Nuclear Proteins

La sindrome Coffin-Siris (CSS)

Prada E, Mariani M, Scarano G, Selicorni A.

2025/8 — pag. 525-527 — DOI

Occhio all'emocromo... prima che sia tardi

Di Noto F, Lo Meo F, Marra G, Dimartino G, Gilotta C, Genduso M, Ferraro T, Allegra M, Guarina A, Cardella F, Corsello G

2025/7 — pag. 190-191 — DOI

A 5-year-old boy, presented with hematemesis, diffuse petechiae, epistaxis, respiratory distress and severe pancytopenia. After poor response to immunoglobulin and steroid therapy, bone marrow evaluation revealed trilineage cytopenia. The combination...

Guardare oltre il tumore: le cancer-predisposing syndrome in età pediatrica

Bettini LR, Lauriola RS, Vendemini F, Coliva T, Biondi A, Cazzaniga G.

2023/4 — pag. 237-241 — DOI

About 10% of children with cancer carry a pathogenic mutation in genes predisposing to tumourigenesis. These mutations are being identified more and more frequently thanks to the use of next-generation sequencing techniques in the diagnostic work-up ...

Sindrome di Rett

Cianci P, Picchi R, Armano C, Selicorni A

2021/8 — pag. 519-521 — DOI

Linfoma di Burkitt in età pediatrica

Timeus F, Piglione M, Fagioli F, Ravaglia A

2021/6 — pag. 175-184 — DOI

Sporadic Burkitt lymphoma (BL) accounts for about 80% of non-Hodgkin lymphomas in childhood and adolescence, with an incidence of 3-5 cases per million in developed countries. The hallmark of LB is the deregulation of MYC oncogene, usually caused by ...

Anticorpi anti-istone: è sempre lupus indotto da farmaci?

A. Azzali, T. Giani, G. Simonini, R. Cimaz

2018/2 — pag. 119-122

The paper describes the case of a South-American 14-year-old girl who presented with arthralgia, weakness and alopecia. As she was under antiepileptic treatment since she was 5 years of age, on suspicion of drug-induced lupus erythematosus (DILE) ant...

Anticorpi anti-istone: è sempre lupus indotto da farmaci?

A. Azzali, T. Giani, G. Simonini, R. Cimaz

2018/2

The paper describes the case of a South-American 14-year-old girl who presented with arthralgia, weakness and alopecia. As she was under antiepileptic treatment since she was 5 years of age, on suspicion of drug-induced lupus erythematosus (DILE) ant...

Modi diversi di sviluppare un diabete

M. Pavan, A. Lora, G. Gortani, E. Faleschini

2017/6 — pag. 395-396

Modi diversi di sviluppare un diabete

M. Pavan, A. Lora, G. Gortani, E. Faleschini

2017/6

Dal pubarca a una sindrome genetica:diagnosi di una malattia rara

E. Benelli, N. Giurici, A. Ventura, M. Rabusin

2017/2 — pag. 107-112

The paper reports the case of a 2-year-old child presenting with pubarche, clitoromegaly and seborrhoea. Her past medical history was unremarkable and no other abnormal sign was found at the physical exam. Karyotype was normal 46 XX. Because of the...

Dalla clinica alla genetica.Il percorso di una famiglia in un caso di sindrome di  Rett

S. Tambè, T. Gerarduzzi, A. Scabar

2002/5

Dalla clinica alla genetica: il percorso di una famiglia in un caso di sindrome di Rett

2002/5 — pag. 325-326

Report of a case of Rett’s syndrome: the family refused the diagnosis of Rett’s syndrome. Instead, it accepted the diagnosis of mercury neurotoxicity and the relevant treatment. Finally, it accepted the final molecular diagnosis posed by in si...

Incontinentia Pigmenti

S. Marinoni, T. Bardaro

2001/10