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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. 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.
X-linked hypophosphatemic rickets: an Italian experts' opinion survey.
Emma F, Cappa M, Antoniazzi F, Bianchi ML, Chiodini I, Eller Vainicher C, Di Iorgi N, Maghnie M, Cassio A, Balsamo A, Baronio F, de Sanctis L, Tessaris D, Baroncelli GI, Mora S, Brandi ML, Weber G, D'Ausilio A, Lanati EP. Emma F, et al. Among authors: de sanctis l. Ital J Pediatr. 2019 May 31;45(1):67. doi: 10.1186/s13052-019-0654-6. Ital J Pediatr. 2019. PMID: 31151476 Free PMC article.
Pretreatment Endocrine Disorders Due to Optic Pathway Gliomas in Pediatric Neurofibromatosis Type 1: Multicenter Study.
Santoro C, Perrotta S, Picariello S, Scilipoti M, Cirillo M, Quaglietta L, Cinalli G, Cioffi D, Di Iorgi N, Maghnie M, Gallizia A, Parpagnoli M, Messa F, De Sanctis L, Vannelli S, Marzuillo P, Miraglia Del Giudice E, Grandone A. Santoro C, et al. Among authors: de sanctis l. J Clin Endocrinol Metab. 2020 Jun 1;105(6):dgaa138. doi: 10.1210/clinem/dgaa138. J Clin Endocrinol Metab. 2020. PMID: 32294191 Free article.
Variants in the 5'UTR reduce SHOX expression and contribute to SHOX haploinsufficiency.
Babu D, Vannelli S, Fanelli A, Mellone S, Baffico AM, Corrado L, Essa WA, Grandone A, Bellone S, Monzani A, Vinci G, De Sanctis L, Stuppia L, Prodam F, Giordano M. Babu D, et al. Among authors: de sanctis l. Eur J Hum Genet. 2021 Jan;29(1):110-121. doi: 10.1038/s41431-020-0676-y. Epub 2020 Jul 9. Eur J Hum Genet. 2021. PMID: 32647378 Free PMC article.
230 results