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Angaben zur Quelle [Bearbeiten]

Autor     Santhosh Girirajan and Evan E. Eichler
Titel    Phenotypic variability and genetic susceptibility

to genomic disorders

Zeitschrift    Human Molecular Genetics
Jahr    2010
Seiten    R 176-R 187
URL    http://hmg.oxfordjournals.org/content/19/R2/R176.full.pdf+html

Literaturverz.   

yes
Fußnoten    yes
Fragmente    3


Fragmente der Quelle:
[1.] Mmu/Fragment 014 18 - Diskussion
Zuletzt bearbeitet: 2014-11-19 19:16:32 Singulus
Fragment, Gesichtet, Girirajan and Eichler 2010, KomplettPlagiat, Mmu, SMWFragment, Schutzlevel sysop

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Graf Isolan
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Untersuchte Arbeit:
Seite: 14, Zeilen: 18-22
Quelle: Girirajan and Eichler 2010
Seite(n): R180, Zeilen: 10 ff.
There are several explanations for variable expressivity and clinical heterogeneity in genomic disorders. First, the breakpoints of the events may not be identical. Atypical deletions and duplications involving contiguous dosage-sensitive genes within the region often explained the observed clinical variability in many genomic disorders. VARIABLE EXPRESSIVITY IN GENOMIC DISORDERS

There are several explanations for variable expressivity and clinical heterogeneity in genomic disorders (Fig. 3). First, the breakpoints of the events may not be identical. Atypical deletions and duplications involving contiguous dosage-sensitive genes within the region often explained the observed clinical variability in many genomic disorders.

Anmerkungen

Nothing has been marked as a citation. The source is not named.

Sichter
(Graf Isolan), SleepyHollow02

[2.] Mmu/Fragment 089 25 - Diskussion
Zuletzt bearbeitet: 2014-11-19 19:19:47 Singulus
Fragment, Gesichtet, Girirajan and Eichler 2010, KomplettPlagiat, Mmu, SMWFragment, Schutzlevel sysop

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Untersuchte Arbeit:
Seite: 89, Zeilen: 25-31
Quelle: Girirajan and Eichler 2010
Seite(n): R182, Zeilen: left col. 24-36
Recessive genes reside within the CNV regions, and the chances of finding a recessive mutation along with a microdeletion are rare (frequency of spontaneous mutation x frequency of the deletion event), but plausible. Profound sensorineural hearing loss has been reported in patients with Smith-Magenis syndrome whose deletions unmask the recessive mutation in the myosin (MYO15A) gene located within the 17p11.2 region (Liburd 2001). Functional polymorphisms within COMT and FXII, unmasked by hemizygous [deletions, have also been reported to result in cognitive decline and psychosis in patients with 22q11.2 deletion and reduced activity of coagulation factor 12 in Sotos syndrome respectively (Gothelf 2005, Kurotaki 2005).]

25. Gothelf, D. et al. (2005) COMT genotype predicts longitudinal cognitive decline and psychosis in 22q11.2 deletion syndrome. Nat. Neurosci., 8, 1500–1502.

38. Kurotaki N., et al. (2005) Phenotypic consequences of genetic variation at hemizygous alleles: Sotos syndrome is a contiguous gene syndrome incorporating coagulation factor twelve (FXII) deficiency. Genet. Med., 7, 479–483.

42. Liburd N., et al. (2001) Novel mutations of MYO15A associated with profound deafness in consanguineous families and moderately severe hearing loss in a patient with Smith–Magenis syndrome. Hum. Genet., 109, 535–541.

Furthermore, recessive genes reside within the CNV regions, and the chances of finding a recessive mutation along with a microdeletion are rare (frequency of spontaneous mutation x frequency of the deletion event), but plausible (Fig. 3). Profound sensorineural hearing loss has been reported in patients with Smith-Magenis syndrome whose deletions unmask the recessive mutations in the myosin (MYO15A) gene located within the 17p11.2 region (87). Functional polymorphisms within COMT and FXII, unmasked by hemizygous deletions, have also been reported to result in cognitive decline and psychosis in patients with del22q11.2 and reduced activity of coagulation factor 12 in Sotos syndrome, respectively (88,89).

87. Liburd, N., Ghosh, M., Riazuddin, S., Naz, S., Khan, S., Ahmed, Z., Riazuddin, S., Liang, Y., Menon, P.S., Smith, T. et al. (2001) Novel mutations of MYO15A associated with profound deafness in consanguineous families and moderately severe hearing loss in a patient with Smith–Magenis syndrome. Hum. Genet., 109, 535–541.

88. Gothelf, D., Eliez, S., Thompson, T., Hinard, C., Penniman, L., Feinstein, C., Kwon, H., Jin, S., Jo, B., Antonarakis, S.E. et al. (2005) COMT genotype predicts longitudinal cognitive decline and psychosis in 22q11.2 deletion syndrome. Nat. Neurosci., 8, 1500–1502.

89. Kurotaki, N., Shen, J.J., Touyama, M., Kondoh, T., Visser, R., Ozaki, T., Nishimoto, J., Shiihara, T., Uetake, K., Makita, Y. et al. (2005) Phenotypic consequences of genetic variation at hemizygous alleles: Sotos syndrome is a contiguous gene syndrome incorporating coagulation factor twelve (FXII) deficiency. Genet. Med., 7, 479–483.

Anmerkungen

Nothing has been marked as a citation.

Sichter
(Graf Isolan), SleepyHollow02

[3.] Mmu/Fragment 090 01 - Diskussion
Zuletzt bearbeitet: 2014-11-19 19:31:14 Singulus
Fragment, Gesichtet, Girirajan and Eichler 2010, KomplettPlagiat, Mmu, SMWFragment, Schutzlevel sysop

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Untersuchte Arbeit:
Seite: 90, Zeilen: 1-3
Quelle: Girirajan and Eichler 2010
Seite(n): R182, Zeilen: left col. 31-36
[Functional polymorphisms within COMT and FXII, unmasked by hemizygous] deletions, have also been reported to result in cognitive decline and psychosis in patients with 22q11.2 deletion and reduced activity of coagulation factor 12 in Sotos syndrome respectively (Gothelf 2005, Kurotaki 2005).]

25. Gothelf, D. et al. (2005) COMT genotype predicts longitudinal cognitive decline and psychosis in 22q11.2 deletion syndrome. Nat. Neurosci., 8, 1500–1502.

38. Kurotaki N., et al. (2005) Phenotypic consequences of genetic variation at hemizygous alleles: Sotos syndrome is a contiguous gene syndrome incorporating coagulation factor twelve (FXII) deficiency. Genet. Med., 7, 479–483.

Functional polymorphisms within COMT and FXII, unmasked by hemizygous deletions, have also been reported to result in cognitive decline and psychosis in patients with del22q11.2 and reduced activity of coagulation factor 12 in Sotos syndrome, respectively (88,89).

88. Gothelf, D., Eliez, S., Thompson, T., Hinard, C., Penniman, L., Feinstein, C., Kwon, H., Jin, S., Jo, B., Antonarakis, S.E. et al. (2005) COMT genotype predicts longitudinal cognitive decline and psychosis in 22q11.2 deletion syndrome. Nat. Neurosci., 8, 1500–1502.

89. Kurotaki, N., Shen, J.J., Touyama, M., Kondoh, T., Visser, R., Ozaki, T., Nishimoto, J., Shiihara, T., Uetake, K., Makita, Y. et al. (2005) Phenotypic consequences of genetic variation at hemizygous alleles: Sotos syndrome is a contiguous gene syndrome incorporating coagulation factor twelve (FXII) deficiency. Genet. Med., 7, 479–483.

Anmerkungen

Nothing has been marked as a citation.

Sichter
(Graf Isolan), SleepyHollow02

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