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A. Carando · SciRah

Researcher profile · Semantic Scholar

A. Carando

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A. Carando — researcher profile on SciRah

h-index: 19
Works: 34
Citations: 1,003

Most-cited papers

RPS19 mutations in patients with Diamond‐Blackfan anemia
M. Campagnoli, U. Ramenghi, M. Armiraglio, P. Quarello +8 more
2008Human Mutation109 citations Open access
Semantic Scholar
Diamond-Blackfan anemia: genotype-phenotype correlations in Italian patients with RPL5 and RPL11 mutations
P. Quarello, E. Garelli, A. Carando, A. Brusco +10 more
2010Haematologica104 citations Open access
Semantic Scholar
Molecular basis of Diamond-Blackfan anemia: new findings from the Italian registry and a review of the literature.
M. Campagnoli, E. Garelli, P. Quarello, A. Carando +8 more
2004Haematologica97 citations
Semantic Scholar
Loss of GATA-1 Full Length as a Cause of Diamond–Blackfan Anemia Phenotype
Sara Parrella, A. Aspesi, P. Quarello, E. Garelli +6 more
2014Pediatric Blood & Cancer89 citations Open access
Semantic Scholar
Familial tumoral calcinosis and testicular microlithiasis associated with a new mutation of GALNT3 in a white family
M. Campagnoli, A. Pucci, E. Garelli, A. Carando +6 more
2006Journal of Clinical Pathology63 citations Open access
Semantic Scholar
High frequency of ribosomal protein gene deletions in Italian Diamond-Blackfan anemia patients detected by multiplex ligation-dependent probe amplification assay
P. Quarello, E. Garelli, A. Brusco, A. Carando +6 more
2012Haematologica57 citations Open access
Semantic Scholar
The broad spectrum of autoimmune lymphoproliferative disease: molecular bases, clinical features and long-term follow-up in 31 patients.
M. Campagnoli, L. Garbarini, P. Quarello, E. Garelli +9 more
2006Haematologica57 citations
Semantic Scholar
Interactions between RPS19, mutated in Diamond-Blackfan anemia, and the PIM-1 oncoprotein.
A. Chiocchetti, L. Gibello, A. Carando, A. Aspesi +10 more
2005Haematologica55 citations
Semantic Scholar
HDR syndrome: A novel “de novo” mutation in GATA3 gene
S. Ferraris, Angelo Del Monaco, E. Garelli, A. Carando +4 more
2009American Journal of Medical Genetics. Part A48 citations
Semantic Scholar
Rapp-Hodgkin and AEC syndromes due to a new frameshift mutation in the TP63 gene
I. Dianzani, E. Garelli, P. Gustavsson, A. Carando +3 more
2003Journal of Medical Genetics45 citations Open access
Semantic Scholar
A new database for ribosomal protein genes which are mutated in Diamond‐Blackfan Anemia
Ilenia Boria, P. Quarello, Federica Avondo, E. Garelli +5 more
2008Human Mutation40 citations
Semantic Scholar
Diamond-Blackfan anemia: report of seven further mutations in the RPS19 gene and evidence of mutation heterogeneity in the Italian population.
U. Ramenghi, M. Campagnoli, E. Garelli, A. Carando +7 more
2000Blood Cells, Molecules & Diseases40 citations
Semantic Scholar
A 20‐year long term experience of the Italian Diamond‐Blackfan Anaemia Registry: RPS and RPL genes, different faces of the same disease?
P. Quarello, E. Garelli, A. Carando, Rebecca Cillario +16 more
2020British Journal of Haematology35 citations Open access
Semantic Scholar
Ribosomal RNA analysis in the diagnosis of Diamond‐Blackfan Anaemia
P. Quarello, E. Garelli, A. Carando, C. Mancini +8 more
2016British Journal of Haematology33 citations Open access
Semantic Scholar
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
P. Prontera, E. Garelli, I. Isidori, A. Mencarelli +3 more
2011American Journal of Medical Genetics. Part A26 citations
Semantic Scholar
Identification of defective Fas function and variation of the perforin gene in an epidermodysplasia verruciformis patient lacking EVER1 and EVER2 mutations.
E. Zavattaro, B. Azzimonti, M. Mondini, M. De Andrea +10 more
2008Journal of Investigative Dermatology26 citations Open access
Semantic Scholar
Spontaneous remission in a Diamond‐Blackfan anaemia patient due to a revertant uniparental disomy ablating a de novo RPS19 mutation
E. Garelli, P. Quarello, E. Giorgio, A. Carando +11 more
2018British Journal of Haematology25 citations Open access
Semantic Scholar
R298Q mutation of p63 gene in autosomal dominant ectodermal dysplasia associated with arrhythmogenic right ventricular cardiomyopathy.
M. Valenzise, T. Arrigo, F. De Luca, A. Privitera +4 more
2008European Journal of Medical Genetics21 citations
Semantic Scholar
Multiplex ligation-dependent probe amplification enhances molecular diagnosis of Diamond-Blackfan anemia due to RPS19 deficiency
P. Quarello, E. Garelli, A. Brusco, A. Carando +6 more
2008Haematologica19 citations Open access
Semantic Scholar
AEC syndrome: further evidence of a common genetic etiology with Rapp-Hodgkin syndrome.
L. Sorasio, G. Ferrero, E. Garelli, G. Brunello +5 more
2006European Journal of Medical Genetics9 citations
Semantic Scholar
DNA Methylation Episignature as a Novel Diagnostic Tool for Diamond‐Blackfan Anemia Syndrome
P. Quarello, Karim Karimi, S. Trajkova, E. Garelli +26 more
2025American journal of hematology/oncology2 citations Open access
Semantic Scholar
Design of a multiplex ligation-dependent probe amplification assay for SLC20A2: identification of two novel deletions in primary familial brain calcification
E. Giorgio, E. Garelli, A. Carando, Stefania Bellora +10 more
2019Journal of Human Genetics2 citations Open access
Semantic Scholar
Management of Iron Overload in Infants and Toddlers With Diamond–Blackfan Anemia Syndrome: A French–Italian Study
Francesca Torchio, Baptiste Lecalvez, E. Garelli, C. Mallebranche +16 more
2026American journal of hematology/oncology1 citations Open access
Semantic Scholar
Anemia di Blackfan Diamond: Registro Italiano AIEOP
P. Quarello, E. Garelli, A. Carando, M. Luciani +17 more
20160 citations
Semantic Scholar
High Frequency of Large Gene Deletions Detected by Multiplex Ligation-Dependent Probe Amplification in Diamond Blackfan Anemia,
P. Quarello, E. Garelli, A. Carando, P. Pappi +3 more
20110 citations
Semantic Scholar
UN DATABASE PER L’ANEMIA DI DIAMOND-BLACKFAN
Ilenia Boria, E. Garelli, P. Quarello, A. Aspesi +4 more
20090 citations
Semantic Scholar
High frequency of RPL5 and RPL11 gene mutation in Italians patients with Diamond-Blackfan anemia (DBA)
I. Dianzani, U. Ramenghi, P. Quarello, E. Garelli +3 more
20090 citations
Semantic Scholar
High Frequency of RPL11 Gene Mutation in Italian Patients with Diamond-Blackfan Anemia
P. Quarello, E. Garelli, A. Carando, M. Campagnoli +3 more
20080 citations
Semantic Scholar
A TACI Mutation in a Patient with Autoimmune Lymphoproliferative Syndrome.
M. Campagnoli, E. Garelli, Valentina Baravalle, A. Carando +3 more
20060 citations
Semantic Scholar
Somatic Mosaicism and Variable Expressivity in Diamond Blackfan Anemia (DBA): A Large Deletion Involving the 19q13 Locus in a Patient with Transient Anemia.
E. Garelli, P. Quarello, M. Campagnoli, A. Brusco +6 more
20050 citations
Semantic Scholar
Search for protein interactors of ribosomal protein S19, mutated in Diamond Blackfan Anemia
I. Dianzani, A. Chiocchetti, L. Gibello, A. Carando +11 more
20050 citations
Semantic Scholar
Anemia di Diamond Blackfan (DBA) : Studio dell’espressione genica.
P. Quarello, M. Campagnoli, E. Garelli, A. Carando +6 more
20040 citations
Semantic Scholar
Molecular analysis of EEC and related syndromes Rapp-Hodgkin syndrome is due to mutations in P63
I. Dianzani, E. Garelli, V. Cavallo, A. Carando +4 more
20020 citations
Semantic Scholar
A 20-year long experience of the Diamond-Blackfan Anaemia Italian Registry: RPS and RPL genes, different faces of the same disease? AUTHORS
P. Quarello, E. Garelli, A. Carando, Rebecca Cillario +17 more
0 citations
Semantic Scholar

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