IRIS - Res&Arch Institutional Research Information System - Research & Archive

ROGAIA, Daniela

ROGAIA, Daniela  

DIPARTIMENTO DI MEDICINA E CHIRURGIA  

Mostra records
Risultati 1 - 20 di 24 (tempo di esecuzione: 0.05 secondi).
Titolo Data di pubblicazione Autore(i) File
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.
Acute promyelocytic leukemia cells resistant to retinoic acid show further perturbation of the RARa signal transduction system. 1995 S., Dermime; Grignani, Francesco; Rogaia, Daniela; Liberatore, Concetta; E., Marchesi; C., GAMBACORTI PASSERINI
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
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
Craniometaphyseal dysplasia with severe craniofacial involvement shows homozygosity at 6q21-22.1 locus. 2011 Prontera, Paolo; Rogaia, Daniela; Sobacchi, C.; Tavares, V. L.; Mazzotta, Giovanni; Passos Bueno, M. R.; Donti, Emilio
Deletion 2p15-16.1 syndrome: Case Report and Review 2011 Prontera, Paolo; L., Bernardini; G., Stangoni; A., Capalbo; Rogaia, Daniela; Romani, Rita; C., Ardisia; B., Dallapiccola; Donti, Emilio
Effects on differentiation by the promyelocytic leukemia PML/RARa protein depend on the fusion of the PML protein-dimerization and RARa DNA binding domains. 1996 Grignani, Francesco; Testa, U; Rogaia, Daniela; Ferrucci, PIER FRANCESCO; Samoggia, P; Pinto, A; Aldinucci, D; Gelmetti, Vania; Fagioli, Marta; Alcalay, M; Grignani, Fausto; Nicoletti, Ildo; Peschle, C; 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.
Formation of PML/RAR alpha high molecular weight nuclear complexes through the PML coiled-coil region is essential for the PML/RAR alpha-mediated retinoic acid response 1999 Grignani, Francesco; Gelmetti, V.; Fanelli, M; Rogaia, Daniela; De Matteis, S; Ferrara, Ff; Bonci, D; Grignani, Fausto; Nervi, C; Pelicci, P. G.
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
Molecular Pathogenesis of Acute Promyelocytic Leukaemia. 1994 Grignani, Francesco; M., Fagioli; M., Alcalay; L., Tomassoni; Rogaia, Daniela; Grignani, Fausto; Pg, Pelicci
Nablus mask-like facial syndrome: deletion of chromosome 8q22.1 is necessary but not sufficient to cause the phenotype. 2012 Allanson, J; Smith, A; Hare, H; Albrecht, B; Bijlsma, E; Dallapiccola, B; Donti, Emilio; Fitzpatrick, D; Isidor, B; Lachlan, K; Le Caignec, C; Prontera, Paolo; Raas Rothschild, A; Rogaia, Daniela; van Bon, B; Aradhya, S; Crocker, Sf; Jarinova, O; McGowan Jordan, J; Boycott, K; Bulman, D; Fagerberg, C. R.
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
Recurrent ∼100 Kb microdeletion in the chromosomal region 14q11.2, involving CHD8 gene, is associated with autism and macrocephaly. 2014 Prontera, Paolo; Ottaviani, V; Toccaceli, D; Rogaia, Daniela; Ardisia, C; Romani, Rita; Stangoni, G; Pierini, A; Donti, Emilio
Schilbach-Rott syndrome associated with 9q22.32q22.33 duplication, involving the PTCH1 gene 2019 Prontera, P; Rogaia, D; Sallicandro, E; Mencarelli, A; Imperatore, V; Squeo, Gm; Merla, G; Elisei, S; Moretti-Ferreira, D; Esposito, S; Stangoni, G.