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A new gene associated with a β-thalassemia phenotype: the observation of variants in SUPT5H.
Achour A, Koopmann T, Castel R, Santen GWE, den Hollander N, Knijnenburg J, Ruivenkamp CAL, Arkesteijn SGJ, Ter Huurne J, Bisoen S, Verschuren M, Vijfhuizen L, Schaap R, Grimbergen A, Slomp J, Traeger-Synodinos J, Vrettou C, Pissard S, Galacteros F, Baas F, Harteveld CL. Achour A, et al. Blood. 2020 Oct 8;136(15):1789-1793. doi: 10.1182/blood.2020005934. Blood. 2020. PMID: 32589702 Free article. No abstract available.
The hemoglobinopathies, molecular disease mechanisms and diagnostics.
Harteveld CL, Achour A, Arkesteijn SJG, Ter Huurne J, Verschuren M, Bhagwandien-Bisoen S, Schaap R, Vijfhuizen L, El Idrissi H, Koopmann TT. Harteveld CL, et al. Among authors: achour a. Int J Lab Hematol. 2022 Sep;44 Suppl 1(Suppl 1):28-36. doi: 10.1111/ijlh.13885. Int J Lab Hematol. 2022. PMID: 36074711 Free PMC article. Review.
Molecular autopsy and clinical family screening in a case of sudden cardiac death reveals ACTN2 mutation related to hypertrophic/dilated cardiomyopathy and a novel LZTR1 variant associated with Noonan syndrome.
Kraoua L, Jaouadi H, Allouche M, Achour A, Kaouther H, Ahmed HB, Chaker L, Maazoul F, Ouarda F, Zaffran S, M'rad R. Kraoua L, et al. Among authors: achour a. Mol Genet Genomic Med. 2022 Jul;10(7):e1954. doi: 10.1002/mgg3.1954. Epub 2022 Jun 3. Mol Genet Genomic Med. 2022. PMID: 35656879 Free PMC article.
Constitutional mismatch repair deficiency syndrome with atypical features caused by a homozygous MLH1 missense variant (c.1918C>A, p.(Pro640Thr)): a case report.
Akrout F, Achour A, Tops CMJ, Gallon R, Meddeb R, Achoura S, Ben Rekaya M, Hamdeni E, Rammeh S, Chkili R, Mansouri N, Belguith N, Mrad R. Akrout F, et al. Among authors: achour a. Front Oncol. 2023 Aug 17;13:1195814. doi: 10.3389/fonc.2023.1195814. eCollection 2023. Front Oncol. 2023. PMID: 37664053 Free PMC article.
433 results