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Angaben zur Quelle [Bearbeiten]

Autor     Valerie W. Hu, Anjene Addington, Alexander Hyman
Titel    Novel Autism Subtype-Dependent Genetic Variants Are Revealed by Quantitative Trait and Subphenotype Association Analyses of Published GWAS Data
Zeitschrift    PlosONE
Jahr    2011
DOI    10.1371/journal.pone.001906
URL    http://www.plosone.org/article/fetchObject.action?uri=info%3Adoi%2F10.1371%2Fjournal.pone.0019067&representation=PDF

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Fragmente der Quelle:
[1.] Mmu/Fragment 057 03 - Diskussion
Zuletzt bearbeitet: 2014-12-27 11:06:44 Hindemith
BauernOpfer, Fragment, Gesichtet, Hu et al 2011, Mmu, SMWFragment, Schutzlevel sysop

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Seite: 57, Zeilen: 3-10, 14-16
Quelle: Hu et al 2011
Seite(n): 1, Zeilen: left col., 1 ff.
Introduction

Autism spectrum disorders (ASDs) represent a group of neurodevelopmental disorders that are characterized by impaired reciprocal social interactions, delayed or aberrant communication, and stereotyped, repetitive behaviours, often with restricted interests (Hu 2011). The prevalence for these disorders is now estimated at 1% (Gillbert 1999, Forbonne 2003, Kogan 2009). With a concordance rate as high as 90% in monozygotic twins and 2-10% in dizygotic twin pairs (Folstein 2001), ASD is among the most heritable of neuropsychiatric conditions. [...] Thus a considerable amount of effort has been devoted to identifying genetic mutations or variants that associate with these disorders.


5. Folstein SE, Rosen-Sheidley B. 2001. Genetics of autism: Complex aaetiology for a heterogeneous disorder. Nat Rev Genet 2(12): 943–955.

6. Fombonne E. 2003. Epidemiological surveys of autism and other pervasive developmental disorders: An update. J Autism Dev Disord 33(4): 365–382.

9. Gillberg C, Wing L. 1999. Autism: Not an extremely rare disorder. Acta Psychiatr Scand 99(6): 399–406.

11. Hu VW, Addington A, Hyman A. Novel autism subtype-dependent genetic variants are revealed by quantitative trait and subphenotype association analyses of published GWAS data. PLoS One. 2011 Apr 27;6(4):e19067.

Introduction

Autism spectrum disorders (ASDs) represent a group of neurodevelopmental disorders that are characterized by impaired reciprocal social interactions, delayed or aberrant communication, and stereotyped, repetitive behaviors, often with restricted interests [1,2]. With a concordance rate as high as 90% based on twin studies [3], ASDs are among the most heritable of neuropsychiatric conditions. [...] Thus, a considerable amount of effort has been devoted to identifying genetic mutations or variants that associate with these perplexing and often devastating, life-long disorders.


1. American Psychological Association (1994) Diagnostic and statistical manual of mental disorders. Washington, DC: American Psychological Association.

2. Volkmar FR (1991) DSM-IV in progress. autism and the pervasive developmental disorders. Hosp Community Psychiatry 42(1): 33–5.

3. Bailey A, Le Couteur A, Gottesman I, Bolton P, Simonoff E, et al. (1995) Autism as a strongly genetic disorder: Evidence from a british twin study. Psychol Med 25(1): 63–77.

4. Feng Y, Zhang F, Lokey LK, Chastain JL, Lakkis L, et al. (1995) Translational suppression by trinucleotide repeat expansion at FMR1. Science 268(5211): 731–4.

5. Amir RE, Van den Veyver IB, Wan M, Tran CQ, Francke U, et al. (1999) Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpGbinding protein 2. Nat Genet 23(2): 185–8.

6. Kim SJ, Cook EH, Jr. (2000) Novel de novo nonsense mutation of MECP2 in a patient with rett syndrome. Hum Mutat 15(4): 382–3.

7. Smalley SL, Burger F, Smith M (1994) Phenotypic variation of tuberous sclerosis in a single extended kindred. J Med Genet 31(10): 761–765.

8. Zhou CY, Wu KY, Leversha MA, Furlong RA, Ferguson-Smith MA, et al. (1995) Physical analysis of the tuberous sclerosis region in 9q34. Genomics 25(1): 304–308.

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