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The benefits and challenges of family genetic testing in rare genetic diseases-lessons from Fabry disease.
Germain DP, Moiseev S, Suárez-Obando F, Al Ismaili F, Al Khawaja H, Altarescu G, Barreto FC, Haddoum F, Hadipour F, Maksimova I, Kramis M, Nampoothiri S, Nguyen KN, Niu DM, Politei J, Ro LS, Vu Chi D, Chen N, Kutsev S. Germain DP, et al. Among authors: altarescu g. Mol Genet Genomic Med. 2021 May;9(5):e1666. doi: 10.1002/mgg3.1666. Epub 2021 Apr 9. Mol Genet Genomic Med. 2021. PMID: 33835733 Free PMC article. Review.
Aneuploidy in oocytes from women of advanced maternal age: analysis of the causal meiotic errors and impact on embryo development.
Verdyck P, Altarescu G, Santos-Ribeiro S, Vrettou C, Koehler U, Griesinger G, Goossens V, Magli C, Albanese C, Parriego M, Coll L, Ron-El R, Sermon K, Traeger-Synodinos J. Verdyck P, et al. Among authors: altarescu g. Hum Reprod. 2023 Dec 4;38(12):2526-2535. doi: 10.1093/humrep/dead201. Hum Reprod. 2023. PMID: 37814912 Clinical Trial.
Genetic polymorphisms of vitamin D receptor (VDR) in Fabry disease.
Teitcher M, Weinerman S, Whybra C, Beck M, Sharon N, Elstein D, Altarescu G. Teitcher M, et al. Among authors: altarescu g. Genetica. 2008 Nov;134(3):377-83. doi: 10.1007/s10709-008-9245-y. Epub 2008 Feb 16. Genetica. 2008. PMID: 18278558
Fabry disease in an oligosymptomatic male.
Altarescu G, Elstein D. Altarescu G, et al. Isr Med Assoc J. 2011 Mar;13(3):191-2. Isr Med Assoc J. 2011. PMID: 21608346 Free article. No abstract available.
130 results