Sloan-Béna F - Search Results

1

Karyotypic Flexibility of the Complex Cancer Genome and the Role of Polyploidization in Maintenance of Structural Integrity of Cancer Chromosomes.

Raftopoulou C, Roumelioti FM, Dragona E, Gimelli S, Sloan-Béna F, Gorgoulis V, Antonarakis SE, Gagos S. Raftopoulou C, et al. Among authors: sloan bena f. Cancers (Basel). 2020 Mar 5;12(3):591. doi: 10.3390/cancers12030591. Cancers (Basel). 2020. PMID: 32150835 Free PMC article.

2

Single cell transcriptome in aneuploidies reveals mechanisms of gene dosage imbalance.

Stamoulis G, Garieri M, Makrythanasis P, Letourneau A, Guipponi M, Panousis N, Sloan-Béna F, Falconnet E, Ribaux P, Borel C, Santoni F, Antonarakis SE. Stamoulis G, et al. Nat Commun. 2019 Oct 3;10(1):4495. doi: 10.1038/s41467-019-12273-8. Nat Commun. 2019. PMID: 31582743 Free PMC article.

3

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. Hum Genomics. 2016 Jun 28;10(1):24. doi: 10.1186/s40246-016-0080-4. Hum Genomics. 2016. PMID: 27353043 Free PMC article. Review.

4

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. Stem Cells. 2015 Jun;33(6):2077-84. doi: 10.1002/stem.1968. Stem Cells. 2015. PMID: 25694335 Free PMC article.

5

Novel NEXMIF pathogenic variant in a boy with severe autistic features, intellectual disability, and epilepsy, and his mildly affected mother.

Lambert N, Dauve C, Ranza E, Makrythanasis P, Santoni F, Sloan-Béna F, Gimelli S, Blouin JL, Guipponi M, Bottani A, Antonarakis SE, Kosel MM, Fluss J, Paoloni-Giacobino A. Lambert N, et al. J Hum Genet. 2018 Jul;63(7):847-850. doi: 10.1038/s10038-018-0459-2. Epub 2018 May 1. J Hum Genet. 2018. PMID: 29717186

6

No evidence for the presence of genetic variants predisposing to psychotic disorders on the non-deleted 22q11.2 allele of VCFS patients.

Guipponi M, Santoni F, Schneider M, Gehrig C, Bustillo XB, Kates WR, Morrow B, Armando M, Vicari S, Sloan-Béna F, Gagnebin M, Shashi V, Hooper SR, Eliez S, Antonarakis SE. Guipponi M, et al. Transl Psychiatry. 2017 Feb 21;7(2):e1039. doi: 10.1038/tp.2016.258. Transl Psychiatry. 2017. PMID: 28221368 Free PMC article.

7

Pretransplant HLA mistyping in diagnostic samples of acute myeloid leukemia patients due to acquired uniparental disomy.

Dubois V, Sloan-Béna F, Cesbron A, Hepkema BG, Gagne K, Gimelli S, Heim D, Tichelli A, Delaunay J, Drouet M, Jendly S, Villard J, Tiercy JM. Dubois V, et al. Leukemia. 2012 Sep;26(9):2079-85. doi: 10.1038/leu.2012.68. Epub 2012 Mar 14. Leukemia. 2012. PMID: 22488219

8

Generation of human induced pluripotent stem cell line UNIGEi003-A from skin fibroblasts of an apparently healthy male donor.

Cosset E, Vannary T, Sloan-Béna F, Gimelli S, Gerstel E, Krause KH, Marteyn A. Cosset E, et al. Among authors: sloan bena f. Stem Cell Res. 2020 Oct;48:101928. doi: 10.1016/j.scr.2020.101928. Epub 2020 Aug 3. Stem Cell Res. 2020. PMID: 32805538 Free article.

9

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. 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.

10

Challenges in clinical diagnosis of williams-beuren syndrome in sub-saharan africans: case reports from cameroon.

Tekendo-Ngongang C, Dahoun S, Nguefack S, Gimelli S, Sloan-Béna F, Wonkam A. Tekendo-Ngongang C, et al. Mol Syndromol. 2014 Dec;5(6):287-92. doi: 10.1159/000369421. Epub 2014 Nov 29. Mol Syndromol. 2014. PMID: 25565928 Free PMC article.

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