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FSHD1 and FSHD2 form a disease continuum.
Sacconi S, Briand-Suleau A, Gros M, Baudoin C, Lemmers RJLF, Rondeau S, Lagha N, Nigumann P, Cambieri C, Puma A, Chapon F, Stojkovic T, Vial C, Bouhour F, Cao M, Pegoraro E, Petiot P, Behin A, Marc B, Eymard B, Echaniz-Laguna A, Laforet P, Salviati L, Jeanpierre M, Cristofari G, van der Maarel SM. Sacconi S, et al. Among authors: cristofari g. Neurology. 2019 May 7;92(19):e2273-e2285. doi: 10.1212/WNL.0000000000007456. Epub 2019 Apr 12. Neurology. 2019. PMID: 30979860 Free PMC article.
Inflammatory facioscapulohumeral muscular dystrophy type 2 in 18p deletion syndrome.
Renard D, Taieb G, Garibaldi M, Maues De Paula A, Bernard R, Lagha N, Cristofari G, Vovan C, Chaix C, Lévy N, Khau Van Kien P, Sacconi S. Renard D, et al. Among authors: cristofari g. Am J Med Genet A. 2018 Aug;176(8):1760-1763. doi: 10.1002/ajmg.a.38843. Epub 2018 Jul 28. Am J Med Genet A. 2018. PMID: 30055030
The Landscape of L1 Retrotransposons in the Human Genome Is Shaped by Pre-insertion Sequence Biases and Post-insertion Selection.
Sultana T, van Essen D, Siol O, Bailly-Bechet M, Philippe C, Zine El Aabidine A, Pioger L, Nigumann P, Saccani S, Andrau JC, Gilbert N, Cristofari G. Sultana T, et al. Among authors: cristofari g. Mol Cell. 2019 May 2;74(3):555-570.e7. doi: 10.1016/j.molcel.2019.02.036. Epub 2019 Apr 4. Mol Cell. 2019. PMID: 30956044 Free article.
Dismantling papillary renal cell carcinoma classification: The heterogeneity of genetic profiles suggests several independent diseases.
Marsaud A, Dadone B, Ambrosetti D, Baudoin C, Chamorey E, Rouleau E, Lefol C, Roussel JF, Fabas T, Cristofari G, Carpentier X, Michiels JF, Amiel J, Pedeutour F. Marsaud A, et al. Among authors: cristofari g. Genes Chromosomes Cancer. 2015 Jun;54(6):369-82. doi: 10.1002/gcc.22248. Epub 2015 Mar 28. Genes Chromosomes Cancer. 2015. PMID: 25820192
Meningeal SWI/SNF related, matrix-associated, actin-dependent regulator of chromatin, subfamily B member 1 (SMARCB1)-deficient tumours: an emerging group of meningeal tumours.
Dadone B, Fontaine D, Mondot L, Cristofari G, Jouvet A, Godfraind C, Varlet P, Ranchère-Vince D, Coindre JM, Gastaud L, Baudoin C, Peyron AC, Thyss A, Coutts M, Michiels JF, Pedeutour F, Burel-Vandenbos F; RENOP. Dadone B, et al. Among authors: cristofari g. Neuropathol Appl Neurobiol. 2017 Aug;43(5):433-449. doi: 10.1111/nan.12364. Epub 2016 Dec 28. Neuropathol Appl Neurobiol. 2017. PMID: 27732747
57 results