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The International Hemoglobinopathy Research Network (INHERENT): An international initiative to study the role of genetic modifiers in hemoglobinopathies.
Kountouris P, Stephanou C, Archer N, Bonifazi F, Giannuzzi V, Kuo KHM, Maggio A, Makani J, Mañú-Pereira MDM, Michailidou K, Nkya S, Nnodu OE, Trompeter S, Tshilolo L, Wonkam A, Zilfalil BA, Inusa BPD, Kleanthous M; on behalf of the International Hemoglobinopathy Research Network (INHERENT). Kountouris P, et al. Among authors: kleanthous m. Am J Hematol. 2021 Nov 1;96(11):E416-E420. doi: 10.1002/ajh.26323. Epub 2021 Aug 30. Am J Hematol. 2021. PMID: 34406671 Free PMC article. No abstract available.
Next generation sequencing of SNPs for non-invasive prenatal diagnosis: challenges and feasibility as illustrated by an application to β-thalassaemia.
Papasavva T, van Ijcken WF, Kockx CE, van den Hout MC, Kountouris P, Kythreotis L, Kalogirou E, Grosveld FG, Kleanthous M. Papasavva T, et al. Among authors: kleanthous m. Eur J Hum Genet. 2013 Dec;21(12):1403-10. doi: 10.1038/ejhg.2013.47. Epub 2013 Apr 10. Eur J Hum Genet. 2013. PMID: 23572027 Free PMC article.
Short-hairpin RNA against aberrant HBBIVSI-110(G>A) mRNA restores β-globin levels in a novel cell model and acts as mono- and combination therapy for β-thalassemia in primary hematopoietic stem cells.
Patsali P, Papasavva P, Stephanou C, Christou S, Sitarou M, Antoniou MN, Lederer CW, Kleanthous M. Patsali P, et al. Among authors: kleanthous m. Haematologica. 2018 Sep;103(9):e419-e423. doi: 10.3324/haematol.2018.189357. Epub 2018 Apr 26. Haematologica. 2018. PMID: 29700171 Free PMC article. No abstract available.
Newborn screening for sickle cell disease in Europe: recommendations from a Pan-European Consensus Conference.
Lobitz S, Telfer P, Cela E, Allaf B, Angastiniotis M, Backman Johansson C, Badens C, Bento C, Bouva MJ, Canatan D, Charlton M, Coppinger C, Daniel Y, de Montalembert M, Ducoroy P, Dulin E, Fingerhut R, Frömmel C, García-Morin M, Gulbis B, Holtkamp U, Inusa B, James J, Kleanthous M, Klein J, Kunz JB, Langabeer L, Lapouméroulie C, Marcao A, Marín Soria JL, McMahon C, Ohene-Frempong K, Périni JM, Piel FB, Russo G, Sainati L, Schmugge M, Streetly A, Tshilolo L, Turner C, Venturelli D, Vilarinho L, Yahyaoui R, Elion J, Colombatti R; with the endorsement of EuroBloodNet, the European Reference Network in Rare Haematological Diseases. Lobitz S, et al. Among authors: kleanthous m. Br J Haematol. 2018 Nov;183(4):648-660. doi: 10.1111/bjh.15600. Epub 2018 Oct 18. Br J Haematol. 2018. PMID: 30334577 Free article.
Adapting the ACMG/AMP variant classification framework: A perspective from the ClinGen Hemoglobinopathy Variant Curation Expert Panel.
Kountouris P, Stephanou C, Lederer CW, Traeger-Synodinos J, Bento C, Harteveld CL, Fylaktou E, Koopmann TT, Halim-Fikri H, Michailidou K, Nfonsam LE, Waye JS, Zilfalil BA, Kleanthous M; ClinGen Hemoglobinopathy Variant Curation Expert Panel. Kountouris P, et al. Among authors: kleanthous m. Hum Mutat. 2022 Aug;43(8):1089-1096. doi: 10.1002/humu.24280. Epub 2021 Sep 24. Hum Mutat. 2022. PMID: 34510646 Free PMC article.
108 results