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Page 1
Genetic and epigenetic alterations in the GNAS locus and clinical consequences in Pseudohypoparathyroidism: Italian common healthcare pathways adoption.
de Sanctis L, Giachero F, Mantovani G, Weber G, Salerno M, Baroncelli GI, Elli MF, Matarazzo P, Wasniewska M, Mazzanti L, Scirè G, Tessaris D; Study Group Endocrine diseases due to altered function of Gsα protein of the Italian Society of Pediatric Endocrinology and Diabetology (ISPED). de Sanctis L, et al. Among authors: giachero f. Ital J Pediatr. 2016 Nov 21;42(1):101. doi: 10.1186/s13052-016-0310-3. Ital J Pediatr. 2016. PMID: 27871293 Free PMC article.
Screening of PRKAR1A and PDE4D in a Large Italian Series of Patients Clinically Diagnosed With Albright Hereditary Osteodystrophy and/or Pseudohypoparathyroidism.
Elli FM, Bordogna P, de Sanctis L, Giachero F, Verrua E, Segni M, Mazzanti L, Boldrin V, Toromanovic A, Spada A, Mantovani G. Elli FM, et al. Among authors: giachero f. J Bone Miner Res. 2016 Jun;31(6):1215-24. doi: 10.1002/jbmr.2785. Epub 2016 Feb 9. J Bone Miner Res. 2016. PMID: 26763073 Free article. Clinical Trial.
The Prevalence of GNAS Deficiency-Related Diseases in a Large Cohort of Patients Characterized by the EuroPHP Network.
Elli FM, Linglart A, Garin I, de Sanctis L, Bordogna P, Grybek V, Pereda A, Giachero F, Verrua E, Hanna P, Mantovani G, Perez de Nanclares G. Elli FM, et al. Among authors: giachero f. J Clin Endocrinol Metab. 2016 Oct;101(10):3657-3668. doi: 10.1210/jc.2015-4310. Epub 2016 Jul 18. J Clin Endocrinol Metab. 2016. PMID: 27428667 Free article.
The circulating methylome in childhood-onset inflammatory bowel disease.
Noble A, Adams A, Nowak J, Cheng G, Nayak K, Quinn A, Kristiansen M, Kalla R, Ventham NT, Giachero F, Jayamanne C, Hansen R, Hold GL, El-Omar E, Croft NM, Wilson D, Beattie RM, Ashton JJ, Zilbauer M, Ennis S, Uhlig HH, Satsangi J. Noble A, et al. Among authors: giachero f. J Crohns Colitis. 2024 Oct 4:jjae157. doi: 10.1093/ecco-jcc/jjae157. Online ahead of print. J Crohns Colitis. 2024. PMID: 39365013
Patient-derived organoid biobank identifies epigenetic dysregulation of intestinal epithelial MHC-I as a novel mechanism in severe Crohn's Disease.
Dennison TW, Edgar RD, Payne F, Nayak KM, Ross ADB, Cenier A, Glemas C, Giachero F, Foster AR, Harris R, Kraiczy J, Salvestrini C, Stavrou G, Torrente F, Brook K, Trayers C, Elmentaite R, Youssef G, Tél B, Winton DJ, Skoufou-Papoutsaki N, Adler S, Bufler P, Azabdaftari A, Jenke A, G N, Thomas N, Miele E, Al-Mohammad A, Guarda G, Kugathasan S, Venkateswaran S, Clatworthy MR, Castro-Dopico T, Suchanek O, Strisciuglio C, Gasparetto M, Lee S, Xu X, Bello E, Han N, Zerbino DR, Teichmann SA, Nys J, Heuschkel R, Perrone F, Zilbauer M. Dennison TW, et al. Among authors: giachero f. Gut. 2024 Aug 8;73(9):1464-1477. doi: 10.1136/gutjnl-2024-332043. Gut. 2024. PMID: 38857990 Free PMC article.
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