DNA-Binding Proteins

Trombocitopenia immune: quando le immunoglobuline non funzionano

Iannicelli A, Vorini MV, Beneduce G, Giagnuolo G, Parasole R, Menna G

2025/6 — pag. 162-163 — DOI

A 9-year-old boy was initially evaluated for macrocytic anaemia, neutrophilic leukocytosis and thrombocytopenia, with spontaneous ecchymoses but with no significant medical history. After ten months of follow-up, hematologic worsening occurred alongs...

La sindrome di Léri-Weill o discondrosteosi

Atzeri F, Scupilliti S, Scarano G, Selicorni A.

2024/10 — pag. 653-655 — DOI

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 ...

La sindrome di Myhre

Carrer A, Negrello G, Selicorni A.

2022/9 — pag. 593-595 — DOI

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 ...

Foramina parietalia permagna: descrizione di un caso clinico e revisione della letteratura

Mazzoni S, Guidi B, Tavani F

2021/2 — pag. 51-54 — DOI

The purpose of the present work is to expose the defects of parietal bone ossification and to identify the criteria for differential diagnosis and brain changes related to the condition, with particular attention to the venous developmental anomalies...

Linfoistiocitosi emofagocitica, tubercolosi e immunodeficienza primitiva

L. Lodi, R. Cupone

2020/1 — pag. 20-20

Bassa statura da deficit di gene SHOX: vecchi e nuovi concetti

M.C. Pellegrin, S. Andrade, E. Faleschini, E. Barbi, C. Bizzarri, G. Tornese

2019/7 — pag. 438-444

At the moment alterations of SHOX gene, located in the pseudoautosomal region of sex chromosomes, are considered the most frequent genetic defects associated with short stature. Pathogenic mutations leading to SHOX deficiency involve not just exons...

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...

Pertosse Suicidio e adolescente: to ask or not to ask? IKAROS... e il dominio della nuova genetica Apgar score e successo scolastico Zika virus Poveri e con la peritonite

2016/3 — pag. 149-150

La candidiasi mucocutanea cronica

L. Guadrini, R. Badolato

2013/6 — pag. 372-376

The mucocutaneous candidiasis (CMC) is a chronic condition characterized by persistent or recurrent Candida infections ranging from superficial infections such as oral thrush, candidal onychomycosis and genital mucosa infections to systemic potenti...

Il sonno di Ondina

C. Tuoni, F. Dini, M. Giampietri, P. Ghirri, I. Ceccherini, A. Boldrini

2012/1

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

Il ventaglio clinico dell'infezione da Bartonella henselaeUn nuovo gene dell'autoimmunità

G. Bartolozzi

2001/1