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Page 1
Clinico-biological refinement of BCL11B-related disorder and identification of an episignature: A series of 20 unreported individuals.
Sabbagh Q, Haghshenas S, Piard J, Trouvé C, Amiel J, Attié-Bitach T, Balci T, Barat-Houari M, Belonis A, Boute O, Brightman DS, Bruel AL, Caraffi SG, Chatron N, Collet C, Dufour W, Edery P, Fong CT, Fusco C, Gatinois V, Gouy E, Guerrot AM, Heide S, Joshi A, Karp N, Keren B, Lesieur-Sebellin M, Levy J, Levy MA, Lozano C, Lyonnet S, Margot H, Marzin P, McConkey H, Michaud V, Nicolas G, Nizard M, Paulet A, Peluso F, Pernin V, Perrin L, Philippe C, Prasad C, Prasad M, Relator R, Rio M, Rondeau S, Ruault V, Ruiz-Pallares N, Sanchez E, Shears D, Siu VM, Sorlin A, Tedder M, Tharreau M, Mau-Them FT, van der Laan L, Van Gils J, Verloes A, Whalen S, Willems M, Yauy K, Zuntini R, Kerkhof J, Sadikovic B, Geneviève D. Sabbagh Q, et al. Among authors: caraffi sg. Genet Med. 2024 Jan;26(1):101007. doi: 10.1016/j.gim.2023.101007. Epub 2023 Oct 17. Genet Med. 2024. PMID: 37860968
NRF1 association with AUTS2-Polycomb mediates specific gene activation in the brain.
Liu S, Aldinger KA, Cheng CV, Kiyama T, Dave M, McNamara HK, Zhao W, Stafford JM, Descostes N, Lee P, Caraffi SG, Ivanovski I, Errichiello E, Zweier C, Zuffardi O, Schneider M, Papavasiliou AS, Perry MS, Humberson J, Cho MT, Weber A, Swale A, Badea TC, Mao CA, Garavelli L, Dobyns WB, Reinberg D. Liu S, et al. Among authors: caraffi sg. Mol Cell. 2021 Nov 18;81(22):4757. doi: 10.1016/j.molcel.2021.10.023. Mol Cell. 2021. PMID: 34798045 Free article. No abstract available.
Biomarkers of cancer angioprevention for clinical studies.
Albini A, Bertolini F, Bassani B, Bruno A, Gallo C, Caraffi SG, Maramotti S, Noonan DM. Albini A, et al. Among authors: caraffi sg. Ecancermedicalscience. 2015 Nov 24;9:600. doi: 10.3332/ecancer.2015.600. eCollection 2015. Ecancermedicalscience. 2015. PMID: 26635904 Free PMC article. Review.
Sleep in Mowat-Wilson Syndrome: a clinical and video-polysomnographic study.
Di Pisa V, Provini F, Ubertiello S, Bonetti S, Ricci E, Ivanovski I, Caraffi SG, Giordano L, Accorsi P, Savasta S, Raviglione F, Boni A, Grioni D, Graziano C, Garavelli L, Cordelli DM. Di Pisa V, et al. Among authors: caraffi sg. Sleep Med. 2019 Sep;61:44-51. doi: 10.1016/j.sleep.2019.04.011. Epub 2019 Apr 26. Sleep Med. 2019. PMID: 31285160
Severe Peripheral Joint Laxity is a Distinctive Clinical Feature of Spondylodysplastic-Ehlers-Danlos Syndrome (EDS)-B4GALT7 and Spondylodysplastic-EDS-B3GALT6.
Caraffi SG, Maini I, Ivanovski I, Pollazzon M, Giangiobbe S, Valli M, Rossi A, Sassi S, Faccioli S, Rocco MD, Magnani C, Campos-Xavier B, Unger S, Superti-Furga A, Garavelli L. Caraffi SG, et al. Genes (Basel). 2019 Oct 12;10(10):799. doi: 10.3390/genes10100799. Genes (Basel). 2019. PMID: 31614862 Free PMC article.
Neuroimaging findings in Mowat-Wilson syndrome: a study of 54 patients.
Garavelli L, Ivanovski I, Caraffi SG, Santodirocco D, Pollazzon M, Cordelli DM, Abdalla E, Accorsi P, Adam MP, Baldo C, Bayat A, Belligni E, Bonvicini F, Breckpot J, Callewaert B, Cocchi G, Cuturilo G, Devriendt K, Dinulos MB, Djuric O, Epifanio R, Faravelli F, Formisano D, Giordano L, Grasso M, Grønborg S, Iodice A, Iughetti L, Lacombe D, Maggi M, Malbora B, Mammi I, Moutton S, Møller R, Muschke P, Napoli M, Pantaleoni C, Pascarella R, Pellicciari A, Poch-Olive ML, Raviglione F, Rivieri F, Russo C, Savasta S, Scarano G, Selicorni A, Silengo M, Sorge G, Tarani L, Tone LG, Toutain A, Trimouille A, Valera ET, Vergano SS, Zanotta N, Zollino M, Dobyns WB, Paciorkowski AR. Garavelli L, et al. Among authors: caraffi sg. Genet Med. 2017 Jun;19(6):691-700. doi: 10.1038/gim.2016.176. Epub 2016 Nov 10. Genet Med. 2017. PMID: 27831545 Free PMC article.
55 results