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Pathogenic variants in SOX11 mimicking Pitt-Hopkins syndrome phenotype.
Pasquetti D, L'Erario FF, Marangi G, Panfili A, Chiurazzi P, Sonnini E, Orteschi D, Alfieri P; TUDP Study Group; Morleo M, Nigro V, Zollino M. Pasquetti D, et al. Among authors: orteschi d. Clin Genet. 2024 Jan;105(1):81-86. doi: 10.1111/cge.14414. Epub 2023 Aug 9. Clin Genet. 2024. PMID: 37558216
Linear Diagnostic Procedure Elicited by Clinical Genetics and Validated by mRNA Analysis in Neuronal Ceroid Lipofuscinosis 7 Associated with a Novel Non-Canonical Splice Site Variant in MFSD8.
Pasquetti D, Marangi G, Orteschi D, Carapelle M, L'Erario FF, Venditti R, Maietta S, Battaglia DI, Contaldo I, Veredice C, Zollino M. Pasquetti D, et al. Among authors: orteschi d. Genes (Basel). 2023 Jan 17;14(2):245. doi: 10.3390/genes14020245. Genes (Basel). 2023. PMID: 36833170 Free PMC article.
The Pitt-Hopkins syndrome: report of 16 new patients and clinical diagnostic criteria.
Marangi G, Ricciardi S, Orteschi D, Lattante S, Murdolo M, Dallapiccola B, Biscione C, Lecce R, Chiurazzi P, Romano C, Greco D, Pettinato R, Sorge G, Pantaleoni C, Alfei E, Toldo I, Magnani C, Bonanni P, Martinez F, Serra G, Battaglia D, Lettori D, Vasco G, Baroncini A, Daolio C, Zollino M. Marangi G, et al. Among authors: orteschi d. Am J Med Genet A. 2011 Jul;155A(7):1536-45. doi: 10.1002/ajmg.a.34070. Epub 2011 Jun 10. Am J Med Genet A. 2011. PMID: 21671391
Complex Muco-cutaneous Manifestations of CARMIL2-associated Combined Immunodeficiency: A Novel Presentation of Dysfunctional Epithelial Barriers.
Marangi G, Garcovich S, Sante GD, Orteschi D, Frangella S, Scaldaferri F, Genuardi M, Peris K, Gurrieri F, Zollino M. Marangi G, et al. Among authors: orteschi d. Acta Derm Venereol. 2020 Jan 23;100(1):adv00038. doi: 10.2340/00015555-3370. Acta Derm Venereol. 2020. PMID: 31709449 Free PMC article. No abstract available.
A common pattern of somatic mutations in t-MDS/AML of patients treated with PARP inhibitors for metastatic ovarian cancer.
Chiusolo P, Marchetti C, Rossi M, Minnella G, Salutari V, Distefano M, Giammarco S, Metafuni E, Minucci A, Frioni F, Gasbarrino C, Colangelo M, Orteschi D, Fagotti A, Lorusso D, Pagano L, De Stefano V, Scambia G, Sica S. Chiusolo P, et al. Among authors: orteschi d. Am J Hematol. 2022 Nov;97(11):E400-E403. doi: 10.1002/ajh.26697. Epub 2022 Sep 8. Am J Hematol. 2022. PMID: 36054600 Free article. No abstract available.
48 results