A. Carando

发表

RPS19 mutations in patients with Diamond‐Blackfan anemia

I. Dianzani, P. Gleizes, F. Loreni, 2008, Human mutation.

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

D. Ferrante, I. Dianzani, A. Brusco, 2020, British journal of haematology.

A 20-year long experience of the Diamond-Blackfan Anaemia Italian Registry: RPS and RPL genes, different faces of the same disease? AUTHORS

D. Ferrante, I. Dianzani, A. Brusco, 2022 .

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

A. Mencarelli, M. Silengo, P. Prontera, 2011, American journal of medical genetics. Part A.

AEC syndrome: further evidence of a common genetic etiology with Rapp-Hodgkin syndrome.

I. Dianzani, G. Ferrero, E. Garelli, 2006, European journal of medical genetics.

Rapp-Hodgkin and AEC syndromes due to a new frameshift mutation in the TP63 gene

I. Dianzani, G. Annéren, N. Dahl, 2003, Journal of medical genetics.

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

I. Dianzani, R. Lala, A. Pucci, 2006, Journal of Clinical Pathology.

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

A. Chiocchetti, U. Dianzani, A. Doria, 2006, Haematologica.

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

I. Dianzani, A. Brusco, J. Svahn, 2012, Haematologica.

HDR syndrome: A novel “de novo” mutation in GATA3 gene

R. Lala, A. Ponzone, E. Garelli, 2009, American journal of medical genetics. Part A.

R298Q mutation of p63 gene in autosomal dominant ectodermal dysplasia associated with arrhythmogenic right ventricular cardiomyopathy.

M. Silengo, M. Valenzise, F. De Luca, 2008, European journal of medical genetics.

Ribosomal RNA analysis in the diagnosis of Diamond‐Blackfan Anaemia

I. Dianzani, A. Aspesi, S. Ellis, 2016, British journal of haematology.

Spontaneous remission in a Diamond‐Blackfan anaemia patient due to a revertant uniparental disomy ablating a de novo RPS19 mutation

T. Pippucci, I. Dianzani, M. Carella, 2018, British journal of haematology.

Molecular basis of Diamond-Blackfan anemia: new findings from the Italian registry and a review of the literature.

C. Dufour, M. Zecca, M. Campagnoli, 2004, Haematologica.

Identification of defective Fas function and variation of the perforin gene in an epidermodysplasia verruciformis patient lacking EVER1 and EVER2 mutations.

G. Cappellano, M. Ferretti, U. Dianzani, 2008, The Journal of investigative dermatology.

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

I. Dianzani, A. Aspesi, S. Ellis, 2014, Pediatric blood & cancer.

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

Claudio Santoro, Umberto Dianzani, A. Chiocchetti, 2005, Haematologica.

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

Alfredo Brusco, I. Dianzani, A. Aspesi, 2010, Haematologica.

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

I. Dianzani, A. Aspesi, M. Campagnoli, 2008, Human mutation.

Multiplex ligation-dependent probe amplification enhances molecular diagnosis of Diamond-Blackfan anemia due to RPS19 deficiency

I. Dianzani, A. Brusco, M. Barberis, 2008, Haematologica.

Diamond-Blackfan anemia: report of seven further mutations in the RPS19 gene and evidence of mutation heterogeneity in the Italian population.

I. Dianzani, P. Strippoli, A. Brusco, 2000, Blood cells, molecules & diseases.

Design of a multiplex ligation-dependent probe amplification assay for SLC20A2: identification of two novel deletions in primary familial brain calcification

B. Pasini, A. Brusco, E. Rubino, 2019, Journal of Human Genetics.

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

A. Chiocchetti, U. Dianzani, A. Doria, 2006, Haematologica.