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Quelle: Girirajan and Eichler 2010 Seite(n): R182, Zeilen: left col. 31-36 |
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| [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. |
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