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115 results

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Page 1
Modelling and rescuing neurodevelopmental defect of Down syndrome using induced pluripotent stem cells from monozygotic twins discordant for trisomy 21.
Hibaoui Y, Grad I, Letourneau A, Sailani MR, Dahoun S, Santoni FA, Gimelli S, Guipponi M, Pelte MF, Béna F, Antonarakis SE, Feki A. Hibaoui Y, et al. Among authors: guipponi m. EMBO Mol Med. 2014 Feb;6(2):259-77. doi: 10.1002/emmm.201302848. Epub 2013 Dec 27. EMBO Mol Med. 2014. PMID: 24375627 Free PMC article.
Domains of genome-wide gene expression dysregulation in Down's syndrome.
Letourneau A, Santoni FA, Bonilla X, Sailani MR, Gonzalez D, Kind J, Chevalier C, Thurman R, Sandstrom RS, Hibaoui Y, Garieri M, Popadin K, Falconnet E, Gagnebin M, Gehrig C, Vannier A, Guipponi M, Farinelli L, Robyr D, Migliavacca E, Borel C, Deutsch S, Feki A, Stamatoyannopoulos JA, Herault Y, van Steensel B, Guigo R, Antonarakis SE. Letourneau A, et al. Among authors: guipponi m. Nature. 2014 Apr 17;508(7496):345-50. doi: 10.1038/nature13200. Nature. 2014. PMID: 24740065
Next generation diagnostics on cardiomyopathy.
Blouin JL, Bevillard J, Makrythanasis P, Guipponi M, Santoni F, Antonarakis SE, Fokstuen S. Blouin JL, et al. Among authors: guipponi m. Mol Cytogenet. 2014 Jan 21;7(Suppl 1 Proceedings of the International Conference on Human):I4. doi: 10.1186/1755-8166-7-S1-I4. eCollection 2014. Mol Cytogenet. 2014. PMID: 24949098 Free PMC article. No abstract available.
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: guipponi m. Hum Mutat. 2014 Oct;35(10):1203-10. doi: 10.1002/humu.22617. Epub 2014 Aug 18. Hum Mutat. 2014. PMID: 25044680
Extrachromosomal driver mutations in glioblastoma and low-grade glioma.
Nikolaev S, Santoni F, Garieri M, Makrythanasis P, Falconnet E, Guipponi M, Vannier A, Radovanovic I, Bena F, Forestier F, Schaller K, Dutoit V, Clement-Schatlo V, Dietrich PY, Antonarakis SE. Nikolaev S, et al. Among authors: guipponi m. Nat Commun. 2014 Dec 4;5:5690. doi: 10.1038/ncomms6690. Nat Commun. 2014. PMID: 25471132 Free PMC article.
HSA21 Single-Minded 2 (Sim2) Binding Sites Co-Localize with Super-Enhancers and Pioneer Transcription Factors in Pluripotent Mouse ES Cells.
Letourneau A, Cobellis G, Fort A, Santoni F, Garieri M, Falconnet E, Ribaux P, Vannier A, Guipponi M, Carninci P, Borel C, Antonarakis SE. Letourneau A, et al. Among authors: guipponi m. PLoS One. 2015 May 8;10(5):e0126475. doi: 10.1371/journal.pone.0126475. eCollection 2015. PLoS One. 2015. PMID: 25955728 Free PMC article.
115 results