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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 057 03 - Diskussion
Zuletzt bearbeitet: 2014-12-27 11:06:44 Hindemith
BauernOpfer, Fragment, Gesichtet, Hu et al 2011, Mmu, SMWFragment, Schutzlevel sysop

Typus
BauernOpfer
Bearbeiter
SleepyHollow02
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Untersuchte Arbeit:
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.

Anmerkungen

The source is given, but nothing is marked as a literal quotation. The copied text continues after the reference.

Sichter
(SleepyHollow02), Hindemith

[2.] Mmu/Fragment 057 17 - Diskussion
Zuletzt bearbeitet: 2014-11-19 09:52:00 Singulus
Bremer et al 2010, Fragment, Gesichtet, KomplettPlagiat, Mmu, SMWFragment, Schutzlevel sysop

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Untersuchte Arbeit:
Seite: 57, Zeilen: 17-24
Quelle: Bremer et al 2010
Seite(n): 116, Zeilen: left col 37-47
Until recently, karyotyping has been the standard method for the detection of cytogenetic aberrations in patients with developmental disorders. The development of whole-genome screening methodologies for the detection of CNVs, such as array-CGH, provides a much higher resolution than karyotyping leading to the identification of novel microdeletion and microduplication syndromes, such as deletions and duplications in chromosome band 15q13.2q13.3, 16p11.2, and 17p11.2, often associated with an autism phenotype (Ballif et al., 2007; Potocki et al., 2007; Weiss et al., 2008; Miller et al., 2009).

3. Ballif BC, Hornor SA, Jenkins E, Madan-Khetarpal S, Surti U, Jackson KE, Asamoah A, Brock PL, Gowans GC, Conway RL, et al. 2007. Discovery of a previously unrecognized microdeletion syndrome of 16p11.2-p12.2. Nat Genet 39(9): 1071–1073.

16. Miller DT, Shen Y, Weiss LA, Korn J, Anselm I, Bridgemohan C, Cox GF, Dickinson H, Gentile J, Harris DJ, et al. 2009. Microdeletion/duplication at 15q13.2q13.3 among individuals with features of autism and other neuropsychiatric disorders. J Med Genet 46(4): 242–248.

18. Potocki L, Bi W, Treadwell-Deering D, Carvalho CM, Eifert A, Friedman EM, Glaze D, Krull K, Lee JA, Lewis RA, et al. 2007. Characterization of Potocki-Lupski syndrome (dup(17)(p11.2p11.2)) and delineation of a dosage-sensitive critical interval that can convey an autism phenotype. Am J Hum Genet 80(4): 633–649.

26. Weiss LA, Shen Y, Korn JM, Arking DE, Miller DT, Fossdal R, Saemundsen E, Stefansson H, Ferreira MA, Green T, et al. 2008. Association between microdeletion and microduplication at 16p11.2 and autism. N Engl J Med 358(7): 667–675.

Until recently, karyotyping has been the standard method for the detection of cytogenetic aberrations in patients with developmental disorders. The development of whole-genome screening methodologies for the detection of CNVs, such as array-based comparative genomic hybridization (array-CGH), provides a much higher resolution than karyotyping leading to the identification of novel microdeletion- and microduplication syndromes, such as deletions and duplications in chromosome band 15q13.2q13.3, 16p11.2, and 17p11.2, often associated with an autism phenotype [Ballif et al., 2007; Potocki et al., 2007; Weiss et al., 2008; Miller et al., 2009].

Ballif BC, Hornor SA, Jenkins E, Madan-Khetarpal S, Surti U, Jackson KE, Asamoah A, Brock PL, Gowans GC, Conway RL, et al. 2007. Discovery of a previously unrecognized microdeletion syndrome of 16p11.2-p12.2. Nat Genet 39(9):1071–1073.

Miller DT, Shen Y, Weiss LA, Korn J, Anselm I, Bridgemohan C, Cox GF, Dickinson H, Gentile J, Harris DJ, et al. 2009. Microdeletion/duplication at 15q13.2q13.3 among individuals with features of autism and other neuropsychiatric disorders. J Med Genet 46(4):242–248

Potocki L, Bi W, Treadwell-Deering D, Carvalho CM, Eifert A, Friedman EM, Glaze D, Krull K, Lee JA, Lewis RA, et al. 2007. Characterization of Potocki-Lupski syndrome (dup(17)(p11.2p11.2)) and delineation of a dosage-sensitive critical interval that can convey an autism phenotype. Am J Hum Genet 80(4):633–649.

Weiss LA, Shen Y, Korn JM, Arking DE, Miller DT, Fossdal R, Saemundsen E, Stefansson H, Ferreira MA, Green T, et al. 2008. Association between microdeletion and microduplication at 16p11.2 and autism. N Engl J Med 358(7):667–675.

Anmerkungen

Nothing has been marked as a citation; the source is not given.

Though the source has a number of co-authors, M. M. is not one of them. In fact, Bremer et al 2010 presents results from a Stockholm (Sweden) based research team.

Sichter
(Graf Isolan), Hindemith


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