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GARELLI, Emanuela

GARELLI, Emanuela  

SCIENZE DELLA SANITA' PUBBLICA E PEDIATRICHE  

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Titolo Data di pubblicazione Autore(i) File
A 20-year long term experience of the Italian Diamond-Blackfan Anaemia Registry: RPS and RPL genes, different faces of the same disease? 2020 Quarello, Paola; Garelli, Emanuela; Carando, Adriana; Cillario, Rebecca; Brusco, Alfredo; Giorgio, Elisa; Ferrante, Daniela; Corti, Paola; Zecca, Marco; Luciani, Matteo; Pierri, Filomena; Putti, Maria C; Cantarini, Maria E; Farruggia, Piero; Barone, Angelica; Cesaro, Simone; Russo, Giovanna; Fagioli, Franca; Dianzani, Irma; Ramenghi, Ugo
A new database for ribosomal protein genes which are mutated in Diamond-Blackfan Anemia 2008 Ilenia Boria; Paola Quarello; Federica Avondo; Emanuela Garelli; Anna Aspesi; Adriana Carando; Maria Francesca Campagnoli; Irma Dianzani; Ugo Ramenghi
A novel H208D TP63 mutation in a familial case of ectrodactytly-ectodermal dysplasia-cleft lip/palate without clefting 2009 Sorasio L; Biamino E; Garelli E; Ferrero GB; Silengo MC.
AEC syndrome: further evidence of a common genetic etiology with Rapp-Hodgkin syndrome 2006 SORASIO L; FERRERO G; GARELLI E; BRUNELLO G; MARTANO C; CARANDO A; BELLIGNI E; DIANZANI I; CIRILLO SILENGO M
Analysis of seven ribosomal protein genes in Italian Diamond Blackfan anemia patients 2010 Ramenghi U ;Quarello P ;Garelli E ;Carando A;Lorenzati A ;Ansaldi G;Davitto M ;Boria I; Aspesi A ;Dianzani I
Anemia di Diamond Blackfan (DBA) : Studio dell’espressione genica. 2004 QUARELLO P; CAMPAGNOLI MF; GARELLI E; CARANDO A; CRESCENZIO N; DORIA A; MARTINO S; RENGA D; U. RAMENGHI; DIANZANI I
Autoimmune lymphoproliferative syndrome. [Malattia autoimmune linfoproliferativa] 2007 Ramenghi U; Garbarini L; Alliaudi C; Garelli E; Crescenzio N; Rivetti E; Quarello P; Campagnoli MF.
C-KIT IS EXPRESSED IN SOFT TISSUE SARCOMA OF NEUROECTODERMIC ORIGIN AND ITS LIGAND PREVENTS APOPTOSIS OF NEOPLASTIC CELLS 1998 RICOTTI E.; FAGIOLI F.; GARELLI E.; LINARI C.; E. MADON; CRESCENZIO N.; PISTAMIGLIO P.; VAI S.; BERGER M.; CORDERO DI MONTEZEMOLO L.; BASSO G.
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 P; Garelli E; Isidori I; Mencarelli A; Carando A; Silengo MC; Donti E.
Co-inherited mutations of Fas and caspase-10 in development of the autoimmune lymphoproliferative syndrome 2007 Cerutti E; Campagnoli MF; Ferretti M; Garelli E; Crescenzio N; Rosolen A; Chiocchetti A; Lenardo MJ; Ramenghi U; Dianzani U
Design of a multiplex ligation-dependent probe amplification assay for SLC20A2: identification of two novel deletions in primary familial brain calcification 2019 Giorgio, Elisa; Garelli, Emanuela; Carando, Adriana; Bellora, Stefania; Rubino, Elisa; Quarello, Paola; Sirchia, Fabio; Marrama, Federico; Gallone, Salvatore; Grosso, Enrico; Pasini, Barbara; Massa, Roberto; Brussino, Alessandro; Brusco, Alfredo
Diamond Blackfan anaemia in the Italian population 1999 U. RAMENGHI; GARELLI E.; VALTOLINA S.; CAMPAGNOLI MF.; TIMEUS F.; CRESCENZIO N; MAIR M.; VAROTTO S.; D'AVANZO S.; NOBILI B.; MASSOLO F.; MORI PG.; LOCATELLI F.; GUSTAVSSON P.; DAHL N.; DIANZANI I.
Diamond-Blackfan anemia: a congenital defect in erythropoiesis 1996 DIANZANI I; GARELLI E; U. RAMENGHI
Diamond-Blackfan Anemia: an Overview 2000 DIANZANI I; GARELLI E; U. RAMENGHI
Diamond-Blackfan anemia: expansion of erythroid progenitors in vitro by IL-9, but exclusion of a significant pathogenetic role for the IL-9 gene and the hematopoietic gene cluster on chromosome 5q. 1997 DIANZANI I; GARELLI E; CRESCENZIO N; TIMEUS F; MORI PG; VAROTTO S; NOBILI B; BRANDALISE S; OLIVIERI NF; GABUTTI V; U. RAMENGHI
Diamond-Blackfan anemia: genotype-phenotype correlation in Italian patients with RPL5 and RPL11 mutations 2010 Quarello P; Garelli E; Carando A; Brusco A; Calabrese R; Dufour C; Longoni D; Misuraca A; Vinti L; Aspesi A; Biondini L; Loreni F; Dianzani I; Ramenghi U
Diamond-Blackfan anemia: report of seven further mutations in the RPS19 gene and evidence of mutation heterogeneity in the Italian population. 2000 U. RAMENGHI; CAMPAGNOLI MF; GARELLI E; CARANDO A; BRUSCO A; BAGNARA GP; STRIPPOLI PL; IZZI GC; BRANDALISE S; RICCARDI R; DIANZANI I
Exploiting pre-rRNA processing in Diamond Blackfan anemia gene discovery and diagnosis. 2014 Farrar JE; Quarello P; Fisher R; O'Brien KA; Aspesi A; Parrella S; Henson AL; Seidel NE; Atsidaftos E; Prakash S; Bari S; Garelli E; Arceci RJ; Dianzani I; Ramenghi U; Vlachos A; Lipton JM; Bodine DM; Ellis SR.
Familial tumoral calcinosis and testicular microlithiasis associated with a new mutation of GALNT3 in a white family 2006 CAMPAGNOLI MF; PUCCI A; GARELLI E; CARANDO A; DEFILIPPI C; LALA R; INGROSSO G; DIANZANI I; FORNI M; RAMENGHI U
Fibroblasts from patients with Diamond-Blackfan anaemia show abnormal expression of genes involved in protein synthesis and amino acid metabolism 2009 Dianzani I; Avondo F; Roncaglia P; Krmac H; Crescenzio N; Garelli E; Armiraglio M; Aspesi A; Castagnoli C; Campagnoli MF; Ramenghi U; Gustincich S; Santoro C.