Sfoglia per Autore
Mutations in the erythropoietin receptor gene are not a common cause of Diamond-Blackfan anemia.
1996-01-01 Dianzani I; Garelli E; Dompè C; Crescenzio N; Locatelli F; Schilirò G; Castaman G; Bagnara GP; Olivieri NF; Gabutti V; Ramenghi U
Diamond-Blackfan anemia: a congenital defect in erythropoiesis
1996-01-01 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
Stem cell factor suppresses apoptosis in neuroblastoma cell lines.
1997-01-01 Timeus F; Crescenzio N; Valle P; Pistamiglio P; Piglione M; Garelli E; Ricotti E; Rocchi P; Strippoli P; Cordero di Montezemolo L; Madon E; Ramenghi U; Basso G.
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.
Identification of microdeletions spanning the Diamond-Blackfan anemia locus on 19q13 and evidence for genetic heterogeneity.
1998-01-01 Gustavsson P; Garelli E; Draptchinskaia N; Ball S; Willig TN; Tentler D; Dianzani I; Punnett HH; Shafer FE; Cario H; Ramenghi U; Glomstein A; Pfeiffer RA; Goringe A; Olivieri NF; Smibert E; Tchernia G; Elinder G; Dahl N
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.
Mutations in ribosomal protein S19 gene and diamond blackfan anemia: wide variations in phenotypic expression
1999-01-01 WILLIG TH; DRAPTCHINSKAIA N; DIANZANI I; BALL S; NIEMEYER C; RAMENGHI U; ORFALI K; GUSTAVSSON P; GARELLI E; A. BRUSCO; TIEMANN C; PERIGNON JL; BOUCHIER C; CICCHIELLO L; DAHL N; MOHANDAS N; TCHERNIA G
L'anemia di diamond blackfan
1999-01-01 Ramenghi U; Garelli E; Dianzani I.
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
Diamond-Blackfan Anemia: an Overview
2000-01-01 DIANZANI I; GARELLI E; U. RAMENGHI
Flt-3 and its ligand are expressed in neural crest-derived tumors and promote survival and proliferation of their cell lines.
2001-01-01 TIMEUS F; RICOTTI E; CRESCENZIO N; GARELLI E; DORIA A; SPINELLI M; U. RAMENGHI; BASSO G
Rapp-Hodgkin and AEC syndromes due to a new frameshift mutation in the TP63 gene.
2003-01-01 Dianzani I; Garelli E; Gustavsson P; Carando A; Gustafsson B; Dahl N; Annerén G.
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
Molecular basis of Diamond-Blackfan anemia: new findings from the Italian registry and a review of the literature
2004-01-01 CAMPAGNOLI MF; GARELLI E; QUARELLO P; CARANDO A; VAROTTO S; NOBILI B; LONGONI D; PECILE V; ZECCA M; DUFOUR C; RAMENGHI U; DIANZANI I
Nonsense-mediated and nonstop decay of ribosomal protein S19 mRNA in Diamond-Blackfan anemia
2004-01-01 CHATR-ARYAMONTRI A; ANGELINI M; GARELLI E; TCHERNIA G; RAMENGHI U; DIANZANI I; LORENI F
Somatic mosaicism and variable expressivity in Diamond Blackfan anemia (DBA): a gross deletion involving the 19q13 locus in a patient with transient anemia
2005-01-01 GARELLI E; QUARELLO P; CAMPAGNOLI MF; BRUSCO A; CARANDO A; MENEGATTI E; CRESCENZIO N; FOGLIA L; DIANZANI I; RAMENGHI U
Interactions between RPS19, mutated in Diamond-Blackfan anemia, and the PIM-1 oncoprotein
2005-01-01 CHIOCCHETTI A; GIBELLO L; CARANDO A; ASPESI A; SECCO P; GARELLI E; LORENI F; ANGELINI M; BIAVA A; DAHL N; DIANZANI U; RAMENGHI U; SANTORO C; DIANZANI I
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
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
The broad spectrum of autoimmune lymphoproliferative disease: molecular bases, clinical features and long-term follow-up in 31 patients
2006-01-01 CAMPAGNOLI MF; GARBARINI L; QUARELLO P; GARELLI E; CARANDO A; BARAVALLE V; DORIA A; BIAVA A; CHIOCCHETTI A; ROSOLEN A; DUFOUR C; DIANZANI U; RAMENGHI U
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
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.
R298Q mutation of p63 gene in autosomal dominant ectodermal dysplasia associated with arrhythmogenic right ventricular cardiomyopathy
2008-01-01 VALENZISE M; ARRIGO T; DE LUCA F; PRIVITERA A; FRIGIOLA A; CARANDO A; GARELLI E; SILENGO M
RPS19 mutations in patients with Diamond-Blackfan anemia
2008-01-01 Campagnoli MF; Ramenghi U; Armiraglio M; Quarello P; Garelli E; Carando A; Avondo F; Pavesi E; Fribourg S; Gleizes PE; Loreni F; Dianzani I
Multiplex Ligation-dependent Probe Amplification (MLPA) enhances molecular diagnosis of Diamond Blackfan Anemia due to RPS19 deficiency
2008-01-01 Quarello, Paola; Garelli, Emanuela; Brusco, Alfredo; Carando, Adriana; Pappi, Patrizia; Barberis, Marco; Coletti, Valentina; Campagnoli, Maria Francesca; 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
Progressive external ophthalmoplegia and vision and hearing loss in a patient with mutations in POLG2 and OPA1.
2008-01-01 Ferraris S; Clark S; Garelli E; Davidzon G; Moore SA; Kardon RH; Bienstock RJ; Longley MJ; Mancuso M; Gutiérrez Ríos P; Hirano M; Copeland WC; DiMauro S.
Le basi genetiche di una ribosomopatia: un database per l'anemia di Diamond-Blackfan
2009-01-01 Boria I; Garelli E; Quarello P; Aspesi A; Carando A; Massano D; Dianzani I; Ramenghi U.
High frequency of RPL5 and RPL11 gene mutation in Italians patients with Diamond-Blackfan anemia (DBA)
2009-01-01 Dianzani I; Ramenghi U; Quarello P; Garelli E; Carando A; Campagnoli MF; Brusco A.
Neutropenie: considerazioni su una casistica monocentrica
2009-01-01 Massano D; Garelli E; Renga D; Lorenzati A; Carando A; Garbarini L; Rivetti E; Vallero S; Parodi E; 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.
HDR syndrome: a novel "de novo" mutation in GATA3 gene.
2009-01-01 Ferraris S; Del Monaco AG; Garelli E; Carando A; De Vito B; Pappi P; Lala R; Ponzone A.
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.
Fibroblasts from patients with Diamond-Blackfan anaemia show abnormal expression of genes involved in protein synthesis, amino acid metabolism and cancer
2009-01-01 Avondo F; Roncaglia P; Crescenzio N; Krmac H; Garelli E; Armiraglio M; Castagnoli C; Campagnoli MF; Ramenghi U; Gustincich S; Santoro C; Dianzani I
ZIC 3 mutation analysis in five familial cases of heterotaxy: identification of a new mutation
2010-01-01 Biamino E; Garelli E; Chiesa N; Sorasio L; Belligni E; Marinosci A;Seri M; Silengo M; Ferrero GB
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
Remittent hyperammonemia in congenital portosystemic shunt
2010-01-01 Ferrero GB; Porta F; Biamino E; Mussa A; Garelli E; Chiappe F; Veltri A; Silengo MC; Gennari F
The ribosomal basis of Diamond-Blackfan Anemia: mutation and database update.
2010-01-01 Boria I; Garelli E; Gazda HT; Aspesi A; Quarello P; Pavesi E; Ferrante D; Meerpohl JJ; Kartal M; Da Costa L; Proust A; Leblanc T; Simansour M; Dahl N; Fröjmark AS; Pospisilova D; Cmejla R; Beggs AH; Sheen MR; Landowski M; Buros CM; Clinton CM; Dobson LJ; Vlachos A; Atsidaftos E; Lipton JM; Ellis SR; Ramenghi U; Dianzani I.
MUTAZIONI IN PROTEINE RIBOSOMIALI IN PAZIENTI ITALIANI CON ANEMIA DI BLACKFAN DIAMOND
2010-01-01 Quarello P; Garelli E; Carando A; Lorenzati A; Rivetti E; Ansaldi G; Davitto M; Boria I; Aspesi A; Dianzani I; Ramenghi U
UN DATABASE PER L’ANEMIA DI DIAMOND-BLACKFAN
2010-01-01 Boria I; Garelli E; Quarello P;Aspesi A; Carando A; Lorenzati A; Ansaldi G; Davitto M; Dianzani I; Ramenghi U
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
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.
Increased frequency of the glucocorticoid receptor A3669G (rs6198) polymorphism in patients with Diamond-Blackfan anemia.
2011-01-01 Varricchio L; Godbold J; Scott SA; Whitsett C; Da Costa L; Pospisilova D; Garelli E; Quarello P; Ramenghi U; Migliaccio AR.
The spectrum of non-classical Diamond-Blackfan anemia: a case of late beginning transfusion dependency associated to a new RPL5 mutation
2012-01-01 Farruggia, Piero; Quarello, Paola; Garelli, Emanuela; Paolicchi, Olivia; Ruffo, Giovanni Battista; Cuccia, Liana; Cannella, Sonia; Bruno, Giuseppa; D'Angelo, Paolo
High frequency of ribosomal protein gene deletions in Italian Diamond-Blackfan anemia patients detected by multiplex ligation-dependent probe amplification assay
2012-01-01 P. Quarello;E. Garelli;A. Brusco;A. Carando;C. Mancini;P. Pappi;L. Vinti;J. Svahn;I. Dianzani;U. Ramenghi
Loss of GATA-1 full length as a cause of Diamond-Blackfan anemia phenotype.
2014-01-01 Parrella S; Aspesi A; Quarello P; Garelli E; Pavesi E; Carando A; Nardi M; Ellis SR; Ramenghi U; 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.
Ribosomal RNA analysis in the diagnosis of Diamond-Blackfan Anaemia
2016-01-01 Quarello, Paola; Garelli, Emanuela; Carando, Adriana; Mancini, Cecilia; Foglia, Luiselda; Botto, Carlotta; Farruggia, Piero; de Keersmaecker, Kim; Aspesi, Anna; Ellis, Steve R.; Dianzani, Irma; Ramenghi, Ugo
RPL5 on 1p22.1 is recurrently deleted in multiple myeloma and its expression is linked to bortezomib response
2017-01-01 Hofman, I.J.F; van Duin, M.; de Bruyne, E.; Fancello, L.; Mulligan, G.; Geerdens, E.; Garelli, E.; Mancini, C.; Lemmens, H.; Delforge, M.; Vandenberghe, P.; Wlodarska, I.; Aspesi, A.; Michaux, L.; Vanderkerken, K.; Sonneveld, P.; de Keersmaecker, K.
Somatic reversion events point towards RPL4 as a novel disease gene in a condition resembling Diamond-Blackfan anemia.
2018-01-01 Marjolijn C J Jongmans , Illja J Diets , Paola Quarello , Emanuela Garelli , Roland P Kuiper , Rolph Pfundt
Spontaneous remission in a Diamond-Blackfan anaemia patient due to a revertant uniparental disomy ablating a de novo RPS19 mutation
2019-01-01 Garelli, Emanuela; Quarello, Paola; Giorgio, Elisa; Carando, Adriana; Menegatti, Elisa; Mancini, Cecilia; Di Gregorio, Eleonora; Crescenzio, Nicoletta; Palumbo, Orazio; Carella, Massimo; Dimartino, Paola; Pippucci, Tommaso; Dianzani, Irma; Ramenghi, Ugo; Brusco, Alfredo
Reduction of CFU-GM and Circulating Hematopoietic Progenitors in a Subgroup of Children With Chronic Neutropenia Associated With Severe Infections and Delayed Recovery
2019-01-01 Fabio Timeus, Nicoletta Crescenzio, Luiselda Foglia, Alessandra Doria, Maria Giuseppina Stillitano, Emanuela Garelli, Raffaela Mazzone, Laura Vivalda, Stefano Vallero, Ugo Ramenghi, Paola Saracco
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
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
Implications of an Underlying Beckwith–Wiedemann Syndrome for Wilms Tumor Treatment Strategies
2023-01-01 Paola Quarello,Diana Carli, Davide Biasoni, Simona Gerocarni Nappo, Carlo Morosi, Roberta Cotti, Emanuela Garelli, Giulia Zucchetti, Manuela Spadea, Elisa Tirtei, Filippo Spreafico, Franca Fagioli
| Titolo | Data di pubblicazione | Autore(i) | File |
|---|---|---|---|
| Mutations in the erythropoietin receptor gene are not a common cause of Diamond-Blackfan anemia. | 1996 | Dianzani I; Garelli E; Dompè C; Crescenzio N; Locatelli F; Schilirò G; Castaman G; Bagnara GP; Olivieri NF; Gabutti V; Ramenghi U | |
| Diamond-Blackfan anemia: a congenital defect in erythropoiesis | 1996 | 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 | |
| Stem cell factor suppresses apoptosis in neuroblastoma cell lines. | 1997 | Timeus F; Crescenzio N; Valle P; Pistamiglio P; Piglione M; Garelli E; Ricotti E; Rocchi P; Strippoli P; Cordero di Montezemolo L; Madon E; Ramenghi U; Basso G. | |
| 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. | |
| Identification of microdeletions spanning the Diamond-Blackfan anemia locus on 19q13 and evidence for genetic heterogeneity. | 1998 | Gustavsson P; Garelli E; Draptchinskaia N; Ball S; Willig TN; Tentler D; Dianzani I; Punnett HH; Shafer FE; Cario H; Ramenghi U; Glomstein A; Pfeiffer RA; Goringe A; Olivieri NF; Smibert E; Tchernia G; Elinder G; Dahl N | |
| 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. | |
| Mutations in ribosomal protein S19 gene and diamond blackfan anemia: wide variations in phenotypic expression | 1999 | WILLIG TH; DRAPTCHINSKAIA N; DIANZANI I; BALL S; NIEMEYER C; RAMENGHI U; ORFALI K; GUSTAVSSON P; GARELLI E; A. BRUSCO; TIEMANN C; PERIGNON JL; BOUCHIER C; CICCHIELLO L; DAHL N; MOHANDAS N; TCHERNIA G | |
| L'anemia di diamond blackfan | 1999 | Ramenghi U; Garelli E; Dianzani I. | |
| 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 | |
| Diamond-Blackfan Anemia: an Overview | 2000 | DIANZANI I; GARELLI E; U. RAMENGHI | |
| Flt-3 and its ligand are expressed in neural crest-derived tumors and promote survival and proliferation of their cell lines. | 2001 | TIMEUS F; RICOTTI E; CRESCENZIO N; GARELLI E; DORIA A; SPINELLI M; U. RAMENGHI; BASSO G | |
| Rapp-Hodgkin and AEC syndromes due to a new frameshift mutation in the TP63 gene. | 2003 | Dianzani I; Garelli E; Gustavsson P; Carando A; Gustafsson B; Dahl N; Annerén G. | |
| 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 | |
| Molecular basis of Diamond-Blackfan anemia: new findings from the Italian registry and a review of the literature | 2004 | CAMPAGNOLI MF; GARELLI E; QUARELLO P; CARANDO A; VAROTTO S; NOBILI B; LONGONI D; PECILE V; ZECCA M; DUFOUR C; RAMENGHI U; DIANZANI I | |
| Nonsense-mediated and nonstop decay of ribosomal protein S19 mRNA in Diamond-Blackfan anemia | 2004 | CHATR-ARYAMONTRI A; ANGELINI M; GARELLI E; TCHERNIA G; RAMENGHI U; DIANZANI I; LORENI F | |
| Somatic mosaicism and variable expressivity in Diamond Blackfan anemia (DBA): a gross deletion involving the 19q13 locus in a patient with transient anemia | 2005 | GARELLI E; QUARELLO P; CAMPAGNOLI MF; BRUSCO A; CARANDO A; MENEGATTI E; CRESCENZIO N; FOGLIA L; DIANZANI I; RAMENGHI U | |
| Interactions between RPS19, mutated in Diamond-Blackfan anemia, and the PIM-1 oncoprotein | 2005 | CHIOCCHETTI A; GIBELLO L; CARANDO A; ASPESI A; SECCO P; GARELLI E; LORENI F; ANGELINI M; BIAVA A; DAHL N; DIANZANI U; RAMENGHI U; SANTORO C; DIANZANI I | |
| 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 | |
| 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 | |
| The broad spectrum of autoimmune lymphoproliferative disease: molecular bases, clinical features and long-term follow-up in 31 patients | 2006 | CAMPAGNOLI MF; GARBARINI L; QUARELLO P; GARELLI E; CARANDO A; BARAVALLE V; DORIA A; BIAVA A; CHIOCCHETTI A; ROSOLEN A; DUFOUR C; DIANZANI U; RAMENGHI U | |
| 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 | |
| Autoimmune lymphoproliferative syndrome. [Malattia autoimmune linfoproliferativa] | 2007 | Ramenghi U; Garbarini L; Alliaudi C; Garelli E; Crescenzio N; Rivetti E; Quarello P; Campagnoli MF. | |
| R298Q mutation of p63 gene in autosomal dominant ectodermal dysplasia associated with arrhythmogenic right ventricular cardiomyopathy | 2008 | VALENZISE M; ARRIGO T; DE LUCA F; PRIVITERA A; FRIGIOLA A; CARANDO A; GARELLI E; SILENGO M | |
| RPS19 mutations in patients with Diamond-Blackfan anemia | 2008 | Campagnoli MF; Ramenghi U; Armiraglio M; Quarello P; Garelli E; Carando A; Avondo F; Pavesi E; Fribourg S; Gleizes PE; Loreni F; Dianzani I | |
| Multiplex Ligation-dependent Probe Amplification (MLPA) enhances molecular diagnosis of Diamond Blackfan Anemia due to RPS19 deficiency | 2008 | Quarello, Paola; Garelli, Emanuela; Brusco, Alfredo; Carando, Adriana; Pappi, Patrizia; Barberis, Marco; Coletti, Valentina; Campagnoli, Maria Francesca; 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 | |
| Progressive external ophthalmoplegia and vision and hearing loss in a patient with mutations in POLG2 and OPA1. | 2008 | Ferraris S; Clark S; Garelli E; Davidzon G; Moore SA; Kardon RH; Bienstock RJ; Longley MJ; Mancuso M; Gutiérrez Ríos P; Hirano M; Copeland WC; DiMauro S. | |
| Le basi genetiche di una ribosomopatia: un database per l'anemia di Diamond-Blackfan | 2009 | Boria I; Garelli E; Quarello P; Aspesi A; Carando A; Massano D; Dianzani I; Ramenghi U. | |
| High frequency of RPL5 and RPL11 gene mutation in Italians patients with Diamond-Blackfan anemia (DBA) | 2009 | Dianzani I; Ramenghi U; Quarello P; Garelli E; Carando A; Campagnoli MF; Brusco A. | |
| Neutropenie: considerazioni su una casistica monocentrica | 2009 | Massano D; Garelli E; Renga D; Lorenzati A; Carando A; Garbarini L; Rivetti E; Vallero S; Parodi E; 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. | |
| HDR syndrome: a novel "de novo" mutation in GATA3 gene. | 2009 | Ferraris S; Del Monaco AG; Garelli E; Carando A; De Vito B; Pappi P; Lala R; Ponzone A. | |
| 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. | |
| Fibroblasts from patients with Diamond-Blackfan anaemia show abnormal expression of genes involved in protein synthesis, amino acid metabolism and cancer | 2009 | Avondo F; Roncaglia P; Crescenzio N; Krmac H; Garelli E; Armiraglio M; Castagnoli C; Campagnoli MF; Ramenghi U; Gustincich S; Santoro C; Dianzani I | |
| ZIC 3 mutation analysis in five familial cases of heterotaxy: identification of a new mutation | 2010 | Biamino E; Garelli E; Chiesa N; Sorasio L; Belligni E; Marinosci A;Seri M; Silengo M; Ferrero GB | |
| 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 | |
| Remittent hyperammonemia in congenital portosystemic shunt | 2010 | Ferrero GB; Porta F; Biamino E; Mussa A; Garelli E; Chiappe F; Veltri A; Silengo MC; Gennari F | |
| The ribosomal basis of Diamond-Blackfan Anemia: mutation and database update. | 2010 | Boria I; Garelli E; Gazda HT; Aspesi A; Quarello P; Pavesi E; Ferrante D; Meerpohl JJ; Kartal M; Da Costa L; Proust A; Leblanc T; Simansour M; Dahl N; Fröjmark AS; Pospisilova D; Cmejla R; Beggs AH; Sheen MR; Landowski M; Buros CM; Clinton CM; Dobson LJ; Vlachos A; Atsidaftos E; Lipton JM; Ellis SR; Ramenghi U; Dianzani I. | |
| MUTAZIONI IN PROTEINE RIBOSOMIALI IN PAZIENTI ITALIANI CON ANEMIA DI BLACKFAN DIAMOND | 2010 | Quarello P; Garelli E; Carando A; Lorenzati A; Rivetti E; Ansaldi G; Davitto M; Boria I; Aspesi A; Dianzani I; Ramenghi U | |
| UN DATABASE PER L’ANEMIA DI DIAMOND-BLACKFAN | 2010 | Boria I; Garelli E; Quarello P;Aspesi A; Carando A; Lorenzati A; Ansaldi G; Davitto M; Dianzani I; Ramenghi U | |
| 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 | |
| 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. | |
| Increased frequency of the glucocorticoid receptor A3669G (rs6198) polymorphism in patients with Diamond-Blackfan anemia. | 2011 | Varricchio L; Godbold J; Scott SA; Whitsett C; Da Costa L; Pospisilova D; Garelli E; Quarello P; Ramenghi U; Migliaccio AR. | |
| The spectrum of non-classical Diamond-Blackfan anemia: a case of late beginning transfusion dependency associated to a new RPL5 mutation | 2012 | Farruggia, Piero; Quarello, Paola; Garelli, Emanuela; Paolicchi, Olivia; Ruffo, Giovanni Battista; Cuccia, Liana; Cannella, Sonia; Bruno, Giuseppa; D'Angelo, Paolo | |
| High frequency of ribosomal protein gene deletions in Italian Diamond-Blackfan anemia patients detected by multiplex ligation-dependent probe amplification assay | 2012 | P. Quarello;E. Garelli;A. Brusco;A. Carando;C. Mancini;P. Pappi;L. Vinti;J. Svahn;I. Dianzani;U. Ramenghi | |
| Loss of GATA-1 full length as a cause of Diamond-Blackfan anemia phenotype. | 2014 | Parrella S; Aspesi A; Quarello P; Garelli E; Pavesi E; Carando A; Nardi M; Ellis SR; Ramenghi U; 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. | |
| Ribosomal RNA analysis in the diagnosis of Diamond-Blackfan Anaemia | 2016 | Quarello, Paola; Garelli, Emanuela; Carando, Adriana; Mancini, Cecilia; Foglia, Luiselda; Botto, Carlotta; Farruggia, Piero; de Keersmaecker, Kim; Aspesi, Anna; Ellis, Steve R.; Dianzani, Irma; Ramenghi, Ugo | |
| RPL5 on 1p22.1 is recurrently deleted in multiple myeloma and its expression is linked to bortezomib response | 2017 | Hofman, I.J.F; van Duin, M.; de Bruyne, E.; Fancello, L.; Mulligan, G.; Geerdens, E.; Garelli, E.; Mancini, C.; Lemmens, H.; Delforge, M.; Vandenberghe, P.; Wlodarska, I.; Aspesi, A.; Michaux, L.; Vanderkerken, K.; Sonneveld, P.; de Keersmaecker, K. | |
| Somatic reversion events point towards RPL4 as a novel disease gene in a condition resembling Diamond-Blackfan anemia. | 2018 | Marjolijn C J Jongmans , Illja J Diets , Paola Quarello , Emanuela Garelli , Roland P Kuiper , Rolph Pfundt | |
| Spontaneous remission in a Diamond-Blackfan anaemia patient due to a revertant uniparental disomy ablating a de novo RPS19 mutation | 2019 | Garelli, Emanuela; Quarello, Paola; Giorgio, Elisa; Carando, Adriana; Menegatti, Elisa; Mancini, Cecilia; Di Gregorio, Eleonora; Crescenzio, Nicoletta; Palumbo, Orazio; Carella, Massimo; Dimartino, Paola; Pippucci, Tommaso; Dianzani, Irma; Ramenghi, Ugo; Brusco, Alfredo | |
| Reduction of CFU-GM and Circulating Hematopoietic Progenitors in a Subgroup of Children With Chronic Neutropenia Associated With Severe Infections and Delayed Recovery | 2019 | Fabio Timeus, Nicoletta Crescenzio, Luiselda Foglia, Alessandra Doria, Maria Giuseppina Stillitano, Emanuela Garelli, Raffaela Mazzone, Laura Vivalda, Stefano Vallero, Ugo Ramenghi, Paola Saracco | |
| 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 | |
| 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 | |
| Implications of an Underlying Beckwith–Wiedemann Syndrome for Wilms Tumor Treatment Strategies | 2023 | Paola Quarello,Diana Carli, Davide Biasoni, Simona Gerocarni Nappo, Carlo Morosi, Roberta Cotti, Emanuela Garelli, Giulia Zucchetti, Manuela Spadea, Elisa Tirtei, Filippo Spreafico, Franca Fagioli |
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