MENCARELLI, Amedea

MENCARELLI, Amedea  

DIPARTIMENTO DI MEDICINA E CHIRURGIA  

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A Clinical and Molecular Survey of 62 Cystic Fibrosis Patients from Umbria (Central Italy) Disclosing a High Frequency (2.4%) of the 2184insA Allele: Implications for Screening 2017 Prontera, Paolo; Isidori, Ilenia; Mencarini, Valeria; Pennoni, Guido; Mencarelli, Amedea; Stangoni, Gabriela; DI CARA, Giuseppe; VERROTTI DI PIANELLA, Alberto
A patient with novel MBOAT7 variant: The cerebellar atrophy is progressive and displays a peculiar neurometabolic profile 2020 Farne, M.; Tedesco, G. M.; Bedetti, C.; Mencarelli, A.; Rogaia, D.; Colavito, D.; Di Cara, G.; Stangoni, G.; Troiani, S.; Ferlini, A.; Prontera, P.
A rare case of brachyolmia with amelogenesis imperfecta caused by a new pathogenic splicing variant in ltbp3 2021 Flex, E.; Imperatore, V.; Carpentieri, G.; Bruselles, A.; Ciolfi, A.; Pizzi, S.; Tedesco, M. G.; Rogaia, D.; Mencarelli, A.; Di Cara, G.; Verrotti, A.; Troiani, S.; Merla, G.; Tartaglia, M.; Prontera, P.
Aicardi Syndrome Associated with Autosomal Genomic Imbalance: Coincidence or Evidence for Autosomal Inheritance with Sex-Limited Expression? 2013 Prontera, Paolo; A., Bartocci; V., Ottaviani; I., Isidori; Rogaia, Daniela; C., Ardisia; G., Guercini; Mencarelli, Amedea; Donti, Emilio
Anti-HIV Protease Inhibitors Interact With NSAIDs and Exacerbate Small Intestine Enteropathy Induced by NSAIDs 2011 Mencarelli, A; Cipriani, S; Distrutti, E; Palladino, G; Ricci, P; Francisci, D; Baldelli, F; Fiorucci, S
Autosomal Dominant PTH Gene Signal Sequence Mutation in a Family With Familial Isolated Hypoparathyroidism 2017 Cinque, Luigia; Sparaneo, Angelo; Penta, Laura; Mencarelli, Amedea; Rogaia, Daniela; Esposito, Susanna; Fabrizio, Federico Pio; Baorda, Filomena; Verrotti, Alberto; Falorni, Alberto; Stangoni, Gabriela; Hendy, Geoffrey N.; Guarnieri, Vito; Prontera, Paolo
Bile-acid-activated receptors: targeting TGR5 and farnesoid-X-receptor in lipid and glucose disorders. 2009 Fiorucci, Stefano; Mencarelli, Amedea; Palladino, G; Cipriani, Sabrina
Cleft palate and ADULT phenotype in a patient with a novel TP63 mutation suggests lumping of EEC/LM/ADULT syndromes into a unique entity: ELA syndrome. 2011 Prontera, Paolo; Garelli, E.; Isidori, I.; Mencarelli, Amedea; Carando, A.; Silengo, M. C.; Donti, Emilio
Cooperation between RING+B1-B2 and coiled-coil domains of PML is necesary for its effects on cell growth 1998 Fagioli, Marta; Alcalay, M; Tomassoni, MARIA LETIZIA; Ferrucci, PIER FRANCESCO; Mencarelli, Amedea; Riganelli, D; Grignani, Francesco; Pozzan, T; Nicoletti, Ildo; Grignani, Fausto; Pelicci, Pier Giuseppe
Effect of the acute promyelocytic leukemia PML/RAR alpha protein on differentiation and survival of myeloid precursors. 1994 Fagioli, Marta; Grignani, Francesco; Ferrucci, PIER FRANCESCO; Alcalay, M; Mencarelli, Amedea; Nicoletti, Ildo; Grignani, Fausto; Pelicci, Pier Giuseppe
Efficient infection and selection of hematopoietic progenitors by a novel GFP based retroviral vector 1998 Grignani, Francesco; Kinsella, T; Mencarelli, Amedea; Valtieri, M; Riganelli, D; Lanfrancone, L; Grignani, Fausto; Peschle, C; Nolan, G; Pelicci, Pier Giuseppe
Expanding the Clinical Spectrum of Sotos Syndrome in a Patient with the New "c.[5867T > A]+[=]"; "p.[Leu1956Gln]+[=]" NSD1 Missense Mutation and Complex Skin Hamartoma 2018 Mencarelli, A; Prontera, P; Mencarelli, A; Rogaia, D; Stangoni, G; Cecconi, M; Esposito, S.
Familial pericentric inversion of chromosome 18: intrafamilial variability of the recombinant dup(18q). 2010 Prontera, Paolo; Buldrini, B.; Aiello, V.; Rogaia, Daniela; Mencarelli, Amedea; Gruppioni, R.; Bonfatti, A.; Beltrami, N.; Donti, Emilio; Sensi, A.
Identification of a dna methylation episignature in the 22q11.2 deletion syndrome 2021 Rooney, K.; Levy, M. A.; Haghshenas, S.; Kerkhof, J.; Rogaia, D.; Tedesco, M. G.; Imperatore, V.; Mencarelli, A.; Squeo, G. M.; Di Venere, E.; Di Cara, G.; Verrotti, A.; Merla, G.; Tedder, M. L.; Dupont, B. R.; Sadikovic, B.; Prontera, P.
Lethal and non-lethal GLIS1 related malformation syndromes 2019 Prontera, P; Le Caignec, C; Philippe, J; Martin-Coignard, D; Gunn, Cs; Lindenbaum, P; Bokobza, C; Redon, R; Sallicandro, E; Mencarelli, A; Rogaia, D; Gradassi, C; Schippa, M; Romani, R; Ardisia, C; Merla, G; Troiani, S; Stangoni, G; Davis, Ee
Molecular Genetics Of The T(15;17) Of Acute Promyelocytic Leukemia 1994 M., Alcalay; M., Fagioli; Grignani, Francesco; Pf, Ferrucci; L., Tomassoni; Rogaia, Daniela; Liberatore, Concetta; M., Ruthardt; Mencarelli, Amedea; Grignani, Fausto; Pg, Pelicci
Natural killer cell-mediated lysis of autologous cells modified by gene therapy 1999 Liberatore, Concetta; Capanni, M.; Albi, NICOLA ANTONIO GIUSEPPE; Volpi, I.; Urbani, E.; Ruggieri, L.; Mencarelli, Amedea; Grignani, Francesco; Velardi, Andrea
NFIA haploinsufficiency: case series and literature review 2023 Dini, Gianluca; Verrotti, Alberto; Gorello, Paolo; Soliani, Luca; Cordelli, Duccio Maria; Antona, Vincenzo; Mencarelli, Amedea; Colavito, Davide; Prontera, Paolo
Pathogenetic Relevance Of The Acute Promyelocytic Leukemia-Specific PML/RARa Fusion Protein 1994 Grignani, Francesco; M., Fagioli; M., Alcalay; Pf, Ferrucci; L., Tomassoni; Rogaia, Daniela; Liberatore, Concetta; M., Ruthardt; Mencarelli, Amedea; Grignani, Fausto; P. G., Pelicci
Report of a novel SHOX missense variant in a boy with short stature and his mother with Leri-Weill dyschondrosteosis 2018 Lucchetti, L; Prontera, P; Mencarelli, A; Sallicandro, E; Mencarelli, A; Cofini, M; Leonardi, A; Stangoni, Gioia; Penta, L; Esposito, S.