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Systematic documentation and analysis of human genetic variation in hemoglobinopathies using the microattribution approach.
Giardine B, Borg J, Higgs DR, Peterson KR, Philipsen S, Maglott D, Singleton BK, Anstee DJ, Basak AN, Clark B, Costa FC, Faustino P, Fedosyuk H, Felice AE, Francina A, Galanello R, Gallivan MV, Georgitsi M, Gibbons RJ, Giordano PC, Harteveld CL, Hoyer JD, Jarvis M, Joly P, Kanavakis E, Kollia P, Menzel S, Miller W, Moradkhani K, Old J, Papachatzopoulou A, Papadakis MN, Papadopoulos P, Pavlovic S, Perseu L, Radmilovic M, Riemer C, Satta S, Schrijver I, Stojiljkovic M, Thein SL, Traeger-Synodinos J, Tully R, Wada T, Waye JS, Wiemann C, Zukic B, Chui DH, Wajcman H, Hardison RC, Patrinos GP. Giardine B, et al. Among authors: kollia p. Nat Genet. 2011 Mar 20;43(4):295-301. doi: 10.1038/ng.785. Nat Genet. 2011. PMID: 21423179 Free PMC article.
Compound heterozygosity for the Cretan type of non-deletional hereditary persistence of fetal hemoglobin and beta-thalassemia or Hb Sabine confirms the functional role of the Agamma -158 C>T mutation in gamma-globin gene transcription.
Kollia P, Kalamaras A, Chassanidis C, Samara M, Vamvakopoulos NK, Radmilovic M, Pavlovic S, Papadakis MN, Patrinos GP. Kollia P, et al. Blood Cells Mol Dis. 2008 Nov-Dec;41(3):263-4. doi: 10.1016/j.bcmd.2008.05.009. Epub 2008 Aug 20. Blood Cells Mol Dis. 2008. PMID: 18718799 No abstract available.
The Hellenic type of nondeletional hereditary persistence of fetal hemoglobin results from a novel mutation (g.-109G>T) in the HBG2 gene promoter.
Chassanidis C, Kalamaras A, Phylactides M, Pourfarzad F, Likousi S, Maroulis V, Papadakis MN, Vamvakopoulos NK, Aleporou-Marinou V, Patrinos GP, Kollia P. Chassanidis C, et al. Among authors: kollia p. Ann Hematol. 2009 Jun;88(6):549-55. doi: 10.1007/s00277-008-0643-0. Epub 2008 Dec 3. Ann Hematol. 2009. PMID: 19050890 Free PMC article.
112 results