Diamond-Blackfan anemia: genotype-phenotype correlations in Italian patients with RPL5 and RPL11 mutations

Paola Quarello, Emanuela Garelli, Adriana Carando, +11

Haematologica

Loss of GATA‐1 full length as a cause of Diamond–Blackfan anemia phenotype

Sara Parrella, Anna Aspesi, Paola Quarello, +7

Pediatric Blood & Cancer

Familial tumoral calcinosis and testicular microlithiasis associated with a new mutation of GALNT3 in a white family

Maria Francesca Campagnoli, Angela Pucci, Emanuela Garelli, +7

Journal of Clinical Pathology

High frequency of ribosomal protein gene deletions in Italian Diamond-Blackfan anemia patients detected by multiplex ligation-dependent probe amplification assay

P. Quarello, Emanuela Garelli, Alfredo Brusco, +7

Haematologica

Ribosomal Protein GenesDiamond-blackfan AnemiaMendelian DisorderGenetic DisorderMedicine +12

The broad spectrum of autoimmune lymphoproliferative disease: molecular bases, clinical features and long-term follow-up in 31 patients.

Maria Francesca Campagnoli, L. Garbarini, Paola Quarello, +10

PubMed

ImmunodeficienciesImmunologyGenetic EpidemiologyPathologyAntibody Deficiency +21

Interactions between RPS19, mutated in Diamond-Blackfan anemia, and the PIM-1 oncoprotein.

Annalisa Chiocchetti, Luisa Gibello, Adriana Carando, +11

PubMed

HDR syndrome: A novel “de novo” mutation in <i>GATA3</i> gene

Silvio Ferraris, Angelo Giovanni Del monaco, Emanuela Garelli, +5

American Journal of Medical Genetics Part A

Renal DysplasiaHuman Gata3 HaploinsufficiencyGene DosageMendelian DisorderHdr Syndrome +12

A new database for ribosomal protein genes which are mutated in Diamond-Blackfan Anemia

Ilenia Boria, Paola Quarello, Federica Avondo, +6

Human Mutation

Ribosomal Protein GenesGeneticsMolecular BiologyPathologyMolecular Genetics +18

Diamond-Blackfan Anemia: Report of Seven Further Mutations in the RPS19 Gene and Evidence of Mutation Heterogeneity in the Italian Population

Ugo Ramenghi, Mf Campagnoli, Emanuela Garelli, +8

Blood Cells Molecules and Diseases

BiologyAllelic VariantDiamond-blackfan AnemiaRps19 GeneGenetic Disorder +7

A 20‐year long term experience of the Italian Diamond‐Blackfan Anaemia Registry: <i>RPS</i> and <i>RPL</i> genes, different faces of the same disease?

Paola Quarello, Emanuela Garelli, Adriana Carando, +17

British Journal of Haematology