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Evaluation of in silico predictors on short nucleotide variants in HBA1, HBA2, and HBB associated with haemoglobinopathies.
Tamana S, Xenophontos M, Minaidou A, Stephanou C, Harteveld CL, Bento C, Traeger-Synodinos J, Fylaktou I, Yasin NM, Abdul Hamid FS, Esa E, Halim-Fikri H, Zilfalil BA, Kakouri AC; ClinGen Hemoglobinopathy Variant Curation Expert Panel; Kleanthous M, Kountouris P. Tamana S, et al. Elife. 2022 Dec 1;11:e79713. doi: 10.7554/eLife.79713. Elife. 2022. PMID: 36453528 Free PMC article.
Sertoli cell tumor and gonadoblastoma in an untreated 29-year-old 46,XY phenotypic male with Frasier syndrome carrying a WT1 IVS9+4C>T mutation.
Kitsiou-Tzeli S, Deligiorgi M, Malaktari-Skarantavou S, Vlachopoulos C, Megremis S, Fylaktou I, Traeger-Synodinos J, Kanaka-Gantenbein C, Stefanadis C, Kanavakis E. Kitsiou-Tzeli S, et al. Hormones (Athens). 2012 Jul-Sep;11(3):361-7. doi: 10.14310/horm.2002.1366. Hormones (Athens). 2012. PMID: 22908070 Free article.
EMQN Best Practice Guidelines for molecular and haematology methods for carrier identification and prenatal diagnosis of the haemoglobinopathies.
Traeger-Synodinos J, Harteveld CL, Old JM, Petrou M, Galanello R, Giordano P, Angastioniotis M, De la Salle B, Henderson S, May A; EMQN haemoglobinopathies best practice meeting. Traeger-Synodinos J, et al. Eur J Hum Genet. 2015 Apr;23(4):426-37. doi: 10.1038/ejhg.2014.131. Epub 2014 Jul 23. Eur J Hum Genet. 2015. PMID: 25052315 Free PMC article.
Adult-onset beta-thalassaemia intermedia caused by a 5-Mb somatic clonal segmental deletion in haemopoietic stem cells involving the β-globin locus.
Traeger-Synodinos J, Bosch CAJ, Vrettou C, Maragoudaki L, Apostolidis J, Kanavakis E, Kattamis C, Arkesteijn SGJ, Hoffer MJV, Ruivenkamp CAL, Harteveld CL. Traeger-Synodinos J, et al. Br J Haematol. 2019 Sep;186(6):e165-e170. doi: 10.1111/bjh.16043. Epub 2019 Jun 17. Br J Haematol. 2019. PMID: 31206601 Free article. No abstract available.
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. 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.
180 results