GARELLI, Emanuela
GARELLI, Emanuela
SCIENZE DELLA SANITA' PUBBLICA E PEDIATRICHE
A 20-year long term experience of the Italian Diamond-Blackfan Anaemia Registry: RPS and RPL genes, different faces of the same disease?
2020-01-01 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
2008-01-01 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
2009-01-01 Sorasio L; Biamino E; Garelli E; Ferrero GB; Silengo MC.
AEC syndrome: further evidence of a common genetic etiology with Rapp-Hodgkin syndrome
2006-01-01 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
2010-01-01 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.
2004-01-01 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]
2007-01-01 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
1998-01-01 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.
2011-01-01 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
2007-01-01 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
2019-01-01 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
1999-01-01 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
1996-01-01 DIANZANI I; GARELLI E; U. RAMENGHI
Diamond-Blackfan Anemia: an Overview
2000-01-01 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.
1997-01-01 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
2010-01-01 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.
2000-01-01 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.
2014-01-01 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
2006-01-01 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
2009-01-01 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.
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. |