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Page 1
Methylomic profiling in trisomy 21 identifies cognition- and Alzheimer's disease-related dysregulation.
Haertle L, Müller T, Lardenoije R, Maierhofer A, Dittrich M, Riemens RJM, Stora S, Roche M, Leber M, Riedel-Heller S, Wagner M, Scherer M, Ravel A, Mircher C, Cieuta-Walti C, Durand S, van de Hove DLA, Hoffmann P, Ramirez A, Haaf T, El Hajj N, Mégarbané A. Haertle L, et al. Among authors: stora s. Clin Epigenetics. 2019 Dec 16;11(1):195. doi: 10.1186/s13148-019-0787-x. Clin Epigenetics. 2019. PMID: 31843015 Free PMC article.
Transcriptomic study in women with trisomy 21 identifies a possible role of the GTPases of the immunity-associated proteins (GIMAP) in the protection of breast cancer.
Mégarbané A, Piquemal D, Rebillat AS, Stora S, Pierrat F, Bruno R, Noguier F, Mircher C, Ravel A, Vilaire-Meunier M, Durand S, Lefranc G. Mégarbané A, et al. Among authors: stora s. Sci Rep. 2020 Jun 10;10(1):9447. doi: 10.1038/s41598-020-66469-w. Sci Rep. 2020. PMID: 32523132 Free PMC article.
The intellectual disability of trisomy 21: differences in gene expression in a case series of patients with lower and higher IQ.
Mégarbané A, Noguier F, Stora S, Manchon L, Mircher C, Bruno R, Dorison N, Pierrat F, Rethoré MO, Trentin B, Ravel A, Morent M, Lefranc G, Piquemal D. Mégarbané A, et al. Among authors: stora s. Eur J Hum Genet. 2013 Nov;21(11):1253-9. doi: 10.1038/ejhg.2013.24. Epub 2013 Feb 20. Eur J Hum Genet. 2013. PMID: 23422941 Free PMC article.
Thyroid hormone and folinic acid in young children with Down syndrome: the phase 3 ACTHYF trial.
Mircher C, Sacco S, Bouis C, Gallard J, Pichot A, Le Galloudec E, Cieuta C, Marey I, Greiner-Mahler O, Dorison N, Gambarini A, Stora S, Durand S, Polak M, Baruchel A, Schlumberger E, Dewailly J, Azar-Kolakez A, Guéant-Rodriguez RM, Guéant JL, Borderie D, Bonnefont-Rousselot D, Blondiaux E, Ravel A, Sturtz FG. Mircher C, et al. Among authors: stora s. Genet Med. 2020 Jan;22(1):44-52. doi: 10.1038/s41436-019-0597-8. Epub 2019 Jul 8. Genet Med. 2020. PMID: 31281181 Free article. Clinical Trial.
Homozygous mutation in ELMO2 may cause Ramon syndrome.
Mehawej C, Hoischen A, Farah RA, Marey I, David M, Stora S, Lachlan K, Brunner HG, Mégarbané A. Mehawej C, et al. Among authors: stora s. Clin Genet. 2018 Mar;93(3):703-706. doi: 10.1111/cge.13166. Epub 2018 Jan 25. Clin Genet. 2018. PMID: 29095483
A novel PDE6D mutation in a patient with Joubert syndrome type 22 (JBTS22).
Mégarbané A, Hmaimess G, Bizzari S, El-Bazzal L, Al-Ali MT, Stora S, Delague V, El-Hayek S. Mégarbané A, et al. Among authors: stora s. Eur J Med Genet. 2019 Nov;62(11):103576. doi: 10.1016/j.ejmg.2018.11.010. Epub 2018 Nov 10. Eur J Med Genet. 2019. PMID: 30423442
21 results