MENCARELLI, Amedea
MENCARELLI, Amedea
DIPARTIMENTO DI MEDICINA E CHIRURGIA
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 New De Novo Missense Variant of the TET3 Gene in a Patient with Epilepsy and Macrocephaly
2024 Foti, M. R. S.; Tedesco, M. G.; Colavito, D.; Rogaia, D.; Mencarelli, A.; Schippa, M.; Gradassi, C.; Romani, R.; Ardisia, C.; Prontera, P.
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
| Titolo | Data di pubblicazione | Autore(i) | File |
|---|---|---|---|
| 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 New De Novo Missense Variant of the TET3 Gene in a Patient with Epilepsy and Macrocephaly | 2024 | Foti, M. R. S.; Tedesco, M. G.; Colavito, D.; Rogaia, D.; Mencarelli, A.; Schippa, M.; Gradassi, C.; Romani, R.; Ardisia, C.; Prontera, P. | |
| 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 |