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Page 1
Diagnostic exome sequencing to elucidate the genetic basis of likely recessive disorders in consanguineous families.
Makrythanasis P, Nelis M, Santoni FA, Guipponi M, Vannier A, Béna F, Gimelli S, Stathaki E, Temtamy S, Mégarbané A, Masri A, Aglan MS, Zaki MS, Bottani A, Fokstuen S, Gwanmesia L, Aliferis K, Bustamante Eduardo M, Stamoulis G, Psoni S, Kitsiou-Tzeli S, Fryssira H, Kanavakis E, Al-Allawi N, Sefiani A, Al Hait S, Elalaoui SC, Jalkh N, Al-Gazali L, Al-Jasmi F, Bouhamed HC, Abdalla E, Cooper DN, Hamamy H, Antonarakis SE. Makrythanasis P, et al. Among authors: stathaki e. Hum Mutat. 2014 Oct;35(10):1203-10. doi: 10.1002/humu.22617. Epub 2014 Aug 18. Hum Mutat. 2014. PMID: 25044680
DNA methylation profiles of human active and inactive X chromosomes.
Sharp AJ, Stathaki E, Migliavacca E, Brahmachary M, Montgomery SB, Dupre Y, Antonarakis SE. Sharp AJ, et al. Among authors: stathaki e. Genome Res. 2011 Oct;21(10):1592-600. doi: 10.1101/gr.112680.110. Epub 2011 Aug 23. Genome Res. 2011. PMID: 21862626 Free PMC article.
Brief report: isogenic induced pluripotent stem cell lines from an adult with mosaic down syndrome model accelerated neuronal ageing and neurodegeneration.
Murray A, Letourneau A, Canzonetta C, Stathaki E, Gimelli S, Sloan-Bena F, Abrehart R, Goh P, Lim S, Baldo C, Dagna-Bricarelli F, Hannan S, Mortensen M, Ballard D, Syndercombe Court D, Fusaki N, Hasegawa M, Smart TG, Bishop C, Antonarakis SE, Groet J, Nizetic D. Murray A, et al. Among authors: stathaki e. Stem Cells. 2015 Jun;33(6):2077-84. doi: 10.1002/stem.1968. Stem Cells. 2015. PMID: 25694335 Free PMC article.
Methylation profiling in individuals with uniparental disomy identifies novel differentially methylated regions on chromosome 15.
Sharp AJ, Migliavacca E, Dupre Y, Stathaki E, Sailani MR, Baumer A, Schinzel A, Mackay DJ, Robinson DO, Cobellis G, Cobellis L, Brunner HG, Steiner B, Antonarakis SE. Sharp AJ, et al. Among authors: stathaki e. Genome Res. 2010 Sep;20(9):1271-8. doi: 10.1101/gr.108597.110. Epub 2010 Jul 14. Genome Res. 2010. PMID: 20631049 Free PMC article.
Decreased neural precursor cell pool in NADPH oxidase 2-deficiency: From mouse brain to neural differentiation of patient derived iPSC.
Nayernia Z, Colaianna M, Robledinos-Antón N, Gutzwiller E, Sloan-Béna F, Stathaki E, Hibaoui Y, Cuadrado A, Hescheler J, Stasia MJ, Saric T, Jaquet V, Krause KH. Nayernia Z, et al. Among authors: stathaki e. Redox Biol. 2017 Oct;13:82-93. doi: 10.1016/j.redox.2017.04.026. Epub 2017 Apr 24. Redox Biol. 2017. PMID: 28575744 Free PMC article.
Immunodeficiency and Lymphoma in Jacobsen Syndrome.
Nigolian H, Nieke JP, Chevallier M, Stathaki E, Sloan-Béna F, Carminho-Rodrigues MT, Jandus P. Nigolian H, et al. Among authors: stathaki e. J Investig Allergol Clin Immunol. 2022 Oct 11;32(5):408-409. doi: 10.18176/jiaci.0777. Epub 2022 Jan 14. J Investig Allergol Clin Immunol. 2022. PMID: 35029149 Free article. No abstract available.
Bi-allelic loss of ERGIC1 causes relatively mild arthrogryposis.
Marconi C, Lemmens L, Masclaux F, Mattioli F, Fluss J, Extermann P, Mendez P, Leuchter RH, Stathaki E, Laurent S, Hammar E, Vannier A, Varvagiannis K, Guipponi M, Sloan-Bena F, Blouin JL, Abramowicz M, Fokstuen S. Marconi C, et al. Among authors: stathaki e. Clin Genet. 2021 Sep;100(3):329-333. doi: 10.1111/cge.14004. Epub 2021 Jun 14. Clin Genet. 2021. PMID: 34037256 Free PMC article.
Experience of a multidisciplinary task force with exome sequencing for Mendelian disorders.
Fokstuen S, Makrythanasis P, Hammar E, Guipponi M, Ranza E, Varvagiannis K, Santoni FA, Albarca-Aguilera M, Poleggi ME, Couchepin F, Brockmann C, Mauron A, Hurst SA, Moret C, Gehrig C, Vannier A, Bevillard J, Araud T, Gimelli S, Stathaki E, Paoloni-Giacobino A, Bottani A, Sloan-Béna F, Sizonenko LD, Mostafavi M, Hamamy H, Nouspikel T, Blouin JL, Antonarakis SE. Fokstuen S, et al. Among authors: stathaki e. Hum Genomics. 2016 Jun 28;10(1):24. doi: 10.1186/s40246-016-0080-4. Hum Genomics. 2016. PMID: 27353043 Free PMC article. Review.