Biblio

Author Title [ Type

] Year

Filters: Author is Ceccherini, Isabella [Clear All Filters]

Journal Article

Pietrasanta C, Minoia F, Torreggiani S, Ronchi A, Gattorno M, Volpi S, Ceccherini I, Mosca F, Filocamo G, Pugni L. When neonatal inflammation does not mean infection: An early-onset mevalonate kinase deficiency with interstitial lung disease. Clin Immunol. 2019.

Papa R, Rusmini M, Volpi S, Dell'Orso G, Giarratana MCarla, Caorsi R, Giardino S, Bocca P, Barone P, Severino M, et al. Progression of non-hematologic manifestations in SAMD9L-associated autoinflammatory disease (SAAD) after hematopoietic stem cell transplantation. Pediatr Allergy Immunol. 2021.

Viti F, De Giorgio R, Ceccherini I, Ahluwalia A, Alves MM, Baldo C, Baldussi G, Bonora E, Borrelli O, Dall'Oglio L, et al. Multi-disciplinary Insights from the First European Forum on Visceral Myopathy 2022 Meeting. Dig Dis Sci. 2023.

Shinar Y, Ceccherini I, Rowczenio D, Aksentijevich I, Arostegui J, Ben-Chétrit E, Boursier G, Gattorno M, Hayrapetyan H, Ida H, et al. ISSAID/EMQN Best Practice Guidelines for the Genetic Diagnosis of Monogenic Autoinflammatory Diseases in the Next-Generation Sequencing Era. Clin Chem. 2020.

Gamboa ALucia Cuad, Benfante R, Nizzardo M, Bachetti T, Pelucchi P, Melzi V, Arzilli C, Peruzzi M, Reinbold RA, Cardani S, et al. Generation of two hiPSC lines (UMILi027-A and UMILi028-A) from early and late-onset Congenital Central hypoventilation Syndrome (CCHS) patients carrying a polyalanine expansion mutation in the PHOX2B gene. Stem Cell Res. 2022;61:102781.