High-Throughput Nucleotide Sequencing

La sindrome di Wiedemann-Steiner

Carabelli G, Selicorni A.

2026/4 — pag. 250-252 — DOI

Se ha crisi e MaNGIE male pensa a mitocondriopatia

Gauci MC, Di Nora A, Meli C

2024/5 — pag. 96-97 — DOI

The diagnosis of mitochondrial neurogastrointestinal encephalopathy (MNGIE) syndrome, using next-generation sequencing (NGS) panel for genes associated with encephalopathy, was finally made in a 4-year-old girl who presented with marked dystrophy (wi...

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 ...

Le malattie demielinizzanti nel bambino e nell’adolescente: non solo sclerosi multipla

Granata T.

2023/4 — pag. 211-212 — DOI

Un ambito di patologie di grande interesse e con rilevanti novità ancora non adeguatamente conosciute: dalla patogenesi ai nuovi criteri classificativi e diagnostici, per arrivare ai risvolti terapeutici e assistenziali. Il commento autorevole al Foc...

La Genetica democratica

Marchetti F.

2022/5 — pag. 279-280 — DOI

Encefalopatie epilettiche e dello sviluppo: dalla pratica alla genetica, andata e ritorno

Zanus C, Musante L, Faletra F, Carrozzi M, Costa P.

2022/1 — pag. 33-40 — DOI

In the last decades the research on the genetics of epilepsy has greatly expanded, supported by the development of effective next-generation sequencing (NGS) methods. In particular, the studies in Developmental and Epileptic Encephalopathies (DEEs) d...

La tecnologia genetica: ciò che ogni pediatra dovrebbe sapere

Mariani M, Cianci P, Cereda A, Maitz A, Giagnacovo M, Modena P, Iascone M, Selicorni A

2021/5 — pag. 291-301 — DOI

Availability of genetic tests has remarkably increased in the last few years. The new technologies offer clinicians new diagnostic opportunities that enable to save time and money in the diagnostic path of patients with possible genetic disease. Also...

Il neonato che “sa di sale”

Serra G, Antona V, D’Alessandro M, Corsello G

2021/2 — pag. 119-122 — DOI

Pseudohypoaldosteronism type 1 (PHA1) is a rare genetic disease due to the peripheral resistance to aldosterone. Clinical spectrum with neonatal onset includes salt loss, hyponatremia, hypochloraemia, hyperkalaemia, metabolic acidosis and increased p...

Il ruolo del microbiota intestinale nella modulazione immunitaria

D. Leardini, E. Muratore, D. Zama, A. Prete, A. Pession, R. Masetti

2020/6 — pag. 130-136 — DOI

The intestinal microbiota plays a crucial role in numerous physiological and pathological processes of the developmental age. The development of new investigation methods, such as next generation sequencing, has allowed a more precise characterizatio...

MALATTIA INFIAMMATORIA CRONICA INTESTINALE E DINTORNI

A. Ventura

2020/5 — pag. 314-314

Il bambino con eccesso di crescita tra variabilità clinica ed eterogeneità genetica

G. Serra, M. Schierz, V. Antona, C.F. Giardina, M. Giuffrè, E. Piro, G. Corsello

2020/4 — pag. 243-248

Either in the newborn or in the child overgrowth can be generalized or localized if it is limited to one or more body regions. When overgrowth depends on a metabolic imbalance, or it is constitutional, the excessive growth can be the only clinical si...

Implementazione dell’analisi dell’esoma nella pratica clinica: uno studio di fattibilità

A. Aversano

2020/4 — pag. 94-94 — DOI

Corto come il papà

G. Tornese

2019/7 — pag. 431-437

Familial short stature is the second cause of short stature immediately after constitutional delay of growth and puberty. So far, in case of familiarity for short stature, regular growth velocity, bone age compatible with chronological age, the ind...

Le sfide della Medicina contemporanea

S. Maitz, A. Biondi

2018/10 — pag. 635