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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 086 03 - Diskussion
Zuletzt bearbeitet: 2014-11-19 19:42:59 Singulus
Fragment, Gesichtet, Mmu, SMWFragment, Schutzlevel sysop, Shchelochkov et al 2009, Verschleierung

Typus
Verschleierung
Bearbeiter
Hindemith
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Untersuchte Arbeit:
Seite: 86, Zeilen: 3-7
Quelle: Shchelochkov et al 2009
Seite(n): 1102, Zeilen: l.col: 35 ff.
Decreased expression resulting from a gene deletion causes a phenotype usually similar to that observed with loss-of-function point mutations of a ‘‘dosage-sensitive’’ gene. Increased expression, resulting from gene duplication may convey clinical findings that are different, and sometimes divergent from the deletion phenotype (Bi 2009). Decreased expression resulting from a gene deletion causes a phenotype usually similar to that observed with loss-of-function point mutations, for example, nonsense and frame-shift alleles for a ‘‘dosage-sensitive’’ gene. Increased expression of a dosage-sensitive gene resulting from a gene duplication may convey clinical findings which are different, and sometimes divergent from the deletion phenotype [Potocki et al., 2007; Girirajan et al., 2008; Bi et al., 2009].
Anmerkungen

The source is not mentioned.

Bi et al. (2009) does not contain the parallel text.

Sichter
(Hindemith), SleepyHollow02

[2.] 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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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


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