from the source including the reference to Muhle et al. (2004).

Continued on the following page: Mmu/Fragment 087 03

Sichter
(Hindemith), SleepyHollow02

[2.] Mmu/Fragment 087 03 - Diskussion
Zuletzt bearbeitet: 2014-12-14 22:31:23 Graf Isolan
BauernOpfer, Fragment, Gesichtet, Mmu, SMWFragment, Schutzlevel sysop, Walsh and Bracken 2011

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Untersuchte Arbeit:
Seite: 87, Zeilen: 3-19
Quelle: Walsh and Bracken 2011
Seite(n): 377, 380, 381, Zeilen: 377: r.col: 7 ff.; 380: l.col: 21 ff.; 381: r.col: 7 ff.
The first theory, referred as the “common gene/common disease” hypothesis, is that common diseases result from the additive or multiplicative effects of genetic and environmental factors. Common genetic variants confer only a small increased risk to a given individual, but because of the high frequency with which these variants are found, each has a large attributable risk among the population (Weiss 2009). An alternative to the “common gene/common disease” hypothesis is that ASDs are caused not only by common variants of small effect but also by rare highly penetrant variants such as chromosomal deletions and duplications (Kusenda 2008). A substantial proportion of idiopathic autism may be attributable to CNVs. Two recent studies detected de novo CNVs in 7–10% of autistic cases from simplex families, 2–3% of cases from multiplex families, and in 1% of controls (Marshall 2008). These results not only implicate CNVs in the aetiology of autism but also indicate that different genetic mechanisms may underlie sporadic, versus familial, autism. Microdeletions and microduplications of chromosome 16p11.2 have been found at varying frequencies among individuals diagnosed with ASDs. Microdeletions are a more common cause of ASDs than the reciprocal microduplication (0.50% vs. 28%, respectively) (Walsh 2011).

39. Kusenda M & Sebat J. The role of rare structural variants in the genetics of autism spectrum disorders. Cytogenet Genome Res 2008;123:36–43.

48.Marshall CR, et al. Structural variation of chromosomes in autism spectrum disorder. Am J Hum Genet 2008;82:477– 488.

83.Walsh KM & Bracken MB. Copy number variation in the dosage-sensitive 16p11.2 interval accounts for only a small proportion of autism incidence: a systematic review and meta-analysis. Genet Med. 2011 May;13(5):377-84.

85.Weiss LA, et al. A genome-wide linkage and association scan reveals novel loci for autism. Nature 2009;461:802– 808.

Microdeletions and microduplications of chromosome 16p11.2 have been found at varying frequencies among individuals diagnosed with an ASD.

[page 380]

The prevailing hypothesis for the genetic etiology of autism has largely been the same as that for other common diseases and is widely referred to as the “common gene/common disease” hypothesis. The theory is that common diseases result from the additive or multiplicative effects of genetic and environmental factors. Under this paradigm, common genetic variants confer only a small increased risk to a given individual, but because of the high frequency with which these variants are found, each has a large attributable risk among the population. This hypothesis is readily tested using genome-wide association studies, and such studies have had some successes in unraveling autism biology.31–33

An alternative to the “common gene/common disease” hypothesis is that ASDs are caused not only by common variants of small effect but also by rare highly penetrant variants such as chromosomal deletions and duplications.34 [...]

A substantial proportion of idiopathic autism may be attributable to CNVs.34 Two recent studies detected de novo CNVs in 7–10% of autistic cases from simplex families, 2–3% of cases from multiplex families, and in 1% of controls.16,18 These results not only implicate CNVs in the etiology of autism but also indicate that different genetic mechanisms may underlie sporadic, versus familial, autism.

[page 381]

[...] microdeletions are a more common cause of ASDs than the reciprocal microduplication (0.50% vs. 28%, respectively).


16. Marshall CR, Noor A, Vincent JB, et al. Structural variation of chromosomes in autism spectrum disorder. Am J Hum Genet 2008;82:477– 488.

18. Sebat J, Lakshmi B, Malhotra D, et al. Strong association of de novo copy number mutations with autism. Science 2007;316:445– 449.

31. Weiss LA, Arking DE, Gene Discovery Project of Johns Hopkins, the Autism Consortium, Daly MJ, Chakravarti A. A genome-wide linkage and association scan reveals novel loci for autism. Nature 2009;461:802– 808.

32. Ma D, Salyakina D, Jaworski JM, et al. A genome-wide association study of autism reveals a common novel risk locus at 5p14.1. Ann Hum Genet 2009;73(Pt 3):263–273.

33. Autism Genome Project Consortium, Szatmari P, Paterson AD, et al. Mapping autism risk loci using genetic linkage and chromosomal rearrangements. Nat Genet 2007;39:319 –328.

34. Kusenda M, Sebat J. The role of rare structural variants in the genetics of autism spectrum disorders. Cytogenet Genome Res 2008;123:36–43.

Anmerkungen

The source is mentioned at the end, but the reader cannot know that also the passages referenced with other literature are taken from the source.

Sichter
(Hindemith), SleepyHollow02

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